DI-2
MCID: DNT047
MIFTS: 35

Dentinogenesis Imperfecta Type 2 (DI-2)

Categories: Bone diseases, Ear 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 20 58 6
Dentinogenesis Imperfecta, Shields Type 2 20 58
Capdepont Teeth 20 58
Dgi-2 20 58
Di-2 20 58
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 70
Opalescent Dentin 70

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 71 C2973527
Orphanet 58 ORPHA166260
UMLS 70 C2973527 C4049050

Summaries for Dentinogenesis Imperfecta Type 2

GARD : 20 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 ectodermal dysplasia-syndactyly syndrome 2. An important gene associated with Dentinogenesis Imperfecta Type 2 is DSPP (Dentin Sialophosphoprotein). The drugs Paclitaxel and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include testis, pituitary and ovary.

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:

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 dentin dysplasia, type ii 11.2
2 ectodermal dysplasia-syndactyly syndrome 2 10.3
3 dentinogenesis imperfecta 1 10.1
4 dentinogenesis imperfecta 10.1
5 dermatitis, atopic 10.1
6 neuroblastoma 10.1
7 exencephaly 10.1
8 body mass index quantitative trait locus 11 10.1
9 body mass index quantitative trait locus 9 10.1
10 body mass index quantitative trait locus 8 10.1
11 body mass index quantitative trait locus 4 10.1
12 body mass index quantitative trait locus 10 10.1
13 body mass index quantitative trait locus 7 10.1
14 body mass index quantitative trait locus 12 10.1
15 body mass index quantitative trait locus 14 10.1
16 body mass index quantitative trait locus 18 10.1
17 body mass index quantitative trait locus 19 10.1
18 dermatitis 10.1
19 endometriosis 10.1
20 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.0
21 neural tube defects 10.0
22 autism 10.0
23 anxiety 10.0
24 atherosclerosis susceptibility 10.0
25 type 2 diabetes mellitus 10.0
26 leukemia, chronic lymphocytic 10.0
27 asthma 10.0
28 autism spectrum disorder 10.0
29 hypospadias 10.0
30 cholestasis 10.0
31 testicular disease 10.0
32 lipid metabolism disorder 10.0
33 rhinitis 10.0
34 infertility 10.0
35 adenoma 10.0
36 diabetes mellitus 10.0
37 fatty liver disease 10.0
38 precocious puberty 10.0
39 hepatocellular carcinoma 9.9
40 fibrosis of extraocular muscles, congenital, 1 9.9
41 ige responsiveness, atopic 9.9
42 papillomatosis, confluent and reticulated 9.9
43 triiodothyronine receptor auxiliary protein 9.9
44 cryptorchidism, unilateral or bilateral 9.9
45 body mass index quantitative trait locus 1 9.9
46 allergic rhinitis 9.9
47 ovarian disease 9.9
48 male infertility 9.9
49 urticaria 9.9
50 fibrosarcoma 9.9

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
2
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
3 Antimitotic Agents Phase 2
4 Albumin-Bound Paclitaxel Phase 2
5 Tubulin Modulators Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective, Multi-center, Single-arm Clinical Study of Sintilimab Injection Combined With Concurrent Radiotherapy and Chemotherapy in the Treatment of Locally Advanced Esophageal Squamous Cell Carcinoma (IMCORT) Recruiting NCT04602013 Phase 2 Sintilimab;Chemotherapy

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
Testis, Pituitary, Ovary, Testes, Lung, Endothelial, Cortex

Publications for Dentinogenesis Imperfecta Type 2

Articles related to Dentinogenesis Imperfecta Type 2:

(show top 50) (show all 5443)
# 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
A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. 6
19131317 2009
3
Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. 6
18456718 2008
4
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. 6
15592686 2005
5
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. 6
14758537 2004
6
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. 6
11175790 2001
7
DSPP mutation in dentinogenesis imperfecta Shields type II. 6
11175779 2001
8
Occurrence of common plastic additives and contaminants in mussel samples: Validation of analytical method based on matrix solid-phase dispersion. 61
33548886 2021
9
Maternal phthalate urine concentrations, fetal growth and adverse birth outcomes. A population-based prospective cohort study. 61
33610054 2021
10
Parental preconception exposure to phenol and phthalate mixtures and the risk of preterm birth. 61
33640694 2021
11
Facilitating effect of heavy metals on di(2-ethylhexyl) phthalate adsorption in soil: New evidence from adsorption experiment data and quantum chemical simulation. 61
33581542 2021
12
Rapidly degradation of di-(2-ethylhexyl) phthalate by Z-scheme Bi2O3/TiO2@reduced graphene oxide driven by simulated solar radiation. 61
33485039 2021
13
Estimating the risks from phthalate esters and metal(loid)s in cultivated edible fungi from Jingmen, Central China. 61
33493846 2021
14
Insights into mechanisms involved in the uptake, translocation, and metabolism of phthalate esters in Chinese cabbage (Brassica rapa var. chinensis). 61
33736326 2021
15
Exposure to mono (2-ethylhexyl) phthalate facilitates apoptosis and pyroptosis of human endometrial microvascular endothelial cells through NLRP3 inflammasome. 61
33159713 2021
16
Exposure to phthalates DEHP and DINP May lead to oxidative damage and lipidomic disruptions in mouse kidney. 61
33736212 2021
17
Contaminant occurrence, mobility and ecological risk assessment of phthalate esters in the sediment-water system of the Hangzhou Bay. 61
33736359 2021
18
Fe-Mn oxide modified biochar decreases phthalate uptake and improves grain quality of wheat grown in phthalate-contaminated fluvo-aquic soil. 61
33388501 2021
19
Urinary phthalate metabolites and alternatives and serum sex steroid hormones among pre- and postmenopausal women from NHANES, 2013-16. 61
33493905 2021
20
Biomarkers of phthalates and alternative plasticizers in the Flemish Environment and Health Study (FLEHS IV): Time trends and exposure assessment. 61
33631684 2021
21
Concentrations of organic contaminants in industrial and municipal bioresources recycled in agriculture in the UK. 61
33246727 2021
22
Activation of forkhead box O3a by mono(2-ethylhexyl)phthalate and its role in protection against mono(2-ethylhexyl)phthalate-induced oxidative stress and apoptosis in human cardiomyocytes. 61
33029813 2021
23
The Effect of Orthognathic Surgery on Temporomandibular Joint Function and Symptoms: What are the Risk Factors? A Longitudinal Analysis of 375 Patients. 61
33285107 2021
24
Combined cytotoxicity of polystyrene nanoplastics and phthalate esters on human lung epithelial A549 cells and its mechanism. 61
33601174 2021
25
Novel insights into di‑(2‑ethylhexyl)phthalate activation: Implications for the hypothalamus‑pituitary‑thyroid axis. 61
33649816 2021
26
Distributions, temporal trends and ecological risks of polyethylene terephthalate (PET) and di-(2-ethylhexyl) phthalate (DEHP) in sediments of Jiaozhou Bay, China. 61
33621904 2021
27
Potential health risks of maternal phthalate exposure during the first trimester - The Saudi Early Autism and Environment Study (SEAES). 61
33621597 2021
28
Occurrence, migration and health risk of phthalates in tap water, barreled water and bottled water in Tianjin, China. 61
33360700 2021
29
Contamination and historical trends of legacy and emerging plasticizers in sediment from highly industrialized bays of Korea. 61
33071113 2021
30
Occurrence, health risks and soil-air exchange of phthalate acid esters: A case study in plastic film greenhouses of Chongqing, China. 61
33189390 2021
31
Inhalation of two Prop 65-listed chemicals within vehicles may be associated with increased cancer risk. 61
33524670 2021
32
Steric and Electronic Effects on the Structure and Photophysical Properties of Hg(II) Complexes. 61
33629838 2021
33
Effects of phthalates on the functions and fertility of mouse spermatozoa. 61
33711355 2021
34
Moringa oleifera Protects SH-SY5YCells from DEHP-Induced Endoplasmic Reticulum Stress and Apoptosis. 61
33805396 2021
35
Novel Multifunctional Samarium-Organic Framework for Fluorescence Sensing of Ag+, MnO4-, and Cimetidine and Electrochemical Sensing of o-Nitrophenol in Aqueous Solutions. 61
33748594 2021
36
Seasonal Occurrences and Risk Assessment of Phthalate Esters in Sediment, Water and Biota of Two Sub-Saharan Rivers. 61
33751145 2021
37
Dp44mT regulates the levels of inflammatory mediators through blocking NF-κB nuclear translocation in LPS-stimulated RAW 264.7 macrophages. 61
33594608 2021
38
A critical review on human internal exposure of phthalate metabolites and the associated health risks. 61
33756240 2021
39
Reproductive toxic potential of phthalate compounds - State of art review. 61
33677105 2021
40
Associations of prenatal exposure to phthalates with measures of cognition in 7.5-month-old infants. 61
33705789 2021
41
Additive and High-Temperature Processing Boost the Photovoltaic Performance of Nonfullerene Organic Solar Cells Fabricated with Blade Coating and Nonhalogenated Solvents. 61
33605134 2021
42
DEHP Down-Regulates Tshr Gene Expression in Rat Thyroid Tissues and FRTL-5 Rat Thyrocytes: A Potential Mechanism of Thyroid Disruption. 61
33789034 2021
43
Nanoscale Affinity Double Layer Overcomes the Poor Antimatrix Interference Capability of Aptamers. 61
33620193 2021
44
Multiple bioanalytical methods reveal a thyroid-disrupting mechanism related to the membrane receptor integrin αvβ3. 61
33773180 2021
45
Levels and determinants of urinary phthalate metabolites in Chinese community-dwelling older adults. 61
33360337 2021
46
DEHP-elicited small extracellular vesicles miR-26a-5p promoted metastasis in nearby normal A549 cells. 61
33229049 2021
47
Multiple transcriptomic profiling: p53 signaling pathway is involved in DEHP-induced prepubertal testicular injury via promoting cell apoptosis and inhibiting cell proliferation of Leydig cells. 61
33162236 2021
48
Characteristics of dust-phase phthalates in dormitory, classroom, and home and non-dietary exposure in Beijing, China. 61
33725303 2021
49
Sensitive monitoring of the main metabolites of tri-(2-ethylhexyl) trimellitate (TOTM) in urine by coupling of on-line SPE, UHPLC and tandem mass spectrometry. 61
33735807 2021
50
Associations of gestational phthalate exposure and non-nutritive suck among infants from the Puerto Rico Testsite for Exploring Contamination Threats (PROTECT) birth cohort study. 61
33740674 2021

Variations for Dentinogenesis Imperfecta Type 2

ClinVar genetic disease variations for Dentinogenesis Imperfecta Type 2:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSPP NM_014208.3(DSPP):c.3742_3743insTAGTAGTG (p.Asn1248fs) Insertion Pathogenic 997545 GRCh37: 4:88537556-88537557
GRCh38: 4:87616404-87616405
2 DSPP NM_014208.3(DSPP):c.3262del (p.Ser1088fs) Deletion Pathogenic 1029257 GRCh37: 4:88537076-88537076
GRCh38: 4:87615924-87615924
3 DSPP NM_014208.3(DSPP):c.44C>T (p.Ala15Val) SNV Pathogenic 16859 rs121912989 GRCh37: 4:88532104-88532104
GRCh38: 4:87610952-87610952
4 DSPP NM_014208.3(DSPP):c.3438del (p.Asp1146fs) Deletion Pathogenic 16861 rs1560480632 GRCh37: 4:88537252-88537252
GRCh38: 4:87616100-87616100
5 DSPP NM_014208.3(DSPP):c.53T>G (p.Val18Gly) SNV Pathogenic 996079 GRCh37: 4:88533258-88533258
GRCh38: 4:87612106-87612106
6 DSPP NM_014208.3(DSPP):c.52G>T (p.Val18Phe) SNV Pathogenic 16856 rs121912987 GRCh37: 4:88533257-88533257
GRCh38: 4:87612105-87612105
7 DSPP NM_014208.3(DSPP):c.135+1G>A SNV Pathogenic 16854 rs1560477489 GRCh37: 4:88533341-88533341
GRCh38: 4:87612189-87612189
8 DSPP NM_014208.3(DSPP):c.133C>T (p.Gln45Ter) SNV Pathogenic 16853 rs121912985 GRCh37: 4:88533338-88533338
GRCh38: 4:87612186-87612186
9 DSPP NM_014208.3(DSPP):c.3248_3249insC (p.Glu1083fs) Insertion Likely pathogenic 627439 rs1553904404 GRCh37: 4:88537062-88537063
GRCh38: 4:87615910-87615911
10 DSPP NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs) Indel Likely pathogenic 834048 GRCh37: 4:88533706-88533709
GRCh38: 4:87612554-87612557
11 DSPP NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) SNV Uncertain significance 260354 rs61731011 GRCh37: 4:88534398-88534398
GRCh38: 4:87613246-87613246
12 DSPP NM_014208.3(DSPP):c.1847G>A (p.Ser616Asn) SNV Uncertain significance 1031808 GRCh37: 4:88535661-88535661
GRCh38: 4:87614509-87614509
13 DSPP NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp) Indel Uncertain significance 982865 GRCh37: 4:88537349-88537351
GRCh38: 4:87616197-87616199
14 DSPP NM_014208.3(DSPP):c.3003C>G (p.Ser1001Arg) SNV Uncertain significance 930250 GRCh37: 4:88536817-88536817
GRCh38: 4:87615665-87615665
15 DSPP NM_014208.3(DSPP):c.1031C>A (p.Thr344Asn) SNV Likely benign 689607 rs767387863 GRCh37: 4:88534369-88534369
GRCh38: 4:87613217-87613217
16 DSPP NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) SNV Benign 16858 rs36094464 GRCh37: 4:88533540-88533540
GRCh38: 4:87612388-87612388
17 DSPP NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu) SNV Benign 523082 rs959216315 GRCh37: 4:88537495-88537495
GRCh38: 4:87616343-87616343

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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