Details of Disease

General Information of Disease (ID: DISYDJ28)

Disease Name Nephrotic syndrome, type 10
Synonyms NPHS10; nephrotic syndrome caused by mutation in EMP2; nephrotic syndrome, type 10; EMP2 nephrotic syndrome
Definition Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene.
Disease Hierarchy
DISQ53RS: Familial idiopathic steroid-resistant nephrotic syndrome
DISSPSC2: Nephrotic syndrome
DISYDJ28: Nephrotic syndrome, type 10
Disease Identifiers
MONDO ID
MONDO_0014373
UMLS CUI
C4014507
OMIM ID
615861
MedGen ID
862944

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
EMP2 OTPS2H0L Strong Autosomal recessive [1]
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References

1 Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet. 2014 Jun 5;94(6):884-90. doi: 10.1016/j.ajhg.2014.04.010. Epub 2014 May 8.