MCID: NPH039
MIFTS: 15

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

Nephrological diseases category

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

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46OMIM, 32MalaCards
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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:46 614199

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

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
lamb-2-related infantile-onset nephrotic syndrome 48


External Ids:

OMIM46 614199
ICD10 via Orphanet26 N04

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

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

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46OMIM
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Clinical features from OMIM:

614199

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

Drug clinical trials:

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

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

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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

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

62
id Symbol AA change Variation ID SNP ID
1LAMB2p.His147ArgVAR_066492

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

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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

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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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet