Nephrotic syndrome, type 9

Preferred Label : Nephrotic syndrome, type 9;

Symbol : NPHS9;

CISMeF acronym : NPHS9;

Type : Phenotype, molecular basis known;

Description : Nephrotic syndrome type 9 (NPHS9) is an autosomal recessive chronic kidney disorder characterized by significant proteinuria resulting in hypoalbuminemia and edema. Onset is in the first or second decade of life. The disorder is steroid treatment-resistant and usually progresses to end-stage renal disease requiring transplantation. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) or collapsing FSGS (summary by Ashraf et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (256300).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the AARF domain-containing kinase 4 gene (ADCK4, 615567.0001);

Laboratory abnormalities : Defective mitochondrial respiratory enzyme activity; Hypoalbuminemia; Proteinuria; Decreased CoQ10 levels in lymphoblasts or fibroblasts;

Prefixed ID : #615573;

Details

Origin ID

615573;

UMLS CUI

C3809965;

Currated CISMeF NLP mapping
- nephrotic syndrome type 9 [DO Concept]
DO Cross reference
- nephrotic syndrome type 9 [DO Concept]
Genes related to phenotype
- Coenzyme q8b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Edema [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Hypoalbuminemia [HPO term]
- Nephrotic syndrome [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephrotic syndrome type 9 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients