MCID: NPH039
MIFTS: 17

Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities malady

Genetic diseases, Nephrological diseases, Rare diseases categories

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

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OMIM:46 Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal...614199 more...

MalaCards based summary: Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities, is also known as lamb2-related infantile-onset nephrotic syndrome, and has symptoms including autosomal recessive inheritance, proteinuria and nephrotic syndrome. An important gene associated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities is LAMB2 (laminin, beta 2 (laminin S)).

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

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Sources:
21GeneTests, 23GTR, 46OMIM, 48Orphanet, 27ICD10 via Orphanet
See all sources

Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities, Aliases & Descriptions:

Name: Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 21 23 46
 
Lamb2-Related Infantile-Onset Nephrotic Syndrome 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 48 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

48
lamb2-related infantile-onset nephrotic syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 614199
ICD10 via Orphanet27 N04

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

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

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Clinical features from OMIM:

614199

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

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 proteinuria HP:0000093
3 nephrotic syndrome HP:0000100
4 strabismus HP:0000486
5 myopia HP:0000545
6 nystagmus HP:0000639
7 stage 5 chronic kidney disease HP:0003774

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

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Drug clinical trials:

Search ClinicalTrials for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Search 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

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

id Genetic test Affiliating Genes
1 Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities21 23 LAMB2

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

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Animal Models for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities or affiliated genes

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

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

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

63
id Symbol AA change Variation ID SNP ID
1LAMB2p.His147ArgVAR_066492

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

7
id Gene Name Type Significance SNP ID Assembly Location
1LAMB2NM_002292.3(LAMB2): c.737G> A (p.Arg246Gln)single nucleotide variantPathogenicrs121912491GRCh37Chr 3, 49168561: 49168561
2LAMB2NM_002292.3(LAMB2): c.4140C> A (p.Asn1380Lys)single nucleotide variantPathogenicrs267607207GRCh37Chr 3, 49160649: 49160649
3LAMB2NM_002292.3(LAMB2): c.961T> C (p.Cys321Arg)single nucleotide variantPathogenicrs121912492GRCh37Chr 3, 49168248: 49168248
4LAMB2LAMB2, 1-BP DEL, 1478GdeletionPathogenic
5LAMB2LAMB2, 1-BP DEL, 4804CdeletionPathogenic
6LAMB2NM_002292.3(LAMB2): c.440A> G (p.His147Arg)single nucleotide variantPathogenicrs387906644GRCh37Chr 3, 49169568: 49169568

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

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Expression patterns in normal tissues for genes affiliated with 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 genes affiliated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

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Compounds for genes affiliated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

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

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Products for genes affiliated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet