fenil210/Med-Lamma huggingface dataset:
What causes Dihydropyrimidine dehydrogenase deficiency ?
What causes dihydropyrimidine dehydrogenase (DPD) deficiency? DPD deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD), which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are building blocks of DNA, RNA, and molecules that serve as energy sources in cells. Mutations in the DPYD gene result in deficiencies (to various degrees) of functional DPD, interfering with the breakdown of uracil and thymine in cells. This results in excessive amounts of uracil and thymine in the blood, urine, and the fluid that surrounds the brain and spinal cord. It is currently poorly understood exactly how this cascade of events causes the signs and symptoms of the condition. + GARD + Dihydropyrimidine dehydrogenase deficiency
Is Dihydropyrimidine dehydrogenase deficiency inherited ?
How is dihydropyrimidine dehydrogenase deficiency inherited? Dihydropyrimidine dehydrogenase (DPD) deficiency is inherited in an autosomal recessive manner. This means that in affected individuals, both copies of the DPYD gene in each cell (one inherited from each parent) have mutations. The mutations that cause DPD deficiency vary widely in severity; therefore, some people with 2 mutated copies of the gene may have signs and symptoms of the condition, while others may be asymptomatic. However, all individuals with 2 mutations are at risk for toxic reactions to fluoropyrimidine drugs. Individuals who carry one mutated copy of the disease-causing gene (including most parents of affected individuals) are referred to as carriers. Carriers typically do not have signs and symptoms of the condition. However, people with one mutated copy of the DPYD gene may still experience toxic reactions to fluoropyrimidine drugs. When 2 carriers for the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier. A child of one carrier parent has a 50% risk to also be a carrier. + GARD + Dihydropyrimidine dehydrogenase deficiency
How to diagnose Dihydropyrimidine dehydrogenase deficiency ?
How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, which has led to the development of a radioenzymatic test for the DPD enzyme. This test has remained the gold standard for diagnosing DPD deficiency even after the development of genetic testing for the condition, because of the complexity of the DPYD gene and the presence of multiple DNA sequence variations present in most affected individuals. Various types of cells and tissues can be examined this way. More recently, a rapid, noninvasive, and cost-effective breath test was developed. This test permits the evaluation of DPD activity (normal activity and partial or profound deficiency) before the administration of fluoropyrmidine drugs such as 5-FU. + GARD + Dihydropyrimidine dehydrogenase deficiency
What are the treatments for Dihydropyrimidine dehydrogenase deficiency ?
How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children? Currently, no treatment or cure exists for the inborn error of metabolism form of DHD deficiency. Symptoms usually remain the same throughout the person's life. + GARD + Dihydropyrimidine dehydrogenase deficiency
What are the symptoms of Bile acid synthesis defect, congenital, 4 ?
What are the signs and symptoms of Bile acid synthesis defect, congenital, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Bile acid synthesis defect, congenital, 4. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the coagulation cascade - Autosomal recessive inheritance - Elevated hepatic transaminases - Failure to thrive - Fat malabsorption - Giant cell hepatitis - Hepatic failure - Hepatomegaly - Hyperbilirubinemia - Intrahepatic cholestasis - Neonatal onset - Prolonged neonatal jaundice - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Bile acid synthesis defect, congenital, 4
What is (are) Osteopetrosis autosomal dominant type 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 can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis. + GARD + Osteopetrosis autosomal dominant type 2
What are the symptoms of Osteopetrosis autosomal dominant type 2 ?
What are the signs and symptoms of Osteopetrosis autosomal dominant type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant type 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 Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Aseptic necrosis 90% Bone pain 90% Facial palsy 90% Frontal bossing 90% Joint dislocation 90% Macrocephaly 90% Osteoarthritis 90% Osteomyelitis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Anemia 50% Genu valgum 50% Optic atrophy 50% Short stature 50% Visual impairment 50% Abnormality of leukocytes 7.5% Carious teeth 7.5% Hearing impairment 7.5% Hydrocephalus 7.5% Hypocalcemia 7.5% Bone marrow hypocellularity 5% Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral endplates - Autosomal dominant inheritance - Elevated serum acid phosphatase - Facial paralysis - Fractures of the long bones - Generalized osteosclerosis - Hip osteoarthritis - Juvenile onset - Mandibular osteomyelitis - Osteopetrosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Osteopetrosis autosomal dominant type 2
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 4 ?
What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 4. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Decreased nerve conduction velocity 90% Muscle weakness 90% Pes cavus 90% Skeletal muscle atrophy 90% Cognitive impairment 50% Hearing impairment 50% Impaired pain sensation 50% Kyphosis 50% Scoliosis 50% Gait disturbance 7.5% Incoordination 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Sensorineural hearing impairment 5% Elevated serum creatine phosphokinase - Intellectual disability - Motor axonal neuropathy - Sensory neuropathy - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + X-linked Charcot-Marie-Tooth disease type 4
What is (are) Choroideremia ?
Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern. + GARD + Choroideremia
What are the symptoms of Choroideremia ?
What are the signs and symptoms of Choroideremia? The Human Phenotype Ontology provides the following list of signs and symptoms for Choroideremia. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Myopia 90% Nyctalopia 90% Visual impairment 90% Chorioretinal atrophy - Chorioretinal degeneration - Choroideremia - Constriction of peripheral visual field - Progressive visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Choroideremia
What are the symptoms of Achard syndrome ?
What are the signs and symptoms of Achard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Achard 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly - Autosomal dominant inheritance - Brachycephaly - Broad skull - Joint laxity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Achard syndrome
What is (are) Geroderma osteodysplastica ?
Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene. + GARD + Geroderma osteodysplastica
What are the symptoms of Geroderma osteodysplastica ?
What are the signs and symptoms of Geroderma osteodysplastica? The Human Phenotype Ontology provides the following list of signs and symptoms for Geroderma osteodysplastica. 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cutis laxa 90% Hyperextensible skin 90% Joint hypermobility 90% Recurrent fractures 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Abnormality of the hip bone 50% Muscular hypotonia 50% Scoliosis 50% Abnormality of epiphysis morphology 7.5% Cognitive impairment 7.5% Hernia 7.5% Hypoplasia of the zygomatic bone 7.5% Mandibular prognathia 7.5% Microcornea 7.5% Pectus carinatum 7.5% Pes planus 7.5% Platyspondyly 7.5% Prematurely aged appearance 7.5% Talipes 7.5% Autosomal recessive inheritance - Beaking of vertebral bodies - Biconcave vertebral bodies - Camptodactyly - Deeply set eye - Delayed speech and language development - Femoral bowing - Hyperextensibility of the finger joints - Hypoplasia of the maxilla - Intellectual disability - Malar flattening - Microcephaly - Osteopenia - Osteoporosis - Periodontitis - Severe short stature - Tibial bowing - Vertebral compression fractures - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Geroderma osteodysplastica
What is (are) Juvenile Huntington disease ?
Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Juvenile HD is defined by the onset of symptoms before age 20 years and accounts for 5-10% of HD cases. It is inherited in an autosomal dominant pattern and is caused by a mutation called a trinucleotide repeat in the HTT gene. Most often, children with juvenile HD inherit the mutation repeat from their fathers, although on occasion they inherit it from their mothers. Juvenile Huntington disease has a rapid disease progression once symptoms present. There currently is no cure. Treatment is supportive and focused on increasing quality of life. + GARD + Juvenile Huntington disease
What are the symptoms of Juvenile Huntington disease ?
What are the signs and symptoms of Juvenile Huntington disease? A common sign of juvenile HD is a rapid decline in school performance. Symptoms can also include subtle changes in handwriting and slight problems with movement, such as slowness, rigidity, tremor, and rapid muscular twitching, called myoclonus. Several of these symptoms are similar to those seen in Parkinson's disease, and they differ from the chorea seen in individuals who develop the disease as adults. People with juvenile HD may also have seizures and mental disabilities. The earlier the onset, the faster the disease seems to progress. The disease progresses most rapidly in individuals with juvenile or early-onset HD, and death often follows within 10 years. The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile Huntington 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 50% Abnormality of the voice 50% Behavioral abnormality 50% Cerebral cortical atrophy 50% Developmental regression 50% EEG abnormality 50% Hypertonia 50% Rigidity 7.5% Abnormality of eye movement - Autosomal dominant inheritance - Bradykinesia - Chorea - Dementia - Depression - Gliosis - Hyperreflexia - Neuronal loss in central nervous system - Personality changes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Juvenile Huntington disease
What causes Juvenile Huntington disease ?
What causes Juvenile Huntington disease (HD)? Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. When the huntingtin protein is abnormally made, it is thought to lead to the death of neurons in certain areas of the brain, which causes the signs and symptoms of Juvenile HD. The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with juvenile HD, the CAG segment is repeated more than 60 times. + GARD + Juvenile Huntington disease
Is Juvenile Huntington disease inherited ?
How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms (anticipation). A larger number of repeats is usually associated with an earlier onset of signs and symptoms. Most often, children with juvenile HD inherit the expanded CAG trinucleotide repeat from their fathers, although on occasion they inherit it from their mothers. + GARD + Juvenile Huntington disease
How to diagnose Juvenile Huntington disease ?
How is Juvenile Huntington disease (HD) diagnosed? The diagnosis is usually made by experienced neurologists. A neurologist will often first obtain the persons medical history asking about recent intellectual or emotional problems, which may be indications of HD. A family history may be taken as well, looking for autosomal dominant inheritance in a family. Usually a clinical exam is also performed where the persons hearing, eye movements, strength, coordination, involuntary movements (chorea), sensation, reflexes, balance, movement, and mental status are examined. People with HD commonly have impairments in the way the eye follows or fixes on a moving target. Abnormalities of eye movements vary from person to person and differ, depending on the stage and duration of the illness. Genetic testing is usually done to confirm a diagnosis of juvenile HD in an individual who is exhibiting HD-like symptoms. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of repeats in the HD gene region.  GeneTests lists the names of laboratories that are performing genetic testing for Juvenile HD. To view the contact information for the clinical laboratories, conducting testing click here. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you. + GARD + Juvenile Huntington disease