fenil210/Med-Lamma huggingface dataset:
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ?
What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type C. 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 foot - Autosomal dominant inheritance - Axonal regeneration - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Upper limb muscle weakness - 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 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
What is (are) Achondrogenesis ?
Achondrogenesis is a group of severe disorders that are present from birth and affect the development of cartilage and bone. Infants with achondrogenesis usually have a small body, short arms and legs, and other skeletal abnormalities that cause life-threatening complications.  There are at least three forms of achondrogenesis, type 1A, type 1B and type 2, which are distinguished by signs and symptoms, pattern of inheritance, and the results of imaging studies such as x-rays (radiology), tissue analysis (histology), and genetic testing.  Type 1A and 1B achondrogenesis are both inherited in an autosomal recessive pattern.  Type 1B may be caused by mutations in the SLC26A2 gene.  Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene. + GARD + Achondrogenesis
What are the symptoms of Achondrogenesis ?
What are the signs and symptoms of Achondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis. 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 bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Brachydactyly syndrome 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Short toe 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Abnormality of the ribs 50% Polyhydramnios 50% Recurrent fractures 50% Talipes 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Abnormality of the foot - Absent or minimally ossified vertebral bodies - Absent vertebral body mineralization - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Breech presentation - Broad clavicles - Broad long bones - Cleft palate - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Flat face - Horizontal ribs - Hypoplasia of the radius - Hypoplastic ilia - Hypoplastic iliac wing - Hypoplastic ischia - Hypoplastic scapulae - Inguinal hernia - Neonatal short-limb short stature - Protuberant abdomen - Respiratory insufficiency - Short clavicles - Short long bone - Short ribs - Short tubular bones (hand) - Stillbirth - Unossified vertebral bodies - 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 + Achondrogenesis
What causes Achondrogenesis ?
What causes achondrogenesis? Research has shown that changes (mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown.  The SLC26A2 gene provides instructions for making a protein that is important for the normal development of cartilage and for the conversion of cartilage to bone. The COL2A1 gene provides instructions for making a protein that forms a type of collagen found mostly in cartilage and in the clear gel that fills the eyeball (vitreous).  Mutations in these genes result in the production of proteins that are unable to properly perform their jobs within the body. + GARD + Achondrogenesis
Is Achondrogenesis inherited ?
How is achondrogenesis inherited? Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern.  Autosomal recessive inheritance means both copies of the gene in each cell have mutations.  Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Achondrogenesis type 2 is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. It is almost always caused by new (de novo) mutations and typically occurs in people with no history of the disorder in their family. + GARD + Achondrogenesis
How to diagnose Achondrogenesis ?
Is genetic testing is available for achondrogenesis? Genetic testing can help distinguish between the different types of achondrogenesis. GeneTests lists the names of laboratories that are performing genetic testing for achondrogenesis type 1B and type 2. 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 Services tab, we provide a list of online resources that can assist you in locating a genetics professional near you. + GARD + Achondrogenesis
What are the symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus ?
What are the signs and symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia multiple with early-onset diabetes mellitus. 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 metaphyses 90% Short stature 90% Type II diabetes mellitus 90% Abnormality of immune system physiology 50% Abnormality of neutrophils 50% Acute hepatic failure 50% Brachydactyly syndrome 50% Chronic hepatic failure 50% Cognitive impairment 50% Delayed skeletal maturation 50% Elevated hepatic transaminases 50% Gait disturbance 50% Genu valgum 50% Hepatomegaly 50% Platyspondyly 50% Short thorax 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Exocrine pancreatic insufficiency 7.5% Hyperlordosis 7.5% Hypoglycemia 7.5% Hypothyroidism 7.5% Intrauterine growth retardation 7.5% Kyphosis 7.5% Microcephaly 7.5% Nephropathy 7.5% Recurrent fractures 7.5% Renal insufficiency 7.5% Seizures 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Carpal bone hypoplasia - Cone-shaped epiphyses of the phalanges of the hand - Coxa valga - Depressed nasal bridge - Epiphyseal dysplasia - Flattened epiphysis - High palate - Hip dislocation - Hip Subluxation - Hypertelorism - Hypertonia - Hypoplasia of the odontoid process - Infantile onset - Insulin-resistant diabetes mellitus - Irregular carpal bones - Irregular tarsal ossification - Irregular vertebral endplates - Ivory epiphyses of the phalanges of the hand - Ivory epiphyses of the toes - Multiple epiphyseal dysplasia - Narrow iliac wings - Osteoporosis - Preauricular pit - Reduced pancreatic beta cells - Shortening of all middle phalanges of the fingers - Small epiphyses - Upslanted palpebral fissure - 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 + Epiphyseal dysplasia multiple with early-onset diabetes mellitus
What is (are) Inclusion body myositis ?
Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. This condition affects both the proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. There is currently no effective treatment for IBM. The cause is unclear in most cases, but it can sometimes be inherited. + GARD + Inclusion body myositis
What are the symptoms of Inclusion body myositis ?
What are the signs and symptoms of Inclusion body myositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myositis. 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) Autoimmunity 90% EMG abnormality 90% Skeletal muscle atrophy 90% Feeding difficulties in infancy 50% Myalgia 7.5% Autosomal dominant inheritance - Dysphagia - Hyporeflexia - Inflammatory myopathy - Phenotypic variability - Proximal muscle weakness - Rimmed vacuoles - Slow progression - Sporadic - 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 myositis
What is (are) Renal nutcracker syndrome ?
Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome. + GARD + Renal nutcracker syndrome
What are the symptoms of Renal nutcracker syndrome ?
What are the signs and symptoms of renal nutcracker syndrome? The signs and symptoms of renal nutcracker syndrome and the disease severity can vary from person to person. Some affected people may be asymptomatic while others have severe and persistent symptoms. Symptoms are often aggravated by physical activity. When present, symptoms of the condition may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some people may also experience orthostatic intolerance, which is characterized by symptoms such as light-headedness, palpitations, poor concentration, fatigue, nausea, dizziness, headache, sweating, weakness and occasionally fainting when upright standing. Men who are affected by renal nutcracker syndrome may develop a varicocele. Affected women may have gynecological symptoms such as dyspareunia and dysmenorrhea (painful periods). + GARD + Renal nutcracker syndrome
Is Renal nutcracker syndrome inherited ?
Is renal nutcracker syndrome inherited? Renal nutcracker syndrome is not inherited. Most cases occur sporadically in people with no family history of the condition. Although more than one family member may rarely be affected, this is thought to be a coincidence and not the result of a genetic predisposition. + GARD + Renal nutcracker syndrome
How to diagnose Renal nutcracker syndrome ?
How is Renal nutcracker syndrome diagnosed? A diagnosis of renal nutcracker syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to support the diagnosis. This may include urine tests, imaging studies of the kidneys (i.e. doppler ultrasonography, computed tomography angiography, magnetic resonance angiography, retrograde venography), and/or cystoscopy. + GARD + Renal nutcracker syndrome
What are the treatments for Renal nutcracker syndrome ?
How might renal nutcracker syndrome be treated? Treatment of renal nutcracker syndrome is based on severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome. Adults with mild cases and affected children may be treated conservatively with regular surveillance. People younger than 18 years, specifically, are often observed for at least 2 years because as many as 75% will have complete resolution of symptoms without any significant intervention. ACE inhibitors may be effective in treating orthostatic proteinuria. In those with severe symptoms who do not respond to more conservative treatments, surgery is often recommended. + GARD + Renal nutcracker syndrome
What are the symptoms of Charcot-Marie-Tooth disease type 4B2 ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 4B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. 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 - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Glaucoma - Hammertoe - Hyporeflexia - Juvenile onset - Kyphoscoliosis - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - Steppage gait - Talipes equinovarus - Ulnar claw - 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 + Charcot-Marie-Tooth disease type 4B2
What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B ?
What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type B. 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) Segmental peripheral demyelination 5% Areflexia - Autosomal dominant inheritance - Axonal degeneration - Decreased number of peripheral myelinated nerve fibers - Distal sensory impairment - Hyporeflexia - Juvenile onset - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - 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 + Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
What is (are) Wyburn Mason's syndrome ?
Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain.  These malformed blood vessels are called arteriovenous malformations (AVM).  Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown.  Individuals with this condition may have additional AVMs in other parts of the body, particularly the face.  The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs.  Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis).  Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time. + GARD + Wyburn Mason's syndrome
What are the symptoms of Wyburn Mason's syndrome ?
What are the signs and symptoms of Wyburn Mason's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wyburn Mason's 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) Abnormality of the retinal vasculature 90% Abnormality of the skin 90% Aneurysm 90% Peripheral arteriovenous fistula 90% Cerebral palsy 50% Cognitive impairment 50% Hemiplegia/hemiparesis 50% Migraine 50% Seizures 50% Visual impairment 50% Abnormality of eye movement 7.5% Abnormality of retinal pigmentation 7.5% Behavioral abnormality 7.5% Hearing impairment 7.5% Intracranial hemorrhage 7.5% Meningitis 7.5% Nausea and vomiting 7.5% Neurological speech impairment 7.5% Proptosis 7.5% Reduced consciousness/confusion 7.5% Tinnitus 7.5% 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 + Wyburn Mason's syndrome