LMWPHN
MCID: PRT121
MIFTS: 24

Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis (LMWPHN)

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
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 72 36
Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis 57 13
Low Molecular Weight Proteinuria with Hypercalciuric Nephrocalcinosis 12
Lmwphn 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
usually asymptomatic
slowly progressive disorder
part of 'dent disease complex' (see )

Inheritance:
x-linked recessive


HPO:

31
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 : 72 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 low molecular weight proteinuria with hypercalciuria and 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 kidney, and related phenotypes are short stature and hypophosphatemia

Disease Ontology : 12 A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has material basis in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.22.

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) (Updated 05-Apr-2021)

KEGG : 36 Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrolithiasis. It is renal proximal tubulopathy in Japanese children that has similarities to Dent disease. However, patients do not suffer from rickets or renal failure. Mutations of a renal chloride channel gene, CLCN5, have been reported.

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 12.0

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

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

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 hypophosphatemia 31 HP:0002148
3 aminoaciduria 31 HP:0003355
4 renal insufficiency 31 HP:0000083
5 nephrocalcinosis 31 HP:0000121
6 hypercalciuria 31 HP:0002150
7 proximal tubulopathy 31 HP:0000114
8 glycosuria 31 HP:0003076
9 microscopic hematuria 31 HP:0002907
10 low-molecular-weight proteinuria 31 HP:0003126
11 renal tubular atrophy 31 HP:0000092
12 focal segmental glomerulosclerosis 31 HP:0000097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

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

Clinical features from OMIM®:

308990 (Updated 05-Apr-2021)

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:

40
Kidney

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

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

(show all 13)
# Title Authors PMID Year
1
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). 57 6
9062355 1997
2
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. 57
15558518 2004
3
X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. 57
9452994 1998
4
Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. 57
9328929 1997
5
Mutations in the CLCN5 gene in Japanese patients with familial idiopathic low-molecular-weight proteinuria. 57
9328927 1997
6
A common molecular basis for three inherited kidney stone diseases. 6
8559248 1996
7
Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom? 57
7753256 1995
8
Familial progressive renal tubulopathy. 57
1582058 1992
9
Frequency of elevated urinary beta 2-microglobulin levels in relatives of patients with asymptomatic low-molecular-weight proteinuria. 57
1867978 1991
10
The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: a survey of 53 patients. 57
1689232 1990
11
Asymptomatic low molecular weight proteinuria: studies in five patients. 57
3308234 1987
12
Asymptomatic low molecular weight proteinuria: a report on 5 cases. 57
4006335 1985
13
Tubular proteinuria in children without other defects of renal function. 57
4010847 1985

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN5 NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) SNV Pathogenic 11796 rs151340620 GRCh37: X:49851017-49851017
GRCh38: X:50086360-50086360
2 CLCN5 NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter) SNV Pathogenic 11803 rs151340627 GRCh37: X:49851208-49851208
GRCh38: X:50086551-50086551
3 CLCN5 NM_001127898.4(CLCN5):c.2295del (p.Met766fs) Deletion Pathogenic 11804 rs1569540520 GRCh37: X:49855476-49855476
GRCh38: X:50090819-50090819
4 CLCN5 NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro) SNV Pathogenic 11805 rs151340628 GRCh37: X:49851019-49851019
GRCh38: X:50086362-50086362
5 CLCN5 NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter) SNV Pathogenic 973873 GRCh37: X:49837162-49837162
GRCh38: X:50072507-50072507

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

72
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Arg350Pro VAR_001619 rs151340628
2 CLCN5 p.Ile594Lys VAR_065611

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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