Details of Disease

General Information of Disease (ID: DIS3D1AI)

Disease Name Spermatogenic failure
Synonyms spermatogenic failure
Definition A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.
Disease Hierarchy
DISY3YZZ: Male infertility
DISYKSRF: Genetic disease
DIS3D1AI: Spermatogenic failure
Disease Identifiers
MONDO ID
MONDO_0004983
UMLS CUI
C3553794
MedGen ID
766708

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DMC1 OT1FHMW4 Limited Autosomal recessive [1]
SHOC1 OTP51XIP Limited Autosomal recessive [2]
STX2 OTO2IDDR Limited Autosomal recessive [1]
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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 Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia. J Med Genet. 2021 Oct;58(10):679-686. doi: 10.1136/jmedgenet-2020-107042. Epub 2020 Sep 8.