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What are the symptoms of Congenital sucrase-isomaltase deficiency ? | What are the signs and symptoms of Congenital sucrase-isomaltase deficiency? Affected infants usually develop symptoms soon after they first ingest sucrose, which is found in modified milk formulas, fruits, or starches. Symptoms may include explosive, watery diarrhea resulting in abnormally low levels of body fluids (d... | GARD | Congenital sucrase-isomaltase deficiency |
How to diagnose Congenital sucrase-isomaltase deficiency ? | How is congenital sucrase-isomaltase deficiency (CSID) diagnosed? CSID can be diagnosed through clinical evaluation, detailed patient history, and tolerance lab tests. Blood tests can be done to look for a flat serum glucose curve after patients are given a dose of sucrose. In addition, blood and urine samples may test... | GARD | Congenital sucrase-isomaltase deficiency |
What are the treatments for Congenital sucrase-isomaltase deficiency ? | How might congenital sucrase-isomaltase deficiency (CSID) be treated? CSID is typically treated by modifying a person's diet to reduce the amount of sucrose. Because many foods contain sucrose and other complex sugars, it can be difficult to completely remove sucrase from the diet. Sucraid is an oral medication contain... | GARD | Congenital sucrase-isomaltase deficiency |
What are the symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ? | What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 2. If the information is available, the table below inc... | GARD | Immune dysfunction with T-cell inactivation due to calcium entry defect 2 |
What are the symptoms of Dysautonomia like disorder ? | What are the signs and symptoms of Dysautonomia like disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Dysautonomia like disorder. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | GARD | Dysautonomia like disorder |
What is (are) Spondylocostal dysostosis 3 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. T... | GARD | Spondylocostal dysostosis 3 |
What are the symptoms of Spondylocostal dysostosis 3 ? | What are the signs and symptoms of Spondylocostal dysostosis 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | GARD | Spondylocostal dysostosis 3 |
What is (are) Thrombotic thrombocytopenic purpura, congenital ? | Thrombotic thrombocytopenic purpura (TTP), congenital is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in small blood vessels throughout the body. ... | GARD | Thrombotic thrombocytopenic purpura, congenital |
What are the symptoms of Thrombotic thrombocytopenic purpura, congenital ? | What are the signs and symptoms of Thrombotic thrombocytopenic purpura, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Thrombotic thrombocytopenic purpura, congenital. If the information is available, the table below includes how often the symptom is seen in people with t... | GARD | Thrombotic thrombocytopenic purpura, congenital |
What are the symptoms of Optic atrophy 6 ? | What are the signs and symptoms of Optic atrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to... | GARD | Optic atrophy 6 |
What is (are) Neuronal ceroid lipofuscinosis 7 ? | Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), ... | GARD | Neuronal ceroid lipofuscinosis 7 |
What are the symptoms of Neuronal ceroid lipofuscinosis 7 ? | What are the signs and symptoms of Neuronal ceroid lipofuscinosis 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 7. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | GARD | Neuronal ceroid lipofuscinosis 7 |
What are the symptoms of Grubben de Cock Borghgraef syndrome ? | What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | GARD | Grubben de Cock Borghgraef syndrome |
What is (are) Aicardi-Goutieres syndrome type 1 ? | Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin les... | GARD | Aicardi-Goutieres syndrome type 1 |
What are the symptoms of Aicardi-Goutieres syndrome type 1 ? | What are the signs and symptoms of Aicardi-Goutieres syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | GARD | Aicardi-Goutieres syndrome type 1 |
What is (are) Amyopathic dermatomyositis ? | Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensi... | GARD | Amyopathic dermatomyositis |
What are the symptoms of Amyopathic dermatomyositis ? | What are the signs and symptoms of Amyopathic dermatomyositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyopathic dermatomyositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | GARD | Amyopathic dermatomyositis |
What are the symptoms of Maturity-onset diabetes of the young, type 7 ? | What are the signs and symptoms of Maturity-onset diabetes of the young, type 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 7. If the information is available, the table below includes how often the symptom is seen in people with this co... | GARD | Maturity-onset diabetes of the young, type 7 |
What is (are) Paget disease of bone ? | Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect... | GARD | Paget disease of bone |
What are the symptoms of Paget disease of bone ? | What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | GARD | Paget disease of bone |
What are the symptoms of Rowley-Rosenberg syndrome ? | What are the signs and symptoms of Rowley-Rosenberg syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rowley-Rosenberg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | GARD | Rowley-Rosenberg syndrome |
What are the symptoms of McKusick Kaufman syndrome ? | What are the signs and symptoms of McKusick Kaufman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McKusick Kaufman syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | GARD | McKusick Kaufman syndrome |
What are the symptoms of 3 methylglutaconic aciduria type V ? | What are the signs and symptoms of 3 methylglutaconic aciduria type V? The Human Phenotype Ontology provides the following list of signs and symptoms for 3 methylglutaconic aciduria type V. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | GARD | 3 methylglutaconic aciduria type V |
What are the symptoms of Thai symphalangism syndrome ? | What are the signs and symptoms of Thai symphalangism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thai symphalangism syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | GARD | Thai symphalangism syndrome |
What are the symptoms of Spastic diplegia infantile type ? | What are the signs and symptoms of Spastic diplegia infantile type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic diplegia infantile type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | GARD | Spastic diplegia infantile type |
What is (are) 47 XXX syndrome ? | 47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls ... | GARD | 47 XXX syndrome |
What are the symptoms of 47 XXX syndrome ? | What are the signs and symptoms of 47 XXX syndrome? Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced. Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. Minor physical finding... | GARD | 47 XXX syndrome |
Is 47 XXX syndrome inherited ? | Is 47 XXX syndrome inherited? Most cases of 47 XXX syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For... | GARD | 47 XXX syndrome |
How to diagnose 47 XXX syndrome ? | How is 47 XXX syndrome diagnosed? 47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. This test would reveal the pres... | GARD | 47 XXX syndrome |
What are the treatments for 47 XXX syndrome ? | How might 47 XXX syndrome be treated? There is no cure for 47 XXX syndrome, and there is no way to remove the extra X chromosome that is present in an affected individual's cells. Management of the condition varies and depends on several factors including the age at diagnosis, the specific symptoms that are present, an... | GARD | 47 XXX syndrome |
What is (are) Hypertrophic neuropathy of Dejerine-Sottas ? | Hypertrophic neuropathy of Dejerine-Sottas (Dejerine-Sottas syndrome) is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease (sometimes called type 3) that is characterized by sensory loss with ataxia in the limbs furthest from the body and pes cavus with progression towards ... | GARD | Hypertrophic neuropathy of Dejerine-Sottas |
What are the symptoms of Hypertrophic neuropathy of Dejerine-Sottas ? | What are the signs and symptoms of Hypertrophic neuropathy of Dejerine-Sottas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrophic neuropathy of Dejerine-Sottas. If the information is available, the table below includes how often the symptom is seen in people with this condit... | GARD | Hypertrophic neuropathy of Dejerine-Sottas |
What are the symptoms of Bare lymphocyte syndrome 2 ? | What are the signs and symptoms of Bare lymphocyte syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bare lymphocyte syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... | GARD | Bare lymphocyte syndrome 2 |
What are the symptoms of Retinoschisis of Fovea ? | What are the signs and symptoms of Retinoschisis of Fovea? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinoschisis of Fovea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | GARD | Retinoschisis of Fovea |
What are the symptoms of Dwarfism, mental retardation and eye abnormality ? | What are the signs and symptoms of Dwarfism, mental retardation and eye abnormality? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, mental retardation and eye abnormality. If the information is available, the table below includes how often the symptom is seen in people with... | GARD | Dwarfism, mental retardation and eye abnormality |
What is (are) Richter syndrome ? | Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low... | GARD | Richter syndrome |
What are the treatments for Richter syndrome ? | Are there any recent advancements in the treatment of Richter syndrome? Monoclonal antibodies (MABs) are a type of biological therapy. They are man-made proteins that target specific proteins on cancer cells. MABs are a fairly new treatment for cancer. Doctors often use the MAB drug called rituximab along with chemoth... | GARD | Richter syndrome |
What is (are) Spondylothoracic dysostosis ? | Spondylothoracic dysostosis is a rare condition that affects the bones of the spine and the ribs. Signs and symptoms are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally fused vertebrae (bones of the spine); a... | GARD | Spondylothoracic dysostosis |
What are the symptoms of Spondylothoracic dysostosis ? | What are the signs and symptoms of spondylothoracic dysostosis? Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a "crab-l... | GARD | Spondylothoracic dysostosis |
Is Spondylothoracic dysostosis inherited ? | Is spondylothoracic dysostosis genetic? Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion. | GARD | Spondylothoracic dysostosis |
What are the treatments for Spondylothoracic dysostosis ? | What treatment is available for spondylothoracic dysostosis? Many infants born with spondylothoracic dysostosis have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing l... | GARD | Spondylothoracic dysostosis |
What are the symptoms of Spastic paraplegia 14 ? | What are the signs and symptoms of Spastic paraplegia 14? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | GARD | Spastic paraplegia 14 |
What are the symptoms of Cerebral palsy ataxic ? | What are the signs and symptoms of Cerebral palsy ataxic? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral palsy ataxic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | GARD | Cerebral palsy ataxic |
What is (are) Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? | Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy is a neurological condition described by Iwashita et al. in 1969 in a Korean brother and sister. This condition is characterized by variable degrees of hearing loss, distal weakness and loss of muscle tissue (atrophy) in the upper limbs, variabl... | GARD | Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy |
What are the symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy ? | What are the signs and symptoms of Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy. If the information is available, the table below i... | GARD | Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy |
What are the symptoms of Ruvalcaba syndrome ? | What are the signs and symptoms of Ruvalcaba syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ruvalcaba syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... | GARD | Ruvalcaba syndrome |
What is (are) Papillary renal cell carcinoma ? | Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projecti... | GARD | Papillary renal cell carcinoma |
What are the symptoms of Papillary renal cell carcinoma ? | What are the signs and symptoms of Papillary renal cell carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary renal cell carcinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | GARD | Papillary renal cell carcinoma |
What is (are) Acute respiratory distress syndrome ? | Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that prevents enough oxygen from getting to the lungs and into the blood. People who develop ARDS often are very ill with another disease or have major injuries. The condition leads to a buildup of fluid in the air sacs which prevents enou... | GARD | Acute respiratory distress syndrome |
What are the treatments for Acute respiratory distress syndrome ? | How might acute respiratory distress syndrome (ARDS) be treated? Typically people with ARDS need to be in an intensive care unit (ICU). The goal of treatment is to provide breathing support and treat the cause of ARDS. This may involve medications to treat infections, reduce inflammation, and remove fluid from the lung... | GARD | Acute respiratory distress syndrome |
What is (are) Adolescent idiopathic scoliosis ? | Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "s" or "C" shape, and the bones of the spine become slightly twisted or rotated. In many cases, the abnor... | GARD | Adolescent idiopathic scoliosis |
What are the symptoms of Adolescent idiopathic scoliosis ? | What are the symptoms of adolescent idiopathic scoliosis? Adolescent idiopathic scoliosis is characterized by an abnormal curvature of the spine (usually in an elongated "S" or "C" shape), along with twisted or rotated bones of the spine. Mild scoliosis generally does not cause pain, problems with movement, or difficul... | GARD | Adolescent idiopathic scoliosis |
What causes Adolescent idiopathic scoliosis ? | What causes adolescent idiopathic scoliosis? The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal... | GARD | Adolescent idiopathic scoliosis |
Is Adolescent idiopathic scoliosis inherited ? | Is adolescent idiopathic scoliosis inherited? Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors ap... | GARD | Adolescent idiopathic scoliosis |
What are the treatments for Adolescent idiopathic scoliosis ? | How might adolescent idiopathic scoliosis be treated? Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-... | GARD | Adolescent idiopathic scoliosis |
What is (are) Carnitine palmitoyltransferase 2 deficiency ? | Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The ... | GARD | Carnitine palmitoyltransferase 2 deficiency |
What are the symptoms of Carnitine palmitoyltransferase 2 deficiency ? | What are the signs and symptoms of Carnitine palmitoyltransferase 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine palmitoyltransferase 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this cond... | GARD | Carnitine palmitoyltransferase 2 deficiency |
What are the symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias ? | What are the signs and symptoms of Preaxial deficiency, postaxial polydactyly and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial deficiency, postaxial polydactyly and hypospadias. If the information is available, the table below includes how often the symptom is... | GARD | Preaxial deficiency, postaxial polydactyly and hypospadias |
What are the symptoms of Methionine adenosyltransferase deficiency ? | What are the signs and symptoms of Methionine adenosyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Methionine adenosyltransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | GARD | Methionine adenosyltransferase deficiency |
What is (are) Jervell Lange-Nielsen syndrome ? | Jervell Lange-Nielsen syndrome is a form of long QT syndrome. Symptoms include deafness from birth, arrhythmia, fainting, and sudden death. There are two different types, Jervell Lange-Nielsen syndrome type 1 and 2. It is inherited in an autosomal recessive fashion. | GARD | Jervell Lange-Nielsen syndrome |
What are the symptoms of Jervell Lange-Nielsen syndrome ? | What are the signs and symptoms of Jervell Lange-Nielsen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Jervell Lange-Nielsen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | GARD | Jervell Lange-Nielsen syndrome |
What are the symptoms of Cranioacrofacial syndrome ? | What are the signs and symptoms of Cranioacrofacial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cranioacrofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M... | GARD | Cranioacrofacial syndrome |
