Details of Disease

General Information of Disease (ID: DISKGPQL)

Disease Name Spermatogenic failure 10
Synonyms spermatogenic failure with defective sperm annulus; SPGF10; SEPT12 azoospermia; azoospermia caused by mutation in SEPT12; spermatogenic failure type 10; spermatogenic failure 10
Definition Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DISKGPQL: Spermatogenic failure 10
Disease Identifiers
MONDO ID
MONDO_0013901
UMLS CUI
C3553793
OMIM ID
614822
MedGen ID
766707

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
SEPTIN12 OTFUKRXA Limited Autosomal dominant [1]
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References

1 SEPT12 deficiency causes sperm nucleus damage and developmental arrest of preimplantation embryos. Fertil Steril. 2011 Jan;95(1):363-5. doi: 10.1016/j.fertnstert.2010.07.1064.