MCID: NPH039
MIFTS: 14

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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48OMIM, 34MalaCards
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MalaCards: Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities, is also known as lamb2-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:48 614199

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

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21GeneTests, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 50 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

50
lamb2-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 21 23 48
lamb2-related infantile-onset nephrotic syndrome 50


External Ids:

OMIM48 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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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

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21GeneTests, 23GTR
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities:

65
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:

1
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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2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet