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 gonadotropin concentration (HP:0030338)

..Starting node
..Decreased circulating gonadotropin concentration (HP:0030339)

Term ID:

30339

Name:

Decreased circulating gonadotropin concentration

Synonym:

Decreased circulating gonadotropin level

Definition:

A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).

Comments:

Reference:

HP:0030339

Genes and Diseases:

Child Nodes:

........

Decreased circulating follicle stimulating hormone level (HP:0030341)

........

Decreased circulating luteinizing hormone level (HP:0030344)

Sister Nodes:

Abnormal circulating follicle-stimulating hormone concentration (HP:0030346)

Abnormal circulating luteinizing hormone concentration (HP:0030345)

Increased circulating gonadotropin level (HP:0000837)

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:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome		3
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	GNRH1 CL E G H	2796	4419	OMIM:614841	Hypogonadotropic hypogonadism 12 with or without anosmia	.	15
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia		9
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0030339	HP:0030339	Decreased circulating gonadotropin concentration	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia		65
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent	3
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	FSHB CL E G H	2488	3964	OMIM:229070	Hypogonadotropic hypogonadism 24 without anosmia		23
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	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:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	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:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	KISS1 CL E G H	3814	6341	OMIM:614842	Hypogonadotropic hypogonadism 13 with or without anosmia		3
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	LGR4 CL E G H	55366	13299	OMIM:619613	DELAYED PUBERTY, SELF-LIMITED; DPSL		1
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	LHB CL E G H	3972	6584	OMIM:228300	Hypogonadotropic hypogonadism 23 without anosmia	.	9
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	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:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	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:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	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:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	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:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	NHLH2 CL E G H	4808	7818	OMIM:619755	HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	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:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	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:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	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:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	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:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SEMA3A CL E G H	10371	10723	OMIM:614897	Hypogonadotropic hypogonadism 16 with or without anosmia		14
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0030339	HP:0030344	Decreased circulating luteinizing hormone level	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0030339	HP:0030341	Decreased circulating follicle stimulating hormone concentration	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent

Genes (33) :AKT1 ANOS1 BAP1 CPE DMXL2 FSHB GNRH1 HESX1 KISS1 LGR4 LHB LHX3 LHX4 MAGEL2 NDN NF2 NHLH2 OCA2 OTX2 PDGFB PIK3CA PNPLA6 POU1F1 PRDM13 PROP1 SEMA3A SMARCB1 SMARCE1 SMO SNRPN SUFU TERT TRAF7

Diseases (18) :ORPHA:2495 OMIM:308700 OMIM:619326 ORPHA:453533 OMIM:229070 OMIM:614841 ORPHA:226307 OMIM:614842 OMIM:619613 OMIM:228300 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:619755 OMIM:613986 OMIM:215470 OMIM:619761 OMIM:614897

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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