Nephrotic syndrome, type 5, with or without ocular abnormalities

Preferred Label : Nephrotic syndrome, type 5, with or without ocular abnormalities;

Symbol : NPHS5;

CISMeF acronym : NPHS5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mesangial sclerosis, diffuse renal, with ocular abnormalities;

Description : Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus (summary by Hasselbacher et al., 2006). Mutation in the LAMB2 gene can also caused Pierson syndrome (609049), which is characterized by nephrotic syndrome, distinct ocular anomalies, namely microcoria, and neurodevelopmental delay. For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).;

Prefixed ID : #614199;

Details

Origin ID

614199;

UMLS CUI

C3280113;

Automatic exact mappings (from CISMeF team)
- LAMB2-related infantile-onset nephrotic syndrome [ORDO Disease]
- laminin subunit beta 2 [ORDO Gene]
- laminin subunit beta 2 [HGNC gene]
Currated CISMeF NLP mapping
- nephrotic syndrome type 5 [DO Concept]
DO Cross reference
- nephrotic syndrome type 5 [DO Concept]
Genes related to phenotype
- Laminin, beta-2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Myopia [HPO term]
- Nephrotic syndrome [HPO term]
- Nystagmus [HPO term]
- Proteinuria [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- LAMB2-related infantile-onset nephrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mesangial sclerosis, diffuse renal, with ocular abnormalities [MeSH Supplementary Concept]

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