{"Name":"Hypothyroidism due to TSH receptor mutations","DiseaseID__c":"GARD:0016793","id":16793,"encodedName":"hypothyroidism-due-to-tsh-receptor-mutations","IsDeleted":false,"Disease_Name_Full__c":"Hypothyroidism due to TSH receptor mutations","Xref_IDs__c":"C3493776; DOID:0070126; MEDGEN:487729; MONDO:0010142; OMIM:275200; ORPHA:90673","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010142","Disease_Description__c":"A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.","GARD_Name__c":"Hypothyroidism due to TSH receptor mutations","GARD_Synonym__c":"chng1; congenital hypothyroidism due to thyroid stimulating hormone receptor mutation; hypothyroidism due to tsh receptor mutation; hypothyroidism due to tshr (thyroid stimulating hormone receptor) mutation; hypothyroidism due to unresponsiveness to thyrotropin; hypothyroidism, congenital, due to tsh resistance; hypothyroidism, congenital, nongoitrous, 1; hypothyroidism, congenital, nongoitrous, type 1; hypothyroidism, nonautoimmune; thyroid-stimulating hormone, resistance to; tsh resistance","Curated_Disease_Description_Source__c":"MONDO:0010142","Curated_Disease_Description__c":"A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:90673","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010142","ORPHANET_ID__c":"ORPHA:90673","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipotiroidismo por mutaciones en el receptor de la tsh","Spanish_Description_Source__c":"ORPHA:90673","Spanish_Description__c":"Es un tipo de hipotiroidismo primario congénito, un déficit permanente de hormonas tiroideas presente desde el nacimiento, debido a una resistencia tiroidea a la TSH.","Spanish_Disease_Name__c":"hipotiroidismo por mutaciones en el receptor de la tsh","Spanish_GARD_Synonym__c":null,"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 type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.","Curated_Disease_Description_Source__c":"MONDO:0010142","GARD_Synonym__c":"chng1; congenital hypothyroidism due to thyroid stimulating hormone receptor mutation; hypothyroidism due to tsh receptor mutation; hypothyroidism due to tshr (thyroid stimulating hormone receptor) mutation; hypothyroidism due to unresponsiveness to thyrotropin; hypothyroidism, congenital, due to tsh resistance; hypothyroidism, congenital, nongoitrous, 1; hypothyroidism, congenital, nongoitrous, type 1; hypothyroidism, nonautoimmune; thyroid-stimulating hormone, resistance to; tsh resistance","Name":"Hypothyroidism due to TSH receptor mutations","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":"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":"Neonatal","Provided_By__c":"ORPHA:90673"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90673"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=487729","Source__c":"C3493776","Xref__c":"MEDGEN:487729"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3493776","Source__c":"C3493776","Xref__c":"C3493776"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070126","Source__c":"MONDO:0010142","Xref__c":"DOID:0070126"},{"URL__c":"https://www.omim.org/entry/275200","Source__c":"C3493776; MONDO:0010142; ORPHA:90673","Xref__c":"OMIM:275200"},{"URL__c":"https://www.orpha.net/en/disease/detail/90673","Source__c":"C3493776; MONDO:0010142; ORPHA:90673","Xref__c":"ORPHA:90673"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010142","Source__c":"GARD:0016793","Xref__c":"MONDO:0010142"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1230272009","Source__c":"C3493776","Xref__c":"1230272009"}],"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 recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008223","HPO_Synonym__c":"Mild hypothyroidism; Subclinical hypothyroidism","HPO_Name__c":"Compensated hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025429","HPO_Name__c":"Abnormal cry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006579","HPO_Synonym__c":"Neonatal jaundice; Prolonged yellowing of skin in newborn","HPO_Name__c":"Prolonged neonatal jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental delay of ossification of the proximal epiphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008828","HPO_Synonym__c":"Delayed ossification of the proximal femoral epiphysis; Delayed ossification proximal femoral epiphyses","HPO_Name__c":"Delayed proximal femoral epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hyperbilirubinemia with neonatal onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003265","HPO_Synonym__c":"High blood bilirubin levels in neonate; Hyperbilirubinemia, neonatal","HPO_Name__c":"Neonatal hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Excluded (0%)","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:90673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031507","HPO_Synonym__c":"Decreased circulating T4 level; Decreased circulating thyroxine level; Reduced T4 plasma level","HPO_Name__c":"Decreased circulating T4 concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced body temperature due to failed thermoregulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002045","HPO_Synonym__c":"Abnormally low body temperature; Hypothermia","HPO_Name__c":"Hypothermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025484","HPO_Synonym__c":"Increased circulating thyroglobulin level","HPO_Name__c":"Increased circulating thyroglobulin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031220","HPO_Name__c":"Increased radioactive iodine uptake","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","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:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005990","HPO_Synonym__c":"Hypoplastic thyroid; Small thyroid gland","HPO_Name__c":"Thyroid hypoplasia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An enlargement of the posterior fontanelle relative to age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004491","HPO_Synonym__c":"Large posterior fontanel","HPO_Name__c":"Large posterior fontanelle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002925","HPO_Synonym__c":"Elevated thyroid stimulating hormone; Elevated thyroid stimulating hormone levels; High TSH; Increased serum thyroid-stimulating hormone; Increased thyroid-stimulating hormone; Increased thyroid-stimulating hormone level; Increased thyrotropin level; Thyroid-stimulating hormone excess; TSH excess","HPO_Name__c":"Elevated circulating thyroid-stimulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hypothyroidism with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000851","HPO_Synonym__c":"Hypothyroidism, congenital; Underactive thyroid gland from birth","HPO_Name__c":"Congenital hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001662","HPO_Synonym__c":"Brachycardia; Slow heartbeats","HPO_Name__c":"Bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031219","HPO_Name__c":"Reduced radioactive iodine uptake","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90673","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011789","HPO_Synonym__c":"Thyroid-stimulating hormone receptor defect; TSHR defect","HPO_Name__c":"Impaired sensitivity to thyroid stimulating hormone","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["chng1"," congenital hypothyroidism due to thyroid stimulating hormone receptor mutation"," hypothyroidism due to tsh receptor mutation"," hypothyroidism due to tshr (thyroid stimulating hormone receptor) mutation"," hypothyroidism due to unresponsiveness to thyrotropin"," hypothyroidism, congenital, due to tsh resistance"," hypothyroidism, congenital, nongoitrous, 1"," hypothyroidism, congenital, nongoitrous, type 1"," hypothyroidism, nonautoimmune"," thyroid-stimulating hormone, resistance to"," tsh resistance"]}