Details of Disease

General Information of Disease (ID: DISJT1VL)

Disease Name Spermatogenic failure 16
Synonyms acephalic spermatozoa syndrome; SUN5 azoospermia; azoospermia caused by mutation in SUN5; SPGF16; spermatogenic failure 16; SPGF16; spermatogenic failure type 16; spermatogenic failure 16
Definition Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DISJT1VL: Spermatogenic failure 16
Disease Identifiers
MONDO ID
MONDO_0014961
UMLS CUI
C4310674
OMIM ID
617187
MedGen ID
934641

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DNAJB13 OT264P6X Limited Biomarker [1]
NR2E1 OTW47GKM Limited Biomarker [1]
PMFBP1 OTA551F7 Strong Genetic Variation [2]
SUN5 OTUVKA6R Strong Autosomal recessive [3]
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References

1 Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.J Biol Chem. 2018 Feb 16;293(7):2395-2407. doi: 10.1074/jbc.RA117.000861. Epub 2018 Jan 3.
2 Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. Am J Hum Genet. 2018 Aug 2;103(2):188-199. doi: 10.1016/j.ajhg.2018.06.010. Epub 2018 Jul 19.
3 [On advanced, productive interpersonal relations]. Sykepleien. 1977 Sep 5;64(14):784-7.