sarnsrun/medquad huggingface dataset:
Topic: Mandibulofacial dysostosis with microcephaly
Question: Is Mandibulofacial dysostosis with microcephaly inherited ?
Answer: How is mandibulofacial dysostosis with microcephaly inherited? Mandibulofacial dysostosis with microcephaly (MFDM) is inherited in an autosomal dominant manner. This means that having one mutated copy of the responsible gene in each cell of the body is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. Most cases of MFDM are due to new mutations that occur for the first time in the affected person (called de novo mutations), and are not inherited from a parent. In other cases, an affected person inherits the mutation from a parent. The parent may be mildly affected or may be unaffected. Sometimes, an unaffected parent has the mutation only in some or all of their sperm or egg cells (not their body cells), which is known as germline mosaicism.
Source: GARD
Topic: Mandibulofacial dysostosis with microcephaly
Question: How to diagnose Mandibulofacial dysostosis with microcephaly ?
Answer: Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is sequence analysis of the EFTUD2 gene to identify a mutation (which detects ~91% of affected people), and the other is deletion analysis (which detects ~9%), for people in whom sequencing does not detect a mutation. When a diagnosis of MFDM is strongly suspected but genetic testing is inconclusive, a clinical diagnosis may still be appropriate. However, given the high sensitivity of genetic testing for this condition, other disorders with overlapping features should first be carefully considered. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Source: GARD
Topic: Mandibulofacial dysostosis with microcephaly
Question: What are the treatments for Mandibulofacial dysostosis with microcephaly ?
Answer: How might mandibulofacial dysostosis with microcephaly be treated? Individualized treatment of craniofacial features is managed by a multidisciplinary team which may include various specialists. Surgery may be needed for a variety of abnormalities, in the newborn period or beyond. Treatment of hearing loss is individualized, and may involve conventional hearing aids, bone-anchored hearing aid, and/or cochlear implants. Occupational, physical, and/or speech/language therapies are involved as needed to optimize developmental outcome. Additional treatment information is available on GeneReviews' Web site.
Source: GARD
Topic: Limb-girdle muscular dystrophy type 2H
Question: What are the symptoms of Limb-girdle muscular dystrophy type 2H ?
Answer: What are the signs and symptoms of Limb-girdle muscular dystrophy type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2H. 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) EMG abnormality 90% Gait disturbance 90% Mask-like facies 90% Myopathy 90% Tall stature 50% Areflexia - Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Centrally nucleated skeletal muscle fibers - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Exercise-induced myalgia - Facial palsy - Gowers sign - Hyporeflexia - Increased variability in muscle fiber diameter - Muscular dystrophy - Neck flexor weakness - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Phenotypic variability - Quadriceps muscle weakness - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Slow progression - Waddling gait - 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.
Source: GARD
Topic: Chronic myeloid leukemia
Question: What are the symptoms of Chronic myeloid leukemia ?
Answer: What are the signs and symptoms of Chronic myeloid leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic myeloid leukemia. 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) Chronic myelogenous leukemia - Ph-positive acute lymphoblastic leukemia - Somatic mutation - 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.
Source: GARD
Topic: WAGR syndrome
Question: What is (are) WAGR syndrome ?
Answer: WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.
Source: GARD
Topic: WAGR syndrome
Question: What are the symptoms of WAGR syndrome ?
Answer: What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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) Aniridia 90% Aplasia/Hypoplasia of the iris 90% Cognitive impairment 90% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hearing abnormality 50% Hypospadias 50% Intellectual disability 50% Microcephaly 50% Nephroblastoma (Wilms tumor) 50% Nystagmus 50% Ptosis 50% Short stature 50% Visual impairment 50% Nephropathy 40% Abnormality of the vagina 33% Streak ovary 33% Abnormality of the uterus 7.5% Glaucoma 7.5% Gonadoblastoma 7.5% Hernia of the abdominal wall 7.5% Obesity 7.5% Scoliosis 7.5% Renal insufficiency 10/46 Autosomal dominant inheritance - Contiguous gene syndrome - Somatic mutation - 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.
Source: GARD
Topic: Oculocutaneous albinism type 2
Question: What is (are) Oculocutaneous albinism type 2 ?
Answer: Oculocutaneous albinism type 2 is a genetic condition that affects the coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. This condition also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; nystagmus and strabismus; and increased sensitivity to light (photophobia). This condition is caused by mutations in the OCA2 gene and is inherited in an autosomal recessive fashion.
Source: GARD
Topic: Oculocutaneous albinism type 2
Question: What are the symptoms of Oculocutaneous albinism type 2 ?
Answer: What are the signs and symptoms of Oculocutaneous albinism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism 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) Ocular albinism 90% Freckling 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Melanoma 7.5% Neoplasm of the skin 7.5% Strabismus 7.5% Albinism - Autosomal recessive inheritance - Blue irides - Freckles in sun-exposed areas - Hypopigmentation of the fundus - Hypoplasia of the fovea - Red hair - Reduced visual acuity - 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.
Source: GARD
Topic: Chiari malformation type 1
Question: What is (are) Chiari malformation type 1 ?
Answer: Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance. It involves the extension of the lower part of the cerebellum into the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem. Normally, only the spinal cord passes through this opening. This malformation is the most common type of Chiari malformation and may not cause any symptoms. Depending on the symptoms present and severity, some individuals may not require treatment while others may require pain medications or surgery.
Source: GARD
Topic: Chiari malformation type 1
Question: What are the symptoms of Chiari malformation type 1 ?
Answer: What are the signs and symptoms of Chiari malformation type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Chiari malformation 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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia of upper limbs - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Babinski sign - Basilar impression - Diplopia - Dysarthria - Dysphagia - Gait ataxia - Headache - Hearing impairment - Hyperacusis - Limb muscle weakness - Lower limb hyperreflexia - Lower limb spasticity - Nystagmus - Paresthesia - Photophobia - Scoliosis - Small flat posterior fossa - Syringomyelia - Tinnitus - Unsteady gait - Urinary incontinence - Vertigo - 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.
Source: GARD
Topic: Chiari malformation type 1
Question: What causes Chiari malformation type 1 ?
Answer: What causes Chiari malformation type 1? Primary or congenital Chiari malformations are caused by structural defects in the brain and spinal cord that occur during fetal development. The underlying cause of the structural defects are not completely understood, but may involve genetic mutations or lack of proper vitamins or nutrients in the maternal diet. Less frequently, Chiari malformation type 1 is acquired after birth. Causes of acquired Chiari malformation type 1 involve the excessive draining of spinal fluid from the lumbar or thoracic areas of the spine as a result of injury, exposure to harmful substances, or infection. Click here to view a diagram of the spine.
Source: GARD
Topic: Chiari malformation type 1
Question: What are the treatments for Chiari malformation type 1 ?
Answer: How might Chiari malformation type 1 be treated? Some individuals with Chiari malformation type 1 are asymptomatic and do not require treatment. Individuals who have minimal symptoms, without syringomyelia, can typically be treated conservatively. Mild neck pain and headaches can usually be treated with pain medications, muscle relaxants, and the occasional use of a soft collar. Individuals with more severe symptoms may be in need of surgery. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. The goals of surgical treatment are decompression of the point where the skull meets the spine (the cervicomedullary junction) and restoration of normal flow of cerebrospinal fluid in the region of the foramen magnum (the hole in the bottom of the skull where the spinal cord passes to connect to the brain). Prognosis after surgery for the condition is generally good and typically depends on the extent of neurological deficits that were present before the surgery. Most individuals have a reduction of symptoms and/or prolonged periods of relative stability. More than one surgery may be needed to treat the condition.
Source: GARD
Topic: Neonatal intrahepatic cholestasis caused by citrin deficiency
Question: What is (are) Neonatal intrahepatic cholestasis caused by citrin deficiency ?
Answer: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from processing certain nutrients properly. This leads to transient intrahepatic cholestasis and variable liver dysfunction in children younger than one year of age. NICCD is generally not severe, and symptoms disappear by age one year with appropriate treatment. Years or even decades later, however, some of these individuals develop the characteristic features of adult-onset type II citrullinemia. NICCD is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.
Source: GARD
Topic: Neonatal intrahepatic cholestasis caused by citrin deficiency
Question: What are the symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency ?
Answer: What are the signs and symptoms of Neonatal intrahepatic cholestasis caused by citrin deficiency? Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by transient intrahepatic cholestasis, diffuse fatty liver, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, decreased coagulation factors, hemolytic anemia, hepatomegaly, variable liver dysfunction, and/or hypoglycemia in children younger than one year of age. NICCD is generally not severe, and symptoms typically disappear by age one year with appropriate treatment. At around age two, children with NICCD begin to show a particular fondness for protein-rich and fatty foods and an aversion to sugary and carbohydrate-rich foods. One of more decades later, some of these individuals develop neuropsychiatric symptoms characteristic of adult-onset citrullinemia type II.   The Human Phenotype Ontology provides the following list of signs and symptoms for Neonatal intrahepatic cholestasis caused by citrin deficiency. 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) Autosomal recessive inheritance - Cirrhosis - Elevated plasma citrulline - Failure to thrive - Growth delay - Hyperbilirubinemia - Hypercholesterolemia - Hypermethioninemia - Hypertriglyceridemia - Hypoalphalipoproteinemia - Intrahepatic cholestasis - 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.
Source: GARD
Topic: Autosomal dominant nocturnal frontal lobe epilepsy
Question: What is (are) Autosomal dominant nocturnal frontal lobe epilepsy ?
Answer: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep to severe, dramatic muscle spasm events. Some people with ADNFLE also have seizures during the day. Some episodes may be misdiagnosed as nightmares, night terrors, or panic attacks. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In many cases, the genetic cause remains unknown. Seizures can usually be controlled with antiseizure medications.
Source: GARD