MCID: AML002
MIFTS: 43

Amelogenesis Imperfecta malady

Categories: Genetic diseases, Rare diseases, Oral diseases, Nephrological diseases

Aliases & Classifications for Amelogenesis Imperfecta

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 27ICD10, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 32 10 68 45 23 47 12 51 36
Congenital Enamel Hypoplasia 23
 
Aortic Valve Insufficiency 65
Ai 23

Characteristics:

Orphanet epidemiological data:

51
amelogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked dominant,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology10 DOID:2187
ICD1027 K00.5
MeSH36 D000567
Orphanet51 88661
SNOMED-CT59 78494001
UMLS via Orphanet66 C0002452
ICD10 via Orphanet28 K00.5
MESH via Orphanet37 D000567
UMLS65 C0002452

Summaries for Amelogenesis Imperfecta

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NIH Rare Diseases:45 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 based summary: Amelogenesis Imperfecta, also known as congenital enamel hypoplasia, is related to amelogenesis imperfecta hypoplastic type, ig and amelogenesis imperfecta, type 1e, and has symptoms including diastolic murmurs An important gene associated with Amelogenesis Imperfecta is AMELX (Amelogenin, X-Linked). Affiliated tissues include heart, bone and lung, and related mouse phenotypes are craniofacial and growth/size/body region.

Disease Ontology:10 A dental enamel hypoplasia characterized by abnormal enamel formation.

Genetics Home Reference:23 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 (adult) teeth.

Wikipedia:68 Amelogenesis imperfecta (AI) presents with a rare abnormal formation of the enamel or external layer of... more...

Related Diseases for Amelogenesis Imperfecta

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Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ib
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Iii
Amelogenesis Imperfecta, Type Iv Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type 1e

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

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta hypoplastic type, ig32.0AMELX, KLK4, MMP20, WDR72
2amelogenesis imperfecta, type 1e12.4
3amelogenesis imperfecta, type iv12.4
4amelogenesis imperfecta, type iia112.4
5amelogenesis imperfecta, type iii12.4
6amelogenesis imperfecta, type ib12.4
7amelogenesis imperfecta, type ic12.4
8amelogenesis imperfecta, type iia212.3
9amelogenesis imperfecta, type ig12.3
10amelogenesis imperfecta, type iia412.3
11amelogenesis imperfecta, type iia312.3
12amelogenesis imperfecta, type ia12.3
13amelogenesis imperfecta, type if12.3
14amelogenesis imperfecta, type ih12.3
15amelogenesis imperfecta, type iia512.3
16hypoplastic amelogenesis imperfecta12.3
17amelogenesis imperfecta hypomaturation type12.3
18hypocalcified amelogenesis imperfecta12.2
19amelogenesis imperfecta local hypoplastic12.2
20amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 212.1
21brachyolmia-amelogenesis imperfecta syndrome12.1
22amelogenesis imperfecta pigmented hypomaturation type12.0
23amelogenesis imperfecta-gingival hyperplasia syndrome12.0
24trichodysplasia-amelogenesis imperfecta syndrome12.0
25jalili syndrome12.0
26androgen insensitivity11.7
27kohlschutter-tonz syndrome11.5
28dental anomalies and short stature11.5
29aland island eye disease11.4
30autoimmune inner ear disease11.4
31verloes bourguignon syndrome11.3
32adolescent idiopathic scoliosis11.2
33lubinsky syndrome11.0
34amelo-cerebro-hypohidrotic syndrome11.0
35hypergonadotropic hypogonadism-cataract syndrome11.0
36pediatric arterial ischemic stroke11.0
37amish infantile epilepsy syndrome10.9
38tricho-dento-osseous syndrome10.7
39taurodontism10.5
40nephrocalcinosis10.5
41gingivitis10.4
42hereditary amyloidosis10.4
43cone-rod dystrophy10.4
44periodontitis10.3
45dentinogenesis imperfecta10.3
46cerebritis10.3
47amyloidosis10.3
48dentin dysplasia10.2
49dementia10.2
50neuronitis10.2

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



Diseases related to amelogenesis imperfecta

Symptoms for Amelogenesis Imperfecta

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UMLS symptoms related to Amelogenesis Imperfecta:


diastolic murmurs

Drugs & Therapeutics for Amelogenesis Imperfecta

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Factors of Genetic Susceptibility Associated to Severe Caries PhenotypeCompletedNCT00541060
2Amelogenesis ImperfectaRecruitingNCT01746121
3Orodental Manifestations of Rare DiseasesRecruitingNCT02397824

Search NIH Clinical Center for Amelogenesis Imperfecta


Cochrane evidence based reviews: amelogenesis imperfecta

Genetic Tests for Amelogenesis Imperfecta

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Anatomical Context for Amelogenesis Imperfecta

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MalaCards organs/tissues related to Amelogenesis Imperfecta:

33
Heart, Bone, Lung, Thyroid, Endothelial, B cells, T cells

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

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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MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.0AMBN, ENAM, FAM20A, KLK4, MMP20, WDR72
2MP:00053786.8AMBN, DLX3, ENAM, FAM20A, KLK4, MMP20

Publications for Amelogenesis Imperfecta

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Articles related to Amelogenesis Imperfecta:

(show top 50)    (show all 454)
idTitleAuthorsYear
1
Congenital adrenal hyperplasia with localized aggressive periodontitis and amelogenesis imperfecta. (26191638)
2015
2
Unusual extrinsic staining following microabrasion in a girl with amelogenesis imperfecta. (26508432)
2015
3
Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature. (25487982)
2015
4
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. (25669657)
2015
5
Interdisciplinary Care for a Patient with Amelogenesis Imperfecta: A Clinical Report. (25522047)
2014
6
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. (23375655)
2013
7
Phenotype-genotype correlations in mouse models of amelogenesis imperfecta caused by Amelx and Enam mutations. (22759786)
2012
8
Multiple unerupted teeth with amelogenesis imperfecta in siblings. (22655284)
2012
9
Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. (23251683)
2012
10
Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry. (21127961)
2011
11
Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations. (20298654)
2010
12
Interdisciplinary treatment of a patient with amelogenesis imperfecta. (21280548)
2010
13
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (19200527)
2009
14
Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta. (19530186)
2009
15
Clinical success of deproteinization in hypocalcified amelogenesis imperfecta. (19169442)
2009
16
Amelogenesis imperfecta: Report of a case and review of literature. (21887005)
2009
17
Rehabilitation of a patient with amelogenesis imperfecta using all-ceramic crowns: a clinical report. (17692589)
2007
18
Amelogenesis imperfecta. (17408482)
2007
19
Acid-etching effects in hypomineralized amelogenesis imperfecta. A microscopic and microanalytical study. (16388292)
2006
20
Oral rehabilitation of a young adult with hypoplastic amelogenesis imperfecta: a clinical report. (16399268)
2006
21
Effect of deproteinization on composite bond strength in hypocalcified amelogenesis imperfecta. (16700741)
2006
22
ENAM mutations in autosomal-dominant amelogenesis imperfecta. (15723871)
2005
23
Genes and related proteins involved in amelogenesis imperfecta. (16304440)
2005
24
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. (12952177)
2003
25
Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta. (12489199)
2002
26
Amelogenesis imperfecta with growth hormone deficiency in a 12 year-old boy. (12014527)
2002
27
Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. (12393861)
2002
28
Amelogenesis imperfecta: a scanning electron microscopic and histopathologic study. (12175124)
2002
29
Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. (12407086)
2002
30
A case of amelogenesis imperfecta of deciduous and all permanent teeth. (11484794)
2001
31
Mutational analysis of X-linked amelogenesis imperfecta in multiple families. (10669095)
2000
32
Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. (11037750)
2000
33
Immunochemical and biochemical characteristics of enamel proteins in hypocalcified amelogenesis imperfecta. (9574951)
1998
34
The effects of acid-etching on enamel from different clinical variants of amelogenesis imperfecta: an SEM study. (9524971)
1998
35
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome. (7554924)
1995
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. (8366451)
1993
38
Trichodysplasia and amelogenesis imperfecta. (8419879)
1993
39
Scanning electron microscopic study of primary teeth in X-linked amelogenesis imperfecta. (1602411)
1992
40
X-linked (recessive) hypomaturation amelogenesis imperfecta: a prosthodontic, genetic, and histopathologic report. (1800740)
1991
41
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. (1967204)
1990
42
Asymmetrical tooth defects observed in hypoplastic primary teeth and amelogenesis imperfecta: case reports. (3475684)
1987
43
Hereditary amelogenesis imperfecta. An epidemiological, genetic and clinical study in a Swedish child population. (3460191)
1986
44
Hereditary amelogenesis imperfecta. I. Oral health in children. (3466378)
1986
45
Amelogenesis imperfecta--a method of rehabilitation. (6391971)
1984
46
The treatment of hypocalcified amelogenesis imperfecta in a young adolescent. (6596421)
1984
47
X-linked hypomaturation amelogenesis imperfecta: a case report. (6932309)
1980
48
The management of children and adolescents suffering from amelogenesis imperfecta and dentinogenesis imperfecta. (4280388)
1974
49
Amelogenesis imperfecta: report of a case. (5280290)
1971
50
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

Variations for Amelogenesis Imperfecta

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Expression for genes affiliated with Amelogenesis Imperfecta

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Search GEO for disease gene expression data for Amelogenesis Imperfecta.

Pathways for genes affiliated with Amelogenesis Imperfecta

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GO Terms for genes affiliated with Amelogenesis Imperfecta

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

idNameGO IDScoreTop Affiliating Genes
1odontogenesis of dentin-containing toothGO:00424759.8AMELX, ENAM
2amelogenesisGO:00971869.7KLK4, MMP20
3biomineral tissue developmentGO:00312147.9AMBN, AMELX, FAM20A, FAM83H, KLK4

Sources for Amelogenesis 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