MCID: NPH039
MIFTS: 19

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

Categories: Genetic diseases (common), Nephrological diseases

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 49 11 22 65
Nephrotic Syndrome 5 with or Without Ocular Abnormalities 67 24
 
Nphs5 22 67

Characteristics:

HPO:

61
nephrotic syndrome, type 5, with or without ocular abnormalities:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614199
MedGen34 C3280113
MeSH36 D009404
UMLS65 C3280113

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

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OMIM:49 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, also known as nephrotic syndrome 5 with or without ocular abnormalities, is related to pierson syndrome and nephrotic syndrome, type 1, and has symptoms including proteinuria, nephrotic syndrome and strabismus. An important gene associated with Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities is LAMB2 (Laminin Subunit Beta 2). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot:67 Nephrotic syndrome 5 with or without ocular abnormalities: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

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

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Diseases related to Nephrotic Syndrome, Type 5, with or Without Ocular Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pierson syndrome9.9
2nephrotic syndrome, type 19.9

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 6)
id Description Frequency HPO Source Accession
1 proteinuria HP:0000093
2 nephrotic syndrome HP:0000100
3 strabismus HP:0000486
4 myopia HP:0000545
5 nystagmus HP:0000639
6 stage 5 chronic kidney disease HP:0003774

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

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Interventional clinical trials:

Search ClinicalTrials, 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 Abnormalities22 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:

33
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:

67
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
5LAMB2NM_002292.3(LAMB2): c.4804delC (p.Gln1602Argfs)deletionPathogenicrs769399002GRCh38Chr 3, 49122063: 49122063
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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet