AI
MCID: AML002
MIFTS: 45

Amelogenesis Imperfecta (AI) malady

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

Aliases & Classifications for Amelogenesis Imperfecta

About this section
Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 35LifeMap Discovery®, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 35 11 71 48 25 54 27 50 39 13
Congenital Enamel Hypoplasia 25
 
Ai 25

Characteristics:

Orphanet epidemiological data:

54
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
ICD1030 K00.5
MeSH39 D000567
Orphanet54 ORPHA88661
SNOMED-CT62 78494001
MESH via Orphanet40 D000567
ICD10 via Orphanet31 K00.5
UMLS via Orphanet69 C0002452

Summaries for Amelogenesis Imperfecta

About this section
NIH Rare Diseases:48 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 iii. 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.

Genetics Home Reference:25 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.

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

Wikipedia:71 Amelogenesis imperfecta (AI) presents with a rare abnormal formation of the enamel or external layer of... more...

Related Diseases for Amelogenesis Imperfecta

About this section

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 Amelogenesis Imperfecta 1j

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

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta, type 1e12.5
2amelogenesis imperfecta, type iii12.4
3amelogenesis imperfecta, type ig12.4
4amelogenesis imperfecta, type iia112.4
5amelogenesis imperfecta, type iv12.4
6amelogenesis imperfecta, type ia12.4
7amelogenesis imperfecta, type iia212.4
8amelogenesis imperfecta, type ib12.4
9amelogenesis imperfecta, type ic12.4
10amelogenesis imperfecta, type if12.4
11amelogenesis imperfecta, type iia512.3
12amelogenesis imperfecta, type iia412.3
13amelogenesis imperfecta, type iia312.3
14amelogenesis imperfecta, type ih12.3
15x-linked amelogenesis imperfecta hypoplastic/hypomaturation 212.3
16amelogenesis imperfecta, hypomaturation type, 2a612.2
17amelogenesis imperfecta 1j12.2
18hypoplastic amelogenesis imperfecta12.1
19amelogenesis imperfecta hypomaturation type12.1
20hypocalcified amelogenesis imperfecta12.1
21amelogenesis imperfecta local hypoplastic12.1
22jalili syndrome12.0
23amelogenesis imperfecta hypoplastic type, ig12.0
24amelogenesis imperfecta pigmented hypomaturation type11.9
25amelogenesis imperfecta-gingival hyperplasia syndrome11.9
26trichodysplasia-amelogenesis imperfecta syndrome11.9
27dental anomalies and short stature11.7
28kohlschutter-tonz syndrome11.7
29androgen insensitivity11.7
30autoimmune inner ear disease11.7
31aland island eye disease11.5
32verloes bourguignon syndrome11.1
33adolescent idiopathic scoliosis11.1
34hereditary amyloidosis11.1
35heimler syndrome 211.0
36heimler syndrome 111.0
37hypogonadism-cataract syndrome10.9
38lubinsky syndrome10.9
39pediatric arterial ischemic stroke10.9
40taurodontism10.4
41nephrocalcinosis10.4
42gingivitis10.3
43cone-rod dystrophy10.3
44periodontitis10.2
45arrhythmogenic right ventricular dysplasia 410.2AMBN, AMELX
46eversion of lacrimal punctum10.2AMBN, ENAM
47trichomegaly10.1AMBN, ENAM
48dentinogenesis imperfecta10.1
49corneal staphyloma10.1ENAM, FAM20A
50accommodative spasm10.1AMBN, AMELX

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



Diseases related to amelogenesis imperfecta

Symptoms & Phenotypes for Amelogenesis Imperfecta

About this section

MGI Mouse Phenotypes related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053827.9AMBN, CNNM4, ENAM, FAM20A, KLK4, MMP20
2MP:00053787.4AMBN, CNNM4, DLX3, ENAM, FAM20A, KLK4
3MP:00053906.9AMBN, CNNM4, ENAM, FAM20A, GPR68, KLK4

Drugs & Therapeutics for Amelogenesis Imperfecta

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Amelogenesis ImperfectaUnknown statusNCT01746121
2Study of Factors of Genetic Susceptibility Associated to Severe Caries PhenotypeCompletedNCT00541060
3Orodental Manifestations of Rare DiseasesRecruitingNCT02397824
4E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing AgentNot yet recruitingNCT02994862

Search NIH Clinical Center for Amelogenesis Imperfecta


Cochrane evidence based reviews: amelogenesis imperfecta

Genetic Tests for Amelogenesis Imperfecta

About this section

Genetic tests related to Amelogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta27

Anatomical Context for Amelogenesis Imperfecta

About this section

MalaCards organs/tissues related to Amelogenesis Imperfecta:

36
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

Publications for Amelogenesis Imperfecta

About this section

Articles related to Amelogenesis Imperfecta:

(show top 50)    (show all 468)
idTitleAuthorsYear
1
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. (27693231)
2016
2
Management of Amelogenesis Imperfecta: A 15-Year Case History of Two Siblings. (27589272)
2016
3
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. (27558265)
2016
4
Amelogenesis Imperfecta and Early Restorative Crown Therapy: An Interview Study with Adolescents and Young Adults on Their Experiences. (27359125)
2016
5
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. (27412008)
2016
6
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. (27843125)
2016
7
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. (27530400)
2016
8
Isolation and characterization of dental epithelial cellsA derived from amelogenesis imperfecta rat. (26582753)
2016
9
Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. (27550338)
2016
10
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. (27129268)
2016
11
Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth. (27281036)
2016
12
Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression. (27146352)
2016
13
Treatment of teeth in the esthetic zone in a patient with amelogenesis imperfecta using composite veneers and the clear matrix technique: A case report. (27295917)
2016
14
A Rare Case: Epidermolysis Bullosa in a Child Patient with Amelogenesis Imperfecta. (27617510)
2016
15
Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta. (27224574)
2016
16
Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool. (27259663)
2016
17
Noninvasive esthetic treatment for hypomaturation amelogenesis imperfecta: a case report. (27814261)
2016
18
Chairside treatment of amelogenesis imperfecta, including establishment of a new vertical dimension with resin nanoceramic and intraoral scanning. (27112411)
2016
19
Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta. (26762616)
2016
20
Crown lengthening procedure in the management of amelogenesis imperfecta. (26538965)
2015
21
Full-mouth adhesive rehabilitation in a case of amelogenesis imperfecta: a 5-year follow-up case report. (25625125)
2015
22
Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta. (25431241)
2015
23
Oral health-related quality of life before and after crown therapy in young patients with amelogenesis imperfecta. (26651486)
2015
24
Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta. (25769099)
2015
25
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation. (25442250)
2015
26
Congenital adrenal hyperplasia with localized aggressive periodontitis and amelogenesis imperfecta. (26191638)
2015
27
Amelogenesis Imperfecta: Rehabilitation and Brainstorming on the Treatment Outcome after the First Year. (26783475)
2015
28
Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta. (25827751)
2015
29
Aesthetic and functional rehabilitation of the primary dentition affected by amelogenesis imperfecta. (25705526)
2015
30
Evolutionary analysis of selective constraints identifies ameloblastin (AMBN) as a potential candidate for amelogenesis imperfecta. (26223266)
2015
31
Amelogenesis Imperfecta, Facial Esthetics and Snap-On Smile. (26433999)
2015
32
Ceramic Veneers and Direct-Composite Cases of Amelogenesis Imperfecta Rehabilitation. (26652016)
2015
33
Rehabilitation of a patient with amelogenesis imperfecta using porcelain veneers and CAD/CAM polymer restorations: A clinical report. (26345104)
2015
34
Unusual extrinsic staining following microabrasion in a girl with amelogenesis imperfecta. (26508432)
2015
35
Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature. (25487982)
2015
36
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. (25669657)
2015
37
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report. (25636655)
2015
38
Amelogenesis Imperfecta with Coronal Resorption: Report of Three Cases. (26856001)
2015
39
Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity. (24494736)
2015
40
Comprehensive rehabilitation of a case of Amelogenesis imperfecta. (26858494)
2015
41
Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta. (26124219)
2015
42
Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report. (26097369)
2015
43
Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report. (26389061)
2015
44
A rare association - amelogenesis imperfecta, platispondyly and bicytopenia: a case report. (26511208)
2015
45
A Randomized Controlled Trial of Crown Therapy in Young Individuals with Amelogenesis Imperfecta. (25924855)
2015
46
Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease. (25275257)
2014
47
No trial evidence for restorative interventions in children and adolescents with amelogenesis imperfecta. (24971855)
2014
48
Esthetic Treatment of a Diffuse Amelogenesis Imperfecta Using Pressed Lithium Disilicate and Feldspathic Ceramic Restorations: 5-Year Follow Up. (24754374)
2014
49
Interdisciplinary approach to oral rehabilitation of patient with amelogenesis imperfecta. (24851390)
2014
50
Full mouth rehabilitation of a patient with amelogenesis imperfecta: a case report. (25214738)
2014

Variations for Amelogenesis Imperfecta

About this section

Expression for genes affiliated with Amelogenesis Imperfecta

About