AI
MCID: AML002
MIFTS: 47

Amelogenesis Imperfecta (AI) malady

Summaries for Amelogenesis Imperfecta

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Amelogenesis imperfecta (ai) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. this condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. these dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. there are 4 main types of ai that are classified based on the type of enamel defect. these 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. ai can be inherited in an autosomal dominant, autosomal recessive or x-linked recessive pattern. last updated: 12/12/2013

MalaCards: Amelogenesis Imperfecta, also known as congenital enamel hypoplasia, is related to dentinogenesis imperfecta and dentin dysplasia. An important gene associated with Amelogenesis Imperfecta is AMELX (amelogenin, X-linked), and among its related pathways are Matrix Metalloproteinases and Degradation of the extracellular matrix. The compounds uk 383367 and marimastat have been mentioned in the context of this disorder. Affiliated tissues include kidney and skin, and related mouse phenotype craniofacial.

Genetics Home Reference:21 Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth.

Wikipedia:63 Amelogenesis imperfecta (AI) presents with a rare abnormal formation of the enamel or external layer of... more...

Description from OMIM:46 204650, 104500, 130900, 301200, 204700 612529, 613211, 104510 more

Aliases & Classifications for Amelogenesis Imperfecta

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8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

amelogenesis imperfecta 8 63 42 21 10 44
congenital enamel hypoplasia 21
aortic valve insufficiency 60
ai 21


External Ids:

Disease Ontology8 DOID:2187
SNOMED-CT56 78494001
MeSH34 D000567

Related Diseases for Amelogenesis Imperfecta

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17GeneCards, 18GeneDecks
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Diseases in the Amelogenesis Imperfecta, Type Ib family:

amelogenesis imperfecta Amelogenesis Imperfecta, Type Ic
Amelogenesis Imperfecta, Type Iii Amelogenesis Imperfecta, Type 1e
Amelogenesis Imperfecta, Type Iv

Diseases related to Amelogenesis Imperfecta via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 181)
idRelated DiseaseScoreTop Affiliating Genes
1dentinogenesis imperfecta30.6ENAM, MMP20, DSPP
2dentin dysplasia30.4ENAM, MSX2, MMP20, DSPP, AMBN
3root resorption30.2AMELX
4dental enamel hypoplasia30.2DSPP, COL17A1
5dental fluorosis30.2AMELY, AMELX, MMP20, MMP25
6cleft palate30.2DSPP
7aortic valve insufficiency11.0
8alzheimer's disease10.7
9cone-rod dystrophy amelogenesis imperfecta10.6
10aortic aneurysm10.6
11nephrocalcinosis10.6
12gingivitis10.6
13amelogenesis imperfecta and gingival fibromatosis syndrome10.6
14cone-rod dystrophy10.6
15cone dystrophy10.6
16amelogenesis imperfecta, type ib10.6
17rheumatic aortic valve insufficiency10.5
18amelogenesis imperfecta, type iii10.5
19amelogenesis imperfecta, type iia110.5
20amyloidosis10.5
21amelogenesis imperfecta hypoplastic type, ig10.5
22amelogenesis imperfecta, type ic10.5
23amelogenesis imperfecta, hypomaturation type, iia310.5
24periodontitis10.4
25amelogenesis imperfecta, hypomaturation type, iia110.4
26amelogenesis imperfecta, hypomaturation type, iia210.4
27amelogenesis imperfecta, type 1e10.4
28amelogenesis imperfecta, type iv10.4
29amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism10.4
30amelogenesis imperfecta, hypoplastic/hypomaturation type 1e10.4
31brachyolmia-amelogenesis imperfecta syndrome10.4
32atherosclerosis10.4
33mitral valve insufficiency10.4
34dementia10.4
35epilepsy syndrome10.4
36amelogenesis imperfecta nephrocalcinosis10.4
37amelogenesis imperfecta hypomaturation type10.4
38amelogenesis imperfecta hypoplastic/hypomaturation x-linked 110.4
39amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 210.4
40verloes bourguignon syndrome10.4
41amelogenesis imperfecta local hypoplastic10.4
42kohlschutter tonz syndrome10.4
43amelogenesis imperfecta, type iia210.4
44androgen insensitivity syndrome10.3
45coronary artery disease10.3
46neuronitis10.3
47dissecting aortic aneurysm10.3
48aortic disease10.3
49arthritis10.3
50endocarditis10.3

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



Diseases related to amelogenesis imperfecta

Clinical Features for Amelogenesis Imperfecta

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46OMIM
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Clinical features from OMIM:

204650,104500,130900,301200,204700,612529,613211,104510

Drugs & Therapeutics for Amelogenesis Imperfecta

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Amelogenesis Imperfecta

Drug clinical trials:

Search ClinicalTrials for Amelogenesis Imperfecta

Search NIH Clinical Center for Amelogenesis Imperfecta

Search CenterWatch for Amelogenesis Imperfecta

Genetic Tests for Amelogenesis Imperfecta

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Anatomical Context for Amelogenesis Imperfecta

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Amelogenesis Imperfecta:

32
Kidney, Skin

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Amelogenesis Imperfecta:
id TissueAnatomical CompartmentCell Relevance
1 ToothDental EnamelAmeloblasts Affected by disease
2 ToothDental EnamelEarly Ameloblasts Affected by disease

Animal Models for Amelogenesis Imperfecta or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2ENAM, MSX2, MMP20, DSPP, FAM20A, AMELX

Publications for Amelogenesis Imperfecta

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50PubMed
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Articles related to Amelogenesis Imperfecta:

(show top 50)    (show all 396)
idTitleAuthorsYear
1
A noninvasive treatment of amelogenesis imperfecta. (23479584)
2013
2
Interventions for the restorative care of amelogenesis imperfecta in children and adolescents. (23744349)
2013
3
Amelogenesis imperfecta: an introduction. (22538897)
2012
4
Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome. (23341834)
2012
5
An interdisciplinary approach for rehabilitating a patient with amelogenesis imperfecta: a case report. (22953069)
2012
6
The use of mouse models to investigate shear bond strength in amelogenesis imperfecta. (21917602)
2011
7
Adenovirus gene transfer to amelogenesis imperfecta ameloblast-like cells. (22003382)
2011
8
Target gene analyses of 39 amelogenesis imperfecta kindreds. (22243262)
2011
9
Diagnosis and esthetic functional rehabilitation of a patient with amelogenesis imperfecta. (21519583)
2011
10
Hardness and microshear bond strength to enamel and dentin of permanent teeth with hypocalcified amelogenesis imperfecta. (21470322)
2011
11
Perturbed amelogenin secondary structure leads to uncontrolled aggregation in amelogenesis imperfecta mutant proteins. (20929860)
2010
12
Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. (19530186)
2009
13
Hypocalcified type of amelogenesis imperfecta in a large family: clinical, radiographic, and histological findings, associated dento-facial anomalies, and resulting treatment load. (19452331)
2009
14
Restoring function and aesthetics in a patient previously treated for amelogenesis imperfecta. (20158059)
2009
15
Oral rehabilitation of a patient with amelogenesis imperfecta. (20108745)
2009
16
Effect of acid etching time on bond strength of an etch-and-rinse adhesive to primary tooth dentine affected by amelogenesis imperfecta. (18341565)
2008
17
A clinical and histological study of dental defects in a 10-year-old girl with pseudoxanthoma elasticum and amelogenesis imperfecta. (18298544)
2008
18
Rehabilitation of a patient with amelogenesis imperfecta using all-ceramic crowns: a clinical report. (17692589)
2007
19
Amelogenesis imperfecta. (17408482)
2007
20
Msx2 -/- transgenic mice develop compound amelogenesis imperfecta, dentinogenesis imperfecta and periodental osteopetrosis. (17878071)
2007
21
Amelogenesis imperfecta with renal disease--a report of two cases. (17944757)
2007
22
Acid-etching effects in hypomineralized amelogenesis imperfecta. A microscopic and microanalytical study. (16388292)
2006
23
The restorative management of amelogenesis imperfecta in the mixed dentition. (17315810)
2006
24
Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI). (15649948)
2005
25
The use of animal models to explore amelogenin variants in amelogenesis imperfecta. (16612085)
2005
26
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. (16246936)
2005
27
Dentine structure and mineralization in hypocalcified amelogenesis imperfecta: a quantitative X-ray histochemical study. (14996279)
2004
28
Evidence of amelogenesis imperfecta in an early African Homo erectus. (15183668)
2004
29
Molecular analysis for genetic counselling in amelogenesis imperfecta. (12363109)
2002
30
Dental anomalies associated with amelogenesis imperfecta: a radiographic assessment. (10503869)
1999
31
Amelogenesis imperfecta, nephrocalcinosis, and hypocalciuria syndrome in two siblings from a large family with consanguineous parents. (9870488)
1998
32
Amelogenesis imperfecta with enamel opacities and taurodontism: an alternative diagnosis for 'idiopathic dental fluorosis'. (8854424)
1996
33
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. (7554924)
1995
34
Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. (7782077)
1995
35
Characterization of the enamel ultrastructure and mineral content in hypoplastic amelogenesis imperfecta. (1745518)
1991
36
Microradiographic study of amelogenesis imperfecta. (2799270)
1989
37
Alteration of enamel proteins in hypomaturation amelogenesis imperfecta. (2674234)
1989
38
Autosomal recessive rough hypoplastic amelogenesis imperfecta. A case report with clinical, light microscopic, radiographic, and electron microscopic observations. (3163135)
1988
39
Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county. (3456873)
1986
40
Interradicular dentin dysplasia associated with amelogenesis imperfecta. (3862024)
1985
41
Amelogenesis imperfecta: the genetics, classification, and treatment. (6576132)
1983
42
Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. (284277)
1979
43
The treatment of amelogenesis imperfecta. (1066481)
1976
44
Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta. (4623931)
1972
45
Amelogenesis imperfecta: report of a case. (5280290)
1971
46
Amelogenesis imperfecta: report of a case. (5271317)
1970
47
Hereditary amelogenesis imperfecta. A rare autosomal dominant type. (5258202)
1969
48
RESTORATIVE TREATMENT FOR A MENTAL RETARDATE WITH ATYPICAL AMELOGENESIS IMPERFECTA. (14319391)
1965
49
Some observations on amelogenesis imperfecta and calcification of the dental enamel. (13379391)
1956
50
Amelogenesis imperfecta; report of a case. (20993324)
1946

Genetic Variations for Amelogenesis Imperfecta

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Expression for genes affiliated with Amelogenesis Imperfecta

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amelogenesis Imperfecta

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Pathways for genes affiliated with Amelogenesis Imperfecta

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37NCBI BioSystems Database, 51QIAGEN, 53Reactome
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Compounds for genes affiliated with Amelogenesis Imperfecta

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59Tocris Bioscience, 44Novoseek, 11DrugBank
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Compounds related to Amelogenesis Imperfecta according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1uk 3833675910.1MMP20, MMP25
2marimastat44 59 1112.1MMP25, MMP20
3gi 254023x5910.0MMP20, MMP25
4batimastat44 59 1112.0MMP25, MMP20, COL17A1
5gm 6001599.8MMP20, MMP25

GO Terms for genes affiliated with Amelogenesis Imperfecta

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16Gene Ontology
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Cellular components related to Amelogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.3ENAM, MMP25, MMP20, DSPP, AMELX, AMELY

Biological processes related to Amelogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1odontogenesisGO:04247610.1ENAM, TUFT1
2amelogenesisGO:09718610.1ENAM, MMP20, KLK4
3enamel mineralizationGO:07016610.0AMELX, FAM20A, MSX2
4biomineral tissue developmentGO:0312149.8CNNM4, DSPP, FAM83H, AMELX, AMELY
5bone mineralizationGO:0302829.8ENAM, AMBN, TUFT1
6odontogenesis of dentin-containing toothGO:0424759.7DLX3, AMELX, AMBN

Molecular functions related to Amelogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of tooth enamelGO:0303459.6ENAM, AMELX, AMELY, AMBN, TUFT1

Products for genes affiliated with Amelogenesis Imperfecta

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Sources for Amelogenesis Imperfecta

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet