Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 circulating hormone concentration (HP:0003117)

Parent Node:
Abnormal circulating adrenocorticotropin concentration (HP:0011043)

..Starting node
..Decreased circulating ACTH level (HP:0002920)

Term ID:

2920

Name:

Decreased circulating ACTH level

Synonym:

Definition:

An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.

Comments:

Reference:

HP:0002920

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating ACTH level (HP:0003154)

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:0002920	HP:0002920	Decreased circulating ACTH level	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0002920	HP:0002920	Decreased circulating ACTH level	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent

Genes (30) :AIP AKT1 ARMC5 BAP1 CDH23 FOXA2 GLI2 GNAS HESX1 LHX3 LHX4 MEN1 NF2 NFKB2 OTX2 PDE11A PDE8B PDGFB PIK3CA POU1F1 PRKACA PRKAR1A PROP1 SMARCB1 SMARCE1 SMO SOX3 SUFU TERT TRAF7

Diseases (14) :ORPHA:2965 ORPHA:2495 OMIM:615954 ORPHA:189427 ORPHA:91347 ORPHA:95494 OMIM:219080 ORPHA:226307 ORPHA:293978 OMIM:613986 OMIM:610475 ORPHA:189439 OMIM:610489 ORPHA:90695

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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