MCID: DNT039
MIFTS: 52

Dent's Disease malady

Nephrological category

Summaries for Dent's Disease

Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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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 x-linked hypophosphatemia and nephrolithiasis. 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 brain, kidney and bone marrow, and related mouse phenotypes are skeleton and no phenotypic analysis.

Description from OMIM:47 300009,300554,300555,308990,310468

GeneReviews summary for dent

Aliases & Classifications for Dent's Disease

Sources:
64Wikipedia, 21Genetics Home Reference, 61UMLS, 19GeneReviews, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 64 21 61
dent disease 19 20 22 21 47 45 49
low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis 49
renal fanconi syndrome with nephrocalcinosis and renal stones 49
x-linked recessive hypercalciuric hypophosphatemic rickets 49
x-linked recessive nephrolithiasis with renal failure 61
x-linked recessive nephrolithiasis 49
nephrolithiasis type 1 49
genetic hypercalciuria 64
dent disease type 1 49
dents disease 21
dent syndrome 49


External Ids:

UMLS via Orphanet62 C1839874, C0878681, C1848336
MESH via Orphanet36 C545036, D057973, C538212
ICD10 via Orphanet26 N25.8
SNOMED-CT via Orphanet58 444645005

Related Diseases for Dent's Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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 35)
idRelated DiseaseScoreTop Affiliating Genes
1x-linked hypophosphatemia30.3CLCN5
2nephrolithiasis30.2CLDN16, CLCNKB, CLCN5
3fanconi syndrome30.0OCRL, CLCN5, INPP5E, LRP2, CUBN
4nephrocalcinosis30.0OCRL, SLC12A1, CLCN5, CLDN16, CLCNKB, LRP2
5dent disease 210.5
6dent disease 110.4
7nephrolithiasis, type i10.2
8proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis10.2
9focal glomerulosclerosis10.0
10mental retardation10.0
11lip disease10.0
12cystinosis10.0LRP2
13hypophosphatemia10.0CLCN5
14rickets10.0CLCN5
15aminoaciduria10.0CLCN5
16myotonic dystrophy10.0CLCN1
17osteopetrosis10.0CLCN7
18oculocerebrorenal syndrome10.0INPP5E, OCRL, CLCN5
19polyhydramnios10.0SLC12A1, CLCNKB
20fallopian tube cancer10.0CLCN5, SLC12A3
21nephrogenic diabetes insipidus10.0SLC12A1, CLCNKA
22hypokalemic periodic paralysis10.0CLCN1
23pseudohypoaldosteronism10.0REN, SLC12A3
24cystic fibrosis10.0CLCN5, CLCN4
25primary hyperoxaluria10.0SLC12A3, REN
26pseudohypoaldosteronism type ii10.0SLC12A3, REN
27hyperaldosteronism10.0CLCNKB, SLC12A3, REN
28growth hormone deficiency10.0GH1
29bartter syndrome, type 210.0SLC12A1, REN
30proteinuria10.0CLCN5, LRP2, CUBN, REN
31metabolic acidosis10.0SLC12A1, REN
32bartter syndrome type 310.0SLC12A3, REN, CLCNKB, SLC12A1
33gitelman syndrome10.0CLCNKB, SLC12A1, SLC12A3, REN
34hypokalemia10.0SLC12A3, SLC12A1, CLCNKB, REN
35bartter 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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

300009,300554,300555,308990,310468

Clinical synopsis from OMIM:

300009

Drugs & Therapeutics for Dent's Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Dent's Disease:

33
Brain, Kidney, Bone marrow, Heart, Dentritic cells, T cells, B cells

Animal Models for Dent's Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Dent's Disease

Sources:
51PubMed
See all sources

Articles related to Dent's Disease:

(show top 50)    (show all 99)
idTitleAuthorsYear
1
Arresting rampant dental caries with silver diamine fluoride in a young teenager suffering from chronic oral graft versus host disease post-bone marrow transplantation: a case report. (24383434)
2014
2
Dental caries: Strategies to control this preventable disease. (24308392)
2013
3
Screening for coronary heart disease and diabetes risk in a dental setting. (24352582)
2013
4
What dentists should know about sickle cell disease. (24400417)
2013
5
Lower dental caries prevalence associated to chronic kidney disease: a systematic review. (23595424)
2013
6
Oral symptoms including dental erosion in gastroesophageal reflux disease are associated with decreased salivary flow volume and swallowing function. (22200941)
2012
7
Structure of factor H-binding protein B (FhbB) of the periopathogen, Treponema denticola: insights into progression of periodontal disease. (22371503)
2012
8
Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease. (22378746)
2012
9
Summary of: risk factors for variant Creutzfeldt-Jakob disease in dental practice: a case-control study. (23222331)
2012
10
Risk factors for variant Creutzfeldt-Jakob disease in dental practice: a case-control study. (23222357)
2012
11
High-fiber foods reduce periodontal disease progression in men aged 65 and older: the Veterans Affairs normative aging study/Dental Longitudinal Study. (22316111)
2012
12
Periodontal disease: could this be a further factor leading to subfertility and is there a case for a prepregnancy dental check-up? (22554169)
2012
13
Bioassay studies support the potential for iatrogenic transmission of variant Creutzfeldt Jakob Disease through dental procedures. (23226225)
2012
14
A case study of a dental receptionist diagnosed with Legionnaires' disease. (23198477)
2011
15
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. (21031565)
2011
16
Periodontal disease as a risk for dental implant failure over time: a long-term historical cohort study. (21635280)
2011
17
Focal segmental glomerulosclerosis in a boy with Dent-2 disease. (19902262)
2010
18
Dent's disease and Lowe's syndrome: a phenotypic spectrum of one gene. (20061714)
2010
19
Cat scratch disease: clinical considerations for the pediatric dentist. (19320261)
2009
20
Can dental pulp calcification serve as a diagnostic marker for carotid artery calcification in patients with renal diseases? (20026712)
2009
21
Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. (19019917)
2009
22
Dent disease presenting as partial Fanconi syndrome and hypercalciuria. (18235437)
2008
23
Dental findings in a child with glycogen storage disease type IA. (17508073)
2007
24
Lack of association between celiac disease and dental enamel hypoplasia in a case-control study from an Italian central region. (17537244)
2007
25
Meniere's disease may be caused by common intraosseous dental pathology--Diagnosis using the comparative compression sign. (16962722)
2007
26
Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy. (16247550)
2006
27
Chloride and sodium renal tubular handling in Dent's disease. (15912380)
2005
28
The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping. (16041495)
2005
29
Molecular and clinical studies of Dent's disease in Japan: biochemical examination and renal ultrasonography do not predict carrier state. (15125028)
2004
30
A 3-year-old child with proteinuria and nephrocalcinosis. Suspicion of Dent disease. (15365802)
2004
31
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
32
Dental structural diseases mapping to human chromosome 4q21. (12952210)
2003
33
De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease. (14569459)
2003
34
Vitamin D receptor alleles, periodontal disease progression, and tooth loss in the VA dental longitudinal study. (12666703)
2003
35
An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease. (11116157)
2001
36
A study of attached and oriented human periodontal ligament cells to periodontally diseased cementum and dentin after demineralizing with neutral and low pH etching solution. (10960015)
2000
37
Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. (10916075)
2000
38
Borna disease virus-induced hippocampal dentate gyrus damage is associated with spatial learning and memory deficits. (10210164)
1999
39
Dent's disease--the hypercalciuric variant of Fanconi's syndrome. (9748795)
1998
40
Somatic mosaicism of the expanded CAG trinucleotide repeat in mRNAs for the responsible gene of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinal and bulbar muscular atrophy (SBMA). (9482263)
1998
41
The treatment of periodontal diseases using Diplen-Denta films with chlorhexidine (a clinico-laboratory study)]. (9381488)
1997
42
Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1. (9124808)
1997
43
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian atrophy locus. (8684388)
1996
44
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. (8559378)
1996
45
Early diagnosis of multiple hamartoma and neoplasia syndrome (Cowden disease). The role of the dentist. (7621006)
1995
46
Differential diagnosis of early stage Huntington's disease from dentatorubral-pallidoluysian atrophy by DNA analysis. (24283646)
1995
47
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
48
An in vivo replica method for the site-specific detection of Candida albicans on the denture surface in denture stomatitis patients: correlation with clinical disease. (2184228)
1990
49
Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? (2387085)
1990
50
Studies in dentifrices. 3. The prevalence of gingival disease in children 12-14 years of age in relation to toothbrushing by means of different dentifrices. (5273241)
1970

Genetic Variations for Dent's Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Dent's Disease:

63 (show all 28)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 50PharmGKB, 52QIAGEN
See all sources

Compounds for genes affiliated with Dent's Disease

Sources:
29IUPHAR, 11DrugBank, 45Novoseek, 60Tocris Bioscience, 50PharmGKB, 24HMDB
See all sources

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

(show all 25)
idCompoundScoreTop Affiliating Genes
13-phenyl-cpp2910.4CLCNKA, CLCNKB
2Quinethazone1110.1SLC12A1, SLC12A3
3nppb45 60 2912.1CLCN7, CLCN5
4dids45 2911.1CLCNKA, CLCN7, CLCNKB
5bendroflumethiazide45 1111.1SLC12A3, REN
6niflumic acid45 29 1112.1CLCNKA, CLCN1, CLCNKB
7hydrochlorothiazide45 50 29 11 2413.9SLC12A3, CLDN16, REN
8thiazide459.8SLC12A3, SLC12A1, REN
9potassium chloride45 1110.8SLC12A1, REN
10furosemide45 50 60 29 11 2414.8SLC12A3, SLC12A1, REN
11bumetanide45 60 29 1112.8SLC12A1, SLC12A3
12zn2+299.8CLCN4, CLCN1
13cobalamin45 2410.8CUBN, LRP2
14metoclopramide45 1110.8REN, GH1
15cd2+299.5TRPV6, CLCN4, CLCN1
16magnesium45 11 2411.5SLC12A1, LRP2, CLCNKB, CLCNKA, CLDN16
17nacl459.5REN, CLCNKA, CLCNKB, SLC12A1, SLC12A3
18potassium45 11 2411.4REN, CLCNKA, CLCNKB, SLC12A1, SLC12A3
19vitamin d459.4GH1, TRPV6, LRP2, CUBN
20calcitriol45 60 11 2412.2GH1, TRPV6, REN, LRP2, CUBN
21sodium45 2410.0REN, CLCNKA, CLCN1, CLCNKB, LRP2, SLC12A1
22steroid459.0GH1, TRPV6, REN, LRP2, CUBN
23chlorine45 249.6CLCNKA, CLCN7, CLCN4, CLCN1, CLCN5, CLCNKB
24chloride458.1SLC12A3, OCRL, REN, CLCNKA, CLCN7, CLCN4
25calcium45 50 11 2410.3TRPV6, REN, CLDN16, CLCNKA, CLCN5, CLCNKB

GO Terms for genes affiliated with Dent's Disease

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dent's Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet