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What is (are) Trichorhinophalangeal syndrome type 3 ? | Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger ... | |
What are the symptoms of Trichorhinophalangeal syndrome type 3 ? | What are the signs and symptoms of Trichorhinophalangeal syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What is (are) Lactate dehydrogenase deficiency ? | Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency... | |
What is (are) Immunotactoid glomerulopathy ? | Immunotactoid glomerulopathy, also known as glomerulonephritis with organized monoclonal microtubular immunoglobulin deposits (GOMMID), is a very uncommon cause of glomerular disease. It is related to a similar disease known as fibrillary glomerulopathy, which is more common. Both disorders probably result from deposi... | |
What is (are) Hemolytic uremic syndrome ? | Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this... | |
What are the symptoms of Hemolytic uremic syndrome ? | What are the signs and symptoms of Hemolytic uremic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic uremic 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... | |
What causes Hemolytic uremic syndrome ? | What causes hemolytic uremic syndrome? Hemolytic uremic syndrome often occurs after a gastrointestinal infections with E. coli bacteria (Escherichia coli 0157:H7). The condition has also been linked to other gastrointestinal infections, including shigella and salmonella, as well as infections outside of the gastrointes... | |
What is (are) Polydactyly ? | Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in associat... | |
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... | |
What is (are) Doyne honeycomb retinal dystrophy ? | Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a hone... | |
What are the symptoms of Doyne honeycomb retinal dystrophy ? | What are the signs and symptoms of Doyne honeycomb retinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Doyne honeycomb retinal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
Is Doyne honeycomb retinal dystrophy inherited ? | How is Doyne honeycomb retinal dystrophy inherited? Doyne honeycomb retinal dystrophy (DHRD) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal ... | |
What are the treatments for Doyne honeycomb retinal dystrophy ? | How might Doyne honeycomb retinal dystrophy (DHRD) be treated? There is currently no cure for Doyne honeycomb retinal dystrophy (DHRD) and treatment options are limited. Management of hereditary retinal dystrophies generally focuses on vision rehabilitation, which involves the use of low vision aids, orientation, and m... | |
What is (are) Apocrine carcinoma ? | Apocrine carcinoma is a cancer of a sweat gland. Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body. The cause of apocrine carcinoma is unknown. Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in c... | |
What are the symptoms of Neuhauser Eichner Opitz syndrome ? | What are the signs and symptoms of Neuhauser Eichner Opitz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuhauser Eichner Opitz 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... | |
What are the symptoms of Chondrodysplasia with joint dislocations, GPAPP type ? | What are the signs and symptoms of Chondrodysplasia with joint dislocations, GPAPP type? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia with joint dislocations, GPAPP type. If the information is available, the table below includes how often the symptom is seen in peo... | |
What is (are) Cohen syndrome ? | Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper cent... | |
What are the symptoms of Cohen syndrome ? | What are the signs and symptoms of Cohen syndrome? The signs and symptoms of Cohen syndrome may vary greatly from person to person. Some studies have suggested that a large number of people with Cohen syndrome have similar facial features regardless of ethnic background, including thick hair and eyebrows, long eyelashe... | |
How to diagnose Cohen syndrome ? | How is Cohen syndrome diagnosed? The diagnosis of Cohen syndrome is based on the symptoms present in the patient, but because the symptoms vary greatly from person to person, no consensus diagnostic criteria exist. Genetic testing is available for COH1, the only gene known to be associated with Cohen syndrome. However,... | |
What are the treatments for Cohen syndrome ? | How is Cohen syndrome treated? There is no cure for Cohen syndrome. Treatment is focused on improving or alleviating the signs and symptoms in the patient. Typically, when a person is first diagnosed with Cohen syndrome, he or she will undergo an eye and blood examination. If vision problems are detected, early correct... | |
What are the symptoms of Coxa vara, congenital ? | What are the signs and symptoms of Coxa vara, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Coxa vara, congenital. 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... | |
What are the symptoms of Isotretinoin embryopathy like syndrome ? | What are the signs and symptoms of Isotretinoin embryopathy like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Isotretinoin embryopathy like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What is (are) 47, XYY syndrome ? | 47, XYY syndrome is a condition in males characterized by features that occur due to having an extra copy of the Y chromosome in each cell. Signs and symptoms can vary and range from barely noticeable to more severe; many men with the extra Y chromosome are completely unaware of its presence. Appearance and intelligenc... | |
What causes 47, XYY syndrome ? | What causes 47, XYY syndrome? 47,XYY syndrome is caused by the presence of an extra copy of the Y chromosome in each of a male's cells. This is typically due to a random event during the formation of a sperm cell in the father, usually before conception (fertilization of the egg). In this case, the father's two Y chrom... | |
Is 47, XYY syndrome inherited ? | Is 47, XYY syndrome inherited? 47, XYY syndrome is usually not inherited. It is typically due to a random event during the formation of a sperm cell. Recurrence of 47, XYY syndrome in a family is rare. The recurrence risk for siblings and other family members is not thought to be increased. Additionally, men with 47, X... | |
What are the symptoms of Malignant hyperthermia susceptibility type 3 ? | What are the signs and symptoms of Malignant hyperthermia susceptibility type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Malignant hyperthermia susceptibility type 3. If the information is available, the table below includes how often the symptom is seen in people with this co... | |
What is (are) Spinocerebellar ataxia 3 ? | Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bul... | |
What are the symptoms of Spinocerebellar ataxia 3 ? | What are the signs and symptoms of Spinocerebellar ataxia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 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 MedlinePlus Med... | |
What is (are) Pyoderma gangrenosum ? | Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, ... | |
What are the symptoms of Pyoderma gangrenosum ? | What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. 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 Dic... | |
What are the treatments for Pyoderma gangrenosum ? | How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best docum... | |
What is (are) Multiple endocrine neoplasia type 2A ? | Multiple endocrine neoplasia type 2A (MEN 2A) is is an inherited disorder caused by mutations in the RET gene. Individuals with MEN 2A are at high risk of developing medullary carcinoma of the thyroid. About 50% will develop pheochromocytoma, a tumor of the adrenal glands which may increase blood pressure. Individuals ... | |
What are the symptoms of Multiple endocrine neoplasia type 2A ? | What are the signs and symptoms of Multiple endocrine neoplasia type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
Is Multiple endocrine neoplasia type 2A inherited ? | How is multiple endocrine neoplasia type 2A inherited? Multiple endocrine neoplasia type 2A (MEN 2A) is inherited in an autosomal dominant pattern. A person with MEN 2A often inherits the altered RET gene from one parent with the condition. | |
What are the symptoms of Mesomelic dysplasia Savarirayan type ? | What are the signs and symptoms of Mesomelic dysplasia Savarirayan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mesomelic dysplasia Savarirayan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What is (are) Chromosome 1p deletion ? | Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occ... | |
What is (are) Yellow nail syndrome ? | Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is often associated with diseases of the lung or lymphedema. Yellow nail syndrome often affects older adults, though it can occur at any age. While the exact cause of t... | |
What are the symptoms of Yellow nail syndrome ? | What are the signs and symptoms of Yellow nail syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yellow nail 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 Dic... | |
What causes Yellow nail syndrome ? | Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear. There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages. These reports have been used to sug... | |
What are the treatments for Yellow nail syndrome ? | How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questio... | |
What is (are) Primary orthostatic hypotension ? | Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinsons disease, pure autonomic failure, dopamine beta-hydroxyla... | |
What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 4 ? | What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 4. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Larsen syndrome ? | Larsen syndrome is a condition that causes abnormal development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. Larsen syndrome is inherited in an autosomal d... | |
What are the symptoms of Larsen syndrome ? | What are the signs and symptoms of Larsen syndrome? The signs and symptoms of Larsen syndrome vary from person to person, but may include the following: Joint dislocation (especially of the hips, knees, and elbows) Hypermobile joints Flat, rectangular face Depressed nasal bridge Prominent forehead Widely spaced eyes (h... | |
Is Larsen syndrome inherited ? | How is Larson syndrome inherited? Larson syndrome is inherited in an autosomal dominant manner. A condition is autosomal dominant when having one copy of the changed (mutated) gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from one affect... | |
What are the symptoms of Yorifuji Okuno syndrome ? | What are the signs and symptoms of Yorifuji Okuno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yorifuji Okuno 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... | |
What is (are) Polycystic kidney disease ? | Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become... | |
What are the symptoms of Polycystic kidney disease ? | What are the signs and symptoms of Polycystic kidney disease? Signs and symptoms vary greatly from person to person. But affected individuals typically develop multiple cysts in both kidneys, which impair their ability to filter waste products from the blood. Later in the disease, the cysts cause the kidneys to become ... | |
What is (are) Non 24 hour sleep wake disorder ? | Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impair... | |
What are the symptoms of Non 24 hour sleep wake disorder ? | What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake 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 M... | |
What is (are) 3-Hydroxyisobutyric aciduria ? | 3-Hydroxyisobutyric aciduria is a rare metabolic condition in which the body is unable to breakdown certain amino acids (the building blocks of protein). This leads to a toxic buildup of particular acids known as organic acids in the blood (organic acidemia), tissues and urine (organic aciduria). Signs and symptoms of ... | |
What are the symptoms of 3-Hydroxyisobutyric aciduria ? | What are the signs and symptoms of 3-Hydroxyisobutyric aciduria? The signs and symptoms of 3-hydroxyisobutyric aciduria vary but may include: Developmental delay Intellectual disability Failure to thrive Characteristic facial features including a long philtrum and small, low-set ears Unusually small head (microcephaly)... | |
What causes 3-Hydroxyisobutyric aciduria ? | What causes 3-hydroxyisobutyric aciduria? In many affected people, the exact underlying cause of 3-hydroxyisobutyric aciduria is poorly understood. Scientists believe that some cases are caused by changes (mutations) in the ALDH6A1 gene. This gene encodes an enzyme called methylmalonate semialdehyde dehydrogenase, whic... | |
Is 3-Hydroxyisobutyric aciduria inherited ? | Is 3-hydroxyisobutyric aciduria inherited? Cases of 3-hydroxyisobutyric aciduria thought to be caused by changes (mutations) in the ALDH6A1 gene are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents ... | |
What are the treatments for 3-Hydroxyisobutyric aciduria ? | How might 3-hydroxyisobutyric aciduria be treated? There is no cure for 3-hydroxyisobutyric aciduria. Because it is so rare, there is limited evidence to support the effectiveness of treatment. However, affected people have been treated with a protein-restricted diet and carnitine supplementation with varying degrees o... | |
What is (are) Limb-girdle muscular dystrophy type 2I ? | Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the co... | |
What are the symptoms of Limb-girdle muscular dystrophy type 2I ? | What are the signs and symptoms of Limb-girdle muscular dystrophy type 2I? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | |
What are the symptoms of Deafness conductive ptosis skeletal anomalies ? | What are the signs and symptoms of Deafness conductive ptosis skeletal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness conductive ptosis skeletal anomalies. If the information is available, the table below includes how often the symptom is seen in people with this ... | |
What are the symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation ? | What are the signs and symptoms of Microcephaly, holoprosencephaly, and intrauterine growth retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly, holoprosencephaly, and intrauterine growth retardation. If the information is available, the table below includes how ... | |
What is (are) Aromatic L-amino acid decarboxylase deficiency ? | Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system. Individuals affected by this condition often have severe movement disorders, abnormal eye movements, autonomic symptoms, and neurological impairment. The c... | |
What are the symptoms of Aromatic L-amino acid decarboxylase deficiency ? | What are the signs and symptoms of Aromatic L-amino acid decarboxylase deficiency? Symptoms, which typically present during the first year of life, include severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). This con... | |
What are the symptoms of Dermoids of cornea ? | What are the signs and symptoms of Dermoids of cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermoids of cornea. 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... | |
What are the symptoms of Syndactyly type 9 ? | What are the signs and symptoms of Syndactyly type 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly type 9. 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 Dictionar... | |
What is (are) Dextrocardia with situs inversus ? | Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the or... | |
What causes Dextrocardia with situs inversus ? | What causes dextrocardia with situs inversus? The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the b... | |
Is Dextrocardia with situs inversus inherited ? | Is dextrocardia with situs inversus inherited? In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal... | |
How to diagnose Dextrocardia with situs inversus ? | How is dextrocardia with situs inversus diagnosed? In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomogra... | |
What are the treatments for Dextrocardia with situs inversus ? | How might dextrocardia with situs inversus be treated? Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery. The management of people aff... | |
What is (are) Osteogenesis imperfecta type VI ? | Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. When viewed under a microscope, bone tissue has a distinct "fish-scale" pattern. Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6... | |
What are the symptoms of Osteogenesis imperfecta type VI ? | What are the signs and symptoms of Osteogenesis imperfecta type VI? Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology). People with this condition have bones that are thin (oste... | |
Is Osteogenesis imperfecta type VI inherited ? | How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each ... | |
How to diagnose Osteogenesis imperfecta type VI ? | Is genetic testing available for osteogenesis imperfecta? Genetic testing is available for individuals with osteogenesis imperfecta. The rate for detecting mutations in the genes that are responsible for OI varies depending on the type. Carrier testing may be available to relatives of affected individuals if the type o... | |
What is (are) Cerebellar degeneration ? | Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain ste... | |
What are the symptoms of Cerebellar degeneration ? | What are the signs and symptoms of cerebellar degeneration? Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body. Other signs and symptoms may include slow, unsteady and jerky movement of the arms or ... | |
What causes Cerebellar degeneration ? | What causes cerebellar degeneration? Cerebellar degeneration can be caused by a variety of different conditions. Neurological diseases that can lead to cerebellar degeneration include: Acute and hemorrhagic stroke can result in a lack of blood flow or oxygen to the brain, leading to the death of neurons in the cerebell... | |
Is Cerebellar degeneration inherited ? | Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum... | |
How to diagnose Cerebellar degeneration ? | How is cerebellar degeneration diagnosed? A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm t... | |
What are the treatments for Cerebellar degeneration ? | How might cerebellar degeneration be treated? There is currently no cure for hereditary forms of cerebellar degeneration. In these cases, treatment is usually supportive and based on the signs and symptoms present in each person. For example, a variety of drugs may be used to treat gait abnormalities. Physical therapy ... | |
What is (are) Hyperkalemic periodic paralysis ? | Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which t... | |
What are the symptoms of Hyperkalemic periodic paralysis ? | What are the signs and symptoms of Hyperkalemic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperkalemic periodic paralysis. 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... | |
What are the symptoms of Charcot-Marie-Tooth disease type 1C ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Osteopetrosis autosomal recessive 4 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | |
What are the symptoms of Osteopetrosis autosomal recessive 4 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Proximal symphalangism ? | Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elb... | |
What are the symptoms of Proximal symphalangism ? | What are the signs and symptoms of Proximal symphalangism? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal symphalangism. 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... | |
How to diagnose Proximal symphalangism ? | Is genetic testing available for Cushing's symphalangism? GeneTests lists the names of laboratories that are performing genetic testing for Cushing's symphalangism. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTes... | |
What is (are) Osteopetrosis autosomal recessive 2 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... | |
What are the symptoms of Osteopetrosis autosomal recessive 2 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Dihydrolipoamide dehydrogenase deficiency ? | Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and... | |
What are the symptoms of Dihydrolipoamide dehydrogenase deficiency ? | What are the signs and symptoms of Dihydrolipoamide dehydrogenase deficiency? The signs and symptoms of dihydrolipoamide dehydrogenase (DLD) deficiency can vary widely among affected people. Early-onset DLD deficiency typically appears in early infancy with decreased muscle tone (hypotonia), lethargy, and lactic acidos... | |
What causes Dihydrolipoamide dehydrogenase deficiency ? | What causes dihydrolipoamide dehydrogenase deficiency? Dihydrolipoamide dehydrogenase (DLD) deficiency is caused by changes (mutations) in the DLD gene. This gene gives the body instructions to make an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one part of 3 different groups of enzymes that work togethe... | |
Is Dihydrolipoamide dehydrogenase deficiency inherited ? | How is dihydrolipoamide dehydrogenase deficiency inherited? Dihydrolipoamide dehydrogenase (DLD) deficiency is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carr... | |
What are the treatments for Dihydrolipoamide dehydrogenase deficiency ? | How might dihydrolipoamide dehydrogenase deficiency be treated? There are currently no consensus recommendations for the management of dihydrolipoamide dehydrogenase (DLD) deficiency. Management can be hard because various metabolic pathways are affected and 3 enzyme complexes are involved. Deficiencies in enzyme pathw... | |
What are the symptoms of Thyrotoxic periodic paralysis ? | What are the signs and symptoms of Thyrotoxic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotoxic periodic paralysis. 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... | |
What is (are) Encephalitis lethargica ? | Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes includ... | |
What are the symptoms of Pfeiffer Mayer syndrome ? | What are the signs and symptoms of Pfeiffer Mayer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pfeiffer Mayer 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... | |
What is (are) Nephropathic cystinosis ? | Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three dis... | |
What are the symptoms of Nephropathic cystinosis ? | What are the signs and symptoms of Nephropathic cystinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Nephropathic cystinosis. 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... | |
What are the symptoms of Maternal hyperphenylalaninemia ? | What are the signs and symptoms of Maternal hyperphenylalaninemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternal hyperphenylalaninemia. 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... | |
What are the symptoms of Medulloblastoma ? | What are the signs and symptoms of Medulloblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Medulloblastoma. 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... |
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