MCID: DNT011
MIFTS: 46

Dentinogenesis Imperfecta malady

Categories: Rare diseases, Oral diseases, Bone diseases

Aliases & Classifications for Dentinogenesis Imperfecta

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta 32 10 45 23 47 12 51 36 65
Dentinogenesis Imperfecta Without Osteogenesis Imperfecta 45 51 65
Hereditary Opalescent Dentin 23 47 65
Dgi 23 51
Opalescent Teeth Without Osteogenesis Imperfecta 51
Non-Syndromic Dentinogenesis Imperfecta 51
 
Opalescent Teeth Without Oi 51
Non-Syndromic Dgi 51
Capdepont Teeth 45
Dgi Without Oi 51
Di 51

Characteristics:

Orphanet epidemiological data:

51
dentinogenesis imperfecta:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood

Classifications:



External Ids:

Disease Ontology10 DOID:4154
ICD1027 K00.5
MeSH36 D003811
NCIt42 C84667
Orphanet51 49042
ICD10 via Orphanet28 K00.5
MESH via Orphanet37 D003811
UMLS via Orphanet66 C0011436
UMLS65 C0011436, C2973527, C0205730

Summaries for Dentinogenesis Imperfecta

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NIH Rare Diseases:45 Dentinogenesis imperfecta is a condition that results in issues with tooth development, causing the teeth to be translucent and discolored (most often a blue-gray or yellow-brown in color). individuals with this disorder tend to have teeth that are weaker than normal which leads to increased wear, breakage, and loss of the teeth. this can affect both primary (baby) and permanent teeth. dentinogenesis imperfecta is caused by mutations in the dspp gene and is inherited in an autosomal dominant manner.there are three types of dentinogenesis imperfecta. type i: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. type ii and type iii: usually occur in people without another inherited disorder. some families with type ii also have progressive hearing loss. type iii was first identified in a population in brandywine, maryland. some researchers believe that dentinogenesis imperfecta type ii and type iii, along with a similar condition called dentin dysplasia type ii, are actually just different forms of a single disorder. last updated: 12/3/2015

MalaCards based summary: Dentinogenesis Imperfecta, also known as dentinogenesis imperfecta without osteogenesis imperfecta, is related to osteogenesis imperfecta, type iv and osteogenesis imperfecta, type iii. An important gene associated with Dentinogenesis Imperfecta is DSPP (Dentin Sialophosphoprotein), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Cell adhesion_ECM remodeling. Affiliated tissues include bone, liver and testes, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Genetics Home Reference:23 Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.

Wikipedia:68 Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

Related Diseases for Dentinogenesis Imperfecta

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Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta Type 2 Dentinogenesis Imperfecta Type 3

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

(show top 50)    (show all 188)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iv31.6COL1A1, COL1A2
2osteogenesis imperfecta, type iii30.1COL1A1, COL1A2, CRTAP, DSPP, FKBP10
3osteogenesis imperfecta, type ii29.7COL1A1, COL1A2, CRTAP, FKBP10, SERPINH1
4dentinogenesis imperfecta, shields type ii12.8
5dentinogenesis imperfecta type 312.8
6dentinogenesis imperfecta, shields type iii12.8
7dentinogenesis imperfecta type 212.7
8spondylometaphyseal dysplasia with dentinogenesis imperfecta12.5
9cortical defects wormian bones and dentinogenesis imperfecta12.4
10skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta12.4
11dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome12.4
12deafness, autosomal dominant 39, with dentinogenesis12.1
13osteogenesis imperfecta, type x10.7
14osteogenesis imperfecta, type xii10.7
15osteogenesis imperfecta, type vii10.6
16osteogenesis imperfecta, type i10.6
17cerebritis10.6
18prostatitis10.5
19leukemia10.5
20osteogenesis imperfecta, type viii10.5
21bruck syndrome 210.5
22osteogenesis imperfecta, type xvii10.5
23osteogenesis imperfecta, type xiii10.5
24osteogenesis imperfecta, type xiv10.5
25osteogenesis imperfecta, type v10.5
26osteogenesis imperfecta, type xvi10.5
27osteogenesis imperfecta, type xv10.5
28osteogenesis imperfecta, type ix10.5
29osteogenesis imperfecta, type vi10.5
30osteogenesis imperfecta, type xi10.5
31dentin dysplasia10.5
32osteogenesis imperfecta10.5
33melanoma10.4
34prostate cancer10.4
35hepatitis10.4
36glioblastoma10.4
37congenital trigeminal anesthesia10.3COL1A1, COL1A2
38col4a1-related disorders10.3COL1A1, COL1A2
39malaria10.3
40cystic fibrosis10.3
41hypertriglyceridemia10.3
42anaplastic large cell lymphoma10.3
43burns10.3
44lymphoma10.3
45sarcoma10.3
46plasmacytoma10.3
47myeloid leukemia10.3
48endotheliitis10.3
49idiopathic linear interstitial keratitis10.3COL1A1, COL1A2
50eif4g1-related parkinson disease10.3COL1A1, COL1A2

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



Diseases related to dentinogenesis imperfecta

Symptoms for Dentinogenesis Imperfecta

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Drugs & Therapeutics for Dentinogenesis Imperfecta

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Interventional clinical trials:

idNameStatusNCT IDPhase
1BBD Longitudinal Study of Osteogenesis ImperfectaRecruitingNCT02432625
2Orodental Manifestations of Rare DiseasesRecruitingNCT02397824

Search NIH Clinical Center for Dentinogenesis Imperfecta


Cochrane evidence based reviews: dentinogenesis imperfecta

Genetic Tests for Dentinogenesis Imperfecta

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Anatomical Context for Dentinogenesis Imperfecta

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MalaCards organs/tissues related to Dentinogenesis Imperfecta:

33
Bone, Liver, Testes, Heart, Lung, Brain, Breast

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dentinogenesis Imperfecta:
id TissueAnatomical CompartmentCell Relevance
1 ToothDentinOdontoblasts Affected by disease

Animal Models for Dentinogenesis Imperfecta or affiliated genes

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MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.8COL1A1, DMP1, FKBP10, IFITM5, SERPINH1
2MP:00053717.7COL1A1, COL1A2, DMP1, FKBP10, IFITM5, SERPINH1
3MP:00053857.4COL1A1, COL1A2, DMP1, FKBP10, SERPINH1, SPP1
4MP:00053787.1COL1A1, COL1A2, CRTAP, DMP1, FKBP10, SERPINH1
5MP:00053906.4COL1A1, COL1A2, CRTAP, DMP1, FKBP10, IFITM5

