MCID: PRT121
MIFTS: 19

Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

MalaCards integrated aliases for Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis:

Name: Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 57 29 6
Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis 57 13
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 75
Lmwphn 75

Characteristics:

OMIM:

57
Miscellaneous:
usually asymptomatic
slowly progressive disorder
part of 'dent disease complex' (see )

Inheritance:
x-linked recessive


HPO:

32
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis:
Onset and clinical course slow progression
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

UniProtKB/Swiss-Prot : 75 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 Hypercalciuria and Nephrocalcinosis, also known as proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, is related to dent disease 1. An important gene associated with Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis is CLCN5 (Chloride Voltage-Gated Channel 5). Affiliated tissues include bone, and related phenotypes are renal insufficiency and tubular atrophy

OMIM : 57 Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. (308990)

Related Diseases for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

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

# Related Disease Score Top Affiliating Genes
1 dent disease 1 11.8

Symptoms & Phenotypes for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Genitourinary Kidneys:
nephrocalcinosis
proximal renal tubule defect
a subset of patients develop renal insufficiency with decreased creatinine clearance
renal biopsy shows focal tubular atrophy (in 33%)
focal glomerulosclerosis (in 33%)

Laboratory Abnormalities:
hypercalciuria
microscopic hematuria
low-molecular-weight proteinuria
glycosuria (less common)
aminoaciduria (less common)
more

Clinical features from OMIM:

308990

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 32 HP:0000083
2 tubular atrophy 32 HP:0000092
3 focal segmental glomerulosclerosis 32 HP:0000097
4 proximal tubulopathy 32 HP:0000114
5 nephrocalcinosis 32 HP:0000121
6 hypophosphatemia 32 HP:0002148
7 hypercalciuria 32 HP:0002150
8 microscopic hematuria 32 HP:0002907
9 glycosuria 32 HP:0003076
10 low-molecular-weight proteinuria 32 HP:0003126
11 aminoaciduria 32 HP:0003355
12 short stature 32 HP:0004322

Drugs & Therapeutics for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

Search Clinical Trials , NIH Clinical Center for Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis

Genetic Tests for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

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

# Genetic test Affiliating Genes
1 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 29 CLCN5

Anatomical Context for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

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

41
Bone

Publications for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

Variations for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

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

75
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Arg280Pro VAR_001619 rs151340628
2 CLCN5 p.Ile524Lys VAR_065611

ClinVar genetic disease variations for Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN5 NM_001127899.3(CLCN5): c.1047G> A (p.Trp349Ter) single nucleotide variant Pathogenic rs151340620 GRCh37 Chromosome X, 49851017: 49851017
2 CLCN5 NM_001127899.3(CLCN5): c.1047G> A (p.Trp349Ter) single nucleotide variant Pathogenic rs151340620 GRCh38 Chromosome X, 50086360: 50086360
3 CLCN5 NM_001127899.3(CLCN5): c.1238G> A (p.Trp413Ter) single nucleotide variant Pathogenic rs151340627 GRCh37 Chromosome X, 49851208: 49851208
4 CLCN5 NM_001127899.3(CLCN5): c.1238G> A (p.Trp413Ter) single nucleotide variant Pathogenic rs151340627 GRCh38 Chromosome X, 50086551: 50086551
5 CLCN5 CLCN5, 1-BP DEL, 2085C deletion Pathogenic
6 CLCN5 NM_001127899.3(CLCN5): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs151340628 GRCh37 Chromosome X, 49851019: 49851019
7 CLCN5 NM_001127899.3(CLCN5): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs151340628 GRCh38 Chromosome X, 50086362: 50086362

Expression for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

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

Pathways for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

GO Terms for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

Sources for Proteinuria, Low Molecular Weight, with Hypercalciuria and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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