Nephrotic syndrome, type 15

Preferred Label : Nephrotic syndrome, type 15;

Symbol : NPHS15;

CISMeF acronym : NPHS15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the membrane-associated guanylate kinase, WW and PDZ domains-containing, 2 gene (MAGI2, 606382.0001);

Laboratory abnormalities : Hypoalbuminemia; Proteinuria;

Prefixed ID : #617609;

Details

Origin ID

617609;

UMLS CUI

C4539896;

Currated CISMeF NLP mapping
- nephrotic syndrome type 15 [DO Concept]
DO Cross reference
- nephrotic syndrome type 15 [DO Concept]
Genes related to phenotype
- Membrane-associated guanylate kinase, ww and pdz domains-containing, 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypoalbuminemia [HPO term]
- Minimal change glomerulonephritis [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Stage 5 chronic kidney disease [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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