fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Holoprosencephaly, recurrent infections, and monocytosis ?
What are the signs and symptoms of Holoprosencephaly, recurrent infections, and monocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Holoprosencephaly, recurrent infections, and monocytosis. 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 facial shape - Abnormality of the pinna - Agenesis of corpus callosum - Autosomal dominant inheritance - Brachycephaly - Brachydactyly syndrome - Cryptorchidism - Epicanthus - Failure to thrive - Holoprosencephaly - Intellectual disability, progressive - Intellectual disability, severe - Inverted nipples - Microcephaly - Micropenis - Monocytosis - Recurrent infections - Recurrent skin infections - Short finger - Short toe - Sloping forehead - Tapered finger - 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 + Holoprosencephaly, recurrent infections, and monocytosis
What is (are) Inclusion body myopathy 2 ?
Inclusion body myopathy 2, also known as hereditary inclusion body myopathy (HIBM), GNE-related myopathy,  distal myopathy with rimmed vacuoles, and Nonaka myopathy, is an inherited condition that primarily affects the skeletal muscles (the muscles that the body uses to move). This disorder is characterized by muscle weakness that appears in late adolescence or early adulthood and worsens over time. Early symptoms typically develop in the 20s and 30s and may include difficulty running or walking, tripping, weakness in the index finger, and frequent loss of balance. Inclusion body myopathy 2 is caused by mutations in the GNE gene. The condition is inherited in an autosomal recessive manner. Treatment is focused on managing individual symptoms. + GARD + Inclusion body myopathy 2
What are the symptoms of Inclusion body myopathy 2 ?
What are the signs and symptoms of Inclusion body myopathy 2? Inclusion body myopathy 2 causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.The first sign of inclusion body myopathy 2 is often weakness of  the tibialis anterior, a muscle in the lower leg that helps control up-and-down movement of the foot. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 usually does not affect the quadriceps (a group of large muscles at the front of the thigh). This condition also spares muscles of the eye or heart, and does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with inclusion body myopathy 2 require wheelchair assistance within 20 years after signs and symptoms appear. The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myopathy 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) Adult onset - Autosomal recessive inheritance - Deposits immunoreactive to beta-amyloid protein - Distal amyotrophy - Distal muscle weakness - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Gait disturbance - Limb-girdle muscle atrophy - Limb-girdle muscle weakness - Proximal muscle weakness - Rimmed vacuoles - 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 + Inclusion body myopathy 2
What causes Inclusion body myopathy 2 ?
What causes inclusion body myopathy 2? Inclusion body myopathy 2 is caused by mutations in the GNE gene. The GNE gene provides instructions for making an enzyme responsible for making sialic acid, a simple sugar that attaches to the ends of more complex molecules on the surface of cells. People with inclusion body myopathy 2 have lower levels of sialic acid on the surface of certain proteins that are important for muscle function. This shortage of sialic acid leads to the progressive muscle wasting and disability seen in patients with inclusion body myopathy 2. Researchers are currently working towards a better understanding of how this shortage of sialic acid leads to the progressive muscle weakness in people with this condition. + GARD + Inclusion body myopathy 2
Is Inclusion body myopathy 2 inherited ?
How is inclusion body myopathy 2 inherited? Inclusion body myopathy 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GARD + Inclusion body myopathy 2
What are the treatments for Inclusion body myopathy 2 ?
How might inclusion body myopathy 2 be treated? Currently, there is no cure and no way to prevent the progression of a Inclusion body myopathy 2.[5665] Treatment is focused on managing individual symptoms. People with this condition are often evaluated and managed by a multidisciplinary team including neurologists and physiatrists, as well as physical and occupational therapists.[5666] Researchers at Hadassah, USC, UCLA, UCSD, Johns Hopkins University, Canada, NIH, and Japan are contributing towards finding an effective treatment. Information about treatments which are on the horizon are described in a publication from the Advancement of Research for Myopathies which can be accessed by clicking here. + GARD + Inclusion body myopathy 2
What are the symptoms of Convulsions benign familial neonatal dominant form ?
