General Information of Disease (ID: DISHSSMC)

Disease Name Spermatogenic failure 3
Synonyms SPGF3; azoospermia caused by mutation in SLC26A8; spermatogenic failure type 3; spermatogenic failure 3; SLC26A8 azoospermia
Definition Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DISHSSMC: Spermatogenic failure 3
Disease Identifiers
MONDO ID
MONDO_0011720
UMLS CUI
C4721889
OMIM ID
606766
MedGen ID
1648302

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
SLC26A8 OTNCW8RJ Limited Autosomal dominant [1]
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References

1 The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse. Hum Mol Genet. 2007 Aug 1;16(15):1783-93. doi: 10.1093/hmg/ddm117. Epub 2007 May 20.