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 51 24 12
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 69 26
 
Lmwphn 69

Characteristics:

HPO:

63
proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis:
Inheritance: x-linked recessive inheritance
Onset and clinical course: slow progression

Classifications:



External Ids:

OMIM51 308990
MedGen36 C1839874
MeSH38 D015499

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

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UniProtKB/Swiss-Prot:69 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 renal insufficiency, tubular atrophy and focal segmental glomerulosclerosis. An important gene associated with Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis is CLCN5 (Chloride Voltage-Gated Channel 5). Affiliated tissues include bone.

OMIM:51 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 disease11.7

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

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Symptoms by clinical synopsis from OMIM:

308990

Clinical features from OMIM:

308990

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

 63 (show all 12)
id Description HPO Frequency HPO Source Accession
1 renal insufficiency63 HP:0000083
2 tubular atrophy63 HP:0000092
3 focal segmental glomerulosclerosis63 HP:0000097
4 proximal tubulopathy63 HP:0000114
5 nephrocalcinosis63 HP:0000121
6 hypophosphatemia63 HP:0002148
7 hypercalciuria63 HP:0002150
8 microscopic hematuria63 HP:0002907
9 glycosuria63 HP:0003076
10 low-molecular-weight proteinuria63 HP:0003126
11 aminoaciduria63 HP:0003355
12 short stature63 HP:0004322

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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Genetic tests related to Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis:

id Genetic test Affiliating Genes
1 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis26
2 Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis24 CLCN5

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:

35
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:

69
id Symbol AA change Variation ID SNP ID
1CLCN5p.Arg280ProVAR_001619rs151340628
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)SNVPathogenicrs151340620GRCh37Chr X, 49851017: 49851017
2CLCN5NM_001127899.3(CLCN5): c.1238G> A (p.Trp413Ter)SNVPathogenicrs151340627GRCh37Chr X, 49851208: 49851208
3CLCN5CLCN5, 1-BP DEL, 2085CdeletionPathogenicChr na, -1: -1
4CLCN5NM_001127899.3(CLCN5): c.1049G> C (p.Arg350Pro)SNVPathogenicrs151340628GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet