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...

About this section

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

Name: Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis 50 12
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 68 25
 
Lmwphn 68

Characteristics:

HPO:

62
proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis:
Inheritance: x-linked recessive inheritance
Onset and clinical course: slow progression


Classifications:



External Ids:

OMIM50 308990
MedGen35 C1839874
MeSH37 D015499

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

About this section
UniProtKB/Swiss-Prot:68 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:50 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...

About this section

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 disease11.8

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

About this section

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 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 hypophosphatemia HP:0002148
7 hypercalciuria HP:0002150
8 microscopic hematuria HP:0002907
9 glycosuria HP:0003076
10 low-molecular-weight proteinuria HP:0003126
11 aminoaciduria HP:0003355
12 short stature HP:0004322

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

About this section

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...

About this section

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

id Genetic test Affiliating Genes
1 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis25

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

About this section

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

34
Bone

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

About this section

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

About this section

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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis:

68
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)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...

About this section
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...

About this section

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

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet