MCID: ISL139
MIFTS: 10

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 6

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 is related to split hand-foot malformation and hypogonadotropic hypogonadism. 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:

# Related Disease Score Top Affiliating Genes
1 split hand-foot malformation 10.1
2 hypogonadotropic hypogonadism 10.1
3 hypogonadism 10.1
4 congenital hypogonadotropic hypogonadism 10.1

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

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:

# Title Authors PMID Year
1
Split hand/foot malformation: a potential clue to underlying FGFR1 mutation in patients with isolated congenital hypogonadotropic hypogonadism. 61
29146774 2018
2
Clinical Applications of Gonadotropins in the Male. 61
27697201 2016

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/Likely 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....