MCID: DNT015
MIFTS: 55

Dent Disease malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Summaries for Dent Disease

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OMIM:45 The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular... (300009) more...

MalaCards based summary: Dent Disease, also known as dent disease type 1, is related to lowe syndrome and nephrolithiasis, and has symptoms including proximal tubulopathy, renal phosphate wasting and nephrocalcinosis. An important gene associated with Dent Disease is CLCN5 (chloride channel, voltage-sensitive 5), and among its related pathways are Metabolism of steroid hormones and vitamin D and Diuretics Pathway, Pharmacodynamics. The compounds 3-phenyl-cpp and niflumic acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and cortex, and related mouse phenotypes are no phenotypic analysis and reproductive system.

Genetics Home Reference:21 Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time.

GeneReviews summary for dent

Aliases & Classifications for Dent Disease

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Sources:
45OMIM, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Dent Disease, Aliases & Descriptions:

Name: Dent Disease 45 10 19 21 43 47
Dent Disease Type 1 41 20 47 22
Dent's Disease 63 20 21 60
Nephrolithiasis Type 1 41 47
Dent Disease 1 41 60
Dent Syndrome 47 22
Low-Molecular-Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 47
Renal Fanconi Syndrome with Nephrocalcinosis and Renal Stones 47
 
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets 47
Nephrolithiasis, Hypercalciuria X-Linked 41
Urolithiasis, Hypercalciuric X-Linked 41
X-Linked Recessive Nephrolithiasis 47
Genetic Hypercalciuria 63
Nephrolithiasis 2 41
Dents Disease 21
Nphl2 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 47 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

47
dent disease:
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult
dent disease type 1:
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult


External Ids:

OMIM45 300009
Orphanet47 1652, 93622
MESH via Orphanet34 C545036, D057973, C538212
ICD10 via Orphanet26 N25.8
UMLS via Orphanet61 C0878681, C1839874, C1848336

Related Diseases for Dent Disease

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Graphical network of diseases related to Dent Disease:



Diseases related to dent disease

Symptoms for Dent Disease

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Symptoms by clinical synopsis from OMIM:

300009

Clinical features from OMIM:

300009

HPO human phenotypes related to Dent Disease:

(show all 31)
id Description Frequency HPO Source Accession
1 proximal tubulopathy HP:0000114
2 renal phosphate wasting HP:0000117
3 nephrocalcinosis HP:0000121
4 nephrolithiasis HP:0000787
5 x-linked recessive inheritance HP:0001419
6 hypophosphatemia HP:0002148
7 hypercalciuria HP:0002150
8 bone pain HP:0002653
9 delayed epiphyseal ossification HP:0002663
10 rickets HP:0002748
11 osteomalacia HP:0002749
12 sparse bone trabeculae HP:0002752
13 thin bony cortex HP:0002753
14 recurrent fractures HP:0002757
15 microscopic hematuria HP:0002907
16 bowing of the legs HP:0002979
17 femoral bowing HP:0002980
18 tibial bowing HP:0002982
19 bulging epiphyses HP:0003013
20 enlargement of the wrists HP:0003020
21 metaphyseal irregularity HP:0003025
22 enlargement of the ankles HP:0003029
23 glycosuria HP:0003076
24 hyperphosphaturia HP:0003109
25 low-molecular-weight proteinuria HP:0003126
26 increased serum 1,25-dihydroxyvitamin d3 HP:0003152
27 aminoaciduria HP:0003355
28 phenotypic variability HP:0003812
29 short stature HP:0004322
30 fibular bowing HP:0010502
31 chronic kidney disease HP:0012622

Drugs & Therapeutics for Dent Disease

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Drug clinical trials:

Search ClinicalTrials for Dent Disease

Search NIH Clinical Center for Dent Disease

Genetic Tests for Dent Disease

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Genetic tests related to Dent Disease:

id Genetic test Affiliating Genes
1 Dent Disease20 OCRL
2 Dent Disease 120 22 CLCN5
3 Dent's Disease22

Anatomical Context for Dent Disease

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MalaCards organs/tissues related to Dent Disease:

31
Kidney, Bone, Cortex

Animal Models for Dent Disease or affiliated genes

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MGI Mouse Phenotypes related to Dent Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8TRPV6, CLCN5, INPP5E, LRP2
2MP:00053897.6TRPV6, LRP2, OCRL, REN, GH1
3MP:00053786.9LRP2, INPP5E, OCRL, REN, GH1, TRPV6
4MP:00053676.7CLCN4, CLCNKA, TRPV6, REN, CUBN, CLCN5
5MP:00053766.3LRP2, OCRL, CLCN5, CLCN4, CUBN, REN

Publications for Dent Disease

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Articles related to Dent Disease:

(show all 25)
idTitleAuthorsYear
1
Mutation Update of the Clcn5 Gene Responsible for Dent Disease 1. (25907713)
2015
2
Muscle involvement in Dent disease 2. (24912603)
2014
3
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients. (23572577)
2013
4
Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. (24081861)
2013
5
Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease. (22378746)
2012
6
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. (21031565)
2011
7
Heterogeneity in the processing of CLCN5 mutants related to Dent disease. (21305656)
2011
8
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. (21183592)
2011
9
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts. (21822997)
2011
10
Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1. (19673950)
2009
11
Growth hormone improves growth rate and preserves renal function in Dent disease. (18540256)
2008
12
Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial. (18976849)
2008
13
Renal manifestations of Dent disease and Lowe syndrome. (18038239)
2008
14
Dent disease presenting as partial Fanconi syndrome and hypercalciuria. (18235437)
2008
15
OCRL1 mutations in patients with Dent disease phenotype in Japan. (17384968)
2007
16
Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis. (17702731)
2007
17
Novel OCRL1 mutations in patients with the phenotype of Dent disease. (17162149)
2006
18
Dent disease with mutations in OCRL1. (15627218)
2005
19
A 3-year-old child with proteinuria and nephrocalcinosis. Suspicion of Dent disease. (15365802)
2004
20
Megalin and proximal renal tubular dysfunction in Dent disease. (15338396)
2004
21
Examination of megalin in renal tubular epithelium from patients with Dent disease. (15052463)
2004
22
Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene. (15264294)
2004
23
Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis. (10373326)
1999
24
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). (8575751)
1995
25
Dent Disease (22876375)
1993

Variations for Dent Disease

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UniProtKB/Swiss-Prot genetic disease variations for Dent Disease:

62 (show all 28)
id Symbol AA change Variation ID SNP ID
1CLCN5p.Gly57ValVAR_001616
2CLCN5p.Leu200ArgVAR_001617
3CLCN5p.Gly512ArgVAR_001621
4CLCN5p.Ser520ProVAR_001622
5CLCN5p.Glu527AspVAR_001623
6CLCN5p.Gly179AspVAR_065591
7CLCN5p.Ser203LeuVAR_065592
8CLCN5p.Gly212AlaVAR_065593
9CLCN5p.Cys219ArgVAR_065594
10CLCN5p.Cys221ArgVAR_065595
11CLCN5p.Leu225ProVAR_065596
12CLCN5p.Gly260ValVAR_065597
13CLCN5p.Glu267AlaVAR_065598
14CLCN5p.Ser270GlyVAR_065600
15CLCN5p.Ser270ArgVAR_065601
16CLCN5p.Tyr272CysVAR_065602
17CLCN5p.Phe273LeuVAR_065603
18CLCN5p.Leu278PheVAR_065604
19CLCN5p.Asn340LysVAR_065605
20CLCN5p.Gly462AspVAR_065606
21CLCN5p.Leu469ProVAR_065607
22CLCN5p.Gly513GluVAR_065608
23CLCN5p.Gly513ArgVAR_065609
24CLCN5p.Arg516TrpVAR_065610
25CLCN5p.Ser545AsnVAR_065612
26CLCN5p.Lys546GluVAR_065613
27CLCN5p.Trp547GlyVAR_065614
28CLCN5p.Thr657SerVAR_065615rs144207967

Clinvar genetic disease variations for Dent Disease:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1OCRLNM_000276.3(OCRL): c.1436A> G (p.Tyr479Cys)single nucleotide variantPathogenicrs137853262GRCh37Chr X, 128701310: 128701310
2OCRLNM_000276.3(OCRL): c.952C> T (p.Arg318Cys)single nucleotide variantPathogenicrs137853263GRCh37Chr X, 128696373: 128696373
3CLCN5NM_001127899.3(CLCN5): c.1047G> A (p.Trp349Ter)single nucleotide variantPathogenicrs151340620GRCh37Chr X, 49851017: 49851017
4CLCN5NM_001127899.3(CLCN5): c.2152C> T (p.Arg718Ter)single nucleotide variantPathogenicrs151340621GRCh37Chr X, 49855335: 49855335
5CLCN5NM_001127899.3(CLCN5): c.809T> G (p.Leu270Arg)single nucleotide variantPathogenicrs151340622GRCh37Chr X, 49846380: 49846380
6CLCN5NM_001127899.3(CLCN5): c.1768T> C (p.Ser590Pro)single nucleotide variantPathogenicrs151340623GRCh37Chr X, 49854796: 49854796
7CLCN5NM_001127899.3(CLCN5): c.941C> T (p.Ser314Leu)single nucleotide variantPathogenicrs151340626GRCh37Chr X, 49850644: 49850644
8CLCN5NM_001127899.3(CLCN5): c.1238G> A (p.Trp413Ter)single nucleotide variantPathogenicrs151340627GRCh37Chr X, 49851208: 49851208
9CLCN5CLCN5, 1-BP DEL, 2085CdeletionPathogenic
10CLCN5NM_001127899.3(CLCN5): c.1049G> C (p.Arg350Pro)single nucleotide variantPathogenicrs151340628GRCh37Chr X, 49851019: 49851019
11CLCN5CLCN5, ALU INS, EX11insertionPathogenic
12CLCN5NM_001127899.3(CLCN5): c.989G> T (p.Gly330Val)single nucleotide variantPathogenicrs151340630GRCh37Chr X, 49850692: 49850692
13CLCN5CLCN5, IVS8DS, G-T, +1single nucleotide variantPathogenic
14OCRLOCRL, ARG476TRPsingle nucleotide variantPathogenic
15OCRLOCRL, ILE526THRsingle nucleotide variantPathogenic
16OCRLOCRL, 2-BP DEL, 166TTdeletionPathogenic
17CLCN5NM_001127899.3(CLCN5): c.1230C> A (p.Asn410Lys)single nucleotide variantPathogenicrs273585646GRCh37Chr X, 49851200: 49851200
18CLCN5NM_001127899.3(CLCN5): c.1747G> A (p.Gly583Arg)single nucleotide variantPathogenicrs273585647GRCh37Chr X, 49854775: 49854775
19CLCN5NM_001127899.3(CLCN5): c.1847A> G (p.Lys616Arg)single nucleotide variantPathogenicrs273585649GRCh37Chr X, 49854875: 49854875
20CLCN5NM_001127899.3(CLCN5): c.1849T> G (p.Trp617Gly)single nucleotide variantPathogenicrs273585650GRCh37Chr X, 49854877: 49854877
21CLCN5NM_001127899.3(CLCN5): c.884T> C (p.Leu295Pro)single nucleotide variantPathogenicrs273585645GRCh37Chr X, 49846455: 49846455
22CLCN5NM_001127899.3(CLCN5): c.1025A> G (p.Tyr342Cys)single nucleotide variantPathogenicrs273585644GRCh37Chr X, 49850995: 49850995
23CLCN5NM_001127899.3(CLCN5): c.1044G> C (p.Leu348Phe)single nucleotide variantPathogenicrs273585648GRCh37Chr X, 49851014: 49851014

Expression for genes affiliated with Dent Disease

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Search GEO for disease gene expression data for Dent Disease.

Pathways for genes affiliated with Dent Disease

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Pathways related to Dent Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8CUBN, LRP2
29.7CLCNKB, CLCNKA
39.7INPP5E, OCRL
4
Show member pathways
9.7OCRL, INPP5E
5
Show member pathways
9.0CLCN5, CLCNKA, CLCN4, CLCNKB
6
Show member pathways
8.5TRPV6, CLCNKB, CLCN4, CLCNKA, CLCN5
7
Show member pathways
8.5CLCN5, CLCNKA, CLCN4, CLCNKB, TRPV6
8
Show member pathways
8.2GH1, CLCNKB, CLCN4, CLCNKA, CLCN5

Compounds for genes affiliated with Dent Disease

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Compounds related to Dent Disease according to GeneCards Suite gene sharing:

(show all 24)
idCompoundScoreTop Affiliating Genes
13-phenyl-cpp2810.1CLCNKB, CLCNKA
2niflumic acid43 28 1212.0CLCNKB, CLCNKA
3dids43 2811.0CLCNKB, CLCNKA
4cobalamin43 2411.0LRP2, CUBN
51-Phosphatidyl-D-myo-inositol249.8OCRL, INPP5E
625-hydroxyvitamin d439.8CUBN, LRP2
7cd2+289.8CLCN4, TRPV6
8vitamin b12439.5LRP2, CUBN
9chlorine43 2410.4CLCN5, CLCNKA, CLCN4, CLCNKB
10nacl439.3CLCNKA, CLCNKB, REN
11metoclopramide43 49 1211.2REN, GH1
12desmopressin43 59 28 1212.2REN, GH1
1311beta-hydroxysteroid439.1REN, GH1
14potassium43 24 1211.1CLCNKB, REN, CLCNKA
15sodium43 2410.1LRP2, CLCNKA, CLCNKB, REN
16propranolol43 28 49 24 1213.0GH1, REN
17thyroxine43 2410.0LRP2, REN, GH1
18clonidine43 49 28 1211.9REN, GH1
19creatinine438.7GH1, REN, CLCN5, OCRL
20vitamin d438.7LRP2, CUBN, GH1, TRPV6
21chloride438.4OCRL, REN, CLCNKB, CLCN4, CLCNKA, CLCN5
22calcitriol43 59 24 1211.1GH1, REN, CUBN, LRP2, TRPV6
23steroid438.1REN, LRP2, CUBN, GH1, TRPV6
24calcium43 49 24 1210.9REN, CUBN, CLCNKB, CLCNKA, CLCN5, LRP2

GO Terms for genes affiliated with Dent Disease

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Cellular components related to Dent Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315269.8CUBN, LRP2
2endocytic vesicleGO:00301399.7CUBN, LRP2
3coated pitGO:00059059.6CUBN, OCRL, LRP2
4lysosomal membraneGO:00057659.5LRP2, CLCN5, CUBN
5endosome membraneGO:00100089.5CUBN, CLCN4, CLCN5
6chloride channel complexGO:00347079.4CLCNKA, CLCNKB
7integral component of plasma membraneGO:00058878.9TRPV6, CLCNKB, CLCNKA, CLCN5
8plasma membraneGO:00058867.7LRP2, OCRL, CLCNKA, CLCNKB, CUBN, REN

Biological processes related to Dent Disease according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1vitamin D metabolic processGO:00423599.9LRP2, CUBN
2receptor-mediated endocytosisGO:00068989.8LRP2, CUBN
3chloride transmembrane transportGO:019024769.7CLCN4, CLCN5
4phosphatidylinositol dephosphorylationGO:00468569.7OCRL, INPP5E
5excretionGO:00075889.7CLCNKB, CLCNKA, CLCN5
6steroid metabolic processGO:00082029.7LRP2, CUBN
7regulation of anion transportGO:00440709.5CLCNKB, CLCN4, CLCNKA
8phosphatidylinositol biosynthetic processGO:00066619.4INPP5E, OCRL
9transportGO:00068109.2CLCN5, CLCNKA, CLCNKB, CLCN4
10ion transmembrane transportGO:00342208.7CLCNKA, CLCNKB, CLCN4, CLCN5, TRPV6
11transmembrane transportGO:00550858.7TRPV6, CLCNKB, CLCN4, CLCNKA, CLCN5

Molecular functions related to Dent Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:00052549.7CLCN5, CLCN4
2phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:00044399.7OCRL, INPP5E
3antiporter activityGO:00152979.6CLCN5, CLCN4
4adenyl nucleotide bindingGO:00305549.4CLCNKB, CLCNKA
5voltage-gated chloride channel activityGO:00052479.1CLCNKB, CLCN4, CLCNKA, CLCN5

Products for genes affiliated with Dent Disease

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Sources for Dent Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet