Details of Disease

General Information of Disease (ID: DISSH64O)

Disease Name Galloway-Mowat syndrome 8
Synonyms GALLOWAY-MOWAT SYNDROME 8; GAMOS8
Disease Hierarchy
DISVB7IM: Galloway-Mowat syndrome
DISSH64O: Galloway-Mowat syndrome 8
Disease Identifiers
MONDO ID
MONDO_0032693
UMLS CUI
C5193045
OMIM ID
618349
MedGen ID
1675829

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
NUP133 OTC294HE Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol. 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370.