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:
Abnormality of the anterior pituitary (HP:0011747)

Parent Node:
Hyperpituitarism (HP:0010514)

..Starting node
..Adrenocorticotropic hormone excess (HP:0011749)

Term ID:

11749

Name:

Adrenocorticotropic hormone excess

Synonym:

ACTH excess

Definition:

Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.

Comments:

Reference:

HP:0011749

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated circulating growth hormone concentration (HP:0000845)

Increased circulating gonadotropin level (HP:0000837)

Increased circulating prolactin concentration (HP:0000870)

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:0011749	HP:0011749	Adrenocorticotropic hormone excess	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0011749	HP:0011749	Adrenocorticotropic hormone excess	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0011749	HP:0011749	Adrenocorticotropic hormone excess	0	CYP11A1 CL E G H	1583	2590	OMIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	.	31
HP:0011749	HP:0011749	Adrenocorticotropic hormone excess	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0011749	HP:0011749	Adrenocorticotropic hormone excess	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0011749	HP:0011749	Adrenocorticotropic hormone excess	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0011749	HP:0011749	Adrenocorticotropic hormone excess	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54		69

Genes (5) :ABCD1 CYP11A1 CYP17A1 HSD3B2 MCM4

Diseases (7) :ORPHA:139399 ORPHA:168558 OMIM:613743 ORPHA:289548 ORPHA:90793 ORPHA:90791 OMIM:609981

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