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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MalaCards based summary: Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis and has symptoms including An important gene associated with Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis is CLCN5 (chloride channel, voltage-sensitive 5).

Description from OMIM:46 308990

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

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Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis, Aliases & Descriptions:

Name: Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis 46


Classifications:

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


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

HPO human phenotypes related to Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis:

(show all 14)
id Description Frequency HPO Source Accession
1 renal insufficiency HP:0000083
2 tubular atrophy HP:0000092
3 focal segmental glomerulosclerosis HP:0000097
4 proximal tubulopathy HP:0000114
5 nephrocalcinosis HP:0000121
6 x-linked recessive inheritance HP:0001419
7 hypophosphatemia HP:0002148
8 hypercalciuria HP:0002150
9 microscopic hematuria HP:0002907
10 glycosuria HP:0003076
11 low-molecular-weight proteinuria HP:0003126
12 aminoaciduria HP:0003355
13 slow progression HP:0003677
14 short stature HP:0004322

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

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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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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:

6
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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Expression patterns in normal tissues for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis

Search GEO for disease gene expression data for Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis.

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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet