Nephrotic syndrome, type 8

Preferred Label : Nephrotic syndrome, type 8;

Symbol : NPHS8;

CISMeF acronym : NPHS8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Rho GDP-dissociation inhibitor alpha gene (ARHGDIA, 601925.0001);

Laboratory abnormalities : Hypoalbuminemia; Proteinuria;

Prefixed ID : #615244;

Details

Origin ID

615244;

UMLS CUI

C3808953;

Currated CISMeF NLP mapping
- nephrotic syndrome type 8 [DO Concept]
DO Cross reference
- nephrotic syndrome type 8 [DO Concept]
Genes related to phenotype
- Rho gdp-dissociation inhibitor alpha [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Chronic kidney disease [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Edema [HPO term]
- Hypoalbuminemia [HPO term]
- Intellectual disability [HPO term]
- Neonatal onset [HPO term]
- Nephrotic syndrome [HPO term]
- Proteinuria [HPO term]
- Rapidly progressive [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Thin glomerular basement membrane [HPO term]
ORDO concept(s)
- Genetic steroid-resistant nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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