Human Phenotype Ontology 
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Abnormal growth hormone level (HP:0032367)help
Term ID: 32367
Name: Abnormal growth hormone level
Synonym: Abnormal somatotropin level
Definition: Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.
Comments:
Reference: HP:0032367
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032367HP:0032367Abnormal growth hormone level0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0032367HP:0032367Abnormal growth hormone level0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0032367HP:0032367Abnormal growth hormone level0AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0032367HP:0032367Abnormal growth hormone level0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0032367HP:0032367Abnormal growth hormone level0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0032367HP:0032367Abnormal growth hormone level0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0032367HP:0032367Abnormal growth hormone level0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0032367HP:0032367Abnormal growth hormone level0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0032367HP:0032367Abnormal growth hormone level0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0032367HP:0032367Abnormal growth hormone level0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0032367HP:0032367Abnormal growth hormone level0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0032367HP:0032367Abnormal growth hormone level0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0032367HP:0032367Abnormal growth hormone level0GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA50
HP:0032367HP:0032367Abnormal growth hormone level0GNAS CL E G H27784392ORPHA:562McCune-Albright syndrome101
HP:0032367HP:0032367Abnormal growth hormone level0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic101
HP:0032367HP:0032367Abnormal growth hormone level0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0032367HP:0032367Abnormal growth hormone level0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0032367HP:0032367Abnormal growth hormone level0GPR101 CL E G H8355014963OMIM:300943PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA25
HP:0032367HP:0032367Abnormal growth hormone level0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0032367HP:0032367Abnormal growth hormone level0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0032367HP:0032367Abnormal growth hormone level0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0032367HP:0032367Abnormal growth hormone level0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0032367HP:0032367Abnormal growth hormone level0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0032367HP:0032367Abnormal growth hormone level0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0032367HP:0032367Abnormal growth hormone level0MEN1 CL E G H42217010ORPHA:2965Prolactinoma462
HP:0032367HP:0032367Abnormal growth hormone level0OTX2 CL E G H50158522OMIM:613986Pituitary hormone deficiency, combined, 641
HP:0032367HP:0032367Abnormal growth hormone level0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0032367HP:0032367Abnormal growth hormone level0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0032367HP:0032367Abnormal growth hormone level0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0032367HP:0032367Abnormal growth hormone level0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0032367HP:0032367Abnormal growth hormone level0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0032367HP:0032367Abnormal growth hormone level0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0032367HP:0000845Elevated circulating growth hormone concentration1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0032367HP:0000845Elevated circulating growth hormone concentration1AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0032367HP:0000845Elevated circulating growth hormone concentration1AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0032367HP:0000845Elevated circulating growth hormone concentration1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040283 - Occasional95
HP:0032367HP:0000845Elevated circulating growth hormone concentration1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040283 - Occasional636
HP:0032367HP:0000845Elevated circulating growth hormone concentration1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0032367HP:0000845Elevated circulating growth hormone concentration1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0032367HP:0000845Elevated circulating growth hormone concentration1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0032367HP:0000845Elevated circulating growth hormone concentration1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0032367HP:0000845Elevated circulating growth hormone concentration1CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV.102
HP:0032367HP:0000845Elevated circulating growth hormone concentration1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0032367HP:0000845Elevated circulating growth hormone concentration1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0032367HP:0034323Reduced circulating growth hormone concentration1GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA50
HP:0032367HP:0000845Elevated circulating growth hormone concentration1GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040283 - Occasional101
HP:0032367HP:0000845Elevated circulating growth hormone concentration1GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic.101
HP:0032367HP:0000845Elevated circulating growth hormone concentration1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0032367HP:0000845Elevated circulating growth hormone concentration1GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0032367HP:0000845Elevated circulating growth hormone concentration1GPR101 CL E G H8355014963OMIM:300943PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA25
HP:0032367HP:0000845Elevated circulating growth hormone concentration1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0032367HP:0000845Elevated circulating growth hormone concentration1IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0032367HP:0000845Elevated circulating growth hormone concentration1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0032367HP:0000845Elevated circulating growth hormone concentration1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0032367HP:0000845Elevated circulating growth hormone concentration1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0032367HP:0000845Elevated circulating growth hormone concentration1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0032367HP:0000845Elevated circulating growth hormone concentration1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040283 - Occasional462
HP:0032367HP:0034323Reduced circulating growth hormone concentration1OTX2 CL E G H50158522OMIM:613986Pituitary hormone deficiency, combined, 641
HP:0032367HP:0000845Elevated circulating growth hormone concentration1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0032367HP:0000845Elevated circulating growth hormone concentration1PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0032367HP:0034323Reduced circulating growth hormone concentration1POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0032367HP:0000845Elevated circulating growth hormone concentration1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0032367HP:0000845Elevated circulating growth hormone concentration1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0032367HP:0000845Elevated circulating growth hormone concentration1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13


Genes (19) :AIP CDH23 CDKN1A CDKN1B CDKN2B CDKN2C GH1 GNAS GPR101 HPGD IGF1 KCNJ11 MEN1 OTX2 PDE11A PMM2 POU1F1 PRKAR1A SLCO2A1

Diseases (22) :ORPHA:963 OMIM:102200 ORPHA:99725 ORPHA:2965 ORPHA:91347 ORPHA:652 ORPHA:276152 OMIM:610755 OMIM:262400 ORPHA:562 OMIM:174800 OMIM:300942 OMIM:300943 ORPHA:2796 OMIM:608747 ORPHA:79644 OMIM:131100 OMIM:613986 ORPHA:1359 ORPHA:79318 OMIM:613038 OMIM:160980
 

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