DI-2
MCID: DNT047
MIFTS: 34

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 53 59
Dentinogenesis Imperfecta, Shields Type 2 53 59
Capdepont Teeth 53 59
Dgi-2 53 59
Di-2 53 59
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 72
Opalescent Dentin 72

Characteristics:

Orphanet epidemiological data:

59
dentinogenesis imperfecta type 2
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

ICD10 via Orphanet 34 K00.5
UMLS via Orphanet 73 C2973527
Orphanet 59 ORPHA166260
UMLS 72 C2973527 C4049050

Summaries for Dentinogenesis Imperfecta Type 2

NIH Rare Diseases : 53 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
Dentinogenesis Imperfecta Type 3 Rare Disease with Dentinogenesis Imperfecta

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

(show all 11)
# 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 leukemia, b-cell, chronic 10.3
7 glial tumor 10.3
8 dentinogenesis imperfecta 1 10.2
9 dentinogenesis imperfecta 10.2
10 colorectal cancer 10.1
11 neuroblastoma 1 10.1

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 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
2 Micronutrients Phase 3
3 Trace Elements Phase 3
4 Antioxidants Phase 3
5 Soy Bean Phase 3
6 Vitamins Phase 3
7 retinol Phase 3
8 Retinol palmitate Phase 3
9 Protective Agents Phase 3
10 Nutrients Phase 3
11 Vaccines Phase 3
12 Immunologic Factors 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:

41
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 4900)
# 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. 71
22392858 2012
2
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. 71
18456718 2008
3
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. 71
15592686 2005
4
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. 71
14758537 2004
5
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. 71
11175790 2001
6
DSPP mutation in dentinogenesis imperfecta Shields type II. 71
11175779 2001
7
Di-(2-ethylhexyl)-phthalate interferes with T-follicular helper cell differentiation and cytokine secretion through signaling lymphocytic activation molecule family member-1. 38
31403359 2019
8
Endoplasmic reticulum stress, a novel significant mechanism responsible for DEHP-induced increased distance between seminiferous tubule of mouse testis. 38
30989653 2019
9
Metabolites of phosphate flame retardants and alternative plasticizers in urine from intensive care patients. 38
31200129 2019
10
Phthalate esters (PAEs) in atmospheric particles around a large shallow natural lake (Lake Chaohu, China). 38
31207519 2019
11
Development of a liquid chromatography-quadrupole-time-of-flight-mass spectrometry based method for the targeted and suspect screening of contaminants in the pearl oyster Pinctada imbricata radiata. 38
31349193 2019
12
Seasonal modification of the associations of exposure to polycyclic aromatic hydrocarbons or phthalates of cellular aging. 38
31272023 2019
13
Di-(2-ethylhexyl)-phthalate induces apoptosis via the PPARĪ³/PTEN/AKT pathway in differentiated human embryonic stem cells. 38
31163220 2019
14
Di (2-ethylhexyl) phthalate induces cytotoxicity in HEK-293 cell line, implication of the Nrf-2/HO-1 antioxidant pathway. 38
31112013 2019
15
The effect of preconceptional exposure of F0 male mice to di(2-ethylhexyl)phthalate on the induction of reproductive toxicity in F2 generation. 38
30198343 2019
16
An Antagonism Joint Action of Lead and Di-2-Ethylhexyl Phthalate Explains an Improved Ability of Learning and Memory after Combined Exposure in Weaning Rats. 38
30523571 2019
17
Development of a screening method for phthalate esters in polymers using a quantitative database in combination with pyrolyzer/thermal desorption gas chromatography mass spectrometry. 38
31230877 2019
18
Phthalates in infant cotton clothing: Occurrence and implications for human exposure. 38
31129321 2019
19
Screening and prioritization of chemical hazards for deriving human health ambient water quality criteria in China. 38
31154168 2019
20
The metastasis suppressor, NDRG1, differentially modulates the endoplasmic reticulum stress response. 38
30981813 2019
21
Phthalate exposure and female reproductive and developmental outcomes: a systematic review of the human epidemiological evidence. 38
31351310 2019
22
Icariin protects mouse Leydig cell testosterone synthesis from the adverse effects of di(2-ethylhexyl) phthalate. 38
31175881 2019
23
Exposure to di-(2-ethylhexyl) phthalate transgenerationally alters anxiety-like behavior and amygdala gene expression in adult male and female mice. 38
31022410 2019
24
Early life exposure to di(2-ethylhexyl)phthalate causes age-related declines associated with insulin/IGF-1-like signaling pathway and SKN-1 in Caenorhabditis elegans. 38
31234252 2019
25
Effect of biochars on the bioavailability of cadmium and di-(2-ethylhexyl) phthalate to Brassica chinensis L. in contaminated soils. 38
31075602 2019
26
Di (2-ethyl hexyl) phthalate (DEHP)-induced spleen toxicity in quail (Coturnix japonica) via disturbing Nrf2-mediated defense response. 38
31234266 2019
27
Biodegradation of Structurally Diverse Phthalate Esters by a Newly Identified Esterase with Catalytic Activity toward Di(2-ethylhexyl) Phthalate. 38
31266305 2019
28
Determination of human urinary metabolites of the plasticizer di(2-ethylhexyl) adipate (DEHA) by online-SPE-HPLC-MS/MS. 38
31233945 2019
29
Di-(2-ethylhexyl) phthalate (DEHP)-induced hepatotoxicity in quail (Coturnix japonica) via suppression of the heat shock response. 38
31063915 2019
30
Simultaneous quantitative detection of 10 phthalates in PVC children's toys by HPLC-PDA. 38
31364916 2019
31
Chemical-genetic interaction landscape of mono-(2-ethylhexyl)-phthalate using chemogenomic profiling in yeast. 38
31029968 2019
32
Evaluation of the airborne pollution by emerging contaminants using bitter orange (Citrus aurantium) tree leaves as biosamplers. 38
31063891 2019
33
Post-aerobic treatment to enhance the removal of conventional and emerging micropollutants in the digestion of waste sludge. 38
31376968 2019
34
High-Efficiency Single-Component Organic Light-Emitting Transistors. 38
31379034 2019
35
Retinol binding protein 4 mediates MEHP-induced glucometabolic abnormalities in HepG2 cells. 38
31228551 2019
36
Prenatal bisphenol a and phthalate exposure are risk factors for male reproductive system development and cord blood sex hormone levels. 38
31170452 2019
37
Identification of oxidative stress-related Xdh gene as a di(2-ethylhexyl)phthalate (DEHP) target and the use of melatonin to alleviate the DEHP-induced impairments in newborn mouse ovaries. 38
30938853 2019
38
Distribution of five SVOCs in a model room: effect of vacuuming and air cleaning measures. 38
31070628 2019
39
Emissions of DEHP from vehicle cabin materials: parameter determination, impact factors and exposure analysis. 38
31289797 2019
40
Reactivity of Zinc Thiolate Bonds: Oxidative Organopolysulfide Formation and S3 Insertion. 38
31247870 2019
41
Seminal plasma metabolome in relation to semen quality and urinary phthalate metabolites among Chinese adult men. 38
31150977 2019
42
Phthalate-associated hypertension in premature infants: a prospective mechanistic cohort study. 38
31028470 2019
43
Ultra-processed food consumption and exposure to phthalates and bisphenols in the US National Health and Nutrition Examination Survey, 2013-2014. 38
31398592 2019
44
Urinary levels of phthalate metabolites and their association with lifestyle behaviors in Chinese adolescents and young adults. 38
31419700 2019
45
Determination of selected dichloroanilines and phthalates in lyophilised mussels samples with ultra-high performance liquid chromatography-tandem mass spectrometry after QuEChERS clean-up. 38
31161889 2019
46
Contribution of phthalates and phthalate monoesters from drinking water to daily intakes for the general population. 38
31078027 2019
47
Environmental phthalate exposure and preterm birth in the PROTECT birth cohort. 38
31430608 2019
48
Degradation of phthalate esters in floor dust at elevated relative humidity. 38
30944918 2019
49
Changes in insulin resistance mediate the associations between phthalate exposure and metabolic syndrome. 38
31158561 2019
50
Host-Guest Feature of DPPP Bridged Arene-Ruthenium Clip Derived Molecular Rectangle. 38
31365239 2019

Variations for Dentinogenesis Imperfecta Type 2

ClinVar genetic disease variations for Dentinogenesis Imperfecta Type 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DSPP NM_014208.3(DSPP): c.133C> T (p.Gln45Ter) single nucleotide variant Pathogenic rs121912985 4:88533338-88533338 4:87612186-87612186
2 DSPP NM_014208.3(DSPP): c.135+1G> A single nucleotide variant Pathogenic 4:88533341-88533341 4:87612189-87612189
3 DSPP NM_014208.3(DSPP): c.52G> T (p.Val18Phe) single nucleotide variant Pathogenic rs121912987 4:88533257-88533257 4:87612105-87612105
4 DSPP NM_014208.3(DSPP): c.44C> T (p.Ala15Val) single nucleotide variant Pathogenic rs121912989 4:88532104-88532104 4:87610952-87610952
5 DSPP NM_014208.3(DSPP): c.3438del (p.Asp1146fs) deletion Pathogenic 4:88537252-88537252 4:87616100-87616100
6 DSPP NM_014208.3(DSPP): c.202A> T (p.Arg68Trp) single nucleotide variant Benign/Likely benign 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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