MCID: PRT069
MIFTS: 19

Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis malady

Categories: Genetic diseases (common), Nephrological diseases

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

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

Name: Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis 49 11
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 67 24
 
Lmwphn 67

Characteristics:

HPO:

61
proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis:
Onset and clinical course: slow progression
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 308990
MedGen34 C1839874
MeSH36 D015499

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

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UniProtKB/Swiss-Prot:67 Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis: An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. LMWPHN is a slowly progressive disorder. Patients tend to have hypercalciuric nephrocalcinosis without rickets or renal failure.

MalaCards based summary: Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis, also known as low molecular weight proteinuria with hypercalciuria and nephrocalcinosis, is related to dent disease, and has symptoms including short stature, aminoaciduria and low-molecular-weight proteinuria. An important gene associated with Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis is CLCN5 (Chloride Voltage-Gated Channel 5). Affiliated tissues include bone.

OMIM:49 Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric... (308990) more...

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

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Diseases related to Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dent disease12.0

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

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

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis

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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MalaCards organs/tissues related to Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis:

33
Bone

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:

67
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:

5
id Gene Variation 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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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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GO Terms for genes affiliated with Proteinuria, Low Molecular Weight, with Hypercalciuric...

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

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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