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MCID: TTH006
MIFTS: 51

Tooth Disease

Categories: Oral diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Tooth Disease

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MalaCards integrated aliases for Tooth Disease:

Name: Tooth Disease 12 15 17
Tooth Diseases 44 70
Abnormality of the Teeth 6
Tooth Disorders 42
Teeth Disease 12

Classifications:

MalaCards categories:
Anatomical: Oral diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:1091
MeSH 44 D014076
SNOMED-CT 67 72722003
UMLS 70 C0040435
Sources

Summaries for Tooth Disease

About this section
MedlinePlus : 42 What are teeth? Your teeth are made of a hard, bonelike material. There are four parts: Enamel, your tooth's hard surface Dentin, the hard yellow part under the enamel Cementum, the hard tissue that covers the root and keeps your teeth in place Pulp, the soft connective tissue in the center of your tooth. It contains nerves and blood vessels. You need your teeth for many activities that you may take for granted. These include eating, speaking and even smiling. What are tooth disorders? There are many different problems that can affect your teeth, including Tooth decay - damage to a tooth's surface, which can lead to cavities Abscess - a pocket of pus, caused by a tooth infection Impacted tooth - a tooth did not erupt (break through the gum) when it should have. It is usually wisdom teeth that are impacted, but it can sometimes happen to other teeth. Misaligned teeth (malocclusion) Tooth injuries such as broken or chipped teeth What causes tooth disorders? The causes of tooth disorders varies, depending on the problem. Sometimes the cause is not taking good care of your teeth. In other cases, you may have been born with the problem or the cause is an accident. What are the symptoms of tooth disorders? The symptoms can vary, depending on the problem. Some of the more common symptoms include Abnormal color or shape of the tooth Tooth pain Worn-down teeth How are tooth disorders diagnosed? Your dentist will ask about your symptoms, look at your teeth, and probe them with dental instruments. In some cases, you may need dental x-rays. What are the treatments for tooth disorders? The treatment will depend on the problem. Some common treatments are Fillings for cavities Root canals for cavities or infections that affect the pulp (inside of the tooth) Extractions (pulling teeth) for teeth that are impacted and causing problems or are too damaged to be fixed. You may also have a tooth or teeth pulled because of overcrowding in your mouth. Can tooth disorders be prevented? The main thing that you can do to prevent tooth disorders is to take good care of your teeth: Brush your teeth twice a day with a fluoride toothpaste Clean between your teeth every day with floss or another type of between-the-teeth cleaner Limit sugary snacks and drinks Don't smoke or chew tobacco See your dentist or oral health professional regularly

MalaCards based summary : Tooth Disease, also known as tooth diseases, is related to charcot-marie-tooth disease and charcot-marie-tooth disease, axonal, type 2e, and has symptoms including snoring, halitosis and toothache. An important gene associated with Tooth Disease is MFN2 (Mitofusin 2), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Ketamine and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include teeth, bone and brain, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A mouth disease located in the teeth.

Sources

Related Diseases for Tooth Disease

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

(show top 50) (show all 548)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 34.2 SH3TC2 SBF2 PMP22 NEFL MPZ MFN2
2 charcot-marie-tooth disease, axonal, type 2e 34.2 SH3TC2 SBF2 PMP22 NEFL MPZ MFN2
3 charcot-marie-tooth disease and deafness 34.0 SH3TC2 SBF2 PMP22 NEFL MPZ MFN2
4 charcot-marie-tooth disease, demyelinating, type 1a 33.9 SH3TC2 SBF2 PMP22 NEFL MPZ MFN2
5 charcot-marie-tooth disease, demyelinating, type 1b 33.9 SH3TC2 SBF2 PMP22 NEFL MPZ MFN2
6 charcot-marie-tooth disease, axonal, type 2b 33.8 SH3TC2 SBF2 NEFL MPZ MFN2 LITAF
7 charcot-marie-tooth disease, demyelinating, type 1c 33.8 SH3TC2 SBF2 PMP22 NEFL MPZ MFN2
8 charcot-marie-tooth disease, type 4a 33.8 SH3TC2 SBF2 MPZ MFN2 LITAF KIF1B
9 charcot-marie-tooth disease, type 4b2 33.8 SH3TC2 SBF2 NEFL MPZ MFN2 LITAF
10 charcot-marie-tooth disease, axonal, type 2f 33.8 NEFL MPZ MFN2 LITAF KIF1B HSPB8
11 neuropathy, congenital hypomyelinating, 1, autosomal recessive 33.8 SH3TC2 SBF2 PMP22 NEFL MPZ MFN2
12 charcot-marie-tooth disease, axonal, type 2b2 33.8 NEFL MPZ MFN2 LRSAM1 KIF1B HSPB8
13 charcot-marie-tooth disease, axonal, type 2d 33.8 SH3TC2 PMP22 NEFL MPZ MFN2 HSPB8
14 hypertrophic neuropathy of dejerine-sottas 33.7 SH3TC2 SBF2 PMP22 NEFL MPZ MFN2
15 charcot-marie-tooth disease, x-linked dominant, 1 33.7 SH3TC2 PMP22 NEFL MPZ MFN2 LITAF
16 hereditary motor and sensory neuropathy, type iic 33.7 SH3TC2 NEFL MPZ MFN2 HSPB8 GJB1
17 charcot-marie-tooth disease, type 4d 33.7 SH3TC2 SBF2 MPZ LITAF GJB1 GDAP1
18 charcot-marie-tooth disease, axonal, type 2j 33.7 SH3TC2 SBF2 NEFL MPZ GDAP1 EGR2
19 charcot-marie-tooth disease, axonal, type 2b1 33.7 MFN2 LRSAM1 LMNA GDAP1
20 charcot-marie-tooth disease, type 4b1 33.7 SH3TC2 SBF2 MPZ LITAF GDAP1
21 charcot-marie-tooth disease, demyelinating, type 1f 33.7 SBF2 NEFL MPZ LITAF KIF1B GJB1
22 charcot-marie-tooth disease, axonal, type 2a1 33.7 MPZ MFN2 LRSAM1 KIF1B HSPB8 GDAP1
23 charcot-marie-tooth disease, axonal, type 2i 33.7 SH3TC2 NEFL MPZ KIF1B HSPB8 GJB1
24 charcot-marie-tooth disease, type 4c 33.7 SH3TC2 SBF2 MPZ LITAF GJB1 GDAP1
25 charcot-marie-tooth disease, dominant intermediate b 33.6 SH3TC2 SBF2 MPZ LITAF GDAP1
26 charcot-marie-tooth disease, axonal, type 2l 33.6 NEFL MPZ MFN2 KIF1B HSPB8 HSPB1
27 charcot-marie-tooth disease, demyelinating, type 4f 33.6 SH3TC2 SBF2 MPZ LITAF GDAP1 EGR2
28 charcot-marie-tooth disease, type 4j 33.6 SH3TC2 SBF2 MPZ LITAF GDAP1
29 charcot-marie-tooth disease, type 4h 33.6 SH3TC2 SBF2 MPZ GDAP1
30 charcot-marie-tooth disease, demyelinating, type 1d 33.6 PMP22 MPZ LITAF GJB1 GDAP1 EGR2
31 charcot-marie-tooth disease, dominant intermediate e 33.6 SH3TC2 SBF2 MPZ GDAP1
32 charcot-marie-tooth disease, axonal, type 2p 33.6 LRSAM1 LITAF GDAP1
33 charcot-marie-tooth disease, type 4b3 33.5 SH3TC2 SBF2 PMP22 MPZ GDAP1
34 charcot-marie-tooth disease, axonal, type 2t 33.5 SH3TC2 LRSAM1 GDAP1
35 charcot-marie-tooth disease, recessive intermediate a 33.5 MFN2 HSPB8 GDAP1
36 charcot-marie-tooth disease, axonal, type 2w 33.4 MPZ GJB1 GDAP1
37 charcot-marie-tooth disease, dominant intermediate d 33.4 SH3TC2 MPZ KIF1B
38 charcot-marie-tooth disease, dominant intermediate c 33.4 MPZ GJB1 GDAP1
39 charcot-marie-tooth disease, x-linked recessive, 2 33.4 MPZ MFN2 LITAF GJB1 EGR2
40 charcot-marie-tooth disease, axonal, type 2k 33.4 HSPB8 GDAP1
41 neuropathy, hereditary motor and sensory, russe type 33.4 SH3TC2 GDAP1 EGR2
42 charcot-marie-tooth disease, type 4k 33.4 SH3TC2 LITAF
43 charcot-marie-tooth disease, dominant intermediate a 33.3 MPZ GJB1 GDAP1
44 charcot-marie-tooth disease, axonal, type 2r 33.3 LRSAM1 GDAP1
45 charcot-marie-tooth disease, axonal, type 2h 33.3 LRSAM1 GDAP1
46 charcot-marie-tooth disease intermediate type 33.3 SH3TC2 SBF2 MPZ MFN2 LRSAM1 LITAF
47 charcot-marie-tooth disease type x 33.1 SH3TC2 PMP22 NEFL MPZ MFN2 LITAF
48 charcot-marie-tooth disease type 2a 33.0 MFN2 KIF1B
49 charcot-marie-tooth disease type 2a2a 33.0 MFN2 LRSAM1
50 neuropathy, hereditary, with liability to pressure palsies 32.8 SH3TC2 SBF2 PMP22 MPZ MFN2 LITAF

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



Diseases related to Tooth Disease
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Symptoms & Phenotypes for Tooth Disease

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UMLS symptoms related to Tooth Disease:


snoring; halitosis; toothache; poor dentition

GenomeRNAi Phenotypes related to Tooth Disease according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.16 GJB1
2 Decreased viability GR00055-A-2 10.16 GJB1
3 Decreased viability GR00107-A-1 10.16 HSPB8
4 Decreased viability GR00221-A-1 10.16 HSPB8
5 Decreased viability GR00221-A-4 10.16 HSPB8
6 Decreased viability GR00240-S-1 10.16 LMNA
7 Decreased viability GR00249-S 10.16 COL17A1 GJB1 HSPB1 LMNA MPZ SATB2
8 Decreased viability GR00301-A 10.16 HSPB8
9 Decreased viability GR00381-A-1 10.16 HSPB1 LRSAM1 MPZ SH3TC2
10 Decreased viability GR00381-A-3 10.16 MPZ
11 Decreased viability GR00386-A-1 10.16 EGR2 LMNA LRSAM1 MPZ NEFL SATB2
12 Decreased viability GR00402-S-2 10.16 COL7A1 GJB1 LRSAM1 MPZ PRMT7 SCUBE3
13 Increased gamma-H2AX phosphorylation GR00053-A 9.28 COL17A1 EGR2 GJB1 HSPB1 LMNA MPZ

MGI Mouse Phenotypes related to Tooth Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 EGR2 GDAP1 GJB1 HSPB8 KIF1B LMNA
2 homeostasis/metabolism MP:0005376 10.28 EGR2 GDAP1 GJB1 HSPB1 HSPB8 KIF1B
3 cellular MP:0005384 10.21 EGR2 GDAP1 GJB1 HSPB1 HSPB8 LITAF
4 nervous system MP:0003631 10.13 EGR2 GDAP1 GJB1 HSPB8 KIF1B LITAF
5 limbs/digits/tail MP:0005371 9.97 COL7A1 EGR2 GDAP1 KIF1B LMNA PMP22
6 muscle MP:0005369 9.87 HSPB8 KIF1B LMNA MFN2 PMP22 PRMT7
7 normal MP:0002873 9.76 COL7A1 EGR2 HSPB1 LMNA LRSAM1 MFN2
8 respiratory system MP:0005388 9.5 EGR2 HSPB8 KIF1B LMNA MPZ SATB2
9 skeleton MP:0005390 9.28 COL7A1 EGR2 KIF1B LMNA MFN2 PRMT7
Sources

Drugs & Therapeutics for Tooth Disease

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

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
3 Excitatory Amino Acid Antagonists Phase 4
4 Analgesics Phase 4
5 Anesthetics, Dissociative Phase 4
6 Anesthetics, Intravenous Phase 4
7 Anesthetics, General Phase 4
8 Trace Elements Phase 4
9 Nutrients Phase 4
10 Micronutrients Phase 4
11 Vitamins Phase 4
12 Protective Agents Phase 4
13 Antioxidants Phase 4
14 Vitamin B9 Phase 4
15 Vitamin B Complex Phase 4
16 Folate Phase 4
17 Alpha-lipoic Acid Phase 4
18 Thioctic Acid Phase 4
19
Acetylcarnitine Approved, Investigational Phase 2, Phase 3 3040-38-8 7045767
20
Ibuprofen Approved Phase 3 15687-27-1 3672
21
Caffeine Approved Phase 3 58-08-2 2519
22
Ethanol Approved Phase 3 64-17-5 702
23
Sorbitol Approved Phase 3 50-70-4 5780
24
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
25
Baclofen Approved Phase 3 1134-47-0 2284
26
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
27 Central Nervous System Stimulants Phase 3
28 carnitine Phase 2, Phase 3
29 Nootropic Agents Phase 2, Phase 3
30 Analgesics, Non-Narcotic Phase 3
31 Antirheumatic Agents Phase 3
32 Cyclooxygenase Inhibitors Phase 3
33 Anti-Inflammatory Agents, Non-Steroidal Phase 3
34 Phosphodiesterase Inhibitors Phase 3
35 Neurotransmitter Agents Phase 3
36 Pharmaceutical Solutions Phase 3
37 Gastrointestinal Agents Phase 3
38 Narcotics Phase 3
39 Cathartics Phase 3
40 GABA Agonists Phase 3
41 Laxatives Phase 3
42 Narcotic Antagonists Phase 3
43 Neuroprotective Agents Phase 2, Phase 3
44 Epoetin alfa Phase 2, Phase 3 113427-24-0
45 Hematinics Phase 2, Phase 3
46
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
47
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 1, Phase 2 303-98-0 5281915
48
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 171548
49 Ubiquinone Phase 1, Phase 2
50 Vitamin B7 Phase 2

Interventional clinical trials:

(show top 50) (show all 111)
# Name Status NCT ID Phase Drugs
1 Success Rate Evaluation of Miniature Pulpotomy With MTA in Primary Molars Unknown status NCT02286648 Phase 4 Formocresol;Mineral Trioxide Aggregate
2 Effect of Racemic Ketamine on Pain in Females and Males After Surgical Removal of Third Molars Completed NCT00232492 Phase 4 Placebo males;Ketamine 0,1 mg/kg males;Ketamine 0,3 mg/kg males;Ketamine 0,5 mg/kg males;Placebo females;Ketamine 0,1 mg/kg females;Ketamine 0,3 mg/kg females;Ketamine 0,5 mg/kg females
3 The Association of Alpha Lipoic Acid to the Median Nerve Decompression in the Carpal Tunnel Syndrome: a Randomized Controlled Trial. Completed NCT01895621 Phase 4
4 Lidocaine and Triamcinolone vs Saline Trigger Point Injection for Treatment of Chronic Abdominal Wall Pain Withdrawn NCT02748395 Phase 4 Triamcinolone;Lidocaine
5 A Multicenter Study to Evaluate the Effects on Charcot-Marie-Tooth Neuropathy Type 1A of a Composite Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program. Unknown status NCT01289704 Phase 2, Phase 3
6 Clinical Evaluation of Cemented and Angulated Screw-retained Crowns Following Immediate Implant Placement: a Randomized Controlled Clinical Trials Completed NCT04160247 Phase 3
7 A Randomized, Placebo-controlled, Double Masked 120 Subject "Futility Design" Clinical Trial of Ascorbic Acid Treatment of Charcot Marie Tooth Disease Type 1A. Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
8 International, Multi-center, Randomized, Double-blind, Placebo-controlled Phase III Study Assessing in Parallel Groups the Efficacy and Safety of 2 Doses of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Treated 15 Months Completed NCT02579759 Phase 3 PXT3003 dose 1;PXT3003 dose 2;placebo
9 Acetyl-l-carnitine to Enhance Nerve Regeneration in Carpal Tunnel Syndrome; a Randomized Control Trial. Completed NCT02141035 Phase 2, Phase 3 Acetyl-l-carnitine;placebo
10 A Single-centre, Double-blind, Randomised, Two-stage, Parallel-group Study to Assess the Efficacy and Safety of the Fixed Dose Combination of Ibuprofen 400 mg and Caffeine 100 mg Versus Ibuprofen 400 mg, Caffeine 100 mg and Placebo in Patients With Postoperative Dental Pain Completed NCT01929031 Phase 3 ibuprofen + caffeine;ibuprofen;ibuprofen;caffeine;ibuprofen + caffeine;placebo;placebo;caffeine;ibuprofen;ibuprofen + caffeine
11 A Multi-center, Randomized, Double-blind, Placebo Controlled Phase III Study to Assess the Efficacy, Safety, and Tolerability of PXT3003 in Charcot-Marie-Tooth Type 1A (CMT1A) Recruiting NCT04762758 Phase 3 (RS)-baclofen, naltrexone hydrochloride and D-sorbitol;Placebo
12 International, Multi-center, Open Label, Follow-up Extension Study Assessing the Long-term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A Active, not recruiting NCT03023540 Phase 3 PXT3003
13 Recombinant Human Erythropoietin (r-HuEPO) in the Prevention of Neurologic Sequelae From Malignant Spinal Cord Compression: a Multi-Center, Placebo-Controlled, Phase 2 Randomized Study Terminated NCT00220675 Phase 2, Phase 3 Erythropoietin infusion
14 The Influence of Pronator Teres Release in the Treatment of Median Nerve Compression Neuropathy: A Randomized Prospective Study Unknown status NCT01562860 Phase 2
15 A Phase II, Randomized, Placebo-controlled Trial of the Safety, Efficacy, Pharmacodynamics and Pharmacokinetics of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A. Completed NCT01401257 Phase 2 PXT3003 Low dose;PXT3003 Intermediate Dose;PXT3003 High Dose
16 Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease Completed NCT02561702 Phase 2 Mexiletine
17 Effects of Coenzyme Q10 (CoQ10) on Subjects With Charcot-Marie-Tooth Disease (CMT):A Double Blind, Randomized, Controlled Trial With an Open Label Follow-up Study Completed NCT00541164 Phase 1, Phase 2 Coenzyme Q10
18 Phase 2 Study of Ascorbic Acid Treatment in Charcot-Marie-Tooth Type 1A Completed NCT00271635 Phase 2 Placebo;ascorbic acid
