General Information of Disease (ID: DIS6VKD0)

Disease Name Spermatogenic failure 17
Synonyms
Male infertility due to oocyte Activation failure; spermatogenic failure 17; SPGF17; SPGF17; spermatogenic failure type 17; PLCZ1 azoospermia; spermatogenic failure 17; azoospermia caused by mutation in PLCZ1
Definition Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene.
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DIS6VKD0: Spermatogenic failure 17
Disease Identifiers
MONDO ID
MONDO_0014970
UMLS CUI
C4310666
OMIM ID
617214
MedGen ID
934633

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
PLCZ1 OTJ2MEFA Strong Autosomal recessive [1]
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References

1 Reduced amounts and abnormal forms of phospholipase C zeta (PLCzeta) in spermatozoa from infertile men. Hum Reprod. 2009 Oct;24(10):2417-28. doi: 10.1093/humrep/dep207. Epub 2009 Jul 7.