MCID: AML002
MIFTS: 43

Amelogenesis Imperfecta malady

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

Aliases & Classifications for Amelogenesis Imperfecta

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Sources:
33LifeMap Discovery®, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
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Aliases & Descriptions for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 33 11 69 46 24 13 52 25 48 37
Congenital Enamel Hypoplasia 24
 
Aortic Valve Insufficiency 66
Ai 24

Characteristics:

Orphanet epidemiological data:

52
amelogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:2187
ICD1028 K00.5
MeSH37 D000567
Orphanet52 ORPHA88661
SNOMED-CT60 78494001
UMLS via Orphanet67 C0002452
ICD10 via Orphanet29 K00.5
MESH via Orphanet38 D000567

Summaries for Amelogenesis Imperfecta

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NIH Rare Diseases:46 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, type 1e and amelogenesis imperfecta, type iv, and has symptoms including diastolic murmurs An important gene associated with Amelogenesis Imperfecta is AMELX (Amelogenin, X-Linked). Affiliated tissues include skin and kidney, and related mouse phenotypes are craniofacial and growth/size/body region.

Disease Ontology:11 A dental enamel hypoplasia characterized by abnormal enamel formation.

Genetics Home Reference:24 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:69 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 103)
idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta, type 1e12.4
2amelogenesis imperfecta, type iv12.4
3amelogenesis imperfecta, type iia112.4
4amelogenesis imperfecta, type iii12.4
5amelogenesis imperfecta, type ib12.4
6amelogenesis imperfecta, type ic12.4
7amelogenesis imperfecta, type ig12.4
8amelogenesis imperfecta, type iia212.3
9amelogenesis imperfecta, type iia312.3
10amelogenesis imperfecta, type iia412.3
11amelogenesis imperfecta, type ia12.3
12amelogenesis imperfecta, type if12.3
13amelogenesis imperfecta, type ih12.3
14amelogenesis imperfecta, type iia512.3
15amelogenesis imperfecta hypomaturation type12.3
16hypoplastic amelogenesis imperfecta12.2
17hypocalcified amelogenesis imperfecta12.2
18amelogenesis imperfecta nephrocalcinosis12.2
19amelogenesis imperfecta local hypoplastic12.2
20amelogenesis imperfecta hypoplastic type, ig12.1
21amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 212.1
22amelogenesis imperfecta pigmented hypomaturation type12.0
23trichodysplasia-amelogenesis imperfecta syndrome12.0
24jalili syndrome12.0
25androgen insensitivity11.7
26dental anomalies and short stature11.7
27kohlschutter-tonz syndrome11.6
28aland island eye disease11.4
29autoimmune inner ear disease11.4
30verloes bourguignon syndrome11.3
31adolescent idiopathic scoliosis11.2
32moved to11.0
33hypogonadism-cataract syndrome11.0
34lubinsky syndrome11.0
35pediatric arterial ischemic stroke11.0
36amish infantile epilepsy syndrome10.9
37taurodontism10.5
38nephrocalcinosis10.5
39gingivitis10.5
40hereditary amyloidosis10.4
41cone-rod dystrophy10.4
42periodontitis10.3
43cerebritis10.3
44dentinogenesis imperfecta10.3
45cyclosporiasis10.3ENAM, FAM20A
46amyloidosis10.3
47neuronitis10.2
48polyneuropathy in collagen vascular disease10.2AMELX, ENAM
49mature cataract10.2AMELX, MMP20
50dentin dysplasia10.2

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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Genetic tests related to Amelogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta25

Anatomical Context for Amelogenesis Imperfecta

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MalaCards organs/tissues related to Amelogenesis Imperfecta:

34
Skin, Kidney

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.3CNNM4, ENAM, FAM20A, MMP20, WDR72
2MP:00053787.3CNNM4, DLX3, ENAM, FAM20A, MMP20, WDR72

Publications for Amelogenesis Imperfecta

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Articles related to Amelogenesis Imperfecta:

(show top 50)    (show all 465)
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
Microtensile Bond Strength to Enamel Affected by Hypoplastic Amelogenesis Imperfecta. (24027770)
2013
7
Multiple unerupted teeth with amelogenesis imperfecta in siblings. (22655284)
2012
8
Prosthodontic management of patients with amelogenesis imperfecta. (23951803)
2012
9
Amelogenesis imperfecta: a clinician's challenge. (22565521)
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
MMP20 hemopexin domain mutation in amelogenesis imperfecta. (19966041)
2010
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
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal- recessive cone-rod dystrophy and amelogenesis imperfecta. (19200525)
2009
17
The relationship of amelogenesis imperfecta and nephrocalcinosis syndrome. (19680205)
2009
18
Rehabilitation of a patient with amelogenesis imperfecta using all-ceramic crowns: a clinical report. (17692589)
2007
19
Amelogenesis imperfecta. (17408482)
2007
20
Rat wct mutation induces a hypo-mineralization form of amelogenesis imperfecta and cyst formation in molar teeth. (17710440)
2007
21
Oral rehabilitation of a young adult with hypoplastic amelogenesis imperfecta: a clinical report. (16399268)
2006
22
Restorative therapy of primary teeth severely affected by amelogenesis imperfecta. (16536150)
2006
23
ENAM mutations in autosomal-dominant amelogenesis imperfecta. (15723871)
2005
24
Amelogenesis imperfecta and unusual gingival hyperplasia. (16171448)
2005
25
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. (12952177)
2003
26
Subunit structures in hydroxyapatite crystal development in enamel: implications for amelogenesis imperfecta. (12952176)
2003
27
Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta. (12489199)
2002
28
Amelogenesis imperfecta with growth hormone deficiency in a 12 year-old boy. (12014527)
2002
29
Amelogenesis imperfecta: a scanning electron microscopic and histopathologic study. (12175124)
2002
30
Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. (12407086)
2002
31
A case of amelogenesis imperfecta of deciduous and all permanent teeth. (11484794)
2001
32
Hypomaturation amelogenesis imperfecta: account of a family with an X-linked inheritance pattern. (10863398)
1999
33
Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines, a second case report of Heimler's syndrome. (10636745)
1999
34
The effects of acid-etching on enamel from different clinical variants of amelogenesis imperfecta: an SEM study. (9524971)
1998
35
Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. (7782077)
1995
36
Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q. (7833920)
1994
37
Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. (8375104)
1993
38
KohlschA1tter-TAPnz syndrome: epilepsy, dementia, and amelogenesis imperfecta. (8357021)
1993
39
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. (1967204)
1990
40
Amelogenesis imperfecta: multiple impactions associated with odontogenic fibromas (WHO) type. (2098937)
1990
41
A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. (3236364)
1988
42
Dental management of hypoplastic Amelogenesis imperfecta with a simplified acid etch composite resin technique. (3078329)
1987
43
Amelogenesis imperfecta with progressive root resorption. (3475083)
1987
44
Hereditary amelogenesis imperfecta. An epidemiological, genetic and clinical study in a Swedish child population. (3460191)
1986
45
Hereditary aspects and classification of hereditary amelogenesis imperfecta. (3461907)
1986
46
Amelogenesis imperfecta--a method of rehabilitation. (6391971)
1984
47
The treatment of hypocalcified amelogenesis imperfecta in a young adolescent. (6596421)
1984
48
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
49
Some observations on amelogenesis imperfecta and calcification of the dental enamel. (13379391)
1956
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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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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Cellular components related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.4AMELX, ENAM, MMP20

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

idNameGO IDScoreTop Affiliating Genes
1amelogenesisGO:00971869.8ENAM, MMP20
2biomineral tissue developmentGO:00312149.0AMELX, ENAM, FAM20A, FAM83H
3enamel mineralizationGO:00701668.8AMELX, CNNM4, FAM20A, WDR72
4odontogenesis of dentin-containing toothGO:00424758.7AMELX, DLX3, ENAM

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of tooth enamelGO:00303459.8AMELX, ENAM

Sources for Amelogenesis Imperfecta

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet