Details of Disease

General Information of Disease (ID: DISYTX66)

Disease Name Heterotaxy, visceral, 9, autosomal, with male infertility
Synonyms HTX9; heterotaxy, visceral, 9, autosomal, with male infertility; HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY
Disease Hierarchy
DIS1DV90: Visceral heterotaxy
DISYTX66: Heterotaxy, visceral, 9, autosomal, with male infertility
Disease Identifiers
MONDO ID
MONDO_0030070
UMLS CUI
C5394551
OMIM ID
618948
MedGen ID
1717772

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
MNS1 OT67F3JQ Strong Autosomal recessive [1]
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References

1 MNS1 variant associated with situs inversus and male infertility. Eur J Hum Genet. 2020 Jan;28(1):50-55. doi: 10.1038/s41431-019-0489-z. Epub 2019 Sep 18.