Details of Disease

General Information of Disease (ID: DISG13LO)

Disease Name Hypogonadotropic hypogonadism 9 with or without anosmia
Synonyms HH9; hypogonadotropic hypogonadism 9 with or without anosmia; NSMF hypogonadotropic hypogonadism; hypogonadotropic hypogonadism caused by mutation in NSMF
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DISG13LO: Hypogonadotropic hypogonadism 9 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0013911
UMLS CUI
C3553842
OMIM ID
614838
MedGen ID
766756

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
NSMF OTLTA24A Strong Autosomal dominant [1]
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References

1 Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). J Hum Genet. 2004;49(5):265-8. doi: 10.1007/s10038-004-0137-4.