What is (are) L-arginine:glycine amidinotransferase deficiency ? | L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic beh... | GARD | L-arginine:glycine amidinotransferase deficiency |
What are the symptoms of L-arginine:glycine amidinotransferase deficiency ? | What are the signs and symptoms of L-arginine:glycine amidinotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for L-arginine:glycine amidinotransferase deficiency. If the information is available, the table below includes how often the symptom is seen in people with... | GARD | L-arginine:glycine amidinotransferase deficiency |
What are the symptoms of Genitopatellar syndrome ? | What are the signs and symptoms of Genitopatellar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genitopatellar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medic... | GARD | Genitopatellar syndrome |
What is (are) Muscular dystrophy, congenital, merosin-positive ? | The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities ... | GARD | Muscular dystrophy, congenital, merosin-positive |
What are the symptoms of Muscular dystrophy, congenital, merosin-positive ? | What are the signs and symptoms of Muscular dystrophy, congenital, merosin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, merosin-positive. If the information is available, the table below includes how often the symptom is seen in people with... | GARD | Muscular dystrophy, congenital, merosin-positive |
What are the symptoms of Mucopolysaccharidosis type VII ? | What are the signs and symptoms of Mucopolysaccharidosis type VII? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type VII. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | GARD | Mucopolysaccharidosis type VII |
What is (are) Paraneoplastic cerebellar degeneration ? | Paraneoplastic syndromes are a group of rare disorders that include paraneoplastic cerebellar degeneration (PCD). Paraneoplastic syndromes are thought to result from an abnormal immune response to an underlying (and often undetected) malignant tumor. PCD is a rare, non-metastatic complication of cancer. PCD is typicall... | GARD | Paraneoplastic cerebellar degeneration |
What are the symptoms of Kenny-Caffey syndrome type 1 ? | What are the signs and symptoms of Kenny-Caffey syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Kenny-Caffey syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | GARD | Kenny-Caffey syndrome type 1 |
What are the symptoms of Keratitis, hereditary ? | What are the signs and symptoms of Keratitis, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratitis, hereditary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... | GARD | Keratitis, hereditary |
What is (are) Macular degeneration ? | Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which ... | GARD | Macular degeneration |
What is (are) Levator syndrome ? | Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It... | GARD | Levator syndrome |
What is (are) Glycogen storage disease type 13 ? | Glycogen storage disease type 13 (GSD13), also known as -enolase deficiency, is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSD13 is caused by changes (mutations) in the ENO3 gene and is inheri... | GARD | Glycogen storage disease type 13 |
What are the symptoms of Glycogen storage disease type 13 ? | What are the signs and symptoms of Glycogen storage disease type 13? Glycogen storage disease type 13 causes muscle pain (myalgia). Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily. The Human Phenotype Ontolog... | GARD | Glycogen storage disease type 13 |
What causes Glycogen storage disease type 13 ? | What causes glycogen storage disease type 13? Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene. Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise. The ENO3 gene makes a chemical ca... | GARD | Glycogen storage disease type 13 |
How to diagnose Glycogen storage disease type 13 ? | How is glycogen storage disease type 13 diagnosed? Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells. Genetic testing can also be done to look for changes (mutations) in the ENO3 gene. | GARD | Glycogen storage disease type 13 |
What are the symptoms of Paroxysmal ventricular fibrillation ? | What are the signs and symptoms of Paroxysmal ventricular fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal ventricular fibrillation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | GARD | Paroxysmal ventricular fibrillation |
What are the symptoms of Kasznica Carlson Coppedge syndrome ? | What are the signs and symptoms of Kasznica Carlson Coppedge syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kasznica Carlson Coppedge syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | GARD | Kasznica Carlson Coppedge syndrome |
What is (are) Interstitial cystitis ? | Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and abdomen. Symptoms may vary, but often include an urgent or frequent need to urinate. Many of the individuals affected by IC are women. Because IC varies so much in symptoms and severity, most researchers believe it is not one, b... | GARD | Interstitial cystitis |
What is (are) Pseudoangiomatous stromal hyperplasia ? | Pseudoangiomatous stromal hyperplasia (PASH) is a type of non-cancerous breast lesion. It typically affects women in the reproductive age group. The size of the lesion varies, but small microscopic PASH is much more common than larger masses. Microscopic PASH is often an incidental finding in breast biopsies done for o... | GARD | Pseudoangiomatous stromal hyperplasia |
What are the treatments for Pseudoangiomatous stromal hyperplasia ? | Is treatment available for pseudoangiomatous stromal hyperplasia (PASH)? Surgical removal of the PASH lesions has been performed in some individuals. A wide margin around the mass may be removed to prevent recurrence. Although PASH lesions often grow over time and may recur, they are neither associated with malignancy ... | GARD | Pseudoangiomatous stromal hyperplasia |
What is (are) Fabry disease ? | Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of sm... | GARD | Fabry disease |
What are the symptoms of Fabry disease ? | What are the signs and symptoms of Fabry disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Fabry disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... | GARD | Fabry disease |
Is Fabry disease inherited ? | How is Fabry disease inherited? Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome. In males (who have only one X chromosome), one mutated copy of the gene is enough to cause symptoms of the condition. Because females have two copies of ... | GARD | Fabry disease |
What are the treatments for Fabry disease ? | How might Fabry disease be treated? Management for Fabry disease may include treatment of specific signs and symptoms as well as prevention of secondary complications. Treatment for acroparesthesias (pain in the extremities) may include diphenylhydantoin and/or carbamazepine to reduce the frequency and severity of pain... | GARD | Fabry disease |
What is (are) Andermann syndrome ? | Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progress... | GARD | Andermann syndrome |
What are the symptoms of Andermann syndrome ? | What are the signs and symptoms of Andermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Andermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction... | GARD | Andermann syndrome |
What are the symptoms of Westphal disease ? | What are the signs and symptoms of Westphal disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Westphal disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... | GARD | Westphal disease |
What is (are) Schwartz Jampel syndrome type 1 ? | Schwartz Jampel syndrome type 1 (SJS1) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures, short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision). SJS1 ... | GARD | Schwartz Jampel syndrome type 1 |
What are the symptoms of Schwartz Jampel syndrome type 1 ? | What are the signs and symptoms of Schwartz Jampel syndrome type 1? Individuals with Schwartz-Jampel syndrome type 1 (SJS1) have characteristic facial features, muscle weakness (hypotonia), and muscle stiffness (myotonia). Facial features of individuals with SJS1 can seem "fixed" in the same expression with puckered li... | GARD | Schwartz Jampel syndrome type 1 |
What causes Schwartz Jampel syndrome type 1 ? | What causes Schwartz Jampel syndrome type 1? Schwartz Jampel syndrome type 1 (SJS1) is caused by mutations in the HSPG2 gene. The HSPG2 gene codes for the protein perlecan, which is found in muscle and cartilage. Although the role of the perlecan protein is not fully understood, it is thought to play an essential role ... | GARD | Schwartz Jampel syndrome type 1 |
Is Schwartz Jampel syndrome type 1 inherited ? | How is Schwartz Jampel syndrome type 1 inherited? The majority of cases of Schwartz Jampel syndrome type 1 (SJS1) are inherited in an autosomal recessive pattern. This means that to have the disorder, a person must have a mutation in both copies of the responsible gene in each cell. Individuals with SJS1 inherit one mu... | GARD | Schwartz Jampel syndrome type 1 |
How to diagnose Schwartz Jampel syndrome type 1 ? | How is Schwartz Jampel syndrome type 1 diagnosed? The diagnosis of Schwartz Jampel syndrome type 1 (SJS1) is suspected based on clinical findings including characteristic facial features, skeletal features, and muscle stiffness (myotonia). Studies that may be useful in diagnosing SJS1 include: blood tests (which may s... | GARD | Schwartz Jampel syndrome type 1 |
What are the treatments for Schwartz Jampel syndrome type 1 ? | How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises. Medications that might be utilized include ... | GARD | Schwartz Jampel syndrome type 1 |
What are the symptoms of Nephropathy, deafness, and hyperparathyroidism ? | What are the signs and symptoms of Nephropathy, deafness, and hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathy, deafness, and hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with thi... | GARD | Nephropathy, deafness, and hyperparathyroidism |
What are the symptoms of ADULT syndrome ? | What are the signs and symptoms of ADULT syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for ADULT syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to l... | GARD | ADULT syndrome |
What are the symptoms of Corneal hypesthesia, familial ? | What are the signs and symptoms of Corneal hypesthesia, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal hypesthesia, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | GARD | Corneal hypesthesia, familial |
What are the symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy ? | What are the signs and symptoms of Spondylometaphyseal dysplasia with cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with cone-rod dystrophy. If the information is available, the table below includes how often the symptom is seen in p... | GARD | Spondylometaphyseal dysplasia with cone-rod dystrophy |
What are the symptoms of X-linked intellectual disability, Najm type ? | What are the signs and symptoms of X-linked intellectual disability, Najm type? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked intellectual disability, Najm type. If the information is available, the table below includes how often the symptom is seen in people with this cond... | GARD | X-linked intellectual disability, Najm type |
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