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:
Hypopituitarism (HP:0040075)

Parent Node:
Anterior hypopituitarism (HP:0000830)

..Starting node
..Adrenocorticotropic hormone deficiency (HP:0011748)

Term ID:

11748

Name:

Adrenocorticotropic hormone deficiency

Synonym:

ACTH deficiency; Corticotropin deficiency

Definition:

A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.

Comments:

Reference:

HP:0011748

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal prolactin level (HP:0040086)

Decreased response to growth hormone stimulation test (HP:0000824)

Gonadotropin deficiency (HP:0008213)

Panhypopituitarism (HP:0000871)

Pituitary hypothyroidism (HP:0008245)

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:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040283 - Occasional	51
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.	27
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0011748	HP:0011748	Adrenocorticotropic hormone deficiency	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (13) :AIP CDH23 CDKN2A CTNNB1 GLI3 LHX3 MEN1 POMC PRKAR1A TBX19 TERT TP53 ZNRF3

Diseases (7) :ORPHA:2965 ORPHA:91347 ORPHA:1501 ORPHA:672 ORPHA:231720 OMIM:609734 OMIM:201400

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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