Details of Disease

General Information of Disease (ID: DISCK87Z)

Disease Name Spermatogenic failure 6
Synonyms
round-headed spermatozoa; globozoospermia; SPGF6; spermatozoa, round-headed; acrosome malformation of spermatozoa; spermatogenic failure type 6; spermatogenic failure 6; SPATA16 azoospermia; azoospermia caused by mutation in SPATA16
Definition Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DIS7EMCO: Male infertility due to globozoospermia
DISCK87Z: Spermatogenic failure 6
Disease Identifiers
MONDO ID
MONDO_0007060
MESH ID
D000072660
UMLS CUI
C0403825
OMIM ID
102530
MedGen ID
96048
HPO ID
HP:0012205
SNOMED CT ID
236818008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NOS3 TTCM4B3 Limited Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPATA16 OT9GJBI3 Limited Autosomal recessive [2]
NECTIN2 OTIE0W6O Strong Biomarker [3]
NECTIN3 OTS8N7MK Strong Biomarker [3]
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References

1 Level of NO/nitrite and 3-nitrotyrosine in seminal plasma of infertile men: Correlation with sperm number, motility and morphology.Chem Biol Interact. 2018 Aug 1;291:264-270. doi: 10.1016/j.cbi.2018.07.002. Epub 2018 Jul 2.
2 Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet. 2007 Oct;81(4):813-20. doi: 10.1086/521314. Epub 2007 Aug 21.
3 Detection of candidate nectin gene mutations in infertile men with severe teratospermia.J Assist Reprod Genet. 2017 Oct;34(10):1295-1302. doi: 10.1007/s10815-017-0985-4. Epub 2017 Jul 8.