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:
Abnormality of adrenal physiology (HP:0011733)

Parent Node:
Abnormality of circulating cortisol level (HP:0011731)

Parent Node:
Adrenal overactivity (HP:0002717)

..Starting node
..Increased circulating cortisol level (HP:0003118)

Term ID:

3118

Name:

Increased circulating cortisol level

Synonym:

Cushing syndrome; Hypercortisolism; Increased circulating cortisol level; Increased cortisol production

Definition:

Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.

Comments:

Reference:

HP:0003118

Genes and Diseases:

Child Nodes:

........

Primary hypercorticolism (HP:0001579)

........

Secondary hypercorticolism (HP:0011744)

........

Elevated serum 11-deoxycortisol (HP:0025436)

Sister Nodes:

Hyperaldosteronism (HP:0000859)

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:0003118	HP:0003118	Increased circulating cortisol level	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0003118	HP:0003118	Increased circulating cortisol level	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0003118	HP:0003118	Increased circulating cortisol level	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0003118	HP:0003118	Increased circulating cortisol level	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0003118	HP:0003118	Increased circulating cortisol level	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0003118	HP:0003118	Increased circulating cortisol level	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0003118	HP:0003118	Increased circulating cortisol level	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0003118	HP:0003118	Increased circulating cortisol level	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0003118	HP:0003118	Increased circulating cortisol level	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0003118	HP:0003118	Increased circulating cortisol level	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0003118	HP:0003118	Increased circulating cortisol level	0	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent	HP:0040283 - Occasional	2
HP:0003118	HP:0003118	Increased circulating cortisol level	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0003118	HP:0003118	Increased circulating cortisol level	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0003118	HP:0003118	Increased circulating cortisol level	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0003118	HP:0003118	Increased circulating cortisol level	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0003118	HP:0003118	Increased circulating cortisol level	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent	79
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PDE8B CL E G H	8622	8794	OMIM:614190	Pigmented nodular adrenocortical disease, primary, 3	.	75
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0003118	HP:0003118	Increased circulating cortisol level	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0003118	HP:0003118	Increased circulating cortisol level	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572
HP:0003118	HP:0003118	Increased circulating cortisol level	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0003118	HP:0003118	Increased circulating cortisol level	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0003118	HP:0003118	Increased circulating cortisol level	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0003118	HP:0003118	Increased circulating cortisol level	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0003118	HP:0003118	Increased circulating cortisol level	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0003118	HP:0003118	Increased circulating cortisol level	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0003118	HP:0011744	Secondary hypercortisolism	1	CL E G H
HP:0003118	HP:0001579	Primary hypercortisolism	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0003118	HP:0001579	Primary hypercortisolism	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0003118	HP:0025436	Elevated serum 11-deoxycortisol	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0003118	HP:0001579	Primary hypercortisolism	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0003118	HP:0001579	Primary hypercortisolism	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0003118	HP:0025436	Elevated serum 11-deoxycortisol	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0003118	HP:0025436	Elevated serum 11-deoxycortisol	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0003118	HP:0025436	Elevated serum 11-deoxycortisol	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0003118	HP:0001579	Primary hypercortisolism	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0003118	HP:0001579	Primary hypercortisolism	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0003118	HP:0001579	Primary hypercortisolism	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0003118	HP:0001579	Primary hypercortisolism	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0003118	HP:0001579	Primary hypercortisolism	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0003118	HP:0025436	Elevated serum 11-deoxycortisol	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0003118	HP:0001579	Primary hypercortisolism	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0003118	HP:0025436	Elevated serum 11-deoxycortisol	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0003118	HP:0025436	Elevated serum 11-deoxycortisol	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0003118	HP:0025436	Elevated serum 11-deoxycortisol	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (28) :AIRE ARMC5 ATRX BRAF CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CTNNB1 CYP11B1 CYP11B2 GNAS HTR1A KCNJ11 MEN1 NR3C1 PDE11A PDE8B PRKACA PRKAR1A RET TERT TP53 USP48 USP8 ZNRF3

Diseases (23) :ORPHA:3453 OMIM:615954 ORPHA:189427 ORPHA:96253 ORPHA:652 ORPHA:276152 ORPHA:1501 OMIM:202010 ORPHA:556030 OMIM:219080 ORPHA:562 OMIM:174800 OMIM:614674 ORPHA:79644 OMIM:131100 ORPHA:786 ORPHA:1359 OMIM:610475 ORPHA:189439 OMIM:614190 OMIM:615830 OMIM:610489 OMIM:171400

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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