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 androgen level (HP:0030347)

..Starting node
..Increased circulating androgen concentration (HP:0030348)

Term ID:

30348

Name:

Increased circulating androgen concentration

Synonym:

Hyperandrogenemia; Increased circulating androgen level

Definition:

An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.

Comments:

Reference:

HP:0030348

Genes and Diseases:

Child Nodes:

........

Increased serum androstenedione (HP:0025380)

........

Increased serum testosterone level (HP:0030088)

Sister Nodes:

Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)

Abnormal circulating testosterone concentration (HP:0030087)

Decreased circulating androgen concentration (HP:0030349)

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:0030348	HP:0030348	Increased circulating androgen concentration	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome		125
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome		125
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease		216
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent	112
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome		50
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0030348	HP:0030348	Increased circulating androgen concentration	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0030348	HP:0030088	Increased serum testosterone level	1	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0030348	HP:0030088	Increased serum testosterone level	1	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0030348	HP:0025380	Increased circulating androstenedione concentration	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0030348	HP:0025380	Increased circulating androstenedione concentration	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0030348	HP:0025380	Increased circulating androstenedione concentration	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0030348	HP:0030088	Increased serum testosterone level	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0030348	HP:0030088	Increased serum testosterone level	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040283 - Occasional	112
HP:0030348	HP:0025380	Increased circulating androstenedione concentration	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent	112
HP:0030348	HP:0030088	Increased serum testosterone level	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0030348	HP:0030088	Increased serum testosterone level	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent	101
HP:0030348	HP:0030088	Increased serum testosterone level	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0030348	HP:0025380	Increased circulating androstenedione concentration	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0030348	HP:0030088	Increased serum testosterone level	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0030348	HP:0030088	Increased serum testosterone level	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5		13
HP:0030348	HP:0030088	Increased serum testosterone level	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0030348	HP:0030088	Increased serum testosterone level	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare	138
HP:0030348	HP:0025380	Increased circulating androstenedione concentration	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0030348	HP:0030088	Increased serum testosterone level	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0030348	HP:0025380	Increased circulating androstenedione concentration	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0030348	HP:0025380	Increased circulating androstenedione concentration	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0030348	HP:0030088	Increased serum testosterone level	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0030348	HP:0025380	Increased circulating androstenedione concentration	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (18) :ALG6 ALMS1 AR CDKN2A CLN3 CTNNB1 CYP11B1 FSHR GNAS HSD3B2 INSR NR2F2 POLR3A PRKAR1A TERT TP53 WNT4 ZNRF3

Diseases (17) :ORPHA:79320 ORPHA:64 ORPHA:99429 ORPHA:90797 ORPHA:1501 ORPHA:228346 OMIM:202010 ORPHA:90795 ORPHA:64739 ORPHA:562 ORPHA:90791 ORPHA:769 OMIM:618901 ORPHA:3455 OMIM:264090 OMIM:610489 ORPHA:247768

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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