MCID: PRT069

Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis malady

Genetic diseases (common), Nephrological diseases categories

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

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48OMIM, 34MalaCards
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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:48 308990

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

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48OMIM
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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 48


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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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65UniProtKB/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:

65
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, 16Gene 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
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