DI-2
MCID: DNT047
MIFTS: 31

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 Vitamins 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 fibrosarcoma 10.3
4 dentinogenesis imperfecta 1 10.2
5 dentinogenesis imperfecta 10.2
6 colorectal cancer 10.2
7 neuroblastoma 10.2
8 glioma 10.2
9 glial tumor 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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
2 Vitamins Phase 3
3 Retinol palmitate Phase 3
4 Soy Bean Phase 3
5 retinol Phase 3
6 Vaccines Phase 3
7 Nutrients Phase 3
8
Bisphenol A Experimental 80-05-7 6623
9 Endocrine Disruptors

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 Peridialysis Project: The Influence of Predialysis Factors on the Initial Course of Dialysis Unknown status NCT02488200
6 Soap and the Removal of Diethylhexyl Phthalate From Hands: N-of-1 and Cross-Over Designs Completed NCT02707172
7 Endocrine Disrupting Chemicals: Potential Effects on Male and Female Reproductive Health in Saskatchewan. Completed NCT02272439
8 Prevalence of High Blood Pressure in Paediatric Patients With Sleep Disorder Breathing. Reversibility After Treatment (The Kids TRIAL STUDY). Recruiting NCT03696654
9 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

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, Kidney, Lung

Publications for Dentinogenesis Imperfecta Type 2

Articles related to Dentinogenesis Imperfecta Type 2:

(show top 50) (show all 5185)
# 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
Bioremediation of di-(2-ethylhexyl) phthalate contaminated red soil by Gordonia terrae RL-JC02: Characterization, metabolic pathway and kinetics. 61
32446058 2020
8
A comprehensive analysis of metabolomics and transcriptomics reveals new biomarkers and mechanistic insights on DEHP exposures in MCF-7 cells. 61
32402870 2020
9
NDRG1 suppresses basal and hypoxia-induced autophagy at both the initiation and degradation stages and sensitizes pancreatic cancer cells to lysosomal membrane permeabilization. 61
32335136 2020
10
Uptake and toxicity of di-(2-ethylhexyl) phthalate in Brassica chinensis L. 61
32443282 2020
11
Application of a combined aggregate exposure pathway and adverse outcome pathway (AEP-AOP) approach to inform a cumulative risk assessment: A case study with phthalates. 61
32278033 2020
12
Biodegradation of phthalate esters by Paracoccus kondratievae BJQ0001 isolated from Jiuqu (Baijiu fermentation starter) and identification of the ester bond hydrolysis enzyme. 61
32268225 2020
13
Occurrence and distribution of microplastics-sorbed phthalic acid esters (PAEs) in coastal psammitic sediments of tropical Atlantic Ocean, Gulf of Guinea. 61
32416503 2020
14
Impact of ion balance in electromembrane extraction. 61
32534665 2020
15
Development and validation of a liquid chromatography/tandem mass spectrometry method to quantify metabolites of phthalates, including di-2-ethylhexyl terephthalate (DEHTP) and bisphenol A, in human urine. 61
32246863 2020
16
DEHP induces neutrophil extracellular traps formation and apoptosis in carp isolated from carp blood via promotion of ROS burst and autophagy. 61
32179220 2020
17
Metabolomic-based assessment reveals dysregulation of lipid profiles in human liver cells exposed to environmental obesogens. 61
32353385 2020
18
High-effectively degrade the di-(2-ethylhexyl) phthalate via biochemical system: Resistant bacterial flora and persulfate oxidation activated by BC@Fe3O4. 61
32443200 2020
19
Effects of fast food packaging plasticizers and their metabolites on steroid hormone synthesis in H295R cells. 61
32334352 2020
20
Hepatotoxicity study of combined exposure of DEHP and ethanol: A comprehensive analysis of transcriptomics and metabolomics. 61
32325186 2020
21
Trends for plasticizers in German freshwater environments - Evidence for the substitution of DEHP with emerging phthalate and non-phthalate alternatives. 61
32120256 2020
22
Association between phthalate exposure and asthma risk: A meta-analysis of observational studies. 61
32335495 2020
23
Mediating role of oxidative/nitrosative stress biomarkers in the associations between phthalate exposure and thyroid function in Taiwanese adults. 61
32353668 2020
24
Pollution characteristics and health risk assessment of phthalate esters in agricultural soil and vegetables in the Yangtze River Delta of China. 61
32481218 2020
25
Association of exposure to prenatal phthalate esters and bisphenol A and polymorphisms in the ESR1 gene with the second to fourth digit ratio in school-aged children: Data from the Hokkaido study. 61
32165209 2020
26
In-utero Exposure to Low Doses of Genistein and Di-(2-ethylhexyl) Phthalate (DEHP) Alters Innate Immune Cells in Neonatal and Adult Rat Testis. 61
32533902 2020
27
Histopathologic, apoptotic and autophagic, effects of prenatal bisphenol A and/or di(2-ethylhexyl) phthalate exposure on prepubertal rat testis. 61
32239407 2020
28
Urinary Concentrations of Phthalate Metabolite Mixtures in Relation to Serum Biomarkers of Thyroid Function and Autoimmunity among Women from a Fertility Center. 61
32515996 2020
29
Effect of di(2-ethylhexyl) phthalate on Nrf2-regulated glutathione homeostasis in mouse kidney. 61
32500380 2020
30
Correction to: Responses of Microbial Community to Di-(2-ethylhcxyl) Phthalate Contamination in Brown Soil. 61
32561950 2020
31
Responses of Microbial Community to Di-(2-ethylhcxyl) Phthalate Contamination in Brown Soil. 61
32424434 2020
32
Palladium(II) and Platinum(II) Mononuclear Complexes and Tendency to Undergo Dehydrogenation of the Multiple N-Donor Ligand Di-(2-pyridyl)dihydropyrazine. 61
32515953 2020
33
Effects of intravenous and oral di(2-ethylhexyl) phthalate (DEHP) and 20% Intralipid vehicle on neonatal rat testis, lung, liver, and kidney. 61
32540476 2020
34
Structural, spectroscopic and electronic properties of a family of face-shared bi-octahedral Ru25+/6+ complexes with a bridging 2,5-di(2-pyridyl)pyrrolide ligand. 61
32400777 2020
35
Di-(2-ethylhexyl) phthalate induced nephrotoxicity in quail (Coturnix japonica) by triggering nuclear xenobiotic receptors and modulating the cytochrome P450 system. 61
32078881 2020
36
Enhanced biodegradation of an endocrine disrupting micro-pollutant: Di (2-ethylhexyl) phthalate using biogenic self-assembled monolayer of silver nanoparticles. 61
32105999 2020
37
Gut microbiota dysbiosis might be responsible to different toxicity caused by Di-(2-ethylhexyl) phthalate exposure in murine rodents. 61
32088434 2020
38
Redox cycling of copper by coumarin-di(2-picolyl)amine hybrid molecule leads to ROS-mediated modulation of redox scavengers, DNA damage and cell death in diethylnitrosamine induced hepatocellular carcinoma. 61
32276135 2020
39
The c-MET oncoprotein: Function, mechanisms of degradation and its targeting by novel anti-cancer agents. 61
32522525 2020
40
The phthalate DEHP modulates the estrogen receptors α and β increasing lactotroph cell population in female pituitary glands. 61
32559490 2020
41
Pollution characteristics, spatial variation, and potential risks of phthalate esters in the water-sediment system of the Yangtze River estuary and its adjacent East China Sea. 61
32531649 2020
42
Quorum sensing mediated response of Achromobacter denitrificans SP1 towards prodigiosin production under phthalate stress. 61
32573013 2020
43
National screening study investigating nine phthalates and one adipate in raw and treated tap water in France. 61
32556996 2020
44
Phthalate exposure causes browning-like effects on adipocytes in vitro and in vivo. 61
32522588 2020
45
Spatial distribution of phthalate esters and the associated response of enzyme activities and microbial community composition in typical plastic-shed vegetable soils in China. 61
32213368 2020
46
Spatial distribution of phthalate acid esters in sediments and its relationships with anthropogenic activities and environmental variables of the Jiaozhou Bay. 61
32310100 2020
47
Polypyridyl-Based Copper Phenanthrene Complexes: Combining Stability with Enhanced DNA Recognition. 61
32519773 2020
48
Dp44mT, an iron chelator, suppresses growth and induces apoptosis via RORA-mediated NDRG2-IL6/JAK2/STAT3 signaling in glioma. 61
32207044 2020
49
Phthalates levels in olive oils and olive pomace oils marketed in Turkey. 61
32496879 2020
50
Presence, distribution and risk assessment of phthalic acid esters (PAEs) in suburban plastic film pepper-growing greenhouses with different service life. 61
32244120 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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