NPHL2
MCID: DNT015
MIFTS: 61

Dent Disease (NPHL2) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases

Aliases & Classifications for Dent Disease

Aliases & Descriptions for Dent Disease:

Name: Dent Disease 54 12 23 50 24 25 56 13 52 42 14
Dent Disease 1 12 24 66 42 69
Dent's Disease 12 71 50 25 69
Dent Disease 2 12 42 69
Dents Disease 50 25 29
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 Disease Type 1 56 29
Dent Syndrome 50 56
Nephrolithiasis-Hypercalciuria X-Linked Recessive 66
X-Linked Hypercalciuric Nephrolithiasis 24
X-Linked Hypercalciuric Urolithiasis 24
Clcn5-Related Dent Disease 24
Genetic Hypercalciuria 71
Nephrolithiasis Type 1 56
Nephrolithiasis 2 66
Nphl2 66

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;

HPO:

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


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

OMIM 54 300009
Disease Ontology 12 DOID:0050699
NCIt 47 C123260
SNOMED-CT 64 444645005
MESH via Orphanet 43 C545036 D057973 C538212
UMLS via Orphanet 70 C1839874 C0878681 C1848336
ICD10 via Orphanet 34 N25.8
MedGen 40 C1848336

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 abdominal pain, bone pain and muscular hypotonia. 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 cortex, and related phenotypes are homeostasis/metabolism and renal/urinary system

UniProtKB/Swiss-Prot : 66 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... (300009) more...

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 28)
id Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets 29.0 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 brip1-related breast cancer 10.2 CLCNKA CLCNKB
6 bartter syndrome, type 4b, digenic 10.2 CLCNKA CLCNKB
7 deafness, autosomal recessive 96 10.2 CLCNKA CLCNKB
8 maple syrup urine disease, type ii 10.1 CLCNKA CLCNKB
9 deafness, autosomal recessive 36 10.1 CLCNKA CLCNKB
10 interstitial nephritis 10.1 CLCN5 CUBN LRP2 OCRL
11 adams-oliver syndrome 6 10.1 BGLAP LRP2
12 deafness, nonsyndromic, modifier 1 10.1 CLCN5 CLDN16
13 familial mediterranean fever, ad 10.0 BGLAP CLCN7
14 lowe syndrome 10.0
15 nephrolithiasis 9.9
16 bartter syndrome, type 3 9.9 CLCNKB SLC12A1 SLC12A3
17 episodic kinesigenic dyskinesia 2 9.9 CLCNKB SLC12A1 SLC12A3
18 mixed receptive-expressive language disorder 9.9 CLCN5 CLCNKB CLDN16 SLC12A1
19 aorta angiosarcoma 9.9 CLCNKB SLC12A1 SLC12A3
20 prediabetes syndrome 9.9 BGLAP SLC12A1
21 star syndrome 9.9 CLCN5 INPP5E LRP2 OCRL
22 indian tick typhus 9.8 CLCN5 CLCNKB CLDN16 SLC12A3
23 malignant biphasic mesothelioma 9.8 CLCN5 CLCNKB OCRL SLC12A1 SLC12A3
24 bipolar disorder 9.7 CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A3
25 fanconi syndrome 9.7
26 nephrocalcinosis 9.7
27 kidney disease 9.7
28 cataract 9.7

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



Diseases related to Dent Disease

Symptoms & Phenotypes for Dent Disease

Symptoms by clinical synopsis from OMIM:

300009

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

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 CLDN16 CUBN INPP5E LRP2 OCRL SLC12A1

Drugs & Therapeutics for Dent Disease

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

(show top 50) (show all 248)
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,Phase 3 51-61-6, 62-31-7 681
4
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
5
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
6
Acetylcholine Approved Phase 4 51-84-3 187
7 sodium fluoride Approved Phase 4 7681-49-4
8
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3 148553-50-8 5486971
9
Topiramate Approved Phase 4,Phase 3 97240-79-4 5284627
10
Acetaminophen Approved Phase 4 103-90-2 1983
11
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
12
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
13
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
14
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
15
Ibuprofen Approved Phase 4 15687-27-1 3672
16 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Neurotransmitter Agents Phase 4,Phase 3,Early Phase 1
18 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Early Phase 1
19 Protective Agents Phase 4,Phase 3,Phase 2,Early Phase 1
20 Anti-Infective Agents, Local Phase 4,Phase 3
21 Cariostatic Agents Phase 4,Phase 3,Phase 2
22 Fluorides Phase 4,Phase 3,Phase 2
23 Analgesics Phase 4,Phase 3
24 Analgesics, Non-Narcotic Phase 4,Phase 3
25 Anti-Inflammatory Agents Phase 4,Phase 3
26 Anti-Inflammatory Agents, Non-Steroidal Phase 4
27 Antirheumatic Agents Phase 4,Phase 3
28 Cyclooxygenase Inhibitors Phase 4
29 Dermatologic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
30 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3
31 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3
32 Antiparasitic Agents Phase 4,Phase 3
33 Antiprotozoal Agents Phase 4,Phase 3
34 Adrenergic Agents Phase 4,Phase 3
35 Autonomic Agents Phase 4,Phase 3,Early Phase 1
36 Central Nervous System Stimulants Phase 4,Phase 3
37 Dopamine Agents Phase 4,Phase 3
38 Dopamine Uptake Inhibitors Phase 4,Phase 3
39 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3
40 Cholinergic Agents Phase 4,Phase 3
41 Cholinesterase Inhibitors Phase 4
42 Neuroprotective Agents Phase 4,Phase 3
43 abobotulinumtoxinA Phase 4
44 Botulinum Toxins Phase 4
45 Botulinum Toxins, Type A Phase 4
46 incobotulinumtoxinA Phase 4
47 Neuromuscular Agents Phase 4
48 onabotulinumtoxinA Phase 4
49 Fluorides, Topical Phase 4
50 Listerine Phase 4

Interventional clinical trials:

(show top 50) (show all 144)
id Name Status NCT ID Phase
1 Adjunctive Antimicrobial Therapy of Periodontitis: Long-Term Effects on Disease Progression and Oral Microbiological Colonization Completed NCT00707369 Phase 4
2 Antimicrobial Therapy as Adjunct to Periodontal Treatment: Effect of Timing Completed NCT02197260 Phase 4
3 Prefabricated Endodontic Posts: Glass Fiber Versus Titanium - A Randomized Controlled Pilot- Trial Completed NCT01520766 Phase 4
4 Effects of Rivastigmine Patch on Activities of Daily Living and Cognition in Patients With Severe Dementia of the Alzheimer's Type (ACTION) (Study Protocol CENA713DUS44, NCT00948766) and a 24 Week Open-label Extension to Study CENA713DUS44 Completed NCT00948766 Phase 4
5 A Long-term Efficacy, Safety, and Tolerability Study of BOTOX® in Patients With Chronic Migraine Completed NCT01516892 Phase 4
6 Gingival Recession Coverage With and Without Emdogain Completed NCT02230787 Phase 4
7 Study Comparing Outcomes for Patients With Treatment Resistant Depression Who Receive VNS Therapy at Different Doses Completed NCT00305565 Phase 4
8 MI Varnish and MI Paste Plus in a Caries Prevention and Remineralization Study Completed NCT02424097 Phase 4
9 Propolis Improves Glycemic Control in Subjects With Type 2 Diabetes and Chronic Periodontitis Completed NCT02794506 Phase 4
10 TM vs TSV Implants Loaded Early vs Conventional in Anterior and Posterior Areas Recruiting NCT02158377 Phase 4
11 Vision Testing in Patients With Partial Seizures Receiving Either Lyrica or Placebo Recruiting NCT00351611 Phase 4
12 Efficacy and Safety Study of BOTOX® Compared to Topiramate for the Prevention of Chronic Migraine in Adults Active, not recruiting NCT02191579 Phase 4
13 Tramadol Hydrochloride and Dexketoprofen Trometamol for the Oral Treatment of Moderate to Severe Acute Pain Following Removal of Impacted Lower Third Molar Active, not recruiting NCT02777970 Phase 4
14 Effect of Postsurgical Systemic Doxycycline After Regenerative Periodontal Therapy Terminated NCT01030666 Phase 4
15 Periodontal Disease and Cardiovascular Disease Unknown status NCT00763165 Phase 3
16 Irinotecan With or Without Panitumumab or Cyclosporine in Treating Patients With Advanced or Metastatic Colorectal Cancer That Did Not Respond to Fluorouracil Unknown status NCT00389870 Phase 3
17 A Study of the Safety and Effectiveness of Rabeprazole for the Treatment of Gastroesophageal Reflux Disease (GERD) in Pediatric Patients Completed NCT00787891 Phase 3
18 DHA (Docosahexaenoic Acid), an Omega 3 Fatty Acid, in Slowing the Progression of Alzheimer's Disease Completed NCT00440050 Phase 3
19 Valproate in Dementia (VALID) Completed NCT00071721 Phase 3
20 Bapineuzumab in Patients With Mild to Moderate Alzheimer's Disease (ApoE4 Non-Carrier) Completed NCT00574132 Phase 3
21 Efficacy and Safety Study of SPD489 in Combination With an Antidepressant in the Treatment of Adults With Major Depressive Disorder Completed NCT01436162 Phase 3
22 Comparing the Efficacy of Tiotropium + Olodaterol Fixed Dose Combination (FDC) Over Tiotropium in Improvement of Lung Hyperinflation, Exercise Capacity and Physical Activity in Japanese COPD Patients Completed NCT02629965 Phase 3
23 Safety Study of AVP-923 in the Treatment of IEED (Involuntary Emotional Expression Disorder) Also Known as Pseudobulbar Affect (Episodes of Uncontrolled Crying and/or Laughter) Completed NCT00056524 Phase 3
24 NINDS CRC Chronic Migraine Treatment Trial Completed NCT00772031 Phase 3
25 Safety and Efficacy of AVP-923 for Pseudobulbar Affect in Multiple Sclerosis Patients Completed NCT00050232 Phase 3
26 Phase III Study of Rindopepimut/GM-CSF in Patients With Newly Diagnosed Glioblastoma Completed NCT01480479 Phase 3
27 DFN-02 Open Label Safety Study in Patients With Acute Migraine Completed NCT02279082 Phase 3
28 Efficacy and Safety of 20 mg Sumatriptan Powder Delivered Intranasally With the Bi-directional Device Compared With 100 mg Sumatriptan Tablets in Adults With Acute Migraine With or Without Aura Completed NCT01667679 Phase 3
29 Safety & Efficacy of a Single Dose of Sumatriptan Powder Delivered Intranasally With the Bi-directional Device in Adults With Acute Migraine Completed NCT01462812 Phase 3
30 Safety & Efficacy of Eslicarbazepine Monotherapy in Sub.w/Partial Epilepsy Not Well Controlled by Current Antiepileptic Completed NCT01091662 Phase 3
31 Dose Response Study of Zonegran in Patients With Newly Diagnosed Epilepsy Completed NCT00056576 Phase 3
32 Safety And Efficacy Study Of Once Daily Controlled Release Pregabalin In The Treatment Of Patients With Postherpetic Neuralgia Completed NCT01270828 Phase 3
33 Whole Brain Radiation Therapy With Oxygen, With or Without RSR13, in Women With Brain Metastases From Breast Cancer Completed NCT00083304 Phase 3
34 An Open-Labeled, Extended-Use of XERECEPT (hCRF) for Patients in Studies NTI 0302, 0303, or Other Designated Studies Completed NCT00226655 Phase 3
35 XERECEPT® (hCRF) for Patients Requiring Dexamethasone to Treat Edema Associated With Brain Tumors Completed NCT00088166 Phase 3
36 Ability of L-carnitine to Prevent Heart Damage in Breast Cancer Patients Receiving Anthracycline Chemotherapy Completed NCT00247975 Phase 2, Phase 3
37 PGL4001 Efficacy Assessment in Reduction of Symptoms Due to Uterine Leiomyomata Completed NCT01629563 Phase 3
38 Study of Lamotrigine to Treat Ménière's Disease Recruiting NCT02158585 Phase 3
39 CREAD Study: A Study of Crenezumab Versus Placebo to Evaluate the Efficacy and Safety in Participants With Prodromal to Mild Alzheimer's Disease (AD) Recruiting NCT02670083 Phase 3
40 Clinical Trial of Solanezumab for Older Individuals Who May be at Risk for Memory Loss Recruiting NCT02008357 Phase 3
41 Safety and Efficacy of Levomilnacipran ER in Adolescent Patients With Major Depressive Disorder Recruiting NCT02431806 Phase 3
42 Efficacy, Safety, and Tolerability of Oral Ubrogepant in the Acute Treatment of Migraine Recruiting NCT02867709 Phase 3
43 Efficacy, Safety, and Tolerability of Multiple Dosing Regimens of Oral AGN-241689 in Episodic Migraine Prevention Recruiting NCT02848326 Phase 2, Phase 3
44 Adjuvant Chemotherapy With Gemcitabine and Cisplatin Compared to Observation After Curative Intent Resection of Biliary Tract Cancer Recruiting NCT02170090 Phase 3
45 A Study of Atezolizumab in Locally Advanced or Metastatic Urothelial or Non-Urothelial Carcinoma of the Urinary Tract Recruiting NCT02928406 Phase 3
46 Study to Evaluate Eflornithine + Lomustine vs Lomustine in Recurrent Anaplastic Astrocytoma (AA) Patients Recruiting NCT02796261 Phase 3
47 Chemotherapy With or Without Bevacizumab or Lapatinib to Treat Operable Oesophagogastric Cancer Recruiting NCT00450203 Phase 2, Phase 3
48 Micronized dHACM Injectable for the Treatment of Plantar Fasciitis Recruiting NCT02427191 Phase 2, Phase 3
49 A Study of LY2951742 in Participants With Episodic Cluster Headache Recruiting NCT02397473 Phase 3
50 Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease Active, not recruiting NCT02194985 Phase 3

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, Cortex, Bone Marrow

Publications for Dent Disease

Articles related to Dent Disease:

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

Variations for Dent Disease

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

66 (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
6 10.67 INPP5E OCRL

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 apical plasma membrane GO:0016324 9.73 CUBN LRP2 SLC12A1 SLC12A3
5 endosome GO:0005768 9.72 CLCN4 CLCN5 CUBN LRP2 OCRL
6 lysosomal membrane GO:0005765 9.71 CLCN5 CLCN7 CUBN LRP2
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 ion channel activity GO:0005216 9.54 CLCN4 CLCN5 CLCN7
3 chloride channel activity GO:0005254 9.43 CLCN1 CLCN4 CLCN5 CLCN7 CLCNKA CLCNKB
4 antiporter activity GO:0015297 9.33 CLCN4 CLCN5 CLCN7
5 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.32 INPP5E OCRL
6 cation:chloride symporter activity GO:0015377 9.26 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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