Nephrotic syndrome, type 7

Preferred Label : Nephrotic syndrome, type 7;

Symbol : NPHS7;

CISMeF acronym : AHUS7; NPHS7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis;

Included titles and symbols : Hemolytic uremic syndrome, atypical, susceptibility to, 7; Ahus, susceptibility to, 7; AHUS7;

Description : Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by Ozaltin et al., 2013). Atypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by Lemaire et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (235400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the diacylglycerol kinase, epsilon, 64-kD gene (DGKE, 601440.0001);

Laboratory abnormalities : Low serum albumin; Normal serum complement levels;

Prefixed ID : #615008;

Details

Origin ID

615008;

UMLS CUI

C3554330;

Automatic exact mappings (from CISMeF team)
- Immunoglobulin-mediated membranoproliferative glomerulonephritis [ORDO Disease]
Currated CISMeF NLP mapping
- nephrotic syndrome type 7 [DO Concept]
DO Cross reference
- nephrotic syndrome type 7 [DO Concept]
Genes related to phenotype
- Diacylglycerol kinase, epsilon, 64-kd [OMIM gene]
HPO term(s)
- Acute kidney injury [HPO term]
- Autosomal recessive inheritance [HPO term]
- Glomerulonephritis [HPO term]
- Hemolytic anemia [HPO term]
- Hemolytic-uremic syndrome [HPO term]
- Nephrotic syndrome [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Thickened glomerular basement membrane [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Atypical hemolytic uremic syndrome [ORDO Disease]
- Atypical hemolytic uremic syndrome with complement gene abnormality [ORDO Disease]
- Hemolytic uremic syndrome with DGKE deficiency [ORDO Disease]
- Immunoglobulin-mediated membranoproliferative glomerulonephritis [ORDO Disease]
- Primary membranoproliferative glomerulonephritis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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