MCID: DNT021
MIFTS: 35

Dent Disease 2

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Dent Disease 2

MalaCards integrated aliases for Dent Disease 2:

Name: Dent Disease 2 54 24 71 29 13 69
Ocrl-Related Dent Disease 24
Nephrolithiasis Type 2 56
Dent Disease Type 2 56
Dd2 71

Characteristics:

Orphanet epidemiological data:

56
dent disease type 2
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

54
Miscellaneous:
onset in early childhood

Inheritance:
x-linked recessive


HPO:

32
dent disease 2:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

OMIM 54 300555
Orphanet 56 ORPHA93623
UMLS via Orphanet 70 C1845167
ICD10 via Orphanet 34 N25.8
MedGen 40 C1845167
MeSH 42 D015499

Summaries for Dent Disease 2

UniProtKB/Swiss-Prot : 71 Dent disease 2: A 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. Characteristic abnormalities include low- molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones.

MalaCards based summary : Dent Disease 2, also known as ocrl-related dent disease, is related to dent disease and lowe syndrome, and has symptoms including short stature, umbilical hernia and nephrocalcinosis. An important gene associated with Dent Disease 2 is OCRL (OCRL, Inositol Polyphosphate-5-Phosphatase). The drugs Rivastigmine and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes.

Description from OMIM: 300555

Related Diseases for Dent Disease 2

Diseases in the Dent Disease family:

Dent Disease 2

Diseases related to Dent Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 dent disease 11.4
2 lowe syndrome 9.9

Symptoms & Phenotypes for Dent Disease 2

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature (in some patients)

Neurologic- Central Nervous System:
cognitive impairment (in some patients)
developmental delay, mild (in some patients)

Abdomen- External Features:
umbilical hernia (in some patients)

Laboratory- Abnormalities:
hypercalciuria
increased creatine kinase
increased lactate dehydrogenase
low-molecular-weight proteinuria
aminoaciduria, mild (in some patients)

Genitourinary- Kidneys:
nephrocalcinosis (in some patients)
proximal renal tubule defect
renal insufficiency, progressive

Head And Neck- Eyes:
mild ocular nuclear density (uncommon)


Clinical features from OMIM:

300555

Human phenotypes related to Dent Disease 2:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 umbilical hernia 32 occasional (7.5%) HP:0001537
3 nephrocalcinosis 32 occasional (7.5%) HP:0000121
4 hypercalciuria 32 HP:0002150
5 cognitive impairment 32 HP:0100543
6 global developmental delay 32 HP:0001263
7 aminoaciduria 32 HP:0003355
8 chronic kidney disease 32 HP:0012622
9 proximal tubulopathy 32 HP:0000114
10 low-molecular-weight proteinuria 32 HP:0003126
11 elevated serum creatine phosphokinase 32 HP:0003236

Drugs & Therapeutics for Dent Disease 2

Drugs for Dent Disease 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 132)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
2
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613 2171
3
Metronidazole Approved Phase 4,Early Phase 1 443-48-1 4173
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
6 Neurotransmitter Agents Phase 4,Phase 3,Early Phase 1
7 Peripheral Nervous System Agents Phase 4,Phase 3,Early Phase 1
8 Cholinergic Agents Phase 4,Phase 3
9 Cholinesterase Inhibitors Phase 4
10 Neuroprotective Agents Phase 4
11 Protective Agents Phase 4,Early Phase 1
12 Anti-Bacterial Agents Phase 4
13 Antibiotics, Antitubercular Phase 4
14 Anti-Infective Agents Phase 4,Phase 2,Phase 1
15 Antiparasitic Agents Phase 4
16 Antiprotozoal Agents Phase 4
17 Adrenergic Agents Phase 4,Phase 3
18 Autonomic Agents Phase 4,Phase 3,Early Phase 1
19 Central Nervous System Stimulants Phase 4
20 Dopamine Agents Phase 4
21 Dopamine Uptake Inhibitors Phase 4
22 Neurotransmitter Uptake Inhibitors Phase 4
23
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
24
Valproic Acid Approved, Investigational Phase 3 99-66-1 3121
25 Olodaterol Approved Phase 3 868049-49-4
26
Bevacizumab Approved, Investigational Phase 3 216974-75-3
27
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
28
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
29
Lomustine Approved Phase 3 13010-47-4 3950
30
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
31
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
32
Palbociclib Approved Phase 3 571190-30-2 11431660 5005498 5330286
33
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
34 Dianhydrogalactitol Investigational Phase 3 23261-20-3
35 Hormone Antagonists Phase 3,Phase 2
36 Hormones Phase 3,Phase 2
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
38 Anticonvulsants Phase 3
39 calcium channel blockers Phase 3
40 Calcium, Dietary Phase 3,Phase 1,Phase 2
41 Diuretics, Potassium Sparing Phase 3
42 Excitatory Amino Acid Antagonists Phase 3
43 Excitatory Amino Acids Phase 3
44 Sodium Channel Blockers Phase 3
45 Antimanic Agents Phase 3
46 Central Nervous System Depressants Phase 3,Early Phase 1
47 GABA Agents Phase 3
48 Psychotropic Drugs Phase 3
49 Tranquilizing Agents Phase 3
50 Adrenergic Agonists Phase 3

Interventional clinical trials:

(show all 44)

id Name Status NCT ID Phase Drugs
1 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 Rivastigmine 4.6 mg/24 h (5 cm^2);Rivastigmine 9.5 mg/24 h (10 cm^2);Rivastigmine 13.3 mg/24 h (15 cm^2);Placebo
2 Adjunctive Antimicrobial Therapy of Periodontitis: Long-Term Effects on Disease Progression and Oral Microbiological Colonization Completed NCT00707369 Phase 4 Amoxicillin and Metronidazole;Placebo
3 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
4 Prefabricated Endodontic Posts: Glass Fiber Versus Titanium - A Randomized Controlled Pilot- Trial Completed NCT01520766 Phase 4
5 Study of Lamotrigine to Treat Ménière's Disease Completed NCT02158585 Phase 3 Lamotrigine;Placebo
6 DHA (Docosahexaenoic Acid), an Omega 3 Fatty Acid, in Slowing the Progression of Alzheimer's Disease Completed NCT00440050 Phase 3 DHA (Docosahexaenoic Acid);Placebo
7 Valproate in Dementia (VALID) Completed NCT00071721 Phase 3 Valproate;Placebo
8 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 tiotropium;olodaterol;tiotropium
9 An Efficacy and Safety Study of JNJ-54861911 in Participants Who Are Asymptomatic at Risk for Developing Alzheimer's Dementia Recruiting NCT02569398 Phase 2, Phase 3 JNJ-54861911, 5 mg;JNJ-54861911, 25 mg;Placebo
10 VAL-083 Phase 3 Study in Temozolomide-Avastin (Bevacizumab) Recurrent GBM Recruiting NCT03149575 Phase 3 VAL-083, Dianhydrogalactitol;Physician's Choice of Salvage Therapy - temozolomide;Physician's Choice of Salvage Therapy - lomustine;Physician's Choice of Salvage Therapy - carboplatin
11 A Study of Palbociclib (PD-0332991) + Letrozole vs. Letrozole For 1st Line Treatment Of Postmenopausal Women With ER+/HER2- Advanced Breast Cancer (PALOMA-2) Active, not recruiting NCT01740427 Phase 3 PD-0332991;Letrozole;Placebo;Letrozole
12 Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
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 A 24-Week Safety and Pharmacodynamic Study of AT1001 in Patients With Fabry Disease Completed NCT00283933 Phase 2 AT1001 (migalastat hydrochloride)
15 Use of Electromyography With Bio-Feedback for the Treatment of Craniomandibular Disorders Completed NCT01949064 Phase 2
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 Trial to Evaluate the Therapeutic Benefit of Fulvestrant in Combination With ZACTIMA in Postmenopausal Women With Bone Predominant, Hormone Receptor Positive Metastatic Breast Cancer Completed NCT00811369 Phase 2 Fulvestrant + ZACTIMA;Fulvestrant + Placebo
18 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
19 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
20 Safety and Efficacy of Piromelatine in Mild Alzheimer's Disease Patients (ReCOGNITION) Recruiting NCT02615002 Phase 2 Piromelatine;Placebo
21 A Study of LY3202626 on Disease Progression in Participants With Mild Alzheimer's Disease Dementia Recruiting NCT02791191 Phase 2 LY3202626;Placebo
22 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)
23 The Efficacy of a VR Enhanced Video Exposure Therapy for Dental Phobia Not yet recruiting NCT03098134 Phase 2
24 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
25 A Study of the PK, Safety and Antiviral Activity of A-831 in HCV Carriers Terminated NCT00522808 Phase 1, Phase 2 A-831
26 Efficacy of Sumatriptan With Naprosyn in Migraine With Aura Unknown status NCT00893594 sumatriptan with naprosyn;placebo
27 The Effect of 2-DeNT Oral Topical Powder on Minor Recurrent Aphthous Ulcer Completed NCT02142543 Early Phase 1 2-DeNT powder;Placebo Comparator
28 Randomized Trial Assessing the Effectiveness of a Pharmacist-Delivered Program for Smoking Cessation Completed NCT00670904
29 ADNI: Alzheimer's Disease Neuroimaging Initiative Completed NCT00106899
30 Evaluation of a New Self-reported Tool for Periodontitis Screening Completed NCT02754401
31 Activated MMP-8 as Diagnostic Test for Periodontitis Completed NCT02280122
32 Treatment-Resistant Depression Registry Completed NCT00320372
33 Alzheimer's Disease Neuroimaging Initiative Grand Opportunity Completed NCT01078636
34 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
35 Rare Kidney Stone Consortium Biobank Recruiting NCT02026388
36 Rare Kidney Stone Consortium Patient Registry Recruiting NCT00588562
37 Monogenic Kidney Stone - Genetic Testing Recruiting NCT03305835
38 Dental Prophylaxis and Rheumatoid Arthritis Recruiting NCT03087240
39 Alzheimer's Disease Neuroimaging Initiative 3 (ADNI3) Protocol Recruiting NCT02854033
40 Treatment Efficiency of Acupuncture in Non Chronified Pain Patients With TMDs Recruiting NCT02637544
41 The Effect of Non-surgical Periodontal Treatment in the Renal Function of Patients With Chronic Kidney Disease: RCT Recruiting NCT01217281
42 Alzheimer's Disease Neuroimaging Initiative 2 Active, not recruiting NCT01231971
43 Dental Erosion in Patients With Gastro-oesophageal Reflux Enrolling by invitation NCT02775149
44 Clinical Evaluation of Stabilizing Splint Versus Pivot Splint as Jaw Exercise Together With Stabilizing Splint Not yet recruiting NCT02992379

Search NIH Clinical Center for Dent Disease 2

Genetic Tests for Dent Disease 2

Genetic tests related to Dent Disease 2:

id Genetic test Affiliating Genes
1 Dent Disease 2 29 24 OCRL

Anatomical Context for Dent Disease 2

MalaCards organs/tissues related to Dent Disease 2:

39
Kidney, Bone, Testes, Breast, Lung, Liver, Colon

Publications for Dent Disease 2

Articles related to Dent Disease 2:

id Title Authors Year
1
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. ( 28669993 )
2017
2
Muscle involvement in Dent disease 2. ( 24912603 )
2014
3
Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. ( 21183592 )
2011

Variations for Dent Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Dent Disease 2:

71
id Symbol AA change Variation ID SNP ID
1 OCRL p.Arg318Cys VAR_022698 rs137853263
2 OCRL p.Tyr479Cys VAR_022699 rs137853262
3 OCRL p.Asn354His VAR_064777 rs137853833
4 OCRL p.Arg493Trp VAR_064786 rs137853846
5 OCRL p.Pro799Leu VAR_064792

ClinVar genetic disease variations for Dent Disease 2:

6 (show all 12)
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 OCRL OCRL, ARG476TRP single nucleotide variant Pathogenic
4 OCRL OCRL, ILE526THR single nucleotide variant Pathogenic
5 OCRL OCRL, 2-BP DEL, 166TT deletion Pathogenic
6 OCRL NM_000276.3(OCRL): c.1477C> T (p.Arg493Trp) single nucleotide variant Likely pathogenic rs137853846 GRCh37 Chromosome X, 128703251: 128703251
7 OCRL NM_000276.3(OCRL): c.2563delG (p.Val855Serfs) deletion Pathogenic rs398123288 GRCh37 Chromosome X, 128723915: 128723915
8 OCRL NM_000276.3(OCRL): c.2582-1G> A single nucleotide variant Pathogenic rs398123289 GRCh37 Chromosome X, 128724122: 128724122
9 OCRL NM_000276.3(OCRL): c.909_910delAG (p.Gly304Phefs) deletion Pathogenic rs398123290 GRCh37 Chromosome X, 128695240: 128695241
10 OCRL NM_000276.3(OCRL): c.2299C> T (p.Gln767Ter) single nucleotide variant Pathogenic rs794727333 GRCh37 Chromosome X, 128722198: 128722198
11 OCRL NM_000276.3: c.2140_*2286del deletion Pathogenic
12 OCRL NG_008638.1: g.(5550_9683)_(13328_22050)del deletion Pathogenic

Expression for Dent Disease 2

Search GEO for disease gene expression data for Dent Disease 2.

Pathways for Dent Disease 2

GO Terms for Dent Disease 2

Sources for Dent Disease 2

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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