19 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
20 Neuropathy Along the Median Nerve: Etiology of Symptoms Associated With the Carpal Tunnel Syndrome, a Preliminary Study Completed NCT00634738 Phase 1, Phase 2
21 Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A) Recruiting NCT03520751 Phase 1, Phase 2 scAAV1.tMCK.NTF3
22 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Types 1 and X Terminated NCT03124459 Phase 2 ACE-083;Placebo
23 A Randomized, Double-Blind, Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of FLX-787-ODT for Treatment of Muscle Cramps in Adult Subjects With Charcot-Marie-Tooth Disease Terminated NCT03254199 Phase 2 FLX-787-ODT (orally disintegrating tablet);Placebo ODT
24 An Open-Label Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) Previously Enrolled in Study A083-02 and in Patients With Charcot-Marie Tooth (CMT) Disease Types 1 and X Previously Enrolled in Study A083-03 Terminated NCT03943290 Phase 2 ACE-083
25 LONG-TERM EFFECTS TOLERANCE AND THE Ulipristal Acetate IN DISEASE Charcot-MARIE-TOOTH TYPE OF 1A Terminated NCT02600286 Phase 2 EllaOne;EllaOne placebo
26 Clinical Performance of a Newly Developed Glass Ionomer Restorative Material for Posterior Restorations in an Adolescent Population Unknown status NCT02705729
27 Clinical Evaluation of a Self-Adhering Flowable Composite in Class I Cavities Unknown status NCT03556553
28 Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT Unknown status NCT02979145
29 Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others Unknown status NCT01193075
30 Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers Unknown status NCT02596191
31 Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth Unknown status NCT01203085
32 Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs Unknown status NCT01918826
33 The Feasibility and Effect of Ankle Foot Orthoses and Underfoot Vibration on the Postural Stability of People With Inherited Neuropathy Unknown status NCT03278093
34 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
35 Linkage and Identification of (a) Candidate Gene(s) for Tooth Disorders Unknown status NCT00026026
36 Regenerative Endodontic Procedure of Immature Permanent Teeth With Apical Periodontitis Using Platelet-rich Fibrin : A Pilot Randomized Controlled Trial Unknown status NCT02801552
37 Clinical Trial of Safety and Efficacy of the Medical Item Collagen Plates With Hydroxyapol Inducing Angiogenesis, "Nukleostim", for Bone Tissue Regeneration Unknown status NCT02293031
38 Clinical Evaluation Between Zirconia Crowns and Stainless Steel Crowns in Primary Molars Teeth Completed NCT03067337
39 Esthetic Outcomes of Immediately Placed Implants Receiving Immediate Provisionalization and Delayed Restoration Completed NCT01925339
40 Standardization of Evaluation Protocol for the Performance Comparison of Digital Intra-oral Scanners Completed NCT02868957
41 BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease Completed NCT02982343
42 Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease Completed NCT01455623
43 Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A Completed NCT01750710
44 Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients Completed NCT02001038
45 Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients Completed NCT04786522
46 Clinical and Genetic Features of Familial Neuropathy Completed NCT00149045
47 A Randomized Double Blind Longitudinal Study to Determine Motor Unit Number Index Variability in CMT1A Patients Undergoing a Home Ankle Strengthening Program Versus Standard of Care Completed NCT03715283
48 Biomarkers and Validation of Selected Outcome Measures (CMTNSmod) Completed NCT03386266
49 An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients Completed NCT02429947
50 A Prospective Randomized-controlled Evaluation of Nanotite and Osseotite Surfaced Implant Performance in Graduate Student Programs Completed NCT00726063

Search NIH Clinical Center for Tooth Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Camphor
CAMPHOR CRYSTALS
CAMPHOR GUM
CAMPHOR,MONOBROMATED

Cochrane evidence based reviews: tooth diseases

Sources

Genetic Tests for Tooth Disease

About this section
Sources

Anatomical Context for Tooth Disease

About this section

The Foundational Model of Anatomy Ontology organs/tissues related to Tooth Disease:

19
Teeth

MalaCards organs/tissues related to Tooth Disease:

40
Bone, Brain, Spinal Cord, Skin, Skeletal Muscle, Liver, Tonsil
Sources

Publications for Tooth Disease

About this section

Articles related to Tooth Disease:

(show top 50) (show all 3224)
# Title Authors PMID Year
1
Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases. 61
33581222 2021
2
Reference values for lower limb nerve ultrasound and its diagnostic sensitivity. 61
33775342 2021
3
Cochlear implantation in patient with Charcot-Marie-Tooth disease. 61
32265048 2021
4
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients. 61
32376792 2021
5
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. 61
33220101 2021
6
Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A. 61
33750896 2021
7
Multidimensional evaluation is necessary to assess hand function in patients with Charcot-Marie-Tooth disease type 1A. 61
32109594 2021
8
High-density surface electromyography to assess motor unit firing rate in Charcot-Marie-Tooth disease type 1A patients. 61
33483296 2021
9
CIDP, CMT1B, or CMT1B plus CIDP? 61
33070202 2021
10
Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease. 61
33340200 2021
11
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS. 61
33753480 2021
12
AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy. 61
33692503 2021
13
[A case of Charcot-Marie-Tooth disease type 2Z caused by MORC2 S87L mutation mimicking spinal muscular atrophy]. 61
33762496 2021
14
Dynamic plantar pressure patterns in children and adolescents with Charcot-Marie-Tooth disease. 61
33713897 2021
15
A novel PMP22 insertion mutation causing Charcot-Marie-Tooth disease type 3: A case report. 61
33726003 2021
16
Association between restless legs syndrome and peripheral neuropathy: A systematic review and meta-analysis. 61
33772991 2021
17
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan. 61
33179255 2021
18
A prospective study on surgical management of foot deformities in Charcot Marie tooth disease. 61
33650166 2021
19
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P. 61
33414056 2021
20
LRSAM1 and the RING domain: Charcot-Marie-Tooth disease and beyond. 61
33568173 2021
21
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients. 61
33405357 2021
22
Certification of a Pilot with Charcot-Marie-Tooth Disease. 61
33468294 2021
23
Effects of early crush on aging wild type and Connexin 32 knockout mice: Evidence for a neuroprotective state in CMT1X mouse nerve. 61
33624350 2021
24
Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients. 61
33587240 2021
25
Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy. 61
33567613 2021
26
Charcot-Marie-Tooth Disease With Long-Term Follow-Up on Auditory Neuropathy-After Cochlear Implantation Or Hearing Aid Use. 61
33625198 2021
27
Microstructural Integrity of Peripheral Nerves in Charcot-Marie-Tooth Disease: An MRI Evaluation Study. 61
32918328 2021
28
Multiple cranial nerve enlargement in Charcot-Marie-Tooth disease. 61
33243855 2021
29
Performance fatigability during gait in adults with Charcot-Marie-Tooth disease. 61
33618167 2021
30
Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study. 61
33086913 2021
31
The impact of orthoses on gait in children with Charcot-Marie-Tooth disease. 61
33610823 2021
32
Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure. 61
33222249 2021
33
Gait parameters as tools for analyzing phenotypic alterations of a mouse model of Charcot-Marie-Tooth disease. 61
33717412 2021
34
[Analysis of a Chinese pedigree with autosomal dominant Charcot-Marie-Tooth disease type 2A2A]. 61
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Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies. 61
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Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy. 61
33323309 2021
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Pes cavovarus in Charcot-Marie-Tooth compared to the idiopathic cavovarus foot: A preliminary weightbearing CT analysis. 61
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The dazzling rise of neurofilaments: Physiological functions and roles as biomarkers. 61
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Magnetic resonance neurography in diagnosing childhood chronic inflammatory demyelinating polyradiculoneuropathy. 61
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Rate of neuropathic progression in hereditary transthyretin amyloidosis with polyneuropathy and other peripheral neuropathies: a systematic review and meta-analysis. 61
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Vestibular impairment in Charcot-Marie-Tooth disease. 61
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Diffuse brain connectivity changes in Charcot-Marie-Tooth type 1a patients: a resting-state functional magnetic resonance imaging study. 61
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[The application of scales and characteristics of disability in the common genotypes of Charcot-Marie-Tooth disease]. 61
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Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future. 61
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New evidence for secondary axonal degeneration in demyelinating neuropathies. 61
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A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy. 61
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Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish. 61
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Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C. 61
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Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests. 61
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Genetic mechanisms of peripheral nerve disease. 61
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Sources

Variations for Tooth Disease

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ClinVar genetic disease variations for Tooth Disease:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic 523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
2 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic 523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
3 COL7A1 NM_000094.4(COL7A1):c.6205C>T SNV Pathogenic 17463 rs121912855 GRCh37: 3:48612651-48612651
GRCh38: 3:48575218-48575218
4 SCUBE3 NM_152753.4(SCUBE3):c.291C>G (p.Cys97Trp) SNV Pathogenic 981655 GRCh37: 6:35196473-35196473
GRCh38: 6:35228696-35228696
5 SCUBE3 NM_152753.4(SCUBE3):c.611G>A (p.Gly204Asp) SNV Pathogenic 981656 GRCh37: 6:35200977-35200977
GRCh38: 6:35233200-35233200
6 COL7A1 NM_000094.4(COL7A1):c.706C>T SNV Pathogenic 17462 rs121912854 GRCh37: 3:48630348-48630348
GRCh38: 3:48592915-48592915
7 MFN2 NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) SNV Pathogenic 2276 rs119103263 GRCh37: 1:12052716-12052716
GRCh38: 1:11992659-11992659
8 SCUBE3 NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter) SNV Pathogenic 981658 GRCh37: 6:35210821-35210821
GRCh38: 6:35243044-35243044
9 SCUBE3 NM_152753.4(SCUBE3):c.829+3_952+2del Deletion Pathogenic 981657 GRCh37: 6:35205795-35207650
GRCh38: 6:35238018-35239873
10 SCUBE3 NM_152753.4(SCUBE3):c.2785C>T (p.Arg929Ter) SNV Pathogenic 981662 GRCh37: 6:35214015-35214015
GRCh38: 6:35246238-35246238
11 SCUBE3 NM_152753.4(SCUBE3):c.2599+2T>C SNV Pathogenic 981661 GRCh37: 6:35213204-35213204
GRCh38: 6:35245427-35245427
12 SCUBE3 NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr) SNV Pathogenic 981660 GRCh37: 6:35213047-35213047
GRCh38: 6:35245270-35245270
13 SCUBE3 NM_152753.4(SCUBE3):c.2239+1G>A SNV Pathogenic 981659 GRCh37: 6:35211908-35211908
GRCh38: 6:35244131-35244131
14 COL17A1 NM_000494.4(COL17A1):c.4143_4144AG[1] (p.Glu1382fs) Microsatellite Pathogenic 599000 rs765243124 GRCh37: 10:105793711-105793714
GRCh38: 10:104033953-104033956
15 SATB2 NM_001172509.2(SATB2):c.1652_1653AG[1] (p.Arg552fs) Microsatellite Pathogenic 523423 rs1553544133 GRCh37: 2:200173568-200173569
GRCh38: 2:199308845-199308846
16 ADNP NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) SNV Likely pathogenic 279598 rs886041116 GRCh37: 20:49509063-49509063
GRCh38: 20:50892526-50892526
17 FLNA NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) SNV Uncertain significance 617640 rs781928289 GRCh37: X:153588145-153588145
GRCh38: X:154359777-154359777
18 MEFV NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) SNV Uncertain significance 2547 rs104895094 GRCh37: 16:3293403-3293403
GRCh38: 16:3243403-3243403
Sources

Expression for Tooth Disease

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Search GEO for disease gene expression data for Tooth Disease.
Sources

Pathways for Tooth Disease

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

# Super pathways Score Top Affiliating Genes
1
Neural Crest Differentiation 1
10.81 PMP22 MPZ GJB1
Sources

GO Terms for Tooth Disease

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

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.8 NEFL KIF1B HSPB1

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial fusion GO:0008053 8.96 MFN2 GDAP1
2 myelination GO:0042552 8.8 SBF2 MPZ EGR2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 SH3TC2 SCUBE3 SBF2 SATB2 PRMT7 PMP22
Sources

Sources for Tooth Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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