MCID: NPH039
MIFTS: 10

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

Nephrological category

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

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47OMIM, 33MalaCards
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MalaCards: Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities, is also known as lamb-2-related infantile-onset nephrotic syndrome An important gene associated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities is LAMB2 (laminin, beta 2 (laminin S)).

Description from OMIM:47 614199

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

Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological


Characteristics (Orphanet epidemiological data):

49
lamb-2-related infantile-onset nephrotic syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

nephrotic syndrome, type 5, with or without ocular abnormalities 20 22 47
lamb-2-related infantile-onset nephrotic syndrome 49


External Ids:

OMIM47 614199
ICD10 via Orphanet26 N04

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

Clinical Features for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

Sources:
47OMIM
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Clinical features from OMIM:

614199

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

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

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

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

Sources:
20GeneTests, 22GTR
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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 Abnormalities20 22 LAMB2

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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

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

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet