LMWPHN
MCID: PRT069
MIFTS: 19

Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis (LMWPHN) malady

Categories: Genetic diseases, Nephrological diseases

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

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

Name: Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis 54 24 13
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 66 29
Lmwphn 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 308990
MedGen 40 C1839874
MeSH 42 D015499

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

UniProtKB/Swiss-Prot : 66 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, renal insufficiency and hypophosphatemia. An important gene associated with Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis is CLCN5 (Chloride Voltage-Gated Channel 5). Affiliated tissues include bone.

OMIM : 54 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...

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

id Related Disease Score Top Affiliating Genes
1 dent disease 11.7

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

Symptoms by clinical synopsis from OMIM:

308990

Clinical features from OMIM:

308990

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

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

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

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

Genetic Tests for Proteinuria, Low Molecular Weight, with Hypercalciuric...

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

id Genetic test Affiliating Genes
1 Proteinuria, Low Molecular Weight, with Hypercalciuria and Nephrocalcinosis 29
2 Proteinuria, Low Molecular Weight, with Hypercalciuric Nephrocalcinosis 24 CLCN5

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

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

39
Bone

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

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

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

66
id 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 Hypercalciuric Nephrocalcinosis:

6
id 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.1238G> A (p.Trp413Ter) single nucleotide variant Pathogenic rs151340627 GRCh37 Chromosome X, 49851208: 49851208
3 CLCN5 CLCN5, 1-BP DEL, 2085C deletion Pathogenic
4 CLCN5 NM_001127899.3(CLCN5): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs151340628 GRCh37 Chromosome X, 49851019: 49851019

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....