{"Name":"Familial hyperthyroidism due to mutations in TSH receptor","DiseaseID__c":"GARD:0002858","id":2858,"encodedName":"familial-hyperthyroidism-due-to-mutations-in-tsh-receptor","IsDeleted":false,"Disease_Name_Full__c":"Familial hyperthyroidism due to mutations in TSH receptor","Xref_IDs__c":"C1836706; C563786; DOID:0081101; MEDGEN:373154; MONDO:0012203; OMIM:609152; ORPHA:424","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012203","Disease_Description__c":"A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.","GARD_Name__c":"Familial hyperthyroidism due to mutations in TSH receptor","GARD_Synonym__c":"familial non-immune hyperthyroidism; hyperthyroidism, congenital nonautoimmune; hyperthyroidism, nonautoimmune, autosomal dominant; resistance to thyroid stimulating hormone; toxic thyroid hyperplasia, autosomal dominant","Curated_Disease_Description_Source__c":"MONDO:0012203","Curated_Disease_Description__c":"A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:424","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012203","ORPHANET_ID__c":"ORPHA:424","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertiroidismo familiar por mutaciones en el receptor de la tsh","Spanish_Description_Source__c":"ORPHA:424","Spanish_Description__c":"Es una forma de hipertiroidismo poco frecuente caracterizada por formas clínicas que van de leves a graves, presencia de bocio, ausencia de rasgos autoinmunes, recaídas frecuentes durante el tratamiento y antecedentes familiares.","Spanish_Disease_Name__c":"hipertiroidismo familiar por mutaciones en el receptor de la tsh","Spanish_GARD_Synonym__c":"resistencia a la hormona estimulante de tiroides","Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.","Curated_Disease_Description_Source__c":"MONDO:0012203","GARD_Synonym__c":"familial non-immune hyperthyroidism; hyperthyroidism, congenital nonautoimmune; hyperthyroidism, nonautoimmune, autosomal dominant; resistance to thyroid stimulating hormone; toxic thyroid hyperplasia, autosomal dominant","Name":"Familial hyperthyroidism due to mutations in TSH receptor","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:424"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1836706"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002858","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/424","Source__c":"C1836706; MONDO:0012203","Xref__c":"ORPHA:424"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1836706","Source__c":"C1836706","Xref__c":"C1836706"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081101","Source__c":"MONDO:0012203","Xref__c":"DOID:0081101"},{"URL__c":"https://www.omim.org/entry/609152","Source__c":"C1836706; MONDO:0012203; ORPHA:424","Xref__c":"OMIM:609152"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=373154","Source__c":"C1836706","Xref__c":"MEDGEN:373154"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563786","Source__c":"MONDO:0012203","Xref__c":"C563786"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012203","Source__c":"GARD:0002858","Xref__c":"MONDO:0012203"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TSHR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tshr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000713","HPO_Synonym__c":"Psychomotor agitation","HPO_Name__c":"Agitation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the globe of the eye, or bulbus oculi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012372","HPO_Synonym__c":"Abnormal eye structure; Abnormality of the globe; Abnormally shaped eye","HPO_Name__c":"Abnormal eye morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002378","HPO_Synonym__c":"Hand tremor; Tremor of hand; Tremor of hands; tremors in hands","HPO_Name__c":"Hand tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011790","HPO_Synonym__c":"Activating TSHR defect","HPO_Name__c":"Activating thyroid-stimulating hormone receptor defect","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000836","HPO_Synonym__c":"Overactive thyroid","HPO_Name__c":"Hyperthyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008249","HPO_Synonym__c":"Large thyroid","HPO_Name__c":"Thyroid hyperplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An enlargement of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000853","HPO_Synonym__c":"Enlarged thyroid gland in neck; Thyroid goiter","HPO_Name__c":"Goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011784","HPO_Synonym__c":"Thyrotoxicosis with diffuse goiter","HPO_Name__c":"Thyrotoxicosis with diffuse goiter","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005616","HPO_Synonym__c":"Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate","HPO_Name__c":"Accelerated skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:424","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000752","HPO_Synonym__c":"Hyperactive behavior; Hyperkinetic disorder; More active than typical","HPO_Name__c":"Hyperactivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine"],"Specialist":["Genetics","Nephrology","Endocrine","Pediatrics"],"Account":["Nephrology"]},"synonyms":["familial non-immune hyperthyroidism"," hyperthyroidism, congenital nonautoimmune"," hyperthyroidism, nonautoimmune, autosomal dominant"," resistance to thyroid stimulating hormone"," toxic thyroid hyperplasia, autosomal dominant"]}