MCID: DNT015
MIFTS: 61

Dent Disease

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Dent Disease

MalaCards integrated aliases for Dent Disease:

Name: Dent Disease 54 12 23 50 24 25 56 13 52 42 14
Dent Disease 1 12 24 71 29 42 69
Dent's Disease 12 72 50 25 29 69
Dent Disease 2 12 42 69
Low-Molecular-Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 50 56
Renal Fanconi Syndrome with Nephrocalcinosis and Renal Stones 50 56
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets 50 56
X-Linked Recessive Nephrolithiasis 50 56
Dent Syndrome 50 56
Dents Disease 50 25
Nephrolithiasis-Hypercalciuria X-Linked Recessive 71
X-Linked Hypercalciuric Nephrolithiasis 24
X-Linked Hypercalciuric Urolithiasis 24
Clcn5-Related Dent Disease 24
Genetic Hypercalciuria 72
Nephrolithiasis Type 1 56
Dent Disease Type 1 56
Nephrolithiasis 2 71
Nphl2 71

Characteristics:

Orphanet epidemiological data:

56
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;

OMIM:

54
Miscellaneous:
variable phenotypic severity
female carriers may have asymptomatic proteinuria, hypercalciuria, or hypophosphatemia only
part of 'dent disease complex'
see also x-linked nephrocalcinosis , x-linked recessive hypophosphatemic rickets , and low-molecular-weight proteinuria with nephrocalcinosis
see also dent disease 2

Inheritance:
x-linked recessive


HPO:

32
dent disease:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare renal diseases


Summaries for Dent Disease

NIH Rare Diseases : 50 dent disease is a chronic kidney disease that primarily affects males. while symptoms and severity vary, they usually begin in childhood and worsen over time. the most common feature of dent disease is proteinuria (protein in the urine). other common features include excess calcium in the urine (hypercalciuria); calcium deposits in the kidneys (nephrocalcinosis); and kidney stones. less common features include rickets and mildy short stature. progressive kidney problems often lead to kidney failure by early to mid-adulthood. there are two forms of dent disease which are distinguished based on their genetic causes. both forms are inherited in an x-linked recessive manner.dent disease type 1 is caused by a mutation in the clcn5 gene. dent disease type 2 is caused by a mutation in the ocrl gene. males with this form are also at increased risk for mild intellectual disability and hypotonia. treatment is based on the symptoms present, aiming to delay progression of kidney disease and improve quality of life. last updated: 9/20/2016

MalaCards based summary : Dent Disease, also known as dent disease 1, is related to hypophosphatemic rickets and dent disease 2, and has symptoms including nephrolithiasis, nephrocalcinosis and hypercalciuria. An important gene associated with Dent Disease is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Amoxicillin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes, and related phenotypes are homeostasis/metabolism and renal/urinary system

UniProtKB/Swiss-Prot : 71 Nephrolithiasis 2: An X-linked recessive 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. Nephrolithiasis type 2 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia.

Genetics Home Reference : 25 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.

OMIM : 54
The term 'X-linked hypercalciuric nephrolithiasis' comprises several related forms of hereditary renal tubular disorders caused by mutations in the CLCN5 gene, including Dent disease, X-linked recessive nephrolithiasis (310468), X-linked recessive hypophosphatemic rickets (300554), and low molecular weight proteinuria (308990). Although these disorders are allelic and are all characterized by progressive proximal renal tubulopathy with hypercalciuria, low molecular weight proteinuria, and nephrocalcinosis, they vary in degree of severity and were originally reported as separate disorders. Some have considered these disorders as phenotypic variants of a single disease, referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). Scheinman et al. (1999) provided a comprehensive review of genetic disorders of renal electrolyte transport. (300009)

Disease Ontology : 12 A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has material basis in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene.

GeneReviews: NBK99494

Related Diseases for Dent Disease

Diseases in the Dent Disease family:

Dent Disease 2

Diseases related to Dent Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
id Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets 24.7 BGLAP CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA
2 dent disease 2 12.4
3 nephrolithiasis, type i 11.0
4 proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis 11.0
5 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.8
6 hypogonadotropic hypogonadism 10.5 CUBN LRP2
7 bartter syndrome, type 4b, digenic 10.5 CLCNKA CLCNKB
8 deafness, autosomal recessive 96 10.5 CLCNKA CLCNKB
9 bartter syndrome, type 4a 10.5 CLCNKA CLCNKB
10 deafness, autosomal recessive 36 10.4 CLCNKA CLCNKB
11 hypercalciuria, absorptive 10.3 CLCN5 CLDN16
12 acute inferoposterior infarction 10.3 CUBN LRP2
13 amniotic band syndrome 10.3 CLCN5 OCRL
14 familial mediterranean fever, ar 10.2 BGLAP CLCN7
15 microphthalmia 10.2 CLCN5 CUBN LRP2 OCRL
16 aromatase excess syndrome 10.1 BGLAP LRP2
17 silver-russell syndrome due to 11p15 microduplication 10.1 BGLAP CLCN5
18 neutropenia 10.1 CLCN5 CLCNKB CLDN16
19 prediabetes syndrome 10.0 BGLAP SLC12A1
20 lowe syndrome 10.0
21 nephrolithiasis 9.9
22 night blindness 9.8 CLCNKB SLC12A1
23 bartter syndrome, type 3 9.8 CLCNKB SLC12A1 SLC12A3
24 spondyloepimetaphyseal dysplasia, faden-alkuraya type 9.8 CLCNKB SLC12A1 SLC12A3
25 pediatric angiosarcoma 9.8 CLCNKB SLC12A1 SLC12A3
26 mixed receptive-expressive language disorder 9.7 CLCN5 CLCNKB CLDN16 SLC12A1
27 fanconi syndrome 9.7
28 nephrocalcinosis 9.7
29 kidney disease 9.7
30 cataract 9.7
31 mental retardation, x-linked syndromic, raymond type 9.6 CLCN5 INPP5E LRP2 OCRL
32 astrakhan spotted fever 9.3 BGLAP CLCN5 CLDN16 SLC12A3
33 bestrophinopathy 9.3 CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A3
34 rhinitis 9.0 CLCN5 CLCNKA CLCNKB OCRL SLC12A1 SLC12A3

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



Diseases related to Dent Disease

Symptoms & Phenotypes for Dent Disease

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Laboratory- Abnormalities:
hypercalciuria
aminoaciduria
hyperphosphaturia
microscopic hematuria
hypophosphatemia
more
Skeletal:
bone pain
osteomalacia
increased fractures
sparse bone trabeculae
thin bony cortex
more
Genitourinary- Kidneys:
nephrolithiasis
nephrocalcinosis
proximal renal tubule defect
decreased renal tubular phosphate reabsorption
renal insufficiency, progressive
more
Growth- Other:
poor growth

Skeletal- Limbs:
delayed opacification of the epiphyses
widened, distorted epiphyses
'bulging' epiphyses
frayed, irregular metaphyses
lower limb deformities
more

Clinical features from OMIM:

300009

Human phenotypes related to Dent Disease:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000787
2 nephrocalcinosis 56 32 frequent (33%) Frequent (79-30%) HP:0000121
3 hypercalciuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0002150
4 hematuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0000790
5 aminoaciduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003355
6 hyperphosphaturia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003109
7 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
8 intellectual disability, mild 56 32 occasional (7.5%) Occasional (29-5%) HP:0001256
9 recurrent fractures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002757
10 bone pain 56 32 frequent (33%) Frequent (79-30%) HP:0002653
11 tubulointerstitial fibrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005576
12 tubular atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000092
13 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
14 focal segmental glomerulosclerosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000097
15 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
16 chronic kidney disease 56 32 hallmark (90%) Very frequent (99-80%) HP:0012622
17 osteomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002749
18 rickets 56 32 occasional (7.5%) Occasional (29-5%) HP:0002748
19 glycosuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003076
20 renal phosphate wasting 56 32 hallmark (90%) Very frequent (99-80%) HP:0000117
21 sparse bone trabeculae 56 32 occasional (7.5%) Occasional (29-5%) HP:0002752
22 thin bony cortex 56 32 occasional (7.5%) Occasional (29-5%) HP:0002753
23 bowing of the legs 56 32 occasional (7.5%) Occasional (29-5%) HP:0002979
24 enlargement of the wrists 56 32 occasional (7.5%) Occasional (29-5%) HP:0003020
25 enlargement of the ankles 56 32 occasional (7.5%) Occasional (29-5%) HP:0003029
26 increased serum 1,25-dihydroxyvitamin d3 56 32 hallmark (90%) Very frequent (99-80%) HP:0003152
27 metaphyseal irregularity 56 32 occasional (7.5%) Occasional (29-5%) HP:0003025
28 proximal tubulopathy 56 32 Very frequent (99-80%) HP:0000114
29 mild global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0011342
30 delayed epiphyseal ossification 56 32 occasional (7.5%) Occasional (29-5%) HP:0002663
31 low-molecular-weight proteinuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003126
32 hyperuricosuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0003149
33 elevated serum creatine phosphokinase 56 32 frequent (33%) Frequent (79-30%) HP:0003236
34 bulging epiphyses 56 32 occasional (7.5%) Occasional (29-5%) HP:0003013
35 non-acidotic proximal tubulopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0005574
36 renal hypophosphatemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008732
37 short stature 32 HP:0004322
38 proteinuria 56 Very frequent (99-80%)
39 femoral bowing 32 HP:0002980
40 tibial bowing 32 HP:0002982
41 renal insufficiency 56 Very frequent (99-80%)
42 microscopic hematuria 32 HP:0002907
43 hypophosphatemia 32 HP:0002148
44 abnormality of the lower limb 56 Occasional (29-5%)
45 enlarged epiphyses 56 Occasional (29-5%)
46 fibular bowing 32 HP:0010502

UMLS symptoms related to Dent Disease:


bone pain

MGI Mouse Phenotypes related to Dent Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKB CLDN16
2 renal/urinary system MP:0005367 9.36 CLCN4 CLCN5 CLCN7 CLCNKB CLDN16 CUBN

Drugs & Therapeutics for Dent Disease

Drugs for Dent Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 111)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613 2171
2
Metronidazole Approved Phase 4,Early Phase 1 443-48-1 4173
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
5 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Neurotransmitter Agents Phase 4,Phase 3,Early Phase 1
7 Peripheral Nervous System Agents Phase 4,Early Phase 1
8 Anti-Bacterial Agents Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Antiparasitic Agents Phase 4
11 Antiprotozoal Agents Phase 4
12 Adrenergic Agents Phase 4
13 Autonomic Agents Phase 4,Early Phase 1
14 Central Nervous System Stimulants Phase 4
15 Dopamine Agents Phase 4
16 Dopamine Uptake Inhibitors Phase 4
17 Neurotransmitter Uptake Inhibitors Phase 4
18
Triclosan Approved Phase 3 3380-34-5 5564
19
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
20
Rabeprazole Approved, Investigational Phase 3 117976-89-3 5029
21
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
22
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
23
1-Deoxynojirimycin Experimental Phase 3 19130-96-2 1374
24 Anti-Infective Agents, Local Phase 3
25 Antimetabolites Phase 3
26 Cariostatic Agents Phase 3
27 Fluorides Phase 3
28 Hypolipidemic Agents Phase 3
29 Lipid Regulating Agents Phase 3
30 Protective Agents Phase 3,Early Phase 1
31 Anticonvulsants Phase 3
32 calcium channel blockers Phase 3
33 Calcium, Dietary Phase 3,Phase 1,Phase 2
34 Diuretics, Potassium Sparing Phase 3
35 Excitatory Amino Acid Antagonists Phase 3
36 Excitatory Amino Acids Phase 3
37 Sodium Channel Blockers Phase 3
38 Antacids Phase 3,Phase 2
39 Anti-Ulcer Agents Phase 3,Phase 2
40 Gastrointestinal Agents Phase 3,Phase 2,Early Phase 1
41
Proton pump inhibitors Phase 3,Phase 2
42 Antimanic Agents Phase 3
43 Central Nervous System Depressants Phase 3,Early Phase 1
44 GABA Agents Phase 3
45 Psychotropic Drugs Phase 3
46 Tranquilizing Agents Phase 3
47 Antiviral Agents Phase 3,Phase 1,Phase 2
48 Antihypertensive Agents Phase 2, Phase 3
49 diuretics Phase 2, Phase 3
50 Natriuretic Agents Phase 2, Phase 3

Interventional clinical trials:

(show all 44)

id Name Status NCT ID Phase Drugs
1 Adjunctive Antimicrobial Therapy of Periodontitis: Long-Term Effects on Disease Progression and Oral Microbiological Colonization Completed NCT00707369 Phase 4 Amoxicillin and Metronidazole;Placebo
2 Antimicrobial Therapy as Adjunct to Periodontal Treatment: Effect of Timing Completed NCT02197260 Phase 4 3/d 500 mg metronidazole plus 375 mg amoxicillin for 7 days
3 Prefabricated Endodontic Posts: Glass Fiber Versus Titanium - A Randomized Controlled Pilot- Trial Completed NCT01520766 Phase 4
4 Periodontal Disease and Cardiovascular Disease Unknown status NCT00763165 Phase 3 Triclosan;Fluoride;Fluoride
5 Study of Lamotrigine to Treat Ménière's Disease Completed NCT02158585 Phase 3 Lamotrigine;Placebo
6 A Study of the Safety and Effectiveness of Rabeprazole for the Treatment of Gastroesophageal Reflux Disease (GERD) in Pediatric Patients Completed NCT00787891 Phase 3 rabeprazole;rabeprazole
7 DHA (Docosahexaenoic Acid), an Omega 3 Fatty Acid, in Slowing the Progression of Alzheimer's Disease Completed NCT00440050 Phase 3 DHA (Docosahexaenoic Acid);Placebo
8 Valproate in Dementia (VALID) Completed NCT00071721 Phase 3 Valproate;Placebo
9 Bapineuzumab in Patients With Mild to Moderate Alzheimer's Disease (ApoE4 Non-Carrier) Completed NCT00574132 Phase 3 Bapineuzumab 0.5 mg/kg;Placebo Control;Bapineuzumab 1.0 m/kg
10 Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease Active, not recruiting NCT02194985 Phase 3 migalastat HCl 150 mg
11 Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
12 Progress of Mild Alzheimer's Disease in Participants on Solanezumab Versus Placebo Terminated NCT01900665 Phase 3 Solanezumab;Placebo
13 A Two-Arm Study Evaluation H.P. Acthar Injection Gel in Treatment of Chronic Migraines Unknown status NCT01813591 Phase 2 H.P. Acthar Gel
14 Use of Electromyography With Bio-Feedback for the Treatment of Craniomandibular Disorders Completed NCT01949064 Phase 2
15 A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease Completed NCT00283933 Phase 2 AT1001 (migalastat hydrochloride)
16 Efficacy and Safety of T-817MA in Patients With Mild to Moderate Alzheimer's Disease (US202) Completed NCT02079909 Phase 2 T-817MA-H;T-817MA-L;Placebo
17 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
18 Safety and Tolerability of PF-06649751 in Parkinson's Disease Patients With Motor Fluctuations Recruiting NCT03185481 Phase 2 1 mg QD to 15 mg QD PF-06649751;3 mg QD to 15 mg QD PF-06649751;7 mg QD to 15 mg QD PF-06649751;15 mg QD PF-06649751;1 mg QD to 7 mg QD PF-06649751 (if de-escalated in parent study);3 mg QD to 7 mg QD PF-06649751 (de-escalated in parent study);7 mg QD to 7 mg QD PF-06649751 (de-escalated in parent study);15 mg QD de-escalated to 7 mg QD PF-06649751 in parent study remain at 7 mg QD
19 Efficacy, Safety and Tolerability of PF-06649751 in Parkinson's Disease Patients With Motor Fluctuations Active, not recruiting NCT02687542 Phase 2 Placebo;PF-06649751 low dose (1 mg QD);PF-06649751 middle dose 1 (3 mg QD);PF-06649751 middle dose 2 (7 mg QD);PF-06649751 high dose (15 mg QD)
20 The Efficacy of a VR Enhanced Video Exposure Therapy for Dental Phobia Not yet recruiting NCT03098134 Phase 2
21 A Phase 2 Study of Dexlansoprazole Delayed-Release Capsules to Treat Symptomatic Nonerosive Gastroesophageal Reflux Disease in Pediatric Subjects Aged 1 to 11 Years Suspended NCT02616302 Phase 2 Dexlansoprazole
22 A Study of the PK, Safety and Antiviral Activity of A-831 in HCV Carriers Terminated NCT00522808 Phase 1, Phase 2 A-831
23 Porphyromonas Gingivalis and Alzheimer`s Disease Unknown status NCT02109705
24 Efficacy of Sumatriptan With Naprosyn in Migraine With Aura Unknown status NCT00893594 sumatriptan with naprosyn;placebo
25 Review of Kidney Biopsies of Dent Disease Patients Completed NCT02022189
26 Mechanisms of Acupuncture Analgesia on Experimental Dental Pain - A Psychophysical Study (Phase1) Completed NCT02589418
27 Randomized Trial Assessing the Effectiveness of a Pharmacist-Delivered Program for Smoking Cessation Completed NCT00670904
28 Activated MMP-8 as Diagnostic Test for Periodontitis Completed NCT02280122
29 Cytokines in Papillon-Lefèvre Syndrome Completed NCT01116934
30 ADNI: Alzheimer's Disease Neuroimaging Initiative Completed NCT00106899
31 The Effect of 2-DeNT Oral Topical Powder on Minor Recurrent Aphthous Ulcer Completed NCT02142543 Early Phase 1 2-DeNT powder;Placebo Comparator
32 Alzheimer's Disease Neuroimaging Initiative Grand Opportunity Completed NCT01078636
33 Dent Disease Mutation Genotyping Recruiting NCT01783795
34 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
35 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
36 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
37 Health-related Quality of Life in Rare Kidney Stone Recruiting NCT02124395
38 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
39 Dental Prophylaxis and Rheumatoid Arthritis Recruiting NCT03087240
40 The Effect of Non-surgical Periodontal Treatment in the Renal Function of Patients With Chronic Kidney Disease: RCT Recruiting NCT01217281
41 Treatment Efficiency of Acupuncture in Non Chronified Pain Patients With TMDs Recruiting NCT02637544
42 The INSYTE (Management of Parkinson's Disease Psychosis in Actual Practice) Study Recruiting NCT03152292
43 Alzheimer's Disease Neuroimaging Initiative 3 (ADNI3) Protocol Recruiting NCT02854033
44 Dental Erosion in Patients With Gastro-oesophageal Reflux Enrolling by invitation NCT02775149

Search NIH Clinical Center for Dent Disease

Cochrane evidence based reviews: dent disease

Genetic Tests for Dent Disease

Genetic tests related to Dent Disease:

id Genetic test Affiliating Genes
1 Dent Disease 1 29 24 CLCN5
2 Dent's Disease 29
3 Dent Disease 24 OCRL

Anatomical Context for Dent Disease

MalaCards organs/tissues related to Dent Disease:

39
Kidney, Bone, Testes, Liver, Colon, Cortex, Bone Marrow

Publications for Dent Disease

Articles related to Dent Disease:

(show all 47)
id Title Authors Year
1
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. ( 28669993 )
2017
2
Diagnosis and treatment of Dent disease in 10 Chinese boys. ( 28357180 )
2017
3
Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China. ( 28580211 )
2017
4
Bone marrow transplantation improves proximal tubule dysfunction in a mouse model of Dent disease. ( 28143656 )
2017
5
Nanotubes, the fast track to treatment of Dent disease? ( 28314577 )
2017
6
Phenotypic variability of Dent disease in a large New Zealand kindred. ( 27699523 )
2017
7
Dent disease in Poland: what we have learned so far? ( 28815356 )
2017
8
Glomerular Pathology in Dent Disease and Its Association with Kidney Function. ( 27697782 )
2016
9
Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations. ( 27174143 )
2016
10
Phenotype of Dent Disease in a Cohort of Indian Children. ( 27889724 )
2016
11
Proteinuria in Dent disease: a review of the literature. ( 27757584 )
2016
12
Observations of a large Dent disease cohort. ( 27342959 )
2016
13
Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients. ( 27117801 )
2016
14
Does Dent disease remain an underrecognized cause for young boys with focal glomerulosclerosis? ( 27324082 )
2016
15
Mutation Update of the Clcn5 Gene Responsible for Dent Disease 1. ( 25907713 )
2015
16
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease. ( 25670966 )
2015
17
Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations. ( 26389017 )
2015
18
Dent disease in children: diagnostic and therapeutic considerations. ( 26308078 )
2015
19
Muscle involvement in Dent disease 2. ( 24912603 )
2014
20
A case of adult Dent disease in Japan with advanced chronic kidney disease. ( 28509186 )
2014
21
Expanding the phenotype of proteinuria in Dent disease. A case series. ( 24810952 )
2014
22
Clinical utility gene card for: Dent disease (Dent-1 and Dent-2). ( 24619144 )
2014
23
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients. ( 23572577 )
2013
24
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
25
A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5. ( 21932010 )
2012
26
Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease. ( 22378746 )
2012
27
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. ( 21183592 )
2011
28
Heterogeneity in the processing of CLCN5 mutants related to Dent disease. ( 21305656 )
2011
29
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. ( 21031565 )
2011
30
OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts. ( 21822997 )
2011
31
Hydrochlorothiazide-induced tubulointerstitial nephritis in a patient with Dent disease. ( 25984010 )
2009
32
Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1. ( 19673950 )
2009
33
Growth hormone improves growth rate and preserves renal function in Dent disease. ( 18540256 )
2008
34
Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial. ( 18976849 )
2008
35
Renal manifestations of Dent disease and Lowe syndrome. ( 18038239 )
2008
36
Dent disease presenting as partial Fanconi syndrome and hypercalciuria. ( 18235437 )
2008
37
Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis. ( 17702731 )
2007
38
OCRL1 mutations in patients with Dent disease phenotype in Japan. ( 17384968 )
2007
39
Novel OCRL1 mutations in patients with the phenotype of Dent disease. ( 17162149 )
2006
40
Dent disease with mutations in OCRL1. ( 15627218 )
2005
41
Examination of megalin in renal tubular epithelium from patients with Dent disease. ( 15052463 )
2004
42
A 3-year-old child with proteinuria and nephrocalcinosis. Suspicion of Dent disease. ( 15365802 )
2004
43
Dent disease-like phenotype and the chloride channel ClC-4 (CLCN4) gene. ( 15264294 )
2004
44
Megalin and proximal renal tubular dysfunction in Dent disease. ( 15338396 )
2004
45
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
46
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). ( 8575751 )
1995
47
Dent Disease ( 22876375 )
1993

Variations for Dent Disease

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

71 (show all 28)
id Symbol AA change Variation ID SNP ID
1 CLCN5 p.Gly57Val VAR_001616 rs151340629
2 CLCN5 p.Leu200Arg VAR_001617 rs151340622
3 CLCN5 p.Gly512Arg VAR_001621
4 CLCN5 p.Ser520Pro VAR_001622 rs151340623
5 CLCN5 p.Glu527Asp VAR_001623
6 CLCN5 p.Gly179Asp VAR_065591
7 CLCN5 p.Ser203Leu VAR_065592
8 CLCN5 p.Gly212Ala VAR_065593
9 CLCN5 p.Cys219Arg VAR_065594
10 CLCN5 p.Cys221Arg VAR_065595
11 CLCN5 p.Leu225Pro VAR_065596 rs273585645
12 CLCN5 p.Gly260Val VAR_065597 rs151340630
13 CLCN5 p.Glu267Ala VAR_065598
14 CLCN5 p.Ser270Gly VAR_065600
15 CLCN5 p.Ser270Arg VAR_065601
16 CLCN5 p.Tyr272Cys VAR_065602 rs273585644
17 CLCN5 p.Phe273Leu VAR_065603
18 CLCN5 p.Leu278Phe VAR_065604 rs273585648
19 CLCN5 p.Asn340Lys VAR_065605 rs273585646
20 CLCN5 p.Gly462Asp VAR_065606
21 CLCN5 p.Leu469Pro VAR_065607
22 CLCN5 p.Gly513Glu VAR_065608
23 CLCN5 p.Gly513Arg VAR_065609 rs273585647
24 CLCN5 p.Arg516Trp VAR_065610 rs797044812
25 CLCN5 p.Ser545Asn VAR_065612
26 CLCN5 p.Lys546Glu VAR_065613
27 CLCN5 p.Trp547Gly VAR_065614 rs273585650
28 CLCN5 p.Thr657Ser VAR_065615 rs144207967

ClinVar genetic disease variations for Dent Disease:

6 (show all 45)
id Gene Variation Type Significance SNP ID Assembly Location
1 OCRL NM_000276.3(OCRL): c.1436A> G (p.Tyr479Cys) single nucleotide variant Pathogenic rs137853262 GRCh37 Chromosome X, 128701310: 128701310
2 OCRL NM_000276.3(OCRL): c.952C> T (p.Arg318Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853263 GRCh37 Chromosome X, 128696373: 128696373
3 CLCN5 NM_001127899.3(CLCN5): c.1047G> A (p.Trp349Ter) single nucleotide variant Pathogenic rs151340620 GRCh37 Chromosome X, 49851017: 49851017
4 CLCN5 NM_000084.4(CLCN5): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs151340621 GRCh37 Chromosome X, 49855335: 49855335
5 CLCN5 NM_001127899.3(CLCN5): c.809T> G (p.Leu270Arg) single nucleotide variant Pathogenic rs151340622 GRCh37 Chromosome X, 49846380: 49846380
6 CLCN5 NM_001127899.3(CLCN5): c.1768T> C (p.Ser590Pro) single nucleotide variant Pathogenic rs151340623 GRCh37 Chromosome X, 49854796: 49854796
7 CLCN5 NM_001127899.3(CLCN5): c.2320C> T (p.Arg774Ter) single nucleotide variant Pathogenic rs151340624 GRCh37 Chromosome X, 49855503: 49855503
8 CLCN5 NM_001127899.3(CLCN5): c.1727G> A (p.Gly576Glu) single nucleotide variant Pathogenic rs151340625 GRCh37 Chromosome X, 49853524: 49853524
9 CLCN5 NM_000084.4(CLCN5): c.731C> T (p.Ser244Leu) single nucleotide variant Pathogenic/Likely pathogenic rs151340626 GRCh37 Chromosome X, 49850644: 49850644
10 CLCN5 NM_001127899.3(CLCN5): c.1238G> A (p.Trp413Ter) single nucleotide variant Pathogenic rs151340627 GRCh37 Chromosome X, 49851208: 49851208
11 CLCN5 CLCN5, 1-BP DEL, 2085C deletion Pathogenic
12 CLCN5 NM_001127899.3(CLCN5): c.1049G> C (p.Arg350Pro) single nucleotide variant Pathogenic rs151340628 GRCh37 Chromosome X, 49851019: 49851019
13 CLCN5 NM_001127899.3(CLCN5): c.380G> T (p.Gly127Val) single nucleotide variant Pathogenic rs151340629 GRCh37 Chromosome X, 49837208: 49837208
14 CLCN5 CLCN5, ALU INS, EX11 insertion Pathogenic
15 CLCN5 NM_000084.4(CLCN5): c.779G> T (p.Gly260Val) single nucleotide variant Pathogenic rs151340630 GRCh37 Chromosome X, 49850692: 49850692
16 CLCN5 CLCN5, IVS8DS, G-T, +1 single nucleotide variant Pathogenic
17 OCRL OCRL, ARG476TRP single nucleotide variant Pathogenic
18 OCRL OCRL, ILE526THR single nucleotide variant Pathogenic
19 OCRL OCRL, 2-BP DEL, 166TT deletion Pathogenic
20 CLCN5 NM_000084.4(CLCN5): c.1020C> A (p.Asn340Lys) single nucleotide variant Pathogenic rs273585646 GRCh37 Chromosome X, 49851200: 49851200
21 CLCN5 NM_000084.4(CLCN5): c.1537G> A (p.Gly513Arg) single nucleotide variant Pathogenic rs273585647 GRCh37 Chromosome X, 49854775: 49854775
22 CLCN5 NM_000084.4(CLCN5): c.1637A> G (p.Lys546Arg) single nucleotide variant Pathogenic rs273585649 GRCh37 Chromosome X, 49854875: 49854875
23 CLCN5 NM_000084.4(CLCN5): c.1639T> G (p.Trp547Gly) single nucleotide variant Pathogenic rs273585650 GRCh37 Chromosome X, 49854877: 49854877
24 CLCN5 NM_000084.4(CLCN5): c.674T> C (p.Leu225Pro) single nucleotide variant Pathogenic rs273585645 GRCh37 Chromosome X, 49846455: 49846455
25 CLCN5 NM_000084.4(CLCN5): c.815A> G (p.Tyr272Cys) single nucleotide variant Pathogenic rs273585644 GRCh37 Chromosome X, 49850995: 49850995
26 CLCN5 NM_000084.4(CLCN5): c.834G> C (p.Leu278Phe) single nucleotide variant Pathogenic rs273585648 GRCh37 Chromosome X, 49851014: 49851014
27 OCRL NM_000276.3(OCRL): c.2563delG (p.Val855Serfs) deletion Pathogenic rs398123288 GRCh37 Chromosome X, 128723915: 128723915
28 OCRL NM_000276.3(OCRL): c.2582-1G> A single nucleotide variant Pathogenic rs398123289 GRCh37 Chromosome X, 128724122: 128724122
29 OCRL NM_000276.3(OCRL): c.909_910delAG (p.Gly304Phefs) deletion Pathogenic rs398123290 GRCh37 Chromosome X, 128695240: 128695241
30 OCRL NM_000276.3(OCRL): c.2299C> T (p.Gln767Ter) single nucleotide variant Pathogenic rs794727333 GRCh37 Chromosome X, 128722198: 128722198
31 CLCN5 NG_007159.3: g.(?_162979)_(164232_?)del deletion Pathogenic GRCh37 Chromosome X, 49845251: 49846504
32 CLCN5 NM_000084.4(CLCN5): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs797044808 GRCh38 Chromosome X, 50070025: 50070025
33 CLCN5 NM_000084.4(CLCN5): c.836G> A (p.Trp279Ter) single nucleotide variant Pathogenic rs797044809 GRCh38 Chromosome X, 50086359: 50086359
34 CLCN5 NM_000084.4(CLCN5): c.1039C> T (p.Arg347Ter) single nucleotide variant Pathogenic rs797044810 GRCh37 Chromosome X, 49851219: 49851219
35 CLCN5 NM_000084.4(CLCN5): c.1399C> T (p.Arg467Ter) single nucleotide variant Pathogenic rs797044811 GRCh38 Chromosome X, 50088749: 50088749
36 CLCN5 NM_000084.4(CLCN5): c.1546C> T (p.Arg516Trp) single nucleotide variant Likely pathogenic rs797044812 GRCh38 Chromosome X, 50090127: 50090127
37 CLCN5 NM_000084.4(CLCN5): c.1909C> T (p.Arg637Ter) single nucleotide variant Pathogenic rs797044813 GRCh38 Chromosome X, 50090490: 50090490
38 CLCN5 NM_000084.4(CLCN5): c.2152C> T (p.Arg718Ter) single nucleotide variant Pathogenic rs797044814 GRCh37 Chromosome X, 49856787: 49856787
39 CLCN5 NM_001127899.3(CLCN5): c.2393_2415del23 (p.Val798Glyfs) deletion Pathogenic rs797044815 GRCh38 Chromosome X, 50092161: 50092183
40 CLCN5 NC_000023.11: g.(?_49922616)_(50099235_?)del deletion Pathogenic GRCh38 Chromosome X, 49922616: 50099235
41 CLCN5 NC_000023.11: g.(?_49922616)_(50099235_?)del deletion Pathogenic GRCh38 Chromosome X, 49922616: 50099235
42 CLCN5 NC_000023.11: g.(?_49922616)_(50099235_?)del deletion Pathogenic GRCh38 Chromosome X, 49922616: 50099235
43 CLCN5 undetermined variant Pathogenic
44 OCRL NM_000276.3: c.2140_*2286del deletion Pathogenic
45 OCRL NG_008638.1: g.(5550_9683)_(13328_22050)del deletion Pathogenic

Expression for Dent Disease

Search GEO for disease gene expression data for Dent Disease.

Pathways for Dent Disease

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
2
Show member pathways
12.32 CLCN1 CLCN4 CLCN5 CLCN7 SLC12A1 SLC12A3
3
Show member pathways
12.13 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
4
Show member pathways
11.19 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
5 10.72 CLCNKA CLCNKB SLC12A1 SLC12A3

GO Terms for Dent Disease

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.97 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
2 integral component of plasma membrane GO:0005887 9.95 CLCN1 CLCN4 CLCN5 CLCNKA CLCNKB SLC12A3
3 Golgi apparatus GO:0005794 9.93 BGLAP CLCN5 CUBN INPP5E LRP2 OCRL
4 lysosomal membrane GO:0005765 9.73 CLCN5 CLCN7 CUBN LRP2
5 endosome GO:0005768 9.72 CLCN4 CLCN5 CUBN LRP2 OCRL
6 apical plasma membrane GO:0016324 9.71 CUBN LRP2 SLC12A1 SLC12A3
7 plasma membrane GO:0005886 9.7 CLCN1 CLCN5 CLCNKA CLCNKB CLDN16 CUBN
8 endosome membrane GO:0010008 9.69 CLCN4 CLCN5 CUBN
9 apical part of cell GO:0045177 9.54 CLCN5 CUBN LRP2
10 clathrin-coated pit GO:0005905 9.43 CUBN LRP2 OCRL
11 chloride channel complex GO:0034707 8.8 CLCN1 CLCNKA CLCNKB
12 integral component of membrane GO:0016021 10.19 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
2 ion transport GO:0006811 9.91 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
3 ion transmembrane transport GO:0034220 9.87 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
4 lipid metabolic process GO:0006629 9.83 CUBN INPP5E LRP2 OCRL
5 excretion GO:0007588 9.71 CLCN5 CLCNKA CLCNKB CLDN16
6 regulation of ion transmembrane transport GO:0034765 9.69 CLCN1 CLCNKA CLCNKB
7 regulation of anion transmembrane transport GO:1903959 9.63 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
8 chloride transmembrane transport GO:1902476 9.56 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
9 phosphatidylinositol dephosphorylation GO:0046856 9.49 INPP5E OCRL
10 lipoprotein transport GO:0042953 9.48 CUBN LRP2
11 vitamin D metabolic process GO:0042359 9.46 CUBN LRP2
12 chloride transport GO:0006821 9.23 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
13 transport GO:0006810 10.13 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.58 CLCN1 CLCNKA CLCNKB
2 antiporter activity GO:0015297 9.43 CLCN4 CLCN5 CLCN7
3 chloride channel activity GO:0005254 9.43 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
4 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.37 INPP5E OCRL
5 ion channel activity GO:0005216 9.33 CLCN4 CLCN5 CLCN7
6 cation:chloride symporter activity GO:0015377 9.32 SLC12A1 SLC12A3
7 voltage-gated chloride channel activity GO:0005247 9.1 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB

Sources for Dent Disease

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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