Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal endocrine physiology (HP:0031072)

Parent Node:
Abnormal response to endocrine stimulation test (HP:0031073)

..Starting node
..Abnormal response to ACTH stimulation test (HP:0031074)

Term ID:

31074

Name:

Abnormal response to ACTH stimulation test

Synonym:

Abnormal response to adrenocorticotropic-hormone stimulation test; Abnormal response to corticotropin stimulation test

Definition:

An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.

Comments:

Reference:

HP:0031074

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal response to corticotropin releasing hormone stimulation test (HP:0031077)

Abnormal response to gonadotropin-releasing hormone stimulation test (HP:0031279)

Abnormal response to insulin tolerance test (HP:0031075)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031074	HP:0031074	Abnormal response to ACTH stimulation test	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040281 - Very frequent	53
HP:0031074	HP:0031074	Abnormal response to ACTH stimulation test	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1		94
HP:0031074	HP:0031074	Abnormal response to ACTH stimulation test	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0031074	HP:0031074	Abnormal response to ACTH stimulation test	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040281 - Very frequent	76
HP:0031074	HP:0031074	Abnormal response to ACTH stimulation test	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0031074	HP:0031074	Abnormal response to ACTH stimulation test	0	TXNRD2 CL E G H	10587	18155	OMIM:617825	GLUCOCORTICOID DEFICIENCY 5; GCCD5		85

Genes (6) :CYP17A1 MC2R NFKB2 POR RBM28 TXNRD2

Diseases (6) :ORPHA:90793 OMIM:202200 OMIM:615577 ORPHA:95699 ORPHA:157954 OMIM:617825

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

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