Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the pituitary gland (HP:0012503)help
Parent Node:
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Abnormal thyroid-stimulating hormone level (HP:0031097)help
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Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)help
Term ID: 2925
Name: Elevated circulating thyroid-stimulating hormone concentration
Synonym: 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
Definition: Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.
Comments:
Reference: HP:0002925
Genes and Diseases:
 
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..expandDecreased thyroid-stimulating hormone level (HP:0031098) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040281 - Very frequent636
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040281 - Very frequent121
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidismHP:0040282 - Frequent121
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040281 - Very frequent11
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040281 - Very frequent130
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0SECISBP2 CL E G H7904830972OMIM:609698Thyroid hormone metabolism, abnormal.3
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040284 - Very rare27
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040281 - Very frequent59
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040281 - Very frequent155
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0THRB CL E G H706811799OMIM:274300Thyroid hormone resistance, generalized, autosomal recessive161
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0THRB CL E G H706811799OMIM:145650Thyroid hormone resistance, selective pituitary.161
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040281 - Very frequent92
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutationsHP:0040281 - Very frequent97
HP:0002925HP:0002925Elevated circulating thyroid-stimulating hormone concentration0TSHR CL E G H725312373OMIM:275200Hypothyroidism, congenital, nongoitrous, 1.97


Genes (21) :ALMS1 CDH23 DCAF17 DUOX2 DUOXA2 IYD NKX2-1 PAX8 PDGFRB PMM2 PRKAR1A PSMB8 SECISBP2 SLC16A2 SLC35A2 SLC5A5 SMARCAL1 TG THRB TPO TSHR

Diseases (21) :ORPHA:64 ORPHA:91347 OMIM:241080 ORPHA:95716 ORPHA:226316 ORPHA:209905 OMIM:610978 OMIM:218700 OMIM:601812 ORPHA:79318 OMIM:101800 OMIM:256040 ORPHA:171706 OMIM:609698 OMIM:300523 ORPHA:356961 OMIM:242900 OMIM:274300 OMIM:145650 ORPHA:90673 OMIM:275200
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.