MCID: DNT039
MIFTS: 56

Dent's Disease malady

Genetic diseases, Nephrological diseases, Rare diseases categories
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Summaries for Dent's Disease

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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.

MalaCards based summary: Dent's Disease, also known as dent disease, is related to nephrolithiasis and proteinuria, and has symptoms including An important gene associated with Dent's 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 cobalamin and 25-hydroxyvitamin d have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related mouse phenotypes are homeostasis/metabolism and renal/urinary system.

Descriptions from OMIM:46 300009,300554,300555,308990,310468

GeneReviews summary for dent

Aliases & Classifications for Dent's Disease

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Sources:
65Wikipedia, 21Genetics Home Reference, 62UMLS, 19GeneReviews, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Dent's Disease, Aliases & Descriptions:

Name: Dent's Disease 65 21 62
Dent Disease 19 20 22 21 46 44 48
Low-Molecular-Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 48
Renal Fanconi Syndrome with Nephrocalcinosis and Renal Stones 48
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets 48
X-Linked Recessive Nephrolithiasis with Renal Failure 62
 
X-Linked Recessive Nephrolithiasis 48
Nephrolithiasis Type 1 48
Genetic Hypercalciuria 65
Dent Disease Type 1 48
Dents Disease 21
Dent Syndrome 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases
Orphanet: 48 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

48
dent disease:
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: Adult
nephrolithiasis type 1:
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: Adult


External Ids:

MESH via Orphanet35 C545036, D057973, C538212
ICD10 via Orphanet26 N25.8
UMLS via Orphanet63 C0878681, C1839874, C1848336

Related Diseases for Dent's Disease

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Graphical network of diseases related to Dent's Disease:



Diseases related to dent's disease

Symptoms for Dent's Disease

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Symptoms by clinical synopsis from OMIM:

300009

Clinical features from OMIM:

300009,300554,300555,308990,310468

HPO human phenotypes related to Dent's 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's Disease

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Drug clinical trials:

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Genetic Tests for Dent's Disease

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Genetic tests related to Dent's Disease:

id Genetic test Affiliating Genes
1 Dent Disease20 OCRL
2 Dent's Disease22

Anatomical Context for Dent's Disease

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MalaCards organs/tissues related to Dent's Disease:

32
Kidney, Bone

Animal Models for Dent's Disease or affiliated genes

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MGI Mouse Phenotypes related to Dent's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.2OCRL, CLCN5, CLCNKA, CLCN4, CUBN, LRP2
2MP:00053676.9CUBN, CLCN4, CLCNKA, CLCN5, OCRL, LRP2

Publications for Dent's Disease

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Articles related to Dent's Disease:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
A novel CLCN5 mutation in a Chinese boy with Dent's disease. (25124980)
2014
2
Dent's disease complicated by an acute Budd-Chiari syndrome. (24398869)
2014
3
Conformational defects underlie proteasomal degradation of Dent's disease-causing mutants of ClC-5. (23566014)
2013
4
An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes. (23047739)
2013
5
Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent's disease. (22350370)
2012
6
Molecular effect of a novel missense mutation, L266V, on function of ClC-5 protein in a Japanese patient with Dent's disease. (23211344)
2012
7
The CLC-5 2Cl(-)/H(+) exchange transporter in endosomal function and Dent's disease. (23226131)
2012
8
Decreased renal accumulation of aminoglycoside reflects defective receptor-mediated endocytosis in cystic fibrosis and Dent's disease. (21927812)
2011
9
Dent's disease: clinical features and molecular basis. (20936522)
2011
10
Dent's disease: chloride-proton exchange controls proximal tubule endocytosis. (20819956)
2010
11
Dent's disease. (20946626)
2010
12
Vitamin A responsive night blindness in Dent's disease. (19444483)
2009
13
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. (19546591)
2009
14
Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? (19806368)
2009
15
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. (19019917)
2009
16
Phenotype and genotype of Dent's disease in three Chinese boys. (19076289)
2009
17
Hypophosphatemic rickets due to Dent's disease: A case report and review of literature. (20535254)
2009
18
From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]. (18019214)
2007
19
Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease. (18025833)
2007
20
Family history may be misleading in the diagnosis of Dent's disease. (16416111)
2006
21
Phenotypic and genetic heterogeneity in Dent's disease -- the results of an Italian collaborative study. (16822791)
2006
22
Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy. (16247550)
2006
23
Citrate therapy in Dent's disease. (16688197)
2006
24
How Bartter's and Gitelman's syndromes, and Dent's disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5. (16352917)
2006
25
Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice. (15637424)
2005
26
Phenotype and genotype of Dent's disease in three Korean boys. (15719255)
2005
27
Dent's disease. (16030051)
2005
28
CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease. (15814539)
2005
29
Chloride and sodium renal tubular handling in Dent's disease. (15912380)
2005
30
The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping. (16041495)
2005
31
Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state. (15125028)
2004
32
Coexpression of complementary fragments of ClC-5 and restoration of chloride channel function in a Dent's disease mutation. (13679301)
2004
33
Dent's disease--a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. (15615094)
2004
34
Chloride channels and endocytosis: new insights from Dent's disease and CLC-5 knockout mice. (15615095)
2004
35
A boy with Japanese Dent's disease exhibiting abnormal calcium metabolism and osseous disorder of the spine: defective megalin expression at the brushborder of renal proximal tubules. (15524062)
2004
36
The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover. (12674322)
2003
37
Dent's disease: hereditary nephrolithiasis related to defective tubular endocytosis processes]. (14732909)
2003
38
Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease. (12637640)
2003
39
De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease. (14569459)
2003
40
Dent's disease. (11865109)
2002
41
Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease). (11136179)
2001
42
Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome. (11014932)
2000
43
ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. (11099045)
2000
44
Characterization of renal chloride channel (CLCN5) mutations in Dent's disease. (10906159)
2000
45
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. (11115837)
2000
46
Dent's disease--the hypercalciuric variant of Fanconi's syndrome. (9748795)
1998
47
ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. (9653142)
1998
48
Hypercalciuria and nephrocalcinosis in patients with idiopathic low-molecular-weight proteinuria in Japan: is the disease identical to Dent's disease in United Kingdom? (7753256)
1995
49
Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). (7874126)
1994
50
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. (8111383)
1993

Variations for Dent's Disease

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

64 (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's Disease:

6 (show all 23)
id Gene Name 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's Disease

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Expression patterns in normal tissues for genes affiliated with Dent's Disease

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Pathways for genes affiliated with Dent's Disease

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Pathways related to Dent's Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3CUBN, LRP2
29.2CLCNKB, CLCNKA
3
Show member pathways
8.3CLCNKB, CLCN4, CLCNKA, CLCN5
4
Show member pathways
8.3CLCN5, CLCNKA, CLCN4, CLCNKB
5
Show member pathways
8.3CLCN5, CLCNKA, CLCN4, CLCNKB
6
Show member pathways
8.3CLCN5, CLCNKA, CLCN4, CLCNKB

Compounds for genes affiliated with Dent's Disease

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Compounds related to Dent's Disease according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1cobalamin44 2410.5CUBN, LRP2
225-hydroxyvitamin d449.5CUBN, LRP2
33-phenyl-cpp289.5CLCNKA, CLCNKB
4niflumic acid44 28 1111.4CLCNKB, CLCNKA
5dids44 2810.4CLCNKB, CLCNKA
6vitamin b12449.4CUBN, LRP2
7folate449.2CUBN, LRP2
8nacl449.2CLCNKB, CLCNKA
9calcitriol44 61 24 1112.0CUBN, LRP2
10sodium44 249.8LRP2, CLCNKA, CLCNKB
11magnesium44 24 1110.7LRP2, CLCNKA, CLCNKB
12chlorine44 249.6CLCN5, CLCNKA, CLCN4, CLCNKB
13chloride448.2CLCNKB, CLCN4, CLCNKA, CLCN5, OCRL
14calcium44 50 24 1110.9LRP2, CLCN5, CLCNKA, CLCNKB, CUBN

GO Terms for genes affiliated with Dent's Disease

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Cellular components related to Dent's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1early endosome membraneGO:0319019.5CLCN4, OCRL
2brush border membraneGO:0315269.4CUBN, LRP2
3endocytic vesicleGO:0301399.3LRP2, CUBN
4endosome membraneGO:0100089.1CUBN, CLCN4, CLCN5
5coated pitGO:0059059.1CUBN, OCRL, LRP2
6chloride channel complexGO:0347079.1CLCNKB, CLCNKA
7lysosomal membraneGO:0057659.1LRP2, CLCN5, CUBN
8plasma membraneGO:0058867.3LRP2, OCRL, CLCNKA, CLCNKB, CUBN

Biological processes related to Dent's Disease according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transportGO:19024769.6CLCN4, CLCN5
2endocytosisGO:0068979.6CLCN5, LRP2
3vitamin D metabolic processGO:0423599.4CUBN, LRP2
4steroid metabolic processGO:0082029.3LRP2, CUBN
5lipid metabolic processGO:0066299.2OCRL, LRP2
6receptor-mediated endocytosisGO:0068989.2CUBN, LRP2
7excretionGO:0075889.0CLCN5, CLCNKA, CLCNKB
8regulation of anion transportGO:0440708.9CLCNKB, CLCN4, CLCNKA
9ion transmembrane transportGO:0342208.5CLCNKB, CLCN4, CLCNKA, CLCN5
10transportGO:0068108.5CLCNKB, CLCN4, CLCNKA, CLCN5
11transmembrane transportGO:0550858.4CLCN5, CLCNKA, CLCN4, CLCNKB

Molecular functions related to Dent's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel activityGO:0052549.6CLCN4, CLCN5
2antiporter activityGO:0152979.5CLCN5, CLCN4
3adenyl nucleotide bindingGO:0305548.9CLCNKB, CLCNKA
4voltage-gated chloride channel activityGO:0052478.3CLCNKB, CLCN4, CLCNKA, CLCN5

Products for genes affiliated with Dent's Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dent's Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet