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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hypogonadism (D007006)
..Starting node ..Idiopathic Hypogonadotropic Hypogonadism (C562785)
Child Nodes:
Sister Nodes:
..Alopecia hypogonadism extrapyramidal disorder (C537053)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..Bassoe syndrome (C537661)
..Biemond syndrome type 2 (C535439)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Cantalamessa Baldini Ambrosi syndrome (C537981)
..Cardiomyopathy hypogonadism collagenoma syndrome (C535582)
..Cerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..Cerebellar Ataxia and Hypogonadotropic Hypogonadism (C565870)
..Chang Davidson Carlson syndrome (C538075)
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Chudley-Rozdilsky syndrome (C535458)
..De Sanctis-Cacchione syndrome (C535992)
..Deafness-Hypogonadism Syndrome (C564435)
..Encephalopathy, Spastic Tetraparesis, and Hypogonadism (C565722)
..Eunuchism (D005058) 2
..Gonadal Dysgenesis, Hypergonadotropic, XX Type, Short Stature, and Recurrent Metabolic Acidosis (C565295)
..Hypergonadotropic Hypogonadism And Partial Alopecia (C567109)
..Hypogonadism and Testicular Atrophy (C567108)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies (C564406)
..Ichthyosis and male hypogonadism (C537365)
..Idiopathic Hypogonadotropic Hypogonadism (C562785)
..Johnson neuroectodermal syndrome (C535882)
..Kallmann Syndrome (D017436) 9
..Klinefelter Syndrome (D007713)
..Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..Lubinsky syndrome (C543092)
..Malouf syndrome (C535703)
..Martsolf syndrome (C536028)
..MEHMO syndrome (C537451)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Mineralocorticoid Deficiency, Isolated (C567596)
..Moebius axonal neuropathy hypogonadism (C535806)
..MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Richards-Rundle syndrome (C535674)
..Rud Syndrome (C535878)
..Scholte syndrome (C536638)
..Seemanova Lesny syndrome (C537536)
..Sexual Infantilism (D050035)
..Slti Salem syndrome (C536673)
..Vasquez Hurst Sotos syndrome (C536533)
..Warburg Sjo Fledelius syndrome (C536681)
..Weinstein Kliman Scully syndrome (C536688)
..Woodhouse Sakati syndrome (C536742)
..Young Hughes syndrome (C536715)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5700

Name:

Idiopathic Hypogonadotropic Hypogonadism

Definition:

Alternative IDs:

OMIM:146110

ParentIDs:

MESH:D007006

TreeNumbers:

C19.391.482/C562785

Synonyms:

HH7 |HYPOGONADISM, ISOLATED HYPOGONADOTROPIC |HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA |IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM |IHH

Slim Mappings:

Endocrine system disease

Reference:

MedGen: C562785
MeSH: C562785
OMIM: 146110;

Genes: GNRHR;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0000028	Cryptorchidism
4	HP:0008734	Decreased testicular size
5	HP:0000771	Gynecomastia
6	HP:0000044	Hypogonadotropic hypogonadism
7	HP:0000789	Infertility	HP:0040283
8	HP:0000054	Micropenis
9	HP:0000786	Primary amenorrhea
10	HP:0002215	Sparse axillary hair
11	HP:0002225	Sparse pubic hair

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000406.2(GNRHR):c.959C>T (p.Pro320Leu)	2798	GNRHR	Pathogenic	104893847	RCV000030920;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68606226	68606226	NM_000406.2:c.959C>T	NP_000397.1:p.Pro320Leu	NC_000004.11:g.68606226G>A	OMIM Allelic Variant:138850.0014	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.941T>A (p.Leu314Ter)	2798	GNRHR	Pathogenic	104893841	RCV000030913;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68606244	68606244	NM_000406.2:c.941T>A	NP_000397.1:p.Leu314Ter	NC_000004.11:g.68606244A>T	OMIM Allelic Variant:138850.0007	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.851A>G (p.Tyr284Cys)	2798	GNRHR	Pathogenic	28933074	RCV000030909;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68606334	68606334	NM_000406.2:c.851A>G	NP_000397.1:p.Tyr284Cys	NC_000004.11:g.68606334T>C	OMIM Allelic Variant:138850.0003	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.842C>T (p.Thr281Ile)	2798	GNRHR	Pathogenic	515726220	RCV000114424;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68606343	68606343	NM_000406.2:c.842C>T	NP_000397.1:p.Thr281Ile	4:g.68606343G>A	-	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.806C>T (p.Thr269Met)	2798	GNRHR	Likely pathogenic;Pathogenic	369176613	RCV000128827; RCV000203470;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68606379	68606379	NM_000406.2:c.806C>T	NP_000397.1:p.Thr269Met	NC_000004.11:g.68606379G>A	-	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.806C>T (p.Thr269Met)	2798	GNRHR	Likely pathogenic;Pathogenic	369176613	RCV000128827; RCV000203470;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68606379	68606379	NM_000406.2:c.806C>T	NP_000397.1:p.Thr269Met	NC_000004.11:g.68606379G>A	-	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.785G>A (p.Arg262Gln)	2798	GNRHR	Pathogenic	104893837	RCV000030908;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68606400	68606400	NM_000406.2:c.785G>A	NP_000397.1:p.Arg262Gln	NC_000004.11:g.68606400C>T	OMIM Allelic Variant:138850.0002	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.651C>A (p.Ser217Arg)	2798	GNRHR	Pathogenic	104893839	RCV000030911;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68610377	68610377	NM_000406.2:c.651C>A	NP_000397.1:p.Ser217Arg	NC_000004.11:g.68610377G>T	OMIM Allelic Variant:138850.0005	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.523_742del	2798	GNRHR	Pathogenic	797044452	RCV000030917;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68610506	68610506	NM_000406.2:c.523_742del		NC_000004.11:g.68610506C>T	OMIM Allelic Variant:138850.0011	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.511G>A (p.Ala171Thr)	2798	GNRHR	Pathogenic	74452732	RCV000030918;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619543	68619543	NM_000406.2:c.511G>A	NP_000397.1:p.Ala171Thr	NC_000004.11:g.68619543C>T	OMIM Allelic Variant:138850.0012	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.504T>A (p.Ser168Arg)	2798	GNRHR	Pathogenic	104893840	RCV000030912;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619550	68619550	NM_000406.2:c.504T>A	NP_000397.1:p.Ser168Arg	NC_000004.11:g.68619550A>T	OMIM Allelic Variant:138850.0006	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.416G>A (p.Arg139His)	2798	GNRHR	Likely pathogenic;Pathogenic	104893842	RCV000030914; RCV000203470;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619638	68619638	NM_000406.2:c.416G>A	NP_000397.1:p.Arg139His	NC_000004.11:g.68619638C>T	OMIM Allelic Variant:138850.0008	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.416G>A (p.Arg139His)	2798	GNRHR	Likely pathogenic;Pathogenic	104893842	RCV000030914; RCV000203470;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619638	68619638	NM_000406.2:c.416G>A	NP_000397.1:p.Arg139His	NC_000004.11:g.68619638C>T	OMIM Allelic Variant:138850.0008	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.392T>C (p.Met131Thr)	2798	GNRHR	Pathogenic	606231406	RCV000128826;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619662	68619662	NM_000406.2:c.392T>C	NP_000397.1:p.Met131Thr	NC_000004.11:g.68619662A>G	-	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.392T>C (p.Met131Thr)	2798	GNRHR	Pathogenic	606231406	RCV000128826;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619662	68619662	NM_000406.2:c.392T>C	NP_000397.1:p.Met131Thr	NC_000004.11:g.68619662A>G	-	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.386C>A (p.Ala129Asp)	2798	GNRHR	Pathogenic	104893838	RCV000030910;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619668	68619668	NM_000406.2:c.386C>A	NP_000397.1:p.Ala129Asp	NC_000004.11:g.68619668G>T	OMIM Allelic Variant:138850.0004	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg)	2798	GNRHR	Pathogenic	104893836	RCV000190591;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619737	68619737	NM_000406.2:c.317A>G	NP_000397.1:p.Gln106Arg	NC_000004.11:g.68619737T>C	OMIM Allelic Variant:138850.0001	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.268G>A (p.Glu90Lys)	2798	GNRHR	Pathogenic	104893844	RCV000030916;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619786	68619786	NM_000406.2:c.268G>A	NP_000397.1:p.Glu90Lys	NC_000004.11:g.68619786C>T	OMIM Allelic Variant:138850.0010	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.94A>G (p.Thr32Ala)	2798	GNRHR	Pathogenic	515726219	RCV000114425;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68619960	68619960	NM_000406.2:c.94A>G	NP_000397.1:p.Thr32Ala	NC_000004.11:g.68619960T>C	-	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_001012763.1(GNRHR):c.30_31delTCinsAA (p.Asn10_Gln11delinsLysLys)	2798	GNRHR	Pathogenic	281865427	RCV000030919;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68620023	68620024	NM_001012763.1:c.30_31delTCinsAA	NP_001012781.1:p.Asn10_Gln11delinsLysLys	NC_000004.11:g.68620023_68620024delGAinsTT	OMIM Allelic Variant:138850.0013	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia
NM_000406.2(GNRHR):c.30T>A (p.Asn10Lys)	2798	GNRHR	Pathogenic	104893843	RCV000030915;	N	MedGen:C0271623,OMIM:146110,SNOMED CT:33927004	4	68620024	68620024	NM_000406.2:c.30T>A	NP_000397.1:p.Asn10Lys	NC_000004.11:g.68620024A>T	OMIM Allelic Variant:138850.0009	C0271623 146110 Hypogonadotropic hypogonadism 7 with or without anosmia