Details of Disease

General Information of Disease (ID: DIS9T10W)

Disease Name Focal segmental glomerulosclerosis 7
Synonyms
glomerulosclerosis, focal segmental, 7; focal segmental glomerulosclerosis 7; focal segmental glomerulosclerosis caused by mutation in PAX2; FSGS7; PAX2 focal segmental glomerulosclerosis; focal segmental glomerulosclerosis type 7
Definition Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene.
Disease Hierarchy
DISCPRVI: Inherited focal segmental glomerulosclerosis
DIS9T10W: Focal segmental glomerulosclerosis 7
Disease Identifiers
MONDO ID
MONDO_0014451
UMLS CUI
C4014925
OMIM ID
616002
MedGen ID
863362

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
PAX2 OTKP1N8F Definitive Autosomal dominant [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.