Details of Disease | DrugMAP

General Information of Disease (ID: DISTFDQP)

Disease Name	Spermatogenic failure 8
Synonyms	SPGF8; spermatogenic failure type 8; NR5A1 azoospermia; spermatogenic failure 8; azoospermia caused by mutation in NR5A1
Definition	Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.
Disease Hierarchy	DIS3D1AI: Spermatogenic failure DISTFDQP: Spermatogenic failure 8
Disease Identifiers	MONDO ID MONDO_0013504 UMLS CUI C3151406 OMIM ID 613957 MedGen ID 462756

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
NR5A1	OTOULYR4	Limited	Autosomal dominant	[1]
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References

1	Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009.