Publications for Dentinogenesis Imperfecta

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Articles related to Dentinogenesis Imperfecta:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
Endangered species. Captive pandas succumb to killer virus. (25678636)
2015
2
Multifunctional nanoparticle-EpCAM aptamer bioconjugates: a paradigm for targeted drug delivery and imaging in cancer therapy. (25240596)
2015
3
NF-I_ B mediates the effect of glucosylceramide synthase on P-glycoprotein modulation in a drug-resistance leukemia cell line]. (24510559)
2014
4
The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients. (23296490)
2013
5
Expression of G protein-coupled receptor 19 in human lung cancer cells is triggered by entry into S-phase and supports G(2)-M cell-cycle progression. (22912338)
2012
6
Brain natriuretic peptide and risk of atrial fibrillation after thoracic surgery. (22841166)
2012
7
Homonymous hemianopsia in a patient with Hodgkin's lymphoma in remission after BEACOPP chemotherapy. (22393099)
2012
8
Three cases of dissociative identity disorder and co-occurring borderline personality disorder treated with dynamic deconstructive psychotherapy. (22876528)
2012
9
Contrast-enhanced ultrasonography in the differentiation of retinal detachment and vitreous membrane in dogs and cats. (21967099)
2011
10
The colony-stimulating factor-1 (CSF-1) receptor sustains ERK1/2 activation and proliferation in breast cancer cell lines. (22096574)
2011
11
Limitation of mouth opening caused by osteochondroma of the coronoid process. (21719327)
2011
12
The carboxy-terminal tail of connexin43 gap junction protein is sufficient to mediate cytoskeleton changes in human glioma cells. (20512920)
2010
13
Bile salt sequestration induces hepatic de novo lipogenesis through farnesoid X receptor- and liver X receptor alpha-controlled metabolic pathways in mice. (19998408)
2010
14
Images in cardio-thoracic surgery: Giant thoracic aneurysm with vertebral osteolysis: possible cause of hypercalcemia? (19278862)
2009
15
Occult leptomeningeal large cell medulloblastoma in an adult. (19537136)
2009
16
Laparoscopic retroperitoneal lymph node dissection for low-stage testicular cancer. (18613781)
2008
17
Somatostatin receptors expression (SSTR1-SSTR5) in pheochromocytomas]. (19140390)
2008
18
No evidence of RALGDS mutations in cutaneous melanoma. (17992125)
2007
19
Mitochondrial localization of CNP2 is regulated by phosphorylation of the N-terminal targeting signal by PKC: implications of a mitochondrial function for CNP2 in glial and non-glial cells. (16343930)
2006
20
Isl1Cre reveals a common Bmp pathway in heart and limb development. (16556916)
2006
21
Sequential modifications in class II transactivator isoform 1 induced by lipopolysaccharide stimulate major histocompatibility complex class II transcription in macrophages. (17095509)
2006
22
Combination of multiple genetic risk factors is synergistically associated with carotid atherosclerosis in Japanese subjects with type 2 diabetes. (17065682)
2006
23
Phosphorylation of histone H2AX at M phase in human cells without DNA damage response. (16153602)
2005
24
Cognitive evaluation in adult patients with MAPbius syndrome. (15729527)
2005
25
The association between serum GGT level within normal range and risk factors of cardiovascular diseases]. (16312915)
2005
26
Effects of cytochrome c on the mitochondrial apoptosis-induced channel MAC. (15075210)
2004
27
Case of a late presentation of cor triatriatum in a woman born with an imperforate anus. (15462228)
2004
28
Retinoid-related molecules require caspase 9 for the effective release of Smac and the rapid induction of apoptosis. (14576769)
2004
29
Reduced gingival fluid flow: a peripheral marker of the pharmacological effect of roquinimex. (15035809)
2003
30
Ovarian steroid regulation of serotonin reuptake transporter (SERT) binding, distribution, and function in female macaques. (12660809)
2003
31
Activating signal cointegrator 2 required for liver lipid metabolism mediated by liver X receptors in mice. (12724417)
2003
32
Differences in amyloid deposition in primary and recurrent corneal lattice dystrophy type 1. (11917182)
2002
33
High numbers of active caspase 3-positive Reed-Sternberg cells in pretreatment biopsy specimens of patients with Hodgkin disease predict favorable clinical outcome. (12070005)
2002
34
Differential expression of human nucleoside transporters in normal and tumor tissue. (11162617)
2001
35
Tissue- and urokinase-type plasminogen activators and type 1 plasminogen activator inhibitor in melanomas and benign skin pigment neoplasms. (11687850)
2001
36
Factor II G20210A and factor V G1691A gene mutations and peripheral arterial occlusive disease. (10669148)
2000
37
Benign schwannoma. (10800357)
2000
38
A neuronal subpopulation in the mammalian enteric nervous system expresses TrkA and TrkC neurotrophin receptor-like proteins. (9669764)
1998
39
Effects of short-term insulin-like growth factor-I or growth hormone treatment on bone turnover, renal phosphate reabsorption and 1,25 dihydroxyvitamin D3 production in healthy man. (9077371)
1997
40
Neuroprotective effect of various cytokines on developing spinal motoneurons following axotomy. (8867065)
1996
41
Developmental regulation of focal contact protein expression in human melanocytes. (8610074)
1995
42
Validation of the low dose short insulin tolerance test for evaluation of insulin sensitivity. (8013142)
1994
43
Wide distribution of an enzyme that catalyzes the hydrolysis of cyclic ADP-ribose. (8518298)
1993
44
The role of laboratory testing in the diagnosis of renovascular hypertension. (1914198)
1991
45
Sex linked juvenile retinoschisis with optic disc and peripheral retinal neovascularisation. (2469460)
1989
46
Nephrogenic adenoma of bladder. (3824739)
1987
47
The problem of endocardial fibroelastosis. (13628349)
1959
48
Present status of prophylactic vaccination in swine erysipelas. (13538894)
1958
49
Urticaria Pigmentosa Nodulosa. (19987805)
1930
50

Variations for Dentinogenesis Imperfecta

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Expression for genes affiliated with Dentinogenesis Imperfecta

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Search GEO for disease gene expression data for Dentinogenesis Imperfecta.

Pathways for genes affiliated with Dentinogenesis Imperfecta

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GO Terms for genes affiliated with Dentinogenesis Imperfecta

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Cellular components related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:00055849.8COL1A1, COL1A2
2endoplasmic reticulumGO:00057838.8COL1A1, CRTAP, SERPINH1

Biological processes related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ossificationGO:000150310.1COL1A1, DSPP
2biomineral tissue developmentGO:003121410.1DMP1, SPP1
3response to steroid hormoneGO:004854510.0COL1A1, SPP1
4collagen biosynthetic processGO:00329649.9COL1A1, SERPINH1
5collagen catabolic processGO:00305749.9COL1A1, COL1A2
6cellular response to amino acid stimulusGO:00712309.8COL1A1, COL1A2
7leukocyte migrationGO:00509009.7COL1A1, COL1A2
8skin morphogenesisGO:00435899.5COL1A1, COL1A2
9extracellular matrix disassemblyGO:00226179.3COL1A1, COL1A2, SPP1

Molecular functions related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.6DSPP, SERPINH1

Sources for Dentinogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet