Details of Disease

General Information of Disease (ID: DISQNU6J)

Disease Name Focal segmental glomerulosclerosis 9
Synonyms
glomerulosclerosis, focal segmental, 9; focal segmental glomerulosclerosis type 9; FSGS9; focal segmental glomerulosclerosis caused by mutation in CRB2; focal segmental glomerulosclerosis 9; CRB2 focal segmental glomerulosclerosis
Definition Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene.
Disease Hierarchy
DISCPRVI: Inherited focal segmental glomerulosclerosis
DISQNU6J: Focal segmental glomerulosclerosis 9
Disease Identifiers
MONDO ID
MONDO_0014539
UMLS CUI
C4015555
OMIM ID
616220
MedGen ID
863992

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
CRB2 OTG0L2CE Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.