What are the signs and symptoms of Convulsions benign familial neonatal dominant form? The Human Phenotype Ontology provides the following list of signs and symptoms for Convulsions benign familial neonatal dominant form. 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 - Generalized tonic-clonic seizures - Hypertonia - Normal interictal EEG - 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 + Convulsions benign familial neonatal dominant form
What is (are) Konigsmark Knox Hussels syndrome ?
Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. Some affected individuals can develop ophthalmoplegia (paralysis of the muscles that control eye movements), ptosis, ataxia, and non-specific myopathy in middle age. This condition is caused by a particular mutation in the OPA1 gene and is inerited in an autosomal dominant fashion. + GARD + Konigsmark Knox Hussels syndrome
What are the symptoms of Konigsmark Knox Hussels syndrome ?
What are the signs and symptoms of Konigsmark Knox Hussels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Konigsmark Knox Hussels 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) Ataxia 5% Abnormal amplitude of pattern reversal visual evoked potentials - Abnormal auditory evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Horizontal nystagmus - Increased variability in muscle fiber diameter - Myopathy - Ophthalmoplegia - Optic atrophy - Peripheral neuropathy - Phenotypic variability - Progressive sensorineural hearing impairment - Ptosis - Red-green dyschromatopsia - Reduced visual acuity - Strabismus - Tritanomaly - Visual impairment - 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 + Konigsmark Knox Hussels syndrome
What causes Konigsmark Knox Hussels syndrome ?
What causes Konigsmark Knox Hussels syndrome? Konigsmark Knox Hussels syndrome is caused by a particular mutation in the OPA1 gene. In most cases, this condition is caused by a mutation that replaces the amino acid arginine with the amino acid histidine at position 445 in the OPA1 protein. This is written as Arg445His or R445H. It is unclear why the R445H mutation causes both hearing and vision loss in affected individuals. + GARD + Konigsmark Knox Hussels syndrome
How to diagnose Konigsmark Knox Hussels syndrome ?
Is genetic testing available for Konigsmark Knox Hussels syndrome? GeneTests lists the names of laboratories that are performing genetic testing for Konigsmark Knox Hussels syndrome. 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.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you. + GARD + Konigsmark Knox Hussels syndrome
What are the symptoms of Muscular fibrosis multifocal obstructed vessels ?
What are the signs and symptoms of Muscular fibrosis multifocal obstructed vessels? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular fibrosis multifocal obstructed vessels. 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) Arrhythmia 90% Cerebral calcification 90% Decreased antibody level in blood 90% Hepatomegaly 90% Limitation of joint mobility 90% Lipoatrophy 90% Skeletal muscle atrophy 90% Splenomegaly 90% Urticaria 90% 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 + Muscular fibrosis multifocal obstructed vessels
What is (are) Greig cephalopolysyndactyly syndrome ?
Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).The features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. Progression of GCPS is dependent on severity. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern. Treatment is symptomatic. + GARD + Greig cephalopolysyndactyly syndrome
What are the symptoms of Greig cephalopolysyndactyly syndrome ?
What are the signs and symptoms of Greig cephalopolysyndactyly syndrome? The symptoms of Greig cephalopolysyndactyly syndrome (GCPS) are highly variable, ranging from mild to severe. People with this condition typically have limb anomalies, which may include one or more extra fingers or toes (polydactyly), an abnormally wide thumb or big toe (hallux), and the skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, developmental delay, and intellectual disability. The Human Phenotype Ontology provides the following list of signs and symptoms for Greig cephalopolysyndactyly 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) 1-3 toe syndactyly 90% Macrocephaly 90% Postaxial hand polydactyly 90% Preaxial foot polydactyly 90% Broad hallux 89% Wide nasal bridge 79% High forehead 70% Frontal bossing 58% Abnormality of the nose 50% Accelerated skeletal maturation 50% Finger syndactyly 50% Hypertelorism 50% Telecanthus 50% Toe syndactyly 50% 3-4 finger syndactyly 33% Broad hallux phalanx 33% Broad thumb 33% Abnormal heart morphology 7.5% Abnormality of muscle fibers 7.5% Agenesis of corpus callosum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Camptodactyly of toe 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Delayed cranial suture closure 7.5% Hirsutism 7.5% Hydrocephalus 7.5% Hyperglycemia 7.5% Hypospadias 7.5% Inguinal hernia 7.5% Intellectual disability, mild 7.5% Joint contracture of the hand 7.5% Postaxial foot polydactyly 7.5% Preaxial hand polydactyly 7.5% Seizures 7.5% Umbilical hernia 7.5% Metopic synostosis 5% Autosomal dominant inheritance - Dolichocephaly - Trigonocephaly - Variable expressivity - 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 + Greig cephalopolysyndactyly syndrome
What causes Greig cephalopolysyndactyly syndrome ?
