MCID: ISL139
MIFTS: 16

Isolated Congenital Hypogonadotropic Hypogonadism

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Isolated Congenital Hypogonadotropic Hypogonadism

MalaCards integrated aliases for Isolated Congenital Hypogonadotropic Hypogonadism:

Name: Isolated Congenital Hypogonadotropic Hypogonadism 58 29 6
Isolated Gonadotropin-Releasing Hormone Deficiency 58
Isolated Congenital Gonadotropin Deficiency 58
Gonadotropic Deficiency 58

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E23.0
Orphanet 58 ORPHA238666

Summaries for Isolated Congenital Hypogonadotropic Hypogonadism

MalaCards based summary : Isolated Congenital Hypogonadotropic Hypogonadism, also known as isolated gonadotropin-releasing hormone deficiency, is related to isolated gonadotropin-releasing hormone deficiency and hypogonadotropic hypogonadism 7 with or without anosmia. An important gene associated with Isolated Congenital Hypogonadotropic Hypogonadism is GNRHR (Gonadotropin Releasing Hormone Receptor). Affiliated tissues include pituitary.

Related Diseases for Isolated Congenital Hypogonadotropic Hypogonadism

Diseases related to Isolated Congenital Hypogonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 isolated gonadotropin-releasing hormone deficiency 11.5
2 hypogonadotropic hypogonadism 7 with or without anosmia 10.3
3 hypogonadotropic hypogonadism 2 with or without anosmia 10.1
4 kallmann syndrome 10.1
5 normosmic congenital hypogonadotropic hypogonadism 10.1
6 split hand-foot malformation 10.1
7 hypogonadotropic hypogonadism 10.1
8 hypogonadism 10.1
9 congenital hypogonadotropic hypogonadism 10.1
10 anosmia, isolated congenital 9.9
11 impotence 9.9
12 pituitary gland disease 9.9
13 hypopituitarism 9.9
14 hypoglycemia 9.9
15 penis agenesis 9.9

Graphical network of the top 20 diseases related to Isolated Congenital Hypogonadotropic Hypogonadism:



Diseases related to Isolated Congenital Hypogonadotropic Hypogonadism

Symptoms & Phenotypes for Isolated Congenital Hypogonadotropic Hypogonadism

Drugs & Therapeutics for Isolated Congenital Hypogonadotropic Hypogonadism

Search Clinical Trials , NIH Clinical Center for Isolated Congenital Hypogonadotropic Hypogonadism

Genetic Tests for Isolated Congenital Hypogonadotropic Hypogonadism

Genetic tests related to Isolated Congenital Hypogonadotropic Hypogonadism:

# Genetic test Affiliating Genes
1 Isolated Congenital Hypogonadotropic Hypogonadism 29

Anatomical Context for Isolated Congenital Hypogonadotropic Hypogonadism

MalaCards organs/tissues related to Isolated Congenital Hypogonadotropic Hypogonadism:

40
Pituitary

Publications for Isolated Congenital Hypogonadotropic Hypogonadism

Articles related to Isolated Congenital Hypogonadotropic Hypogonadism:

(show all 12)
# Title Authors PMID Year
1
Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency. 61
32485746 2020
2
Split hand/foot malformation: a potential clue to underlying FGFR1 mutation in patients with isolated congenital hypogonadotropic hypogonadism. 61
29146774 2018
3
Conformational Change in the Ligand-Binding Pocket via a KISS1R Mutation (P147L) Leads to Isolated Gonadotropin-Releasing Hormone Deficiency. 61
29264451 2017
4
Clinical Applications of Gonadotropins in the Male. 61
27697201 2016
5
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. 61
26207952 2015
6
A case of hyperpigmentation and acanthosis nigricans by testosterone injections. 61
24505054 2014
7
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. 61
20696889 2010
8
Defective regulation of glycoprotein free alpha-subunit in males with isolated gonadotropin-releasing hormone deficiency--a clinical research center study. 61
8530620 1995
9
Gonadotropin-releasing hormone deficiency in men: diagnosis and treatment with exogenous gonadotropin-releasing hormone. 61
2122732 1990
10
Clinical review 4: Diagnosis and treatment of isolated gonadotropin-releasing hormone deficiency in men. 61
2403572 1990
11
Osteoporosis in men with idiopathic hypogonadotropic hypogonadism. 61
3544993 1987
12
Male transmission of the gene for isolated gonadotropin-releasing hormone deficiency. 61
3917947 1985

Variations for Isolated Congenital Hypogonadotropic Hypogonadism

ClinVar genetic disease variations for Isolated Congenital Hypogonadotropic Hypogonadism:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNRHR NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) SNV Pathogenic 16023 rs104893836 4:68619737-68619737 4:67754019-67754019

Expression for Isolated Congenital Hypogonadotropic Hypogonadism

Search GEO for disease gene expression data for Isolated Congenital Hypogonadotropic Hypogonadism.

Pathways for Isolated Congenital Hypogonadotropic Hypogonadism

GO Terms for Isolated Congenital Hypogonadotropic Hypogonadism

Sources for Isolated Congenital Hypogonadotropic Hypogonadism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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