Details of Disease

General Information of Disease (ID: DIS15COB)

Disease Name Nephrotic syndrome, type 6
Synonyms NPHS6; PTPRO nephrotic syndrome; nephrotic syndrome, type 6; nephrotic syndrome caused by mutation in PTPRO
Definition Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene.
Disease Hierarchy
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISSPSC2: Nephrotic syndrome
DIS15COB: Nephrotic syndrome, type 6
Disease Identifiers
MONDO ID
MONDO_0013619
UMLS CUI
C3280100
OMIM ID
614196
MedGen ID
481730

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
PTPRO OTFLKWOY Strong Autosomal recessive [1]
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References

1 Altered podocyte structure in GLEPP1 (Ptpro)-deficient mice associated with hypertension and low glomerular filtration rate. J Clin Invest. 2000 Nov;106(10):1281-90. doi: 10.1172/JCI7236.