What causes Greig cephalopolysyndactyly syndrome? Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome (GCPS). The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving the GLI3 gene can cause GCPS. In some cases, the condition results from a chromosome abnormalitysuch as a large deletion or rearrangement of genetic materialin the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of GCPS. + GARD + Greig cephalopolysyndactyly syndrome
Is Greig cephalopolysyndactyly syndrome inherited ?
How is Greig cephalopolysyndactyly syndrome inherited? Greig cephalopolysyndactyly syndrome (GCPS) is often inherited in an autosomal dominant pattern. This means that to be affected, a person only needs a change (mutation) in one copy of the GLI3 gene in each cell. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition in their family. A person with GCPS syndrome has a 50% chance with each pregnancy of passing the altered gene to his or her child. + GARD + Greig cephalopolysyndactyly syndrome
How to diagnose Greig cephalopolysyndactyly syndrome ?
Is genetic testing available for Greig cephalopolysyndactyly syndrome? Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GCPS. How is Greig cephalopolysyndactyly syndrome diagnosed?  Greig cephalopolysyndactyly syndrome (GCPS) is diagnosed based on clinical findings and family history. Major findings of GCPS include: an abnormally large head size (macrocephaly) greater than the 97th percentile widely spaced eyes (ocular hypertelorism) limb anomalies including extra fingers or toes (polydactyly) fused skin between the fingers and toes (cutaneous syndactyly) A diagnosis is established in a first degree relative of a known affected individual if that person has polydactyly with or without syndactyly or craniofacial features (macrocephaly, widely spaced eyes). A diagnosis is additionally established in a person who has features of GCPS and a mutation in the GLI3 gene. + GARD + Greig cephalopolysyndactyly syndrome
What are the treatments for Greig cephalopolysyndactyly syndrome ?
How might Greig cephalopolysyndactyly syndrome be treated? Treatment for Greig cephalopolysyndactyly syndrome (GCPS) is symptomatic. Treatment might include elective surgical repair of polydactyly. Evaluation and treatment of hydrocephalus might additionally occur if hydrocephalus is present.  Hydrocephalus is a condition characterized by excessive accumulation of fluid in the brain. This fluid is cerebrospinal fluid (CSF) - a clear fluid that surrounds the brain and spinal cord. Excess CSF builds up when it cannot drain from the brain due to a blockage in a passage through which the fluid normally flows. This excess fluid causes an abnormal widening of spaces in the brain called ventricles; this can create harmful pressure on brain tissue. Treatment of hydrocephalus often includes surgical insertion of a shunt system-in which a catheters (tubes) are surgically placed behind both ears. A valve (fluid pump) is placed underneath the skin behind the ear and is connected to both catheters. When extra pressure builds up around the brain, the valve opens, and excess fluid drains through the catheter. This helps lower pressure within the skull (intracranial pressure). + GARD + Greig cephalopolysyndactyly syndrome
What is (are) Kienbock's disease ?
Kienbock's disease is a condition characterized by interruption of blood supply to one of the small bones of the hand near the wrist (the lunate). If blood supply to a bone stops, the bone can die; this is known as osteonecrosis. Affected people may first think they have a sprained wrist and may have experienced trauma to the wrist, which can disrupt the blood flow to the lunate. As the disease progresses, signs and symptoms may include a painful and/or swollen wrist; stiffness; decreased grip strength; tenderness directly over the bone; and pain or difficulty in turning the hand upward. The underlying cause of Kienbock's disease is unknown. Treatment aims to relieve the pressure on the bone and restore blood flow within the bone. Surgery may be recommended. + GARD + Kienbock's disease