General Information of Disease (ID: DISBFCR1)

Disease Name Nephrotic syndrome, type 24
Synonyms idiopathic SRNS; idiopathic steroid-resistant nephrotic syndrome; NPHS24
Disease Hierarchy
DISSPSC2: Nephrotic syndrome
DISBFCR1: Nephrotic syndrome, type 24
Disease Identifiers
MONDO ID
MONDO_0031008
UMLS CUI
C5543267
OMIM ID
619263
MedGen ID
1781068
Orphanet ID
567548

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DAAM2 TTN0Z6H Strong Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DAAM2 OTC1WVZT Strong Autosomal recessive [1]
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References

1 DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet. 2020 Dec 3;107(6):1113-1128. doi: 10.1016/j.ajhg.2020.11.008. Epub 2020 Nov 23.