Details of Disease

General Information of Disease (ID: DISJEBH2)

Disease Name Spermatogenic failure 9
Synonyms SPGF9; globozoospermia, complete; globozoospermia, total; DPY19L2 azoospermia; spermatogenic failure type 9; spermatogenic failure 9; azoospermia caused by mutation in DPY19L2
Definition Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DIS7EMCO: Male infertility due to globozoospermia
DISJEBH2: Spermatogenic failure 9
Disease Identifiers
MONDO ID
MONDO_0013505
UMLS CUI
C3151407
OMIM ID
613958
MedGen ID
462757

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
DPY19L2 OTXG3OGK Strong Autosomal recessive [1]
SPATA16 OT9GJBI3 Strong Genetic Variation [2]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients.Andrologia. 2019 Jul;51(6):e13277. doi: 10.1111/and.13277. Epub 2019 Mar 26.