AI
MCID: AML002
MIFTS: 46

Amelogenesis Imperfecta (AI) malady

Genetic diseases, Rare diseases, Oral diseases, Nephrological diseases, Fetal diseases categories

Summaries for Amelogenesis Imperfecta

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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). Affiliated tissues include kidney and skin, and related mouse phenotype craniofacial.

Wikipedia:66 Amelogenesis imperfecta (AI) presents with a rare abnormal formation of the enamel or external layer of... more...

Description from OMIM:48 104500, 204700, 130900, 301200, 104510 613211, 612529, 204650 more

Aliases & Classifications for Amelogenesis Imperfecta

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 48OMIM, 59SNOMED-CT, 36MeSH
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Classifications:



Aliases & Descriptions:

amelogenesis imperfecta 9 66 44 22 11 46
congenital enamel hypoplasia 22
aortic valve insufficiency 63
ai 22


External Ids:

Disease Ontology9 DOID:2187
SNOMED-CT59 78494001
MeSH36 D000567

Related Diseases for Amelogenesis Imperfecta

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18GeneCards, 19GeneDecks
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Diseases in the Amelogenesis Imperfecta, Type 1e family:

amelogenesis imperfecta Amelogenesis Imperfecta, Type Ib
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Iii
Amelogenesis Imperfecta, Type Iv Amelogenesis Imperfecta, Type Ig

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

(show top 50)    (show all 157)
idRelated DiseaseScoreTop Affiliating Genes
1dentinogenesis imperfecta30.7MMP20, ENAM
2dentin dysplasia30.4ENAM, MMP20
3dental fluorosis30.3MMP20, AMELX
4alzheimer's disease10.7
5taurodontism10.7
6cone-rod dystrophy amelogenesis imperfecta10.7
7nephrocalcinosis10.6
8cone-rod dystrophy10.6
9gingivitis10.6
10amelogenesis imperfecta, type ib10.6
11amelogenesis imperfecta, type 1e10.6
12amelogenesis imperfecta, type iv10.6
13amelogenesis imperfecta, type iii10.6
14amyloidosis10.5
15amelogenesis imperfecta, type ic10.5
16amelogenesis imperfecta, type ia510.5
17cerebritis10.5
18atherosclerosis10.5
19memory impairment10.5
20periodontitis10.5
21amelogenesis imperfecta hypomaturation type10.5
22amelogenesis imperfecta hypoplastic type, ig10.5
23amelogenesis imperfecta local hypoplastic10.5
24amelogenesis imperfecta, hypomaturation type, iia110.5
25amelogenesis imperfecta, hypomaturation type, iia210.5
26amelogenesis imperfecta, hypomaturation type, iia310.5
27amelogenesis imperfecta and gingival fibromatosis syndrome10.5
28amelogenesis imperfecta, type ig10.5
29amelogenesis imperfecta, type iia110.5
30amelogenesis imperfecta and gingival hyperplasia syndrome10.5
31brachyolmia-amelogenesis imperfecta syndrome10.5
32dementia10.4
33amelogenesis imperfecta hypoplastic/hypomaturation x-linked 110.4
34amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 210.4
35kohlschutter tonz syndrome10.4
36verloes bourguignon syndrome10.4
37amelogenesis imperfecta, type iia210.4
38artery disease10.4
39coronary artery disease10.4
40neuronitis10.4
41androgen insensitivity syndrome10.4
42adenocarcinoma10.3
43renal tubular acidosis10.3
44epidermolysis bullosa10.3
45amelogenesis imperfecta pigmented hypomaturation type10.3
46fibromatosis10.3
47tricho-dento-osseous syndrome10.3
48amelogenesis imperfecta type, iia410.3
49amelogenesis imperfecta, type iia310.3
50amelogenesis imperfecta, type ie, x-linked 210.3

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



Diseases related to amelogenesis imperfecta

Symptoms for Amelogenesis Imperfecta

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48OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Amelogenesis Imperfecta

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Amelogenesis Imperfecta:

34
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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38MGI
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MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1ENAM, MMP20, AMELX

Publications for Amelogenesis Imperfecta

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53PubMed
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Articles related to Amelogenesis Imperfecta:

(show top 50)    (show all 390)
idTitleAuthorsYear
1
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. (23375655)
2013
2
Phenotype-genotype correlations in mouse models of amelogenesis imperfecta caused by Amelx and Enam mutations. (22759786)
2012
3
Multiple unerupted teeth with amelogenesis imperfecta in siblings. (22655284)
2012
4
Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. (23251683)
2012
5
Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry. (21127961)
2011
6
Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations. (20298654)
2010
7
Interdisciplinary treatment of a patient with amelogenesis imperfecta. (21280548)
2010
8
Perturbed amelogenin secondary structure leads to uncontrolled aggregation in amelogenesis imperfecta mutant proteins. (20929860)
2010
9
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (19200527)
2009
10
Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. (19530186)
2009
11
Clinical success of deproteinization in hypocalcified amelogenesis imperfecta. (19169442)
2009
12
Amelogenesis imperfecta: Report of a case and review of literature. (21887005)
2009
13
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal- recessive cone-rod dystrophy and amelogenesis imperfecta. (19200525)
2009
14
Rehabilitation of a patient with amelogenesis imperfecta using all-ceramic crowns: a clinical report. (17692589)
2007
15
Amelogenesis imperfecta. (17408482)
2007
16
Acid-etching effects in hypomineralized amelogenesis imperfecta. A microscopic and microanalytical study. (16388292)
2006
17
Oral rehabilitation of a young adult with hypoplastic amelogenesis imperfecta: a clinical report. (16399268)
2006
18
Effect of deproteinization on composite bond strength in hypocalcified amelogenesis imperfecta. (16700741)
2006
19
ENAM mutations in autosomal-dominant amelogenesis imperfecta. (15723871)
2005
20
Genes and related proteins involved in amelogenesis imperfecta. (16304440)
2005
21
Amelogenesis imperfecta. (15119723)
2004
22
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. (12952177)
2003
23
Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta. (12489199)
2002
24
Amelogenesis imperfecta with growth hormone deficiency in a 12 year-old boy. (12014527)
2002
25
Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. (12393861)
2002
26
Amelogenesis imperfecta: a scanning electron microscopic and histopathologic study. (12175124)
2002
27
Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. (12407086)
2002
28
A case of amelogenesis imperfecta of deciduous and all permanent teeth. (11484794)
2001
29
Mutational analysis of X-linked amelogenesis imperfecta in multiple families. (10669095)
2000
30
Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. (11037750)
2000
31
The effects of acid-etching on enamel from different clinical variants of amelogenesis imperfecta: an SEM study. (9524971)
1998
32
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. (7554924)
1995
33
Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. (8375104)
1993
34
Periodontal and prosthodontic treatment of amelogenesis imperfecta: a clinical report. (8366451)
1993
35
Trichodysplasia and amelogenesis imperfecta. (8419879)
1993
36
The mineral composition and enamel ultrastructure of hypocalcified amelogenesis imperfecta. (8325967)
1993
37
Scanning electron microscopic study of primary teeth in X-linked amelogenesis imperfecta. (1602411)
1992
38
X-linked (recessive) hypomaturation amelogenesis imperfecta: a prosthodontic, genetic, and histopathologic report. (1800740)
1991
39
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. (1967204)
1990
40
Asymmetrical tooth defects observed in hypoplastic primary teeth and amelogenesis imperfecta: case reports. (3475684)
1987
41
Hereditary amelogenesis imperfecta. An epidemiological, genetic and clinical study in a Swedish child population. (3460191)
1986
42
Hereditary amelogenesis imperfecta. I. Oral health in children. (3466378)
1986
43
Amelogenesis imperfecta--a method of rehabilitation. (6391971)
1984
44
The treatment of hypocalcified amelogenesis imperfecta in a young adolescent. (6596421)
1984
45
X-linked hypomaturation amelogenesis imperfecta: a case report. (6932309)
1980
46
The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta. (4280388)
1974
47
Electron-optic analyses of hypomineralized amelogenesis imperfecta in man. (4625727)
1972
48
Amelogenesis imperfecta: report of a case. (5280290)
1971
49
A mineralized cuticular structure with connective tissue characteristics on the crowns of human unerupted teeth in amelogenesis imperfecta. A light and electron microscopic study. (4226808)
1967
50
Amelogenesis imperfecta; report of a case. (20993324)
1946

Variations for Amelogenesis Imperfecta

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Expression for genes affiliated with Amelogenesis Imperfecta

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Amelogenesis Imperfecta

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GO Terms for genes affiliated with Amelogenesis Imperfecta

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17Gene Ontology
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Cellular components related to Amelogenesis Imperfecta according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.1ENAM, MMP20, AMELX

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

idNameGO IDScoreTop Affiliating Genes
1amelogenesisGO:0971869.4ENAM, MMP20
2biomineral tissue developmentGO:0312149.2ENAM, AMELX
3odontogenesis of dentin-containing toothGO:0424759.2DLX3, AMELX

Products for genes affiliated with Amelogenesis Imperfecta

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Amelogenesis Imperfecta

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet