Details of Disease | DrugMAP

General Information of Disease (ID: DIS3M7W6)

Disease Name	Nail-patella-like renal disease
Synonyms	nail patella like renal disease; glomerular basement Membrane disease, nail-patella syndrome type; Salcedo syndrome; nail-patella-like renal disease; focal segmental glomerulosclerosis 10
Definition	A severe nephropathy characterized by renal dysfunction, proteinuria, edema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.
Disease Hierarchy	DISXWP4P: Nephropathy DIS3M7W6: Nail-patella-like renal disease
Disease Identifiers	MONDO ID MONDO_0009724 MESH ID C537228 UMLS CUI C0403548 OMIM ID 256020 MedGen ID 140789 Orphanet ID 2613 SNOMED CT ID 236527004

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
LMX1B	OTM8145D	Supportive	Autosomal dominant	[1]
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References

1	A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'. Clin Kidney J. 2015 Feb;8(1):113-9. doi: 10.1093/ckj/sfu129. Epub 2014 Dec 5.