Details of Disease | DrugMAP

General Information of Disease (ID: DIS1NFFP)

Disease Name	Spermatogenic failure 31
Synonyms	spermatogenic failure 31; SPGF31
Disease Hierarchy	DIS3D1AI: Spermatogenic failure DIS1NFFP: Spermatogenic failure 31
Disease Identifiers	MONDO ID MONDO_0020852 UMLS CUI C4748234 OMIM ID 618112 MedGen ID 1648419

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SUN5	OTUVKA6R	moderate	GermlineCausalMutation	[1]
PMFBP1	OTA551F7	Strong	Autosomal recessive	[2]
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References

1	Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.Am J Hum Genet. 2016 Oct 6;99(4):942-949. doi: 10.1016/j.ajhg.2016.08.004. Epub 2016 Sep 15.
2	Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. Am J Hum Genet. 2018 Aug 2;103(2):188-199. doi: 10.1016/j.ajhg.2018.06.010. Epub 2018 Jul 19.