MCID: NPH039
MIFTS: 14

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

Genetic diseases (common), Nephrological diseases categories

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

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

Name: Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities 46 9 20 22


Classifications:



External Ids:

OMIM46 614199

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 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)). Affiliated tissues include kidney.

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 Abnormalities20 22 LAMB2

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

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

31
Kidney

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:

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

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet