fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Pontocerebellar hypoplasia type 6 ?
What are the signs and symptoms of Pontocerebellar hypoplasia type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 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 look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Apnea - Autosomal recessive inheritance - Cerebellar atrophy - Cerebellar hypoplasia - Cerebral atrophy - Congenital onset - Death in childhood - Deeply set eye - Failure to thrive - Hyperreflexia - Increased CSF lactate - Increased serum lactate - Lower limb spasticity - Muscular hypotonia - Narrow forehead - Narrow palate - Poor head control - Poor suck - Progressive - Progressive microcephaly - Prominent nasal bridge - Seizures - Upper limb spasticity - 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 + Pontocerebellar hypoplasia type 6
What is (are) Usher syndrome, type 2C ?
Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations. + GARD + Usher syndrome, type 2C
What are the symptoms of Usher syndrome, type 2C ?
What are the signs and symptoms of Usher syndrome, type 2C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 2C. 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 - Congenital sensorineural hearing impairment - Rod-cone dystrophy - 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 + Usher syndrome, type 2C
Is Usher syndrome, type 2C inherited ?
How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected. + GARD + Usher syndrome, type 2C
What is (are) Iridocorneal endothelial syndrome ?
Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features:  Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye)  Swelling of the cornea, and  The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ICE syndrome, is more common in women than men, most commonly diagnosed in middle age, and is usually present in only one eye. The condition is actually a grouping of three closely linked conditions: Cogan-Reese syndrome; Chandler's syndrome; and essential (progressive) iris atrophy. The cause of ICE syndrome is unknown, however there is a theory that it is triggered by a virus that leads to swelling of the cornea. While there is no way to stop the progression of the condition, treatment of the symptoms may include medication for glaucoma and corneal transplant for corneal swelling. + GARD + Iridocorneal endothelial syndrome
What are the symptoms of Iridocorneal endothelial syndrome ?
What are the signs and symptoms of iridocorneal endothelial (ICE) syndrome? The most common feature of ICE syndrome is the movement of endothelial cells off the cornea onto the iris. This loss of cells from the cornea often leads to swelling of the cornea, distortion of the iris, and variable degrees of distortion of the pupil (the adjustable opening at the center of the iris that allows varying amounts of light to enter the eye). This cell movement also plugs the fluid outflow channels of the eye, causing glaucoma. + GARD + Iridocorneal endothelial syndrome
What causes Iridocorneal endothelial syndrome ?
What causes iridocorneal endothelial (ICE) syndrome? The cause of this disease is unknown. However, it has been theorized that a viral infection, such as Herpes simplex virus (HSV) or Epstein-Barr virus (EBV) may be the trigger that causes the cornea to swell. + GARD + Iridocorneal endothelial syndrome
What are the treatments for Iridocorneal endothelial syndrome ?
How might iridocorneal endothelial (ICE) syndrome be treated? It is not possible to halt the progression of ICE syndrome. Treatment is usually focused on managing the glaucoma associated with the disease, either through medication or possible surgery, to help reduce pressure in the eye. Medication and corneal transplant can also be used to treat corneal swelling. + GARD + Iridocorneal endothelial syndrome
What is (are) Duane syndrome type 2 ?
Duane syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Usually only one eye is affected. Some people with Duane syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. Most cases occur without other signs and symptoms. There are three forms of Duane syndrome, designated types 1, 2, and 3. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward and are inherited in an autosomal dominant fashion. + GARD + Duane syndrome type 2
What are the symptoms of Duane syndrome type 2 ?
What are the signs and symptoms of Duane syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Duane syndrome 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) Ophthalmoparesis 90% Strabismus 90% Anteverted nares 50% Blepharophimosis 50% Deeply set eye 50% Amblyopia 48% Abnormal form of the vertebral bodies 7.5% Abnormal localization of kidney 7.5% Abnormality of the pupil 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the radius 7.5% Aplasia/Hypoplasia of the thumb 7.5% Brachydactyly syndrome 7.5% Chorioretinal coloboma 7.5% Cleft palate 7.5% Cognitive impairment 7.5% External ear malformation 7.5% Hearing impairment 7.5% Heterochromia iridis 7.5% Microcephaly 7.5% Nystagmus 7.5% Optic atrophy 7.5% Ptosis 7.5% Seizures 7.5% Short neck 7.5% Talipes 7.5% Visual impairment 7.5% Wide nasal bridge 7.5% Autosomal dominant inheritance - Duane anomaly - 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 + Duane syndrome type 2
What is (are) Abetalipoproteinemia ?
Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia; and an eye disorder called retinitis pigmentosa. Most of the symptoms are due to defects in the absorption and transport of vitamin E. Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner. Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death. + GARD + Abetalipoproteinemia
What are the symptoms of Abetalipoproteinemia ?
What are the signs and symptoms of Abetalipoproteinemia? The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include: failure to thrive in infancy digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools) abnormal, star-shaped red blood cells (acanthocytosis) nervous system (neurologic) symptoms beginning in childhood such as slower intellectual development; peripheral neuropathy; poor muscle coordination; ataxia; and intention tremors eye (ophthalmologic) symptoms such as decreased night and color vision; retinitis pigmentosa in adolescence; and gradual deterioration of vision, often leading to blindness in the fourth decade of life The Human Phenotype Ontology provides the following list of signs and symptoms for Abetalipoproteinemia. 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) Malabsorption 90% Abnormality of movement 50% Abnormality of retinal pigmentation 50% Incoordination 50% Muscular hypotonia 50% Visual impairment 7.5% Abetalipoproteinemia - Acanthocytosis - Ataxia - Autosomal recessive inheritance - CNS demyelination - Fat malabsorption - Peripheral demyelination - Pigmentary retinal degeneration - Retinopathy - 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 + Abetalipoproteinemia
What causes Abetalipoproteinemia ?
What causes abetalipoproteinemia? Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat-soluble vitamins (vitamins A, D, E and K), and for transporting these substances in the blood. Mutations in the MTTP result in a lack of beta-lipoproteins, leading to an inability to absorb and transport these substances. This in turn leads to the nutritional and neurologic problems in affected people. + GARD + Abetalipoproteinemia
Is Abetalipoproteinemia inherited ?
How is abetalipoproteinemia inherited? Abetalipoproteinemia is 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. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier + GARD + Abetalipoproteinemia
How to diagnose Abetalipoproteinemia ?
Is genetic testing available for abetalipoproteinemia? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. 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. Prenatal testing may also be available for pregnancies at increased risk if the mutations in the family have been identified. + GARD + Abetalipoproteinemia
What are the treatments for Abetalipoproteinemia ?
How might abetalipoproteinemia be treated? A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamins (vitamin A, vitamin D, and vitamin K). Linoleic acid supplements are also recommended. Several diet changes and/or restrictions are also needed to prevent stomach problems. A low-fat diet may help with digestive symptoms; medium chain triglycerides may be used (under supervision of a specialist) as a source of fat in the diet. Management in adults typically focuses on specific complications associated with the disorder, and depends on the signs and symptoms present. Affected people may need consultations with several other types of specialists, including a lipidologist, gastroenterologist, hepatologist, ophthalmologist, and neurologist. + GARD + Abetalipoproteinemia
What are the symptoms of Short limb dwarf lethal Colavita Kozlowski type ?
What are the signs and symptoms of Short limb dwarf lethal Colavita Kozlowski type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short limb dwarf lethal Colavita Kozlowski 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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - 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 + Short limb dwarf lethal Colavita Kozlowski type
What is (are) X-linked hypophosphatemia ?
X-linked Hypophosphatemia (XLH) is an inherited metabolic disorder characterized by low phosphate levels in the blood that can lead to softening and weakening of bones (rickets) as a result of improper processing of phosphate in the kidneys leading to phosphate wasting. XLH is usually diagnosed in childhood, and clinical features include bone abnormalities such as bowed or bent legs, short stature, bone pain, and spontaneous dental abscesses. The condition is caused by mutations in the PHEX gene on the X chromosome, and is inherited in an X-linked dominant manner. Treatment generally involves phosphate supplementation along with high-dose calcitriol (active Vitamin D) and may also included growth hormones supplementation, corrective surgery, and dental treatment. With consistent treatment, prognosis is typically good, though growth rate may still be low. + GARD + X-linked hypophosphatemia
What are the symptoms of X-linked hypophosphatemia ?
What are the signs and symptoms of X-linked hypophosphatemia? Symptoms of X-linked hypophosphatemia (XLH) usually begin in early childhood, though severity varies case by case. Early signs include skeletal abnormalities such as noticeably bowed or bent legs, short stature, and irregular growth of the skull. Overtime, symptoms may progress to include bone pain, joint pain caused by the calcification of tendons and ligaments, and spontaneous dental abscesses. Some people with XLH may also experience hearing loss, though this is highly variable and appears to be rare. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked hypophosphatemia. 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 dental enamel 90% Abnormality of the metaphyses 90% Bone pain 90% Genu varum 90% Premature loss of teeth 90% Craniofacial hyperostosis 50% Enthesitis 50% Osteoarthritis 50% Short stature 50% Hearing impairment 7.5% Recurrent fractures 7.5% Abnormality of pelvic girdle bone morphology - Arthralgia - Bowing of the legs - Elevated alkaline phosphatase - Elevated circulating parathyroid hormone (PTH) level - Femoral bowing - Fibular bowing - Flattening of the talar dome - Frontal bossing - Hypomineralization of enamel - Hypophosphatemia - Hypophosphatemic rickets - Metaphyseal irregularity - Osteomalacia - Phenotypic variability - Renal phosphate wasting - Renal tubular dysfunction - Shortening of the talar neck - Spinal canal stenosis - Spinal cord compression - Tibial bowing - Trapezoidal distal femoral condyles - 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 + X-linked hypophosphatemia
What causes X-linked hypophosphatemia ?
What causes X-linked hypophosphatemia? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX  gene on the X chromosome. Nearly 300 PHEX mutations have been associated with XLH. Mutations in this gene lead to an increase in the bodily concentration of fibroblast growth factor 23 (FGF23), a growth hormone that regulates phosphate reabsorption in the kidneys. Too much FGF23 causes phosphate wasting in the kidneys that prevents maintenance of proper phosphate levels in the blood and is responsible for the symptoms of XLH. + GARD + X-linked hypophosphatemia
Is X-linked hypophosphatemia inherited ?
How is X-linked hypophosphatemia inherited? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene, and is inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition in both males and females. A female with XLH has a 50% chance of passing along a mutation to each of her children. Since males only have one X-chromosome, a male with XLH will pass along the condition to all of his daughters, but not to his sons. PHEX mutations are inherited through families, but they can also occur spontaneously, explaining why some people with XLH may not have a previous family history. + GARD + X-linked hypophosphatemia