Details of Disease

General Information of Disease (ID: DISW4C02)

Disease Name Heterotaxy, visceral, 8, autosomal
Synonyms visceral heterotaxy caused by mutation in PKD1L1; heterotaxy, visceral, 8, autosomal; HTX8; PKD1L1 visceral heterotaxy; heterotaxy, visceral, 8, autosomal; HTX8
Definition Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene.
Disease Hierarchy
DIS1DV90: Visceral heterotaxy
DISW4C02: Heterotaxy, visceral, 8, autosomal
Disease Identifiers
MONDO ID
MONDO_0014967
UMLS CUI
C4310668
OMIM ID
617205
MedGen ID
934635

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
PKD1L1 OTLAARJ1 Strong Autosomal recessive [1]
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References

1 Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi: 10.1016/j.ajhg.2016.07.011. Epub 2016 Sep 8.