fenil210/Med-Lamma huggingface dataset:
What are the symptoms of WT limb blood syndrome ?
What are the signs and symptoms of WT limb blood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WT limb blood 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 metacarpal bones 90% Anemia 90% Aplasia/Hypoplasia of the thumb 90% Abnormality of leukocytes 50% Abnormality of the ulna 50% Camptodactyly of finger 50% Clinodactyly of the 5th finger 50% Elbow dislocation 50% Lymphoma 50% Thrombocytopenia 50% Abnormality of the wrist 7.5% Brachydactyly syndrome 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Single transverse palmar crease 7.5% Absent thumb - Autosomal dominant inheritance - Hypoplastic anemia - Irregular hyperpigmentation - Joint contracture of the 5th finger - Leukemia - Pancytopenia - Radioulnar synostosis - Retrognathia - Sensorineural hearing impairment - Short phalanx of finger - Short thumb - Ulnar deviation of the 3rd finger - Ulnar deviation of thumb - 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 + WT limb blood syndrome
What are the symptoms of Mousa Al din Al Nassar syndrome ?
What are the signs and symptoms of Mousa Al din Al Nassar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mousa Al din Al Nassar 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) Cataract 90% Corneal dystrophy 90% Hypertonia 90% Incoordination 90% Myopia 90% Aplasia/Hypoplasia of the cerebellum 50% Decreased antibody level in blood 50% EMG abnormality 50% Gait disturbance 50% Hemiplegia/hemiparesis 50% Optic atrophy 50% Autosomal recessive inheritance - Congenital cataract - Spastic ataxia - Spinocerebellar tract degeneration - 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 + Mousa Al din Al Nassar syndrome
What is (are) Enthesitis-related juvenile idiopathic arthritis ?
Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy. + GARD + Enthesitis-related juvenile idiopathic arthritis
What are the symptoms of Enthesitis-related juvenile idiopathic arthritis ?
What are the signs and symptoms of Enthesitis-related juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Enthesitis-related juvenile idiopathic arthritis. 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) Arthritis 90% Inflammatory abnormality of the eye 90% Joint swelling 90% Abnormality of the teeth 50% Cartilage destruction 50% Enthesitis 50% Abnormal tendon morphology 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 + Enthesitis-related juvenile idiopathic arthritis
What is (are) Pyruvate kinase deficiency ?
Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). The signs and symptoms of the disease may vary greatly from person to person. However, they usually include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. In some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis). Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion. Treatment remains supportive rather than curative. + GARD + Pyruvate kinase deficiency
What are the symptoms of Pyruvate kinase deficiency ?
What are the signs and symptoms of Pyruvate kinase deficiency? The signs and symptoms of pyruvate kinase deficiency may vary greatly from person to person, but usually include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of the eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor).  In more severe cases, the first signs and symptoms may appear in utero in the form of hydrops fetalis, a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus. Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate kinase 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) Intrauterine growth retardation 5% Nonimmune hydrops fetalis 5% Abnormality of the amniotic fluid - Autosomal recessive inheritance - Cholecystitis - Cholelithiasis - Chronic hemolytic anemia - Increased red cell osmotic fragility - Jaundice - Reticulocytosis - Splenomegaly - Unconjugated hyperbilirubinemia - 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 + Pyruvate kinase deficiency
What causes Pyruvate kinase deficiency ?
What causes pyruvate kinase deficiency? In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from chemotherapy, can cause an acquired pyruvate kinase deficiency. This type is more common and milder than the hereditary type. + GARD + Pyruvate kinase deficiency
Is Pyruvate kinase deficiency inherited ?
How is pyruvate kinase deficiency inherited? Pyruvate kinase deficiency is inherited in an autosomal recessive fashion, which means that a child must inherit a gene with a disease-causing mutation from both parents to develop the disorder. The gene that causes pyruvate kinase deficiency is called the PKLR gene that is located on chromosome 1q21.  Although the inheritance is clinically autosomal recessive, most affected individuals are compound heterozygous for two different mutant alleles. It is estimated that approximatly 1 in 100 people carry one copy of a disease-causing mutation in the PKLR gene.  Carriers of one non-working PKLR gene usually have moderatly reduced levels of pyruvate kinase activity but do not develop clinical symptoms. It is possible that carriers of a mutant pyruvate kinase genemay have a protective advantage against malaria in areas where the disease is endemic. + GARD + Pyruvate kinase deficiency
How to diagnose Pyruvate kinase deficiency ?
Is genetic testing available for pyruvate kinase deficiency? Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose an affected person or other family members and to aid in decisions regarding medical care or reproductive issues. We recommend that you talk to your health care provider or a genetic professional to learn more about your testing options. + GARD + Pyruvate kinase deficiency
What are the treatments for Pyruvate kinase deficiency ?
How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions.  In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. However, this does not help in all cases. With small children, this is delayed as long as possible to allow the immune system to mature. Other treatment is symptomatic and supportive. Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5.  An article from eMedicine Journal provides additional information on treatment for pyruvate kinase deficiency at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/125096-treatment#showall + GARD + Pyruvate kinase deficiency
What are the symptoms of Charcot-Marie-Tooth disease type 1D ?
What are the signs and symptoms of Charcot-Marie-Tooth disease type 1D? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1D. 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 dominant inheritance - Decreased motor nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Foot dorsiflexor weakness - Juvenile onset - Steppage gait - Upper limb muscle weakness - 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 + Charcot-Marie-Tooth disease type 1D
What are the symptoms of Hyperlipoproteinemia type 4 ?
What are the signs and symptoms of Hyperlipoproteinemia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipoproteinemia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal glucose tolerance - Atheroeruptive xanthoma - Autosomal dominant inheritance - Heterogeneous - Hypertriglyceridemia - Increased circulating very-low-density lipoprotein cholesterol - Precocious atherosclerosis - 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 + Hyperlipoproteinemia type 4
What is (are) Localized scleroderma ?
Localized scleroderma is characterized by thickening of the skin from excessive collagen deposits. Collagen is a protein normally present in our skin that provides structural support. However, when too much collagen is made, the skin becomes stiff and hard. Localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected by localized scleroderma, and localized scleroderma can never progress to the systemic form of the disease. Often, localized conditions improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. For some people, localized scleroderma is serious and disabling. There are two generally recognized types of localized scleroderma: morphea and linear. + GARD + Localized scleroderma
What are the symptoms of Localized scleroderma ?
What are the signs and symptoms of Localized scleroderma? Signs and symptoms of morphea, include: Hardening of the skin. Thickening of the skin. Discoloration of the affected skin to look lighter or darker than the surrounding area.  The first signs of the disease are reddish patches of skin that thicken into firm, oval-shaped areas. The center of each patch becomes ivory colored with violet borders. These patches sweat very little and have little hair growth. Patches appear most often on the chest, stomach, and back. Sometimes they appear on the face, arms, and legs. Morphea usually affects only the uppermost layers of your skin, but in some cases may involve fatty or connective tissue below your skin. Morphea can be either localized or generalized. Localized morphea limits itself to one or several patches, ranging in size from a half-inch to 12 inches in diameter. The condition sometimes appears on areas treated by radiation therapy. Some people have both morphea and linear scleroderma (which is characterized by a single line or band of thickened and/or abnormally colored skin). The disease is referred to as generalized morphea when the skin patches become very hard and dark and spread over larger areas of the body. The Human Phenotype Ontology provides the following list of signs and symptoms for Localized scleroderma. 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) Dry skin 90% Hypopigmented skin patches 90% Skeletal muscle atrophy 50% Camptodactyly of toe 7.5% Lower limb asymmetry 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 + Localized scleroderma
What causes Localized scleroderma ?
What causes morphea? The exact cause of morphea is unknown. It is not infectious. It is not hereditary, though, similar problems may present in other family members. It's believed that a reaction of the immune system plays a role in the development of this rare condition. Experts have explored a possible connection between morphea and infection, such as measles or chickenpox, but recent research doesn't support this theory. Other factors that may be associated with the onset of morphea include radiation therapy or repeated trauma to the affected area. + GARD + Localized scleroderma
What are the treatments for Localized scleroderma ?
How might morphea be treated? There is no cure for morphea. Treatment is aimed at controlling the signs and symptoms and slowing the spread of the disease. The precise treatment depends on the extent and severity of the condition. Some people with mild morphea may choose to defer treatment. For people with morphea involving only the skin who want treatment, treatment may involve UVA1 phototherapy (or else broad band UVA, narrow band UVB, or PUVA), tacrolimus ointment, or steroid shots. Other treatment options include high potency steroid creams, vitamin D analog creams, or imiquimod. If a persons morphea is rapidly progressive, severe, or causing significant disability treatment options may include systemic steroids (glucocorticoids) and methotrexate. People with morphea should be monitored for joint changes and referred for physical and occupational therapy as appropriate. + GARD + Localized scleroderma
What is (are) Infantile-onset ascending hereditary spastic paralysis ?
Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern. + GARD + Infantile-onset ascending hereditary spastic paralysis