MCID: PRT069

Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis malady

Genetic diseases (common), Nephrological diseases categories
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Summaries for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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47OMIM, 33MalaCards
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MalaCards: Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis An important gene associated with Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis is CLCN5 (chloride channel, voltage-sensitive 5).

Description from OMIM:47 308990

Aliases & Classifications for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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47OMIM
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Classifications:

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


Aliases & Descriptions:

proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 47


Related Diseases for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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Symptoms for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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Symptoms by clinical synopsis from OMIM:

308990

Clinical features from OMIM:

308990

Drugs & Therapeutics for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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Anatomical Context for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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Animal Models for Proteinuria, Low Molecular Weight, with Hypercalciuric... or affiliated genes

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Publications for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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Variations for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis:

64
id Symbol AA change Variation ID SNP ID
1CLCN5p.Arg280ProVAR_001619
2CLCN5p.Ile524LysVAR_065611

Clinvar genetic disease variations for Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1CLCN5NM_001127899.3(CLCN5): c.1047G> A (p.Trp349Ter)single nucleotide variantPathogenicrs151340620GRCh37Chr X, 49851017: 49851017
2CLCN5NM_001127899.3(CLCN5): c.1238G> A (p.Trp413Ter)single nucleotide variantPathogenicrs151340627GRCh37Chr X, 49851208: 49851208
3CLCN5CLCN5, 1-BP DEL, 2085CdeletionPathogenic
4CLCN5NM_001127899.3(CLCN5): c.1049G> C (p.Arg350Pro)single nucleotide variantPathogenicrs151340628GRCh37Chr X, 49851019: 49851019

Expression for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis

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Pathways for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

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Compounds for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

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GO Terms for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

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Products for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet