Dentinogenesis Imperfecta disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DI MCID: DNT011 MIFTS: 52	Dentinogenesis Imperfecta (DI) Categories: Bone diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Dentinogenesis Imperfecta

MalaCards integrated aliases for Dentinogenesis Imperfecta:

Name: Dentinogenesis Imperfecta ¹² ⁷⁴ ⁵² ²⁵ ⁵⁸ ²⁹ ⁵⁴ ⁶ ⁴³ ¹⁵ ⁷¹

Dentinogenesis Imperfecta Without Osteogenesis Imperfecta ⁵² ⁵⁸ ⁷¹

Hereditary Opalescent Dentin ²⁵ ⁵⁴ ⁷¹

Dgi ²⁵ ⁵⁸

Opalescent Teeth Without Osteogenesis Imperfecta ⁵⁸

Non-Syndromic Dentinogenesis Imperfecta ⁵⁸

Opalescent Teeth Without Oi ⁵⁸

Opalescent Dentin ⁷¹

Non-Syndromic Dgi ⁵⁸

Capdepont Teeth ⁵²

Dgi Without Oi ⁵⁸

Di ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

dentinogenesis imperfecta
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

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

Disorders of tooth development and eruption

Hereditary disturbances in tooth structure, not elsewhere classified

Orphanet: ⁵⁸

Rare odontological diseases

External Ids:

Disease Ontology ¹² DOID:4154

MeSH ⁴³ D003811

NCIt ⁴⁹ C84667

SNOMED-CT ⁶⁷ 196286005

ICD10 ³² K00.5

MESH via Orphanet ⁴⁴ D003811

ICD10 via Orphanet ³³ K00.5

UMLS via Orphanet ⁷² C0011436 C2973527

Orphanet ⁵⁸ ORPHA49042

SNOMED-CT via HPO ⁶⁸ 103276001 15188001 204164000 more

UMLS ⁷¹ C0011436 C0205730 C2973527 more

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Summaries for Dentinogenesis Imperfecta

NIH Rare Diseases : ⁵² Dentinogenesis imperfecta is a condition characterized by teeth that are translucent and discolored (most often blue-grey or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal, which leads to wear, breakage, and loss of teeth. This damage can include teeth fractures or small holes (pitting) in the enamel. Dentinogenesis imperfecta can affect both primary (baby) teeth and permanent teeth. People with this condition may also have speech problems or teeth that are not placed correctly in the mouth. Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner. According to the original classification, 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. People with this type of dentinogenesis imperfecta have mutations in COL1A1 or COL1A2 . Type II: usually occurs in people without another inherited disorder. Some families with type II also have progressive hearing loss in older age. Type II is the most common type of dentinogenesis imperfecta. Type III: usually occurs in people without another inherited disorder. Type III was first identified in a group of families in southern Maryland and has also been seen in individuals of Ashkenazi Jewish descent. 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.

MalaCards based summary : Dentinogenesis Imperfecta, also known as dentinogenesis imperfecta without osteogenesis imperfecta, is related to dentinogenesis imperfecta 1 and osteogenesis imperfecta, type i. An important gene associated with Dentinogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drug Zoledronic Acid has been mentioned in the context of this disorder. Affiliated tissues include Tooth, bone and salivary gland, and related phenotypes are obliteration of the pulp chamber and grayish enamel

Genetics Home Reference : ²⁵ 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. Researchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta. Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.

Wikipedia : ⁷⁴ Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. This condition is a type of... more...

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Related Diseases for Dentinogenesis Imperfecta

Diseases in the Dentinogenesis Imperfecta family:

Dentinogenesis Imperfecta 1	Dentinogenesis Imperfecta Type 2
Rare Disease with Dentinogenesis Imperfecta

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

(show top 50) (show all 120)

#	Related Disease	Score	Top Affiliating Genes
1	dentinogenesis imperfecta 1	35.0	DSPP DMP1
2	osteogenesis imperfecta, type i	33.2	CRTAP COL1A2 COL1A1
3	dentin dysplasia, type ii	33.2	SPP1 DSPP DMP1
4	osteogenesis imperfecta, type v	32.6	IFITM5 COL1A2 COL1A1
5	osteogenesis imperfecta, type viii	32.5	P3H1 CRTAP
6	osteogenesis imperfecta, type xii	32.3	SP7 SERPINF1 FKBP10
7	osteogenesis imperfecta, type vi	31.8	SERPINF1 IFITM5 COL1A2 COL1A1
8	dentin dysplasia	31.5	SPP1 DSPP DMP1
9	col1a1/2 osteogenesis imperfecta	30.9	COL1A2 COL1A1
10	osteogenesis imperfecta, type ii	30.8	PPIB P3H1 FKBP10 CRTAP COL1A2 COL1A1
11	tooth resorption	30.6	SPP1 DSPP
12	rickets	30.5	SPP1 DSPP DMP1
13	bone resorption disease	30.3	SPP1 SP7 COL1A2 COL1A1
14	osteogenesis imperfecta, type iv	30.1	TMEM38B SP7 SERPINF1 PPIB P3H1 FKBP10
15	scoliosis	29.5	PLOD2 FKBP10 COL1A2 COL1A1
16	osteoporosis	28.8	SPP1 SP7 P3H1 DMP1 CRTAP COL1A2
17	osteogenesis imperfecta, type iii	28.3	SERPINH1 SERPINF1 PPIB PLOD2 P3H1 FKBP10
18	odontochondrodysplasia	28.0	TMEM38B SPP1 SP7 SERPINH1 SERPINF1 PPIB
19	brittle bone disorder	27.2	TMEM38B SPP1 SP7 SERPINH1 SERPINF1 PPIB
20	dentinogenesis imperfecta, shields type iii	13.0
21	dentinogenesis imperfecta type 2	12.9
22	deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	12.9
23	cortical defects, wormian bones, and dentinogenesis imperfecta	12.5
24	dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	12.4
25	rare disease with dentinogenesis imperfecta	12.4
26	malformative syndrome with dentinogenesis imperfecta	12.4
27	hereditary dentin defect	11.7
28	osteogenesis imperfecta, type xi	11.7
29	osteogenesis imperfecta, type x	11.6
30	osteogenesis imperfecta, type vii	11.5
31	osteogenesis imperfecta, type ix	11.4
32	osteogenesis imperfecta, type xix	11.4
33	bruck syndrome 2	11.4
34	osteogenesis imperfecta, type xiii	11.4
35	osteogenesis imperfecta, type xiv	11.4
36	osteogenesis imperfecta, type xv	11.4
37	osteogenesis imperfecta, type xvi	11.4
38	osteogenesis imperfecta, type xvii	11.4
39	osteogenesis imperfecta, type xviii	11.4
40	osteogenesis imperfecta, type xx	11.4
41	amelogenesis imperfecta	10.6
42	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.5
43	hair whorl	10.5
44	ehlers-danlos/osteogenesis imperfecta syndrome	10.4	COL1A2 COL1A1
45	larsen-like syndrome	10.4	COL1A2 COL1A1
46	ehlers-danlos syndrome, arthrochalasia type, 2	10.4	COL1A2 COL1A1
47	type i ehlers-danlos syndrome	10.4	COL1A2 COL1A1
48	scleroderma, familial progressive	10.4	COL1A2 COL1A1
49	periodontitis, aggressive, 1	10.4
50	sensorineural hearing loss	10.4

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

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Symptoms & Phenotypes for Dentinogenesis Imperfecta

Human phenotypes related to Dentinogenesis Imperfecta:

⁵⁸ ³¹ (show all 21)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	obliteration of the pulp chamber ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006350
2	grayish enamel ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000683
3	yellow-brown discoloration of the teeth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006286
4	hypocalcification of dental enamel ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011084
5	fragile teeth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0025124
6	shell teeth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000694
7	generalized hypoplasia of dental enamel ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0006282
8	bruising susceptibility ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000978
9	persistence of primary teeth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006335
10	selective tooth agenesis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001592
11	finger joint hypermobility ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006094
12	hyperextensibility at elbow ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010485
13	knee joint hypermobility ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0045086
14	short dental roots ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006336
15	hearing impairment ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000365
16	prolonged bleeding time ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0003010
17	blue sclerae ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000592
18	joint hypermobility ⁵⁸		Frequent (79-30%)
19	abnormality of dentin ⁵⁸		Frequent (79-30%)
20	abnormality of the dental pulp ⁵⁸		Frequent (79-30%)
21	abnormality of the dental root ⁵⁸		Very frequent (99-80%)

MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.1	BMP1 COL1A1 COL1A2 CREB3L1 CRTAP DMP1
2	cardiovascular system	MP:0005385	10.06	BMP1 COL1A1 COL1A2 DMP1 FKBP10 SERPINF1
3	homeostasis/metabolism	MP:0005376	10	BMP1 COL1A1 COL1A2 CREB3L1 DMP1 FKBP10
4	craniofacial	MP:0005382	9.97	BMP1 COL1A1 DMP1 FKBP10 IFITM5 PPIB
5	limbs/digits/tail	MP:0005371	9.85	BMP1 COL1A1 COL1A2 DMP1 FKBP10 IFITM5
6	mortality/aging	MP:0010768	9.7	BMP1 COL1A1 COL1A2 FKBP10 IFITM5 PLOD2
7	skeleton	MP:0005390	9.47	BMP1 COL1A1 COL1A2 CREB3L1 CRTAP DMP1

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Drugs & Therapeutics for Dentinogenesis Imperfecta

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

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Zoledronic Acid

Approved

118072-93-8

68740

Synonyms:

(1-Hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonate

(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid

(1-Hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid

(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid

(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonate

(1-hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid

(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid

(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate

[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)

118072-93-8

2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid

2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid

2-(Imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid

AC-1092

AC1L2ACJ

AC1Q6RN3

ácido zoledrónico

Aclasta

AKOS005145739

Anhydrous Zoledronic Acid

BIDD:GT0292

BIDD:PXR0134

Bio-0112

Bisphosphonate 3

C088658

CGP 42446

CGP 42'446

CGP 42446A

CGP-42446

CGP-42'446

CHEBI:46557

CHEMBL924

CID68740

D08689

DB00399

FT-0082657

HMS2089O09

I06-0710

KS-1132

LS-181815

MolPort-002-885-874

MolPort-003-850-890

NCGC00159521-02

NCGC00159521-03

Novartis brand of zoledronic acid

Novartis brand OF zoledronic acid

NSC721517

Reclast

Reclast (TN)

S00092

S1314_Selleck

UNII-70HZ18PH24

Zol

ZOL

Zoledronate

Zoledronic acid

Zoledronic acid (INN)

Zoledronic acid [USAN:INN]

Zoledronic Acid Anhydrous

Zoledronic Acid, Anhydrous

Zometa

Zometa (Novartis)

Zometa (TN)

Zometa Concentrate

Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Multicenter Study to Evaluate Safety of Fresolimumab in Adults With Moderate-to-severe Osteogenesis Imperfecta	Recruiting	NCT03064074	Phase 1	Fresolimumab
2	Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital	Unknown status	NCT03169192		Zoledronic Acid
3	Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants	Recruiting	NCT03810859
4	Orodental Manifestations of Rare Diseases	Recruiting	NCT02397824
5	Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta	Recruiting	NCT02432625
6	Dental Malocclusion and Craniofacial Development in OI	Active, not recruiting	NCT02934451
7	Cross-Linked Collagen Peptides as a Urinary Biomarker of OI Pathobiology	Active, not recruiting	NCT02531087

Search NIH Clinical Center for Dentinogenesis Imperfecta

Cochrane evidence based reviews: dentinogenesis imperfecta

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Genetic Tests for Dentinogenesis Imperfecta

Genetic tests related to Dentinogenesis Imperfecta:

#	Genetic test	Affiliating Genes
1	Dentinogenesis Imperfecta ²⁹

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Anatomical Context for Dentinogenesis Imperfecta

MalaCards organs/tissues related to Dentinogenesis Imperfecta:

⁴⁰

Bone, Salivary Gland, Skin, Eye, Testes

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Dentinogenesis Imperfecta:

#	Tissue Anatomical CompartmentCell	Relevance
1	Tooth Dentin Odontoblasts	Affected by disease

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Publications for Dentinogenesis Imperfecta

Articles related to Dentinogenesis Imperfecta:

(show top 50) (show all 552)

#	Title	Authors	PMID	Year
1	Adhesive Restorations as An Esthetic Solution in Dentinogenesis Imperfecta. ⁶¹ ⁵²	Ubaldini AL...Aguiar FH	26731255	2015
2	Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. ⁵² ⁶¹	de La Dure-Molla M...Berdal A	25118030	2015
3	Management of dentinogenesis imperfecta: a review of two case reports. ⁵² ⁶¹	Rafeek RN...Al-Bayaty H	23649579	2013
4	Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. ⁵² ⁶¹	Bidra AS...Uribe F	21323831	2011
5	Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. ⁵⁴ ⁶¹	Rauch F...Glorieux FH	20087402	2010
6	A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. ⁶¹ ⁵⁴	Bai H...Qiu C	20146806	2010
7	De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family. ⁶¹ ⁵⁴	Kida M...Ariga T	20121932	2009
8	[Family tree and restoration method of hereditary opalescent dentin: a case report]. ⁶¹ ⁵⁴	Zhou P...Li YF	19927739	2009
9	[Pedigree analysis and prosthodontic treatment of patients with dentinogenesis imperfecta type II]. ⁵⁴ ⁶¹	Gan H...Xu XC	19760002	2009
10	Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization. ⁵⁴ ⁶¹	Suzuki S...Kulkarni AB	19348940	2009
11	Genetic evidence for key roles of decorin and biglycan in dentin mineralization. ⁶¹ ⁵⁴	Haruyama N...Kulkarni AB	19379665	2009
12	Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. ⁶¹ ⁵⁴	Acevedo AC...MacDougall M	18797159	2009
13	A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II. ⁵⁴ ⁶¹	Lee SK...Kim JW	19131317	2009
14	[A case report of fixed restoration of hereditary opalescent dentin]. ⁵⁴ ⁶¹	Liu K...Yang P	19186872	2008
15	A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. ⁶¹ ⁵⁴	Lee SK...Kim JW	19026876	2008
16	A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene. ⁵⁴ ⁶¹	McKnight DA...Fisher LW	18521831	2008
17	Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. ⁶¹ ⁵⁴	McKnight DA...Fisher LW	19029076	2008
18	Dentinogenesis imperfecta: a review and case report of a family over four generations. ⁵⁴ ⁶¹	Bhandari S...Pannu K	19075443	2008
19	The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. ⁵⁴ ⁶¹	Bailleul-Forestier I...Berdal A	18499550	2008
20	Dentinogenesis imperfecta: a case report. ⁶¹ ⁵⁴	Subramaniam P...Sugnani SN	18603736	2008
21	Dentinogenesis imperfecta: the importance of early treatment. ⁶¹ ⁵⁴	Delgado AC...Gonzalez E	18618042	2008
22	Dentinogenesis imperfecta type II: an affected family saga. ⁶¹ ⁵⁴	Kamboj M...Chandra A	17928732	2007
23	A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. ⁶¹ ⁵⁴	Zhang X...Liu M	17686168	2007
24	Hereditary dentin defects. ⁵⁴ ⁶¹	Kim JW...Simmer JP	17452557	2007
25	Developmental biology and genetics of dental malformations. ⁶¹ ⁵⁴	Hu JC...Simmer JP	17552940	2007
26	An integrated treatment approach: a case report for dentinogenesis imperfecta type II. ⁶¹ ⁵⁴	Shetty N...Dixit S	18604025	2007
27	Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders. ⁶¹ ⁵⁴	De Coster PJ...Vral A	17118335	2007
28	Molecular basis of human dentin diseases. ⁵⁴ ⁶¹	MacDougall M...Acevedo AC	16955410	2006
29	Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II. ⁵⁴ ⁶¹	Holappa H...Alaluusua S	17026502	2006
30	Phenotypes and genotypes in 2 DGI families with different DSPP mutations. ⁵⁴ ⁶¹	Song Y...Bian Z	16920545	2006
31	Overexpression of transforming growth factor-beta1 in teeth results in detachment of ameloblasts and enamel defects. ⁶¹ ⁵⁴	Haruyama N...Kulkarni AB	16674659	2006
32	Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. ⁶¹ ⁵⁴	Beattie ML...Hu JC	16567553	2006
33	SEM-morphology in dentinogenesis imperfecta type II: microscopic anatomy and efficacy of a dentine bonding system. ⁶¹ ⁵⁴	Gallusi G...Campanella V	16646639	2006
34	Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. ⁶¹ ⁵⁴	Kim JW...Simmer JP	15592686	2005
35	Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. ⁶¹ ⁵⁴	Dong J...MacDougall M	15690376	2005
36	Hereditary opalescent dentin--a case report. ⁶¹ ⁵⁴	Singh M...Singh S	15573663	2004
37	A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. ⁶¹ ⁵⁴	Kim JW...Simmer JP	15241678	2004
38	Deletion of dentin matrix protein-1 leads to a partial failure of maturation of predentin into dentin, hypomineralization, and expanded cavities of pulp and root canal during postnatal tooth development. ⁵⁴ ⁶¹	Ye L...Feng JQ	14966118	2004
39	Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. ⁶¹ ⁵⁴	Malmgren B...Norgren S	14758537	2004
40	Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. ⁵⁴ ⁶¹	Sreenath T...Kulkarni AB	12721295	2003
41	Dentinogenesis imperfecta associated with osteogenesis imperfecta: report of two cases. ⁶¹ ⁵⁴	Tsai CL...Lin YT	12718392	2003
42	COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. ⁶¹ ⁵⁴	Benusiene E...Kucinskas V	12590186	2003
43	Dental structural diseases mapping to human chromosome 4q21. ⁵⁴ ⁶¹	MacDougall M	12952210	2003
44	Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. ⁵⁴ ⁶¹	Rajpar MH...Dixon MJ	12354781	2002
45	Diagnostic features and pedodontic-orthodontic management in dentinogenesis imperfecta type II: a case report. ⁵⁴ ⁶¹	Huth KCh...Hickel R	12199890	2002
46	MEPE/OF45, a new dentin/bone matrix protein and candidate gene for dentin diseases mapping to chromosome 4q21. ⁶¹ ⁵⁴	MacDougall M...Dong J	12489176	2002
47	Odontoblast dysfunction in osteogenesis imperfecta: an LM, SEM, and ultrastructural study. ⁵⁴ ⁶¹	Hall RK...Hemmerle J	12489189	2002
48	Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. ⁵⁴ ⁶¹	Pallos D...Hart TC	11286811	2001
49	Reduced expression of dentin sialophosphoprotein is associated with dysplastic dentin in mice overexpressing transforming growth factor-beta 1 in teeth. ⁶¹ ⁵⁴	Thyagarajan T...Kulkarni AB	11116156	2001
50	Soundbites. ⁶¹ ⁵⁴	Patel P	11175770	2001

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Genes for Dentinogenesis Imperfecta

Genes related to Dentinogenesis Imperfecta (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	445.19	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Variants (show sections)	11286811
2	DSPP	Dentin Sialophosphoprotein	Protein Coding	70.2	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	19927739 19186872 9780905 (more) 15573663 15592686 18618042 12199890 10693338 17928732 11116156 10371252 17686168 18797159 8046108 7823299 19029076 9177774 8586437 15690376 18604025 16567553 20146806 19131317 17026502 9541230 8655763 9868734 20121932 7983359 15241678 10371253 12718392 1508875 7573043 11175770 9493074 8006116 8456802 1729887 14758537 9084665 16955410 18603736 19348940 12354781 1287413 19760002 19379665 18521831 17452557 14966118 12721295 17118335 16646639 12952210 2133941 1305296 19075443 12489176 7854952 1820815 18499550 17627120 17552940 19026876 12489189 10765957 1574308 16674659 16920545
3	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	35.36	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
4	DMP1	Dentin Matrix Acidic Phosphoprotein 1	Protein Coding	25.78	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	9177774 8586437 8955126 (more) 9084665
5	SPP1	Secreted Phosphoprotein 1	Protein Coding	22.27	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	9541230 7665163
6	CRTAP	Cartilage Associated Protein	Protein Coding	16.14	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
7	IFITM5	Interferon Induced Transmembrane Protein 5	Protein Coding	15.58	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
8	P3H1	Prolyl 3-Hydroxylase 1	Protein Coding	15.49	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
9	FKBP10	FKBP Prolyl Isomerase 10	Protein Coding	15.38	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
10	TMEM38B	Transmembrane Protein 38B	Protein Coding	15.14	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
11	SERPINH1	Serpin Family H Member 1	Protein Coding	14.85	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
12	BMP1	Bone Morphogenetic Protein 1	Protein Coding	14.82	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
13	SERPINF1	Serpin Family F Member 1	Protein Coding	14.45	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
14	PLOD2	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2	Protein Coding	14.43	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
15	SP7	Sp7 Transcription Factor	Protein Coding	14.43	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
16	PPIB	Peptidylprolyl Isomerase B	Protein Coding	14.36	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
17	CREB3L1	CAMP Responsive Element Binding Protein 3 Like 1	Protein Coding	14.23	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)

Sources

Variations for Dentinogenesis Imperfecta

ClinVar genetic disease variations for Dentinogenesis Imperfecta:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	COL1A1	NM_000088.3(COL1A1):c.2155G>A (p.Gly719Ser)	SNV	Pathogenic	425606	rs72651645	17:48268824-48268824	17:50191463-50191463
2	COL1A2	NM_000089.3(COL1A2):c.2027G>A (p.Gly676Asp)	SNV	Likely pathogenic	548666	rs66883877	7:94048811-94048811	7:94419499-94419499

Sources

Expression for Dentinogenesis Imperfecta

Search GEO for disease gene expression data for Dentinogenesis Imperfecta.

Sources

Pathways for Dentinogenesis Imperfecta

Pathways related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Collagen chain trimerization ⁶⁵ Show member pathways Anchoring fibril formation ⁶⁵ Assembly of collagen fibrils and other multimeric structures ⁶⁵ Blood Coagulation Cascade ⁶³ Collagen biosynthesis and modifying enzymes ⁶⁵ Collagen formation ⁶⁵ Crosslinking of collagen fibrils ⁶⁵ Intrinsic Prothrombin Activation Pathway ⁶³ Protein digestion and absorption ³⁶	12.28	SERPINH1 PPIB PLOD2 P3H1 CRTAP COL1A2
2	Degradation of the extracellular matrix ⁶⁵ Show member pathways Collagen degradation ⁶⁵ Extracellular matrix organization ⁶⁵	12.02	SPP1 SERPINH1 PPIB PLOD2 P3H1 DSPP
3	ECM-receptor interaction ³⁶ Show member pathways Integrin cell surface interactions ⁶⁵	11.75	SPP1 DSPP DMP1 COL1A2 COL1A1
4	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.02	SPP1 COL1A2 COL1A1
5	VEGFR3 signaling in lymphatic endothelium ¹	10.68	COL1A2 COL1A1

Sources

GO Terms for Dentinogenesis Imperfecta

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.98	SPP1 SERPINH1 SERPINF1 CRTAP COL1A2 COL1A1
2	extracellular region	GO:0005576	9.97	SPP1 SERPINF1 P3H1 DSPP DMP1 CRTAP
3	extracellular matrix	GO:0031012	9.67	DSPP DMP1 COL1A2 COL1A1
4	collagen-containing extracellular matrix	GO:0062023	9.65	SERPINH1 SERPINF1 P3H1 COL1A2 COL1A1
5	endoplasmic reticulum	GO:0005783	9.65	TMEM38B SERPINH1 PPIB PLOD2 P3H1 FKBP10
6	collagen trimer	GO:0005581	9.58	SERPINH1 COL1A2 COL1A1
7	endoplasmic reticulum lumen	GO:0005788	9.28	SPP1 SERPINH1 PPIB P3H1 FKBP10 DMP1
8	collagen type I trimer	GO:0005584	9.16	COL1A2 COL1A1

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:0001501	9.73	DSPP COL1A2 COL1A1 BMP1
2	bone development	GO:0060348	9.67	TMEM38B PPIB P3H1
3	bone mineralization	GO:0030282	9.65	TMEM38B IFITM5 COL1A2
4	osteoblast differentiation	GO:0001649	9.56	SPP1 SP7 CREB3L1 COL1A1
5	extracellular matrix organization	GO:0030198	9.55	SPP1 DSPP DMP1 COL1A2 COL1A1
6	collagen metabolic process	GO:0032963	9.54	P3H1 COL1A2
7	biomineral tissue development	GO:0031214	9.54	SPP1 DSPP DMP1
8	skin morphogenesis	GO:0043589	9.52	COL1A2 COL1A1
9	collagen biosynthetic process	GO:0032964	9.51	SERPINH1 COL1A1
10	chaperone-mediated protein folding	GO:0061077	9.5	PPIB P3H1 CRTAP
11	extracellular matrix constituent secretion	GO:0070278	9.46	TMEM38B CREB3L1
12	negative regulation of post-translational protein modification	GO:1901874	9.4	P3H1 CRTAP
13	collagen fibril organization	GO:0030199	9.26	SERPINH1 CRTAP COL1A2 COL1A1
14	ossification	GO:0001503	9.1	TMEM38B SPP1 DSPP DMP1 COL1A1 BMP1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	9.43	DSPP COL1A2 COL1A1
2	L-ascorbic acid binding	GO:0031418	9.16	PLOD2 P3H1
3	collagen binding	GO:0005518	9.02	SERPINH1 PPIB P3H1 DSPP CRTAP
4	platelet-derived growth factor binding	GO:0048407	8.96	COL1A2 COL1A1

Sources

Sources for Dentinogenesis Imperfecta

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Dentinogenesis Imperfecta (DI)

Aliases & Classifications for Dentinogenesis Imperfecta

MalaCards integrated aliases for Dentinogenesis Imperfecta:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Dentinogenesis Imperfecta

Related Diseases for Dentinogenesis Imperfecta

Diseases in the Dentinogenesis Imperfecta family:

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

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

Symptoms & Phenotypes for Dentinogenesis Imperfecta

Human phenotypes related to Dentinogenesis Imperfecta:

MGI Mouse Phenotypes related to Dentinogenesis Imperfecta:

Drugs & Therapeutics for Dentinogenesis Imperfecta

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

Interventional clinical trials:

Cochrane evidence based reviews: dentinogenesis imperfecta

Genetic Tests for Dentinogenesis Imperfecta

Genetic tests related to Dentinogenesis Imperfecta:

Anatomical Context for Dentinogenesis Imperfecta

MalaCards organs/tissues related to Dentinogenesis Imperfecta:

Publications for Dentinogenesis Imperfecta

Articles related to Dentinogenesis Imperfecta:

Genes for Dentinogenesis Imperfecta

Genes related to Dentinogenesis Imperfecta (1 elite genes):

Variations for Dentinogenesis Imperfecta

ClinVar genetic disease variations for Dentinogenesis Imperfecta:

Expression for Dentinogenesis Imperfecta

Pathways for Dentinogenesis Imperfecta

Pathways related to Dentinogenesis Imperfecta according to GeneCards Suite gene sharing:

GO Terms for Dentinogenesis Imperfecta

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

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

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

Sources for Dentinogenesis Imperfecta