Details of Disease

General Information of Disease (ID: DISL8JC1)

Disease Name Hypogonadotropic hypogonadism 22 with or without anosmia
Synonyms
HH22; hypogonadotropic hypogonadism caused by mutation in FEZF1; hypogonadotropic hypogonadism 22, with or without anosmia; FEZF1 hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 22 with or without anosmia
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISL8JC1: Hypogonadotropic hypogonadism 22 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0014461
UMLS CUI
C4014988
OMIM ID
616030
MedGen ID
863425

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FEZF1 OTRX4NOT Strong Autosomal recessive [1]
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References

1 Mutations in FEZF1 cause Kallmann syndrome. Am J Hum Genet. 2014 Sep 4;95(3):326-31. doi: 10.1016/j.ajhg.2014.08.006.