MCID: DNT039
MIFTS: 64

Dent's Disease malady

Nephrological diseases category

Summaries for Dent's Disease

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21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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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: Dent's Disease, also known as dent disease, is related to proteinuria and x-linked hypophosphatemia. An important gene associated with Dent's Disease is CLCN5 (chloride channel, voltage-sensitive 5), and among its related pathways are Vitamin D2 (ergocalciferol) metabolism and Cation-coupled Chloride cotransporters. The compounds 3-phenyl-cpp and Quinethazone have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related mouse phenotypes are skeleton and no phenotypic analysis.

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

GeneReviews summary for dent

Aliases & Classifications for Dent's Disease

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Sources:
63Wikipedia, 21Genetics Home Reference, 60UMLS, 19GeneReviews, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological 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


Aliases & Descriptions:

dent's disease 63 21 60
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 60
x-linked recessive nephrolithiasis 48
nephrolithiasis type 1 48
genetic hypercalciuria 63
dent disease type 1 48
dents disease 21
dent syndrome 48


External Ids:

UMLS via Orphanet61 C1839874, C0878681, C1848336
MESH via Orphanet35 C545036, D057973, C538212
ICD10 via Orphanet26 N25.8
SNOMED-CT via Orphanet57 444645005, 236713006

Related Diseases for Dent's Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Dent's Disease family:

Dent Disease 1 Dent Disease 2

Diseases related to Dent's Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1proteinuria30.3CLCN5, LRP2, CUBN, REN
2x-linked hypophosphatemia30.2CLCN5
3nephrolithiasis30.2CLDN16, CLCNKB, CLCN5
4fanconi syndrome30.0OCRL, CLCN5, INPP5E, LRP2, CUBN
5nephrocalcinosis30.0OCRL, SLC12A1, CLCN5, CLDN16, CLCNKB, LRP2
6dent disease 210.4
7dent disease 110.4
8x-linked disease10.2
9nephrolithiasis, type i10.2
10proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis10.2
11focal glomerulosclerosis10.0
12cataract10.0
13intestinal disease10.0
14kidney disease10.0
15cystinosis10.0LRP2
16hypophosphatemia10.0CLCN5
17rickets10.0CLCN5
18aminoaciduria10.0CLCN5
19myotonic dystrophy10.0CLCN1
20osteopetrosis10.0CLCN7
21oculocerebrorenal syndrome10.0INPP5E, OCRL, CLCN5
22polyhydramnios10.0SLC12A1, CLCNKB
23fallopian tube cancer10.0CLCN5, SLC12A3
24nephrogenic diabetes insipidus10.0SLC12A1, CLCNKA
25hypokalemic periodic paralysis10.0CLCN1
26pseudohypoaldosteronism10.0REN, SLC12A3
27cystic fibrosis10.0CLCN5, CLCN4
28primary hyperoxaluria10.0SLC12A3, REN
29pseudohypoaldosteronism type ii10.0SLC12A3, REN
30hyperaldosteronism10.0CLCNKB, SLC12A3, REN
31growth hormone deficiency10.0GH1
32bartter syndrome, type 210.0SLC12A1, REN
33metabolic acidosis10.0SLC12A1, REN
34bartter syndrome type 310.0SLC12A3, REN, CLCNKB, SLC12A1
35gitelman syndrome10.0CLCNKB, SLC12A1, SLC12A3, REN
36hypokalemia10.0SLC12A3, SLC12A1, CLCNKB, REN
37bartter disease10.0SLC12A3, SLC12A1, CLCNKB, CLCN5, REN

Graphical network of the top 20 diseases related to Dent's Disease:



Diseases related to dent's disease

Clinical Features for Dent's Disease

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Sources:
46OMIM
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Clinical features from OMIM:

300009,300554,300555,308990,310468

Clinical synopsis from OMIM:

300009

Drugs & Therapeutics for Dent's Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Dent's Disease

Drug clinical trials:

Search ClinicalTrials for Dent's Disease

Search NIH Clinical Center for Dent's Disease

Search CenterWatch for Dent's Disease

Genetic Tests for Dent's Disease

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20GeneTests, 22GTR
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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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32MalaCards
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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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Sources:
36MGI
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MGI Mouse Phenotypes related to Dent's Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5TRPV6, CLCN7, CLCN1, CLCN5, INPP5E, LRP2
2MP:00030128.2TRPV6, CLCN1, CLCN5, INPP5E, LRP2, CFL1
3MP:00053918.2OCRL, CLCN7, CLCN1, INPP5E, LRP2, CFL1
4MP:00053898.1GH1, OCRL, TRPV6, REN, CLCN1, LRP2
5MP:00053867.3REN, CLCN7, CLCN1, LRP2, CFL1, SLC12A1
6MP:00107686.8OCRL, REN, CLCN7, CLCN1, INPP5E, DAB2
7MP:00053785.5CLCN1, CLCN7, REN, TRPV6, OCRL, GH1
8MP:00053675.5TMEM27, OCRL, TRPV6, REN, CLDN16, CLCNKA
9MP:00053765.3CLCN4, CLCNKA, CLDN16, REN, TRPV6, OCRL

Publications for Dent's Disease

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Sources:
50PubMed
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Articles related to Dent's Disease:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Dent's disease complicated by an acute Budd-Chiari syndrome. (24398869)
2014
2
Conformational defects underlie proteasomal degradation of Dent's disease-causing mutants of ClC-5. (23566014)
2013
3
Vitamin A deficiency associated with urinary retinol binding protein wasting in Dent's disease. (22350370)
2012
4
Molecular effect of a novel missense mutation, L266V, on function of ClC-5 protein in a Japanese patient with Dent's disease. (23211344)
2012
5
The CLC-5 2Cl(-)/H(+) exchange transporter in endosomal function and Dent's disease. (23226131)
2012
6
Dent's disease: clinical features and molecular basis. (20936522)
2011
7
Dent's disease. (20946626)
2010
8
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease. (19940036)
2010
9
Dent's disease and Lowe's syndrome: a phenotypic spectrum of one gene. (20061714)
2010
10
Vitamin A responsive night blindness in Dent's disease. (19444483)
2009
11
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. (19019917)
2009
12
Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. (19582483)
2009
13
Hypophosphatemic rickets due to Dent's disease: A case report and review of literature. (20535254)
2009
14
Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease. (19546586)
2009
15
From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]. (18019214)
2007
16
Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease. (18025833)
2007
17
Phenotypic and genetic heterogeneity in Dent's disease -- the results of an Italian collaborative study. (16822791)
2006
18
Citrate therapy in Dent's disease. (16688197)
2006
19
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
20
Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease. (16861240)
2006
21
Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice. (15637424)
2005
22
Phenotype and genotype of Dent's disease in three Korean boys. (15719255)
2005
23
Dent's disease. (16030051)
2005
24
CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease. (15814539)
2005
25
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. (15895257)
2005
26
Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state. (15125028)
2004
27
Coexpression of complementary fragments of ClC-5 and restoration of chloride channel function in a Dent's disease mutation. (13679301)
2004
28
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
29
The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover. (12674322)
2003
30
Dent's disease: hereditary nephrolithiasis related to defective tubular endocytosis processes]. (14732909)
2003
31
Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease. (12637640)
2003
32
De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease. (14569459)
2003
33
Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients. (12631345)
2003
34
The ClC-5 chloride channel knock-out mouse - an animal model for Dent's disease. (12548389)
2003
35
Urinary stone formation: Dent's disease moves understanding forward. (12053119)
2002
36
Responsiveness of hypercalciuria to thiazide in Dent's disease. (12444212)
2002
37
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
38
An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease. (11116157)
2001
39
Dent's disease: can we slow its progression? (11427657)
2001
40
Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome. (11014932)
2000
41
Characterization of renal chloride channel (CLCN5) mutations in Dent's disease. (10906159)
2000
42
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
43
Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases. (10620205)
2000
44
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. (10720930)
2000
45
Renal chloride channel, CLCN5, mutations in Dent's disease. (10469281)
1999
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

Genetic Variations for Dent's Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Dent's 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

Expression for genes affiliated with Dent's Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dent's Disease

Search GEO for disease gene expression data for Dent's Disease.

Pathways for genes affiliated with Dent's Disease

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Sources:
53Reactome, 49PharmGKB, 51QIAGEN
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Compounds for genes affiliated with Dent's Disease

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Sources:
28IUPHAR, 11DrugBank, 44Novoseek, 59Tocris Bioscience, 49PharmGKB, 24HMDB
See all sources

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

(show all 25)
idCompoundScoreTop Affiliating Genes
13-phenyl-cpp2810.4CLCNKA, CLCNKB
2Quinethazone1110.1SLC12A1, SLC12A3
3nppb44 59 2812.1CLCN7, CLCN5
4dids44 2811.1CLCNKA, CLCN7, CLCNKB
5bendroflumethiazide44 1111.1SLC12A3, REN
6niflumic acid44 28 1112.1CLCNKA, CLCN1, CLCNKB
7hydrochlorothiazide44 49 28 11 2413.9SLC12A3, CLDN16, REN
8thiazide449.8SLC12A3, SLC12A1, REN
9potassium chloride44 1110.8SLC12A1, REN
10furosemide44 49 59 28 11 2414.8SLC12A3, SLC12A1, REN
11bumetanide44 59 28 1112.8SLC12A1, SLC12A3
12zn2+289.8CLCN4, CLCN1
13cobalamin44 2410.8CUBN, LRP2
14metoclopramide44 1110.8REN, GH1
15cd2+289.5TRPV6, CLCN4, CLCN1
16magnesium44 11 2411.5SLC12A1, LRP2, CLCNKB, CLCNKA, CLDN16
17nacl449.5REN, CLCNKA, CLCNKB, SLC12A1, SLC12A3
18potassium44 11 2411.4REN, CLCNKA, CLCNKB, SLC12A1, SLC12A3
19vitamin d449.4GH1, TRPV6, LRP2, CUBN
20calcitriol44 59 11 2412.2GH1, TRPV6, REN, LRP2, CUBN
21sodium44 2410.0REN, CLCNKA, CLCN1, CLCNKB, LRP2, SLC12A1
22steroid449.0GH1, TRPV6, REN, LRP2, CUBN
23chlorine44 249.6CLCNKA, CLCN7, CLCN4, CLCN1, CLCN5, CLCNKB
24chloride448.1SLC12A3, OCRL, REN, CLCNKA, CLCN7, CLCN4
25calcium44 49 11 2410.3TRPV6, REN, CLDN16, CLCNKA, CLCN5, CLCNKB

GO Terms for genes affiliated with Dent's Disease

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16Gene Ontology
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Cellular components related to Dent's Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1coated pitGO:0059059.7CUBN, LRP2, DAB2, OCRL
2chloride channel complexGO:0347079.7CLCNKA, CLCN1, CLCNKB
3lysosomal membraneGO:0057659.4CLCN7, CLCN5, DAB2, LRP2, CUBN
4apical plasma membraneGO:0163249.2DAB2, LRP2, CUBN, SLC12A3
5integral to plasma membraneGO:0058878.8SLC12A3, CLCNKB, CLCN5, CLCN1, CLCNKA, TRPV6
6plasma membraneGO:0058867.7OCRL, REN, CLDN16, CLCNKA, CLCN1, CLCNKB

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol dephosphorylationGO:04685610.1INPP5E, OCRL
2vitamin D metabolic processGO:0423599.8CUBN, LRP2
3receptor-mediated endocytosisGO:0068989.7DAB2, LRP2, CUBN
4excretionGO:0075889.5CLDN16, CLCNKA, CLCN5, CLCNKB, DAB2
5ion transmembrane transportGO:0342208.7SLC12A1, CLCNKA, CLCN7, CLCN4, CLCN1, CLCN5
6transportGO:0068108.4CLCNKA, CLCN7, CLCN4, CLCN1, CLCN5, CLCNKB
7transmembrane transportGO:0550858.3CLCNKA, CLCN7, CLCN4, CLCN1, CLCN5, CLCNKB

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-4,5-bisphosphate 5-phosphatase activityGO:00443910.1INPP5E, OCRL
2adenyl nucleotide bindingGO:0305549.7CLCNKB, CLCN1, CLCNKA
3chloride channel activityGO:0052549.3CLCN7, CLCN4, CLCN1, CLCN5
4antiporter activityGO:0152979.3CLCN7, CLCN4, CLCN5
5voltage-gated chloride channel activityGO:0052478.9CLCNKB, CLCN5, CLCN1, CLCN4, CLCN7, CLCNKA

Products for genes affiliated with Dent's Disease

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  • Antibodies
  • Proteins
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Sources for Dent's Disease

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet