MCID: NPH039
MIFTS: 19

Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

MalaCards integrated aliases for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

Name: Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 53 28 13 69
Nphs5 53 71
Nephrotic Syndrome 5 with or Without Ocular Abnormalities 71
Lamb2-Related Infantile-Onset Nephrotic Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
lamb2-related infantile-onset nephrotic syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

31
nephrotic syndrome, type 5, with or without ocular abnormalities:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare renal diseases


External Ids:

OMIM 53 614199
Orphanet 55 ORPHA306507
ICD10 via Orphanet 33 N04.8
MedGen 39 C3280113
MeSH 41 D009404
UMLS 69 C3280113

Summaries for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

OMIM : 53 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 cause 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). (614199)

MalaCards based summary : Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities, also known as nphs5, is related to pierson syndrome, and has symptoms including proteinuria, nephrotic syndrome and strabismus. An important gene associated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities is LAMB2 (Laminin Subunit Beta 2). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : 71 Nephrotic syndrome 5 with or without ocular abnormalities: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

Related Diseases for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Diseases related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pierson syndrome 10.9

Symptoms & Phenotypes for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Clinical features from OMIM:

614199

Human phenotypes related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 nephrotic syndrome 31 HP:0000100
3 strabismus 31 frequent (33%) HP:0000486
4 myopia 31 frequent (33%) HP:0000545
5 nystagmus 31 frequent (33%) HP:0000639
6 stage 5 chronic kidney disease 31 HP:0003774

Drugs & Therapeutics for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Search Clinical Trials , NIH Clinical Center for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Genetic Tests for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Genetic tests related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

# Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 28 LAMB2

Anatomical Context for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

MalaCards organs/tissues related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

38
Kidney

Publications for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Variations for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

71
# Symbol AA change Variation ID SNP ID
1 LAMB2 p.Cys321Arg VAR_031970 rs121912492
2 LAMB2 p.Asn1380Lys VAR_031972 rs267607207
3 LAMB2 p.Leu1393Phe VAR_031973 rs267607208
4 LAMB2 p.His147Arg VAR_066492 rs387906644

ClinVar genetic disease variations for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMB2 NM_002292.3(LAMB2): c.737G> A (p.Arg246Gln) single nucleotide variant Pathogenic rs121912491 GRCh37 Chromosome 3, 49168561: 49168561
2 LAMB2 NM_002292.3(LAMB2): c.961T> C (p.Cys321Arg) single nucleotide variant Pathogenic rs121912492 GRCh37 Chromosome 3, 49168248: 49168248
3 LAMB2 LAMB2, 1-BP DEL, 1478G deletion Pathogenic
4 LAMB2 NM_002292.3(LAMB2): c.4804delC (p.Gln1602Argfs) deletion Pathogenic rs769399002 GRCh38 Chromosome 3, 49122063: 49122063
5 LAMB2 NM_002292.3(LAMB2): c.440A> G (p.His147Arg) single nucleotide variant Pathogenic rs387906644 GRCh37 Chromosome 3, 49169568: 49169568
6 LAMB2 NM_002292.3(LAMB2): c.4773dup (p.Arg1592Alafs) duplication Pathogenic GRCh37 Chromosome 3, 49159604: 49159604

Expression for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Search GEO for disease gene expression data for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities.

Pathways for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

GO Terms for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Sources for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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41 MeSH
42 MESH via Orphanet
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50 NINDS
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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