Details of Disease

General Information of Disease (ID: DISRB12X)

Disease Name Hypogonadotropic hypogonadism 5 with or without anosmia
Synonyms HH5; Kallmann syndrome 5; KAL5; hypogonadotropic hypogonadism caused by mutation in CHD7; CHD7 hypogonadotropic hypogonadism; hypogonadotropic hypogonadism 5 with or without anosmia
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISRB12X: Hypogonadotropic hypogonadism 5 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0012880
UMLS CUI
C3552553
OMIM ID
612370
MedGen ID
765467

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
CHD7 OTHNIZWZ Strong Autosomal dominant [1]
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References

1 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet. 2008 Oct;83(4):511-9. doi: 10.1016/j.ajhg.2008.09.005. Epub 2008 Oct 2.