LAMB-2-related infantile-onset nephrotic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NPHS5
Number of Symptoms 7
OrphanetNr: 306507
OMIM Id: 614199
ICD-10: N04
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital and infantile nephrotic syndrome
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
2
(HPO:0000093) Proteinuria 169 / 7739
3
(HPO:0000100) Nephrotic syndrome 83 / 7739
4
(HPO:0000486) Strabismus Frequent [HPO:probinson] 576 / 7739
5
(HPO:0000545) Myopia Frequent [HPO:probinson] 286 / 7739
6
(HPO:0000639) Nystagmus Frequent [HPO:probinson] 555 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Hasselbacher et al. (2006) reported 2 unrelated families with congenital nephrotic syndrome, one of which also had mild ocular abnormalities. In 1 family 2 sibs developed proteinuria before the age of 3 months and end-stage renal failure within ...
Genotype-Phenotype Correlations OMIM Hasselbacher et al. (2006) stated that homozygosity or compound heterozygosity for LAMB2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated consistently with the typical features of Pierson syndrome, including neonatal renal failure, severe ...
Molecular genetics OMIM In 2 affected sibs in a consanguineous Turkish family segregating isolated congenital nephrotic syndrome, Hasselbacher et al. (2006) identified a homozygous missense mutation in the LAMB2 gene (150325.0006). In a German-Caucasian family in which 2 sibs had congenital ...