DI-2
MCID: DNT047
MIFTS: 33

Dentinogenesis Imperfecta Type 2 (DI-2)

Categories: Bone diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dentinogenesis Imperfecta Type 2

MalaCards integrated aliases for Dentinogenesis Imperfecta Type 2:

Name: Dentinogenesis Imperfecta Type 2 52 58
Dentinogenesis Imperfecta, Shields Type 2 52 58
Capdepont Teeth 52 58
Dgi-2 52 58
Di-2 52 58
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 71
Opalescent Dentin 71

Characteristics:

Orphanet epidemiological data:

58
dentinogenesis imperfecta type 2
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 72 C2973527
Orphanet 58 ORPHA166260
UMLS 71 C2973527 C4049050

Summaries for Dentinogenesis Imperfecta Type 2

NIH Rare Diseases : 52 Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta , a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people. Dentinogenesis imperfecta type 2 is caused by changes (mutations ) in the DSPP gene and is inherited in an autosomal dominant manner. Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.

MalaCards based summary : Dentinogenesis Imperfecta Type 2, also known as dentinogenesis imperfecta, shields type 2, is related to dentin dysplasia, type ii and leukemia, chronic lymphocytic. An important gene associated with Dentinogenesis Imperfecta Type 2 is DSPP (Dentin Sialophosphoprotein). The drugs Vitamin A and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and testis.

Related Diseases for Dentinogenesis Imperfecta Type 2

Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta 1 Dentinogenesis Imperfecta Type 2
Rare Disease with Dentinogenesis Imperfecta

Diseases related to Dentinogenesis Imperfecta Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dentin dysplasia, type ii 11.4
2 leukemia, chronic lymphocytic 10.3
3 lymphocytic leukemia 10.3
4 fibrosarcoma 10.3
5 glioma 10.3
6 glial tumor 10.3
7 dentinogenesis imperfecta 1 10.2
8 dentinogenesis imperfecta 10.2
9 colorectal cancer 10.2
10 neuroblastoma 10.2

Graphical network of the top 20 diseases related to Dentinogenesis Imperfecta Type 2:



Diseases related to Dentinogenesis Imperfecta Type 2

Symptoms & Phenotypes for Dentinogenesis Imperfecta Type 2

Drugs & Therapeutics for Dentinogenesis Imperfecta Type 2

Drugs for Dentinogenesis Imperfecta Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
2 Micronutrients Phase 3
3 Immunologic Factors Phase 3
4 Vitamins Phase 3
5 Trace Elements Phase 3
6 Nutrients Phase 3
7 retinol Phase 3
8 Antioxidants Phase 3
9 Retinol palmitate Phase 3
10 Vaccines Phase 3
11 Protective Agents Phase 3
12 Soy Bean Phase 3
13 Endocrine Disruptors
14
Bisphenol A 80-05-7 6623

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Two-centre, Randomised, Single-blind, Parallel Group Controlled Trial, Testing the Growth Promoting Effect of Long-term Complementary Feeding of Infants With Different Doses and Formulations of Lipid-based Nutrient Supplements (LNS) Completed NCT00945698 Phase 3
2 Tipepidine in Children With Attention Deficit/Hyperactivity Disorder (AD/HD): a Double-blind, Placebo-controlled Trial Completed NCT02305134 Phase 1, Phase 2 Tipepidine Hibenzate;Placebo
3 Gait Training Associated With Executive Functions Tasks in Subjects With Parkinson´s Disease: A Study Protocol Unknown status NCT01650610
4 Gait Training Associated With Executive Functions Tasks in Subjects With Parkinson´s Disease: A Randomised Controlled Trial Unknown status NCT01650623
5 Soap and the Removal of Diethylhexyl Phthalate From Hands: N-of-1 and Cross-Over Designs Completed NCT02707172
6 Endocrine Disrupting Chemicals: Potential Effects on Male and Female Reproductive Health in Saskatchewan. Completed NCT02272439
7 Peridialysis Project: The Influence of Predialysis Factors on the Initial Course of Dialysis Recruiting NCT02488200
8 Exploring the Association Between Phthalates Exposure, Measured Through Their Urinary Metabolites, and Renal Function Impairment in Individuals With TYpe 2 Diabetes - Protocol 2 Not yet recruiting NCT03622957
9 Prevalence of High Blood Pressure in Paediatric Patients With Sleep Disorder Breathing. Reversibility After Treatment (The Kids TRIAL STUDY). Not yet recruiting NCT03696654

Search NIH Clinical Center for Dentinogenesis Imperfecta Type 2

Genetic Tests for Dentinogenesis Imperfecta Type 2

Anatomical Context for Dentinogenesis Imperfecta Type 2

MalaCards organs/tissues related to Dentinogenesis Imperfecta Type 2:

40
Liver, Testes, Testis, Thyroid, Brain, Lung, Kidney

Publications for Dentinogenesis Imperfecta Type 2

Articles related to Dentinogenesis Imperfecta Type 2:

(show top 50) (show all 5051)
# Title Authors PMID Year
1
Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP. 6
22392858 2012
2
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. 6
18456718 2008
3
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. 6
15592686 2005
4
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. 6
14758537 2004
5
DSPP mutation in dentinogenesis imperfecta Shields type II. 6
11175779 2001
6
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. 6
11175790 2001
7
A green and simple procedure based on deep eutectic solvents for the extraction of phthalates from beverages. 61
31887621 2020
8
Urinary levels of phthalates and DINCH metabolites in Korean and Thai pregnant women across three trimesters. 61
31818591 2020
9
Di-(2-ethyl hexyl) phthalate induces necroptosis in chicken cardiomyocytes by triggering calcium overload. 61
31889598 2020
10
Glutathione peroxidase 6 from Arabidopsis thaliana as potential biomarker for plants exposure assessment to di-(2-ethylhexyl) phthalate. 61
31887676 2020
11
Metabolism and urinary excretion kinetics of di(2-ethylhexyl) adipate (DEHA) in four human volunteers after a single oral dose. 61
31816331 2020
12
Occurrence and human health risks of phthalates in indoor air of laboratories. 61
31771853 2020
13
A novel safety treatment strategy of DEHP-rich flexible polyvinyl chloride waste through low-temperature critical aqueous ammonia treatment. 61
31785902 2020
14
An automated in-syringe switchable hydrophilicity solvent-based microextraction. 61
31892021 2020
15
Prenatal low-dose DEHP exposure induces metabolic adaptation and obesity: Role of hepatic thiamine metabolism. 61
31706747 2020
16
Associations of urinary di-(2-ethylhexyl) phthalate metabolites with the residential characteristics of pregnant women. 61
31780177 2020
17
Phthalate exposure increased the risk of early renal impairment in Taiwanese without type 2 diabetes mellitus. 61
31784327 2020
18
Effects of the environmental endocrine disruptors di-2-ethylhexyl phthalate and mono-2-ethylhexyl phthalate on human sperm function invitro. 61
32027815 2020
19
Probing the molecular toxic mechanism of di-(2-ethylhexyl) phthalate with glutathione transferase Phi8 from Arabidopsis thaliana. 61
31863837 2020
20
Synergistic utilization of inherent halides and alcohols in hydraulic fracturing wastewater for radical-based treatment: A case study of di-(2-ethylhexyl) phthalate removal. 61
31655386 2020
21
Improving Tumor-to-Background Contrast Through Hydrophilic Tetrazines: The Construction of 18F Labeled PET Agents Targeting Non-Small Cell Lung Carcinoma. 61
32030822 2020
22
Associations of urinary phthalate metabolites with risk of papillary thyroid cancer. 61
31629241 2020
23
The endocrine disruptor DEHP and the ECS: analysis of a possible crosstalk. 61
31910153 2020
24
Fate of Phthalic Acid Esters (PAEs) in Typical Greenhouse Soils of Different Cultivation Ages. 61
31784767 2020
25
Pollutants delivered every day: Phthalates in plastic express packaging bags and their leaching potential. 61
31581015 2020
26
Leaching and purification of indium from waste liquid crystal display panel after hydrothermal pretreatment: Optimum conditions determination and kinetic analysis. 61
31785523 2020
27
Pyrroloquinoline quinone protected autophagy-dependent apoptosis induced by mono(2-ethylhexyl) phthalate in INS-1 cells. 61
31661991 2020
28
Nanoscale crystallization of a low band gap polymer in printed titania mesopores. 61
32022062 2020
29
Trends and Patterns of Phthalates and Phthalate Alternatives Exposure in Pregnant Women from Mexico City during 2007-2010. 61
31944681 2020
30
Exposure to DEHP or its metabolite MEHP promotes progesterone secretion and inhibits proliferation in mouse placenta or JEG-3 cells. 61
31771930 2020
31
Ecological risk assessment of fifty pharmaceuticals and personal care products (PPCPs) in Chinese surface waters: A proposed multiple-level system. 61
32032889 2020
32
Knockdown of TNFAIP1 prevents di-(2-ethylhexyl) phthalate-induced neurotoxicity by activating CREB pathway. 61
31683445 2020
33
Chemical constituents of Streptomyces sp. strain Al-Dhabi-97 isolated from the marine region of Saudi Arabia with antibacterial and anticancer properties. 61
31585801 2020
34
Phthalate exposure and prostate cancer in a population-based nested case-control study. 61
31785779 2020
35
Protective effect of alpha-lipoic acid on di-(2-ethylhexyl) phthalate-induced testicular toxicity in mice. 61
32030592 2020
36
Di-2-ethylhexyl phthalate (DEHP) induces apoptosis and autophagy of mouse GC-1 spg cells. 61
31675140 2020
37
Europium(III) Macrocyclic Chelates Appended with Tyrosine-based Chromophores and Di-(2-picolyl)amine-based Receptors: Turn-On Luminescent Chemosensors Selective to Zinc(II) Ions. 61
31967740 2020
38
Late-life consequences of short-term exposure to di(2-ethylhexyl) phthalate and diisononyl phthalate during adulthood in female mice. 61
31904422 2020
39
Exposure of patients to di(2-ethylhexy)phthalate (DEHP) and its metabolite MEHP during extracorporeal membrane oxygenation (ECMO) therapy. 61
31999712 2020
40
Di(2-ethylhexyl) phthalate inhibits glutathione regeneration and dehydrogenases of the pentose phosphate pathway on human colon carcinoma cells. 61
31848848 2020
41
Increased m6A RNA modification is related to the inhibition of the Nrf2-mediated antioxidant response in di-(2-ethylhexyl) phthalate-induced prepubertal testicular injury. 61
31923814 2020
42
Di (2-ethylhexyl) phthalate targets the thioredoxin system and the oxidative branch of the pentose phosphate pathway in liver of Balb/c mice. 61
31486570 2020
43
A cyclometalated trinuclear Ir(iii)/Pt(ii) complex as a luminescent probe for histidine-rich proteins. 61
31967143 2020
44
Backbone Structure Effect on the Thermoelectric Properties of IDT-Based p-Type Conjugated Polymers. 61
31531908 2020
45
Reduction of exposure to plasticizers in stored red blood cell units. 61
31146632 2020
46
Plasticizer migration from children's toys, child care articles, art materials, and school supplies. 61
31917999 2020
47
A miniature stainless steel net dumbbell-shaped stir-bar for the extraction of phthalate esters in instant noodle and rice soup samples. 61
31971076 2020
48
Aryl Hydrocarbon Receptor as a target for lycopene preventing DEHP-induced spermatogenic disorders. 61
31971381 2020
49
Poly(ε-Caprolactone)/Poly(Lactic Acid) Blends Compatibilized by Peroxide Initiators: Comparison of Two Strategies. 61
31963365 2020
50
Determinants and characterization of exposure to phthalates, DEHTP and DINCH among pregnant women in the PROTECT birth cohort in Puerto Rico. 61
31481681 2020

Variations for Dentinogenesis Imperfecta Type 2

ClinVar genetic disease variations for Dentinogenesis Imperfecta Type 2:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSPP NM_014208.3(DSPP):c.133C>T (p.Gln45Ter)SNV Pathogenic 16853 rs121912985 4:88533338-88533338 4:87612186-87612186
2 DSPP NM_014208.3(DSPP):c.135+1G>ASNV Pathogenic 16854 rs1560477489 4:88533341-88533341 4:87612189-87612189
3 DSPP NM_014208.3(DSPP):c.52G>T (p.Val18Phe)SNV Pathogenic 16856 rs121912987 4:88533257-88533257 4:87612105-87612105
4 DSPP NM_014208.3(DSPP):c.44C>T (p.Ala15Val)SNV Pathogenic 16859 rs121912989 4:88532104-88532104 4:87610952-87610952
5 DSPP NM_014208.3(DSPP):c.3438del (p.Asp1146fs)deletion Pathogenic 16861 rs1560480632 4:88537252-88537252 4:87616100-87616100
6 DSPP NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)SNV Benign/Likely benign 16858 rs36094464 4:88533540-88533540 4:87612388-87612388

Expression for Dentinogenesis Imperfecta Type 2

Search GEO for disease gene expression data for Dentinogenesis Imperfecta Type 2.

Pathways for Dentinogenesis Imperfecta Type 2

GO Terms for Dentinogenesis Imperfecta Type 2

Sources for Dentinogenesis Imperfecta Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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