Details of Disease | DrugMAP

General Information of Disease (ID: DISP08RC)

Disease Name	Hypogonadotropic hypogonadism 24 without anosmia
Synonyms	isolated follicle stimulating hormone deficiency; isolated follicle-stimulating hormone (FSH) deficiency; follicle-stimulating hormone deficiency, isolated; HH24; isolated follicle-stimulating hormone deficiency; hypogonadotropic hypogonadism 24 without anosmia; hypogonadotropic hypogonadism caused by mutation in FSHB; FSHB hypogonadotropic hypogonadism; isolated FSH deficiency
Definition	Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene.
Disease Hierarchy	DIS8JSKR: Hypogonadotropic hypogonadism DISP08RC: Hypogonadotropic hypogonadism 24 without anosmia
Disease Identifiers	MONDO ID MONDO_0009239 UMLS CUI C5574957 OMIM ID 229070 MedGen ID 1806136 Orphanet ID 52901

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FSHB	TT13GFV	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FSHB	OTGLS283	Strong	Autosomal recessive	[1]
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References

1	FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. J Clin Endocrinol Metab. 2002 Aug;87(8):3702-7. doi: 10.1210/jcem.87.8.8724.