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 skin and kidney, 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

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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
Skin, Kidney

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
Multidisciplinary management of a child with severe open bite and amelogenesis imperfecta. (23811667)
2013
2
Amelogenesis imperfecta: a conservative and progressive adhesive treatment concept. (23116390)
2013
3
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. (23958762)
2013
4
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. (21549343)
2011
5
Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations. (20298654)
2010
6
MMP20 hemopexin domain mutation in amelogenesis imperfecta. (19966041)
2010
7
Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report. (20640366)
2010
8
Amelogenesis imperfecta: Report of a case and review of literature. (21887005)
2009
9
The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome. (19680205)
2009
10
Phenotypic variation in FAM83H-associated amelogenesis imperfecta. (19407157)
2009
11
A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). (19610109)
2009
12
Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity. (19213025)
2009
13
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. (18252228)
2008
14
Restoring function and esthetics in 2 patients with amelogenesis imperfecta: case report. (17216908)
2007
15
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. (17024372)
2007
16
Progressive pre-eruptive crown resorption in autosomal recessive generalized hypoplastic amelogenesis imperfecta. (17142066)
2007
17
Is amelogenesis imperfecta an indication for renal examination? (17181581)
2007
18
The molecular etiologies and associated phenotypes of amelogenesis imperfecta. (16838342)
2006
19
Amelogenesis imperfecta in a new animal model--a mutation in chromosome 5 (human 4q21). (15271968)
2004
20
An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. (15173235)
2004
21
Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta. (14970781)
2004
22
Amelogenesis imperfecta: the multidisciplinary approach. A case report. (14765635)
2004
23
Amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome. (12597691)
2003
24
Amelogenesis imperfecta: a scanning electron microscopic and histopathologic study. (12175124)
2002
25
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. (12461695)
2002
26
Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations. (11922869)
2002
27
Restoring function and esthetics in a patient with amelogenesis imperfecta: a case report. (11921768)
2002
28
Amelogenesis imperfecta: diagnosis and resolution of a case with hypoplasia and hypocalcification of enamel, dental agenesis, and skeletal open bite. (12066657)
2001
29
Hypocalcification type amelogenesis imperfecta in permanent dentition in association with heavily worn primary teeth, gingival hyperplasia, hypodontia and impacted teeth. (10204452)
1999
30
An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. (9188994)
1997
31
Scanning electron microscopic study of hypoplastic type amelogenesis imperfecta in primary teeth. (9484138)
1997
32
Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q. (9022927)
1996
33
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. (8721563)
1996
34
Dental development in amelogenesis imperfecta: a controlled study. (7899098)
1995
35
Craniofacial structure related to inheritance pattern in amelogenesis imperfecta. (8198082)
1994
36
Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. (8375104)
1993
37
Periodontal and prosthodontic treatment of amelogenesis imperfecta: a clinical report. (1403931)
1992
38
Amelogenesis imperfecta: a scanning electron microscopic and microradiographic study. (2760853)
1989
39
Case presentation: amelogenesis imperfecta. (3164830)
1988
40
'Amelogenesis imperfecta: autosomal dominant hypomaturation-hypoplasia type with taurodontism'. (3164621)
1988
41
Hereditary amelogenesis imperfecta. An epidemiological, genetic and clinical study in a Swedish child population. (3460191)
1986
42
The treatment of hypocalcified amelogenesis imperfecta in a young adolescent. (6596421)
1984
43
X-linked recessive hypomaturation amelogenesis imperfecta: report of case. (6946128)
1981
44
An esthestic management of the amelogenesis imperfecta patient. (297017)
1979
45
A case of amelogenesis imperfecta. (4528378)
1974
46
X-linked hypomaturation type of amelogenesis imperfecta exhibiting lyonization in affected females. (4518031)
1973
47
A kindred showing hypocalcified amelogenesis imperfecta: report of case. (4510007)
1973
48
Demonstration of the lyon hypothesis in X-linked dominant hypoplastic amelogenesis imperfecta. (5173207)
1971
49
Treatment of dentitions affected by hereditary amelogenesis and dentinogenesis imperfecta. (4222775)
1966
50
AMELOGENESIS IMPERFECTA. A REPORT OF TWO CASES. (14061138)
1963

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

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