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DI-2
MCID: DNT047
MIFTS: 35

Dentinogenesis Imperfecta Type 2 (DI-2)

Categories: Bone diseases, Ear diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Dentinogenesis Imperfecta Type 2

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MalaCards integrated aliases for Dentinogenesis Imperfecta Type 2:

Name: Dentinogenesis Imperfecta Type 2 20 58
Dentinogenesis Imperfecta, Shields Type 2 20 58
Capdepont Teeth 20 58
Dgi-2 20 58
Di-2 20 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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Oral diseases Bone diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33
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
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Summaries for Dentinogenesis Imperfecta Type 2

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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 Cisplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include testis, pituitary and testes.

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Related Diseases for Dentinogenesis Imperfecta Type 2

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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 139)
# 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 endometriosis 10.1
19 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.0
20 neural tube defects 10.0
21 autism 10.0
22 dermatitis 10.0
23 infertility 10.0
24 atherosclerosis susceptibility 10.0
25 type 2 diabetes mellitus 10.0
26 leukemia, chronic lymphocytic 10.0
27 anxiety 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 adenoma 10.0
35 diabetes mellitus 10.0
36 fatty liver disease 10.0
37 precocious puberty 10.0
38 hepatocellular carcinoma 9.9
39 fibrosis of extraocular muscles, congenital, 1 9.9
40 ige responsiveness, atopic 9.9
41 papillomatosis, confluent and reticulated 9.9
42 triiodothyronine receptor auxiliary protein 9.9
43 lung cancer 9.9
44 cryptorchidism, unilateral or bilateral 9.9
45 asthma 9.9
46 body mass index quantitative trait locus 1 9.9
47 allergic rhinitis 9.9
48 ovarian disease 9.9
49 male infertility 9.9
50 urticaria 9.9

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



Diseases related to Dentinogenesis Imperfecta Type 2
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Symptoms & Phenotypes for Dentinogenesis Imperfecta Type 2

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Drugs & Therapeutics for Dentinogenesis Imperfecta Type 2

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
2
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
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

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Genetic Tests for Dentinogenesis Imperfecta Type 2

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Anatomical Context for Dentinogenesis Imperfecta Type 2

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MalaCards organs/tissues related to Dentinogenesis Imperfecta Type 2:

40
Testis, Pituitary, Testes, Ovary, Endothelial, Cortex, Colon
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Publications for Dentinogenesis Imperfecta Type 2

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Articles related to Dentinogenesis Imperfecta Type 2:

(show top 50) (show all 5384)
# 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
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. 6
11175790 2001
6
DSPP mutation in dentinogenesis imperfecta Shields type II. 6
11175779 2001
7
Contamination and historical trends of legacy and emerging plasticizers in sediment from highly industrialized bays of Korea. 61
33071113 2021
8
Occurrence, health risks and soil-air exchange of phthalate acid esters: A case study in plastic film greenhouses of Chongqing, China. 61
33189390 2021
9
Inhalation of two Prop 65-listed chemicals within vehicles may be associated with increased cancer risk. 61
33524670 2021
10
Concentrations of organic contaminants in industrial and municipal bioresources recycled in agriculture in the UK. 61
33246727 2021
11
Levels and determinants of urinary phthalate metabolites in Chinese community-dwelling older adults. 61
33360337 2021
12
Postnatal exposure to DINP was associated with greater alterations of lipidomic markers for hepatic steatosis than DEHP in postweaning mice. 61
33223173 2021
13
Food emulsifier polysorbate 80 promotes the intestinal absorption of mono-2-ethylhexyl phthalate by disturbing intestinal barrier. 61
33476678 2021
14
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
15
DEHP-elicited small extracellular vesicles miR-26a-5p promoted metastasis in nearby normal A549 cells. 61
33229049 2021
16
Air pollution caused by phthalates and cyclic siloxanes in Hanoi, Vietnam: Levels, distribution characteristics, and implications for inhalation exposure. 61
33183807 2021
17
Comprehensive determination of phthalate, terephthalate and di-iso-nonyl cyclohexane-1,2-dicarboxylate metabolites in wastewater by solid-phase extraction and ultra(high)-performance liquid chromatography-tandem mass spectrometry. 61
33379114 2021
18
Effects of Phthalate Esters on Human Myometrial and Fibroid Cells: Cell Culture and NOD-SCID Mouse Data. 61
33037561 2021
19
Acute exposure of di(2-ethylhexyl) phthalate (DEHP) induces immune signal regulation and ferroptosis in oryzias melastigma. 61
33272674 2021
20
Association between Urinary Phthalate Metabolites and Markers of Endothelial Dysfunction in Adolescents and Young Adults. 61
33562063 2021
21
Embryonic exposures to mono-2-ethylhexyl phthalate induce larval steatosis in zebrafish independent of Nrf2a signaling. 61
32063256 2021
22
Aggravation of autism-like behavior in BTBR T+tf/J mice by environmental pollutant, di-(2-ethylhexyl) phthalate: Role of nuclear factor erythroid 2-related factor 2 and oxidative enzymes in innate immune cells and cerebellum. 61
33385713 2021
23
Breaking the cycle: Targeting of NDRG1 to inhibit bi-directional oncogenic cross-talk between pancreatic cancer and stroma. 61
33484481 2021
24
LncRNAs activate longevity regulation pathway due to aging of Leydig cells caused by DEHP exposure: A transcriptome-based study. 61
33360214 2021
25
Incidence of uterine leiomyoma in relation to urinary concentrations of phthalate and phthalate alternative biomarkers: A prospective ultrasound study. 61
33360166 2021
26
Comparative Effects of Di-(2-ethylhexyl)phthalate and Di-(2-ethylhexyl)terephthalate Metabolites on Thyroid Receptors: In Vitro and In Silico Studies. 61
33578748 2021
27
Tuned Cd2+ Selectivity: Showcase of Electronic and Regio-Effect of π-Extended Di-2-Picolylamine-Substituted Quinoline-Based Tolans. 61
33572333 2021
28
Electrosynthesis of Electrochromic Polymer Membranes Based on 3,6-Di(2-thienyl)carbazole and Thiophene Derivatives. 61
33572342 2021
29
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
30
Enzyme mimics based membrane reactor for di(2-ethylhexyl) phthalate degradation. 61
33264945 2021
31
Enhanced uptake of di-(2-ethylhexyl) phthalate by the influence of citric acid in Helianthus annuus cultivated in artificially contaminated soil. 61
33032222 2021
32
Occurrence and distribution of microplastic particles and the concentration of Di 2-ethyl hexyl phthalate (DEHP) in microplastics and wastewater in the wastewater treatment plant. 61
33360551 2021
33
Urinary di(2-ethylhexyl)phthalate metabolite ratios in obese children of South Korea. 61
33559826 2021
34
Di (2-ethylhexyl) phthalate impairs primordial follicle assembly by increasing PDE3A expression in oocytes. 61
33234378 2021
35
Lycopene Ameliorates Di(2-ethylhexyl) Phthalate-Induced Pyroptosis in Spleen via Suppression of Classic Caspase-1/NLRP3 Pathway. 61
33475360 2021
36
Biodegradability of di-(2-ethylhexyl) phthalate by a newly isolated bacterium Achromobacter sp. RX. 61
33035973 2021
37
Phthalates and non-phthalate plasticizers in Tunisian marine samples: Occurrence, spatial distribution and seasonal variation. 61
33486405 2021
38
Dp44mT regulates the levels of inflammatory mediators through blocking NF-κB nuclear translocation in LPS-stimulated RAW 264.7 macrophages. 61
33594608 2021
39
Hydrochemical composition, distribution, and sources of typical organic pollutants and metals in Lake Bangong Co, Tibet. 61
33155115 2021
40
Phthalates in House and Dormitory Dust: Occurrence, Human Exposure and Risk Assessment. 61
33247789 2021
41
Combined cytotoxicity of polystyrene nanoplastics and phthalate esters on human lung epithelial A549 cells and its mechanism. 61
33601174 2021
42
Additive and High-Temperature Processing Boost the Photovoltaic Performance of Nonfullerene Organic Solar Cells Fabricated with Blade Coating and Nonhalogenated Solvents. 61
33605134 2021
43
Lycium Barbarum Polysaccharides and Wolfberry Juice Prevent DEHP-Induced Hepatotoxicity via PXR-Regulated Detoxification Pathway. 61
33562043 2021
44
Reductive degradation of chlorinated organophosphate esters by nanoscale zerovalent iron/cetyltrimethylammonium bromide composites: Reactivity, mechanism and new pathways. 61
33038715 2021
45
Actinide ion uptake from acidic radioactive feeds using an extraction chromatographic resin containing a branched dialkyl amide. 61
33250161 2021
46
Exposure to pollutants altered glucocorticoid signaling and clock gene expression in female mice. Evidence of tissue- and sex-specificity. 61
32784060 2021
47
Effect of dermal phthalate levels on lung function tests in residential area near a petrochemical complex. 61
33511527 2021
48
Immune cell profiles associated with measured exposure to phthalates in the Norwegian EuroMix biomonitoring study - A mass cytometry approach in toxicology. 61
33395934 2021
49
Metabolites of 4-methylbenzylidene camphor (4-MBC), butylated hydroxytoluene (BHT), and tris(2-ethylhexyl) trimellitate (TOTM) in urine of children and adolescents in Germany - human biomonitoring results of the German Environmental Survey GerES V (2014-2017). 61
33096061 2021
50
DEHP induce cholesterol imbalance via disturbing bile acid metabolism by altering the composition of gut microbiota in rats. 61
32814133 2021
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Variations for Dentinogenesis Imperfecta Type 2

