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 circulating hormone concentration (HP:0003117)

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

..Starting node
..Increased circulating ACTH level (HP:0003154)

Term ID:

3154

Name:

Increased circulating ACTH level

Synonym:

High blood corticotropin levels; Increased circulating ACTH level; Increased plasma ACTH

Definition:

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

Comments:

Reference:

HP:0003154

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating ACTH level (HP:0002920)

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:0003154	HP:0003154	Increased circulating ACTH level	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0003154	HP:0003154	Increased circulating ACTH level	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0003154	HP:0003154	Increased circulating ACTH level	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0003154	HP:0003154	Increased circulating ACTH level	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0003154	HP:0003154	Increased circulating ACTH level	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0003154	HP:0003154	Increased circulating ACTH level	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:0003154	HP:0003154	Increased circulating ACTH level	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:0003154	HP:0003154	Increased circulating ACTH level	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040282 - Frequent	112
HP:0003154	HP:0003154	Increased circulating ACTH level	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0003154	HP:0003154	Increased circulating ACTH level	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.	94
HP:0003154	HP:0003154	Increased circulating ACTH level	0	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2	.	26
HP:0003154	HP:0003154	Increased circulating ACTH level	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0003154	HP:0003154	Increased circulating ACTH level	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent	79
HP:0003154	HP:0003154	Increased circulating ACTH level	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0003154	HP:0003154	Increased circulating ACTH level	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0003154	HP:0003154	Increased circulating ACTH level	0	POR CL E G H	5447	9208	OMIM:613571	Disordered steroidogenesis due to cytochrome P450 oxidoreductase	.	76
HP:0003154	HP:0003154	Increased circulating ACTH level	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0003154	HP:0003154	Increased circulating ACTH level	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0003154	HP:0003154	Increased circulating ACTH level	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0003154	HP:0003154	Increased circulating ACTH level	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7

Genes (14) :AIP ATRX BRAF CDH23 CYP11A1 CYP11B1 DAXX MC2R MRAP NR3C1 POR TP53 USP48 USP8

Diseases (12) :OMIM:219090 ORPHA:96253 ORPHA:100075 ORPHA:168558 ORPHA:289548 ORPHA:90795 OMIM:202200 OMIM:607398 ORPHA:786 OMIM:201750 ORPHA:95699 OMIM:613571

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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