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 59 6

Classifications:



External Ids:

ICD10 via Orphanet 34 E23.0
Orphanet 59 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 hypogonadotropism 10.1
5 congenital hypogonadotropic hypogonadism 10.1

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

Anatomical Context for Isolated Congenital Hypogonadotropic Hypogonadism

MalaCards organs/tissues related to Isolated Congenital Hypogonadotropic Hypogonadism:

41
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. 38
29146774 2018
2
Clinical Applications of Gonadotropins in the Male. 38
27697201 2016

Variations for Isolated Congenital Hypogonadotropic Hypogonadism

ClinVar genetic disease variations for Isolated Congenital Hypogonadotropic Hypogonadism:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNRHR NM_000406.2(GNRHR): c.317A> G (p.Gln106Arg) single nucleotide variant Pathogenic/Likely pathogenic 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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