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ClinVar genetic disease variations for Dentinogenesis Imperfecta Type 2:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSPP NM_014208.3(DSPP):c.44C>T (p.Ala15Val) SNV Pathogenic 16859 rs121912989 4:88532104-88532104 4:87610952-87610952
2 DSPP NM_014208.3(DSPP):c.3438del (p.Asp1146fs) Deletion Pathogenic 16861 rs1560480632 4:88537252-88537252 4:87616100-87616100
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.135+1G>A SNV Pathogenic 16854 rs1560477489 4:88533341-88533341 4:87612189-87612189
5 DSPP NM_014208.3(DSPP):c.133C>T (p.Gln45Ter) SNV Pathogenic 16853 rs121912985 4:88533338-88533338 4:87612186-87612186
6 DSPP NM_014208.3(DSPP):c.3248_3249insC (p.Glu1083fs) Insertion Likely pathogenic 627439 rs1553904404 4:88537062-88537063 4:87615910-87615911
7 DSPP NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs) Indel Likely pathogenic 834048 4:88533706-88533709 4:87612554-87612557
8 DSPP NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp) Indel Uncertain significance 982865 4:88537349-88537351 4:87616197-87616199
9 DSPP NM_014208.3(DSPP):c.3003C>G (p.Ser1001Arg) SNV Uncertain significance 930250 4:88536817-88536817 4:87615665-87615665
10 DSPP NM_014208.3(DSPP):c.1031C>A (p.Thr344Asn) SNV Likely benign 689607 rs767387863 4:88534369-88534369 4:87613217-87613217
11 DSPP NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) SNV Benign 16858 rs36094464 4:88533540-88533540 4:87612388-87612388
12 DSPP NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu) SNV Benign 523082 rs959216315 4:88537495-88537495 4:87616343-87616343
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Expression for Dentinogenesis Imperfecta Type 2

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

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GO Terms for Dentinogenesis Imperfecta Type 2

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Sources for Dentinogenesis Imperfecta Type 2

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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