Details of Disease

General Information of Disease (ID: DISBWRMJ)

Disease Name X-linked Alport syndrome
Synonyms
ATS; hemorrhagic familial nephritis; hemorrhagic hereditary nephritis; congenital hereditary hematuria; nephropathy and deafness, X-linked; Alport syndrome, X-linked; X-linked Alport syndrome; Alport syndrome 1, X-linked, X-linked dominant
Definition X-linked form of Alport syndrome.
Disease Hierarchy
DIS25AB4: Alport syndrome
DIS3PN9X: X-linked disease
DISBWRMJ: X-linked Alport syndrome
Disease Identifiers
MONDO ID
MONDO_0010520
UMLS CUI
C4746986
OMIM ID
301050
MedGen ID
1648433
Orphanet ID
88917

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
COL4A5 OTHG60RE Definitive X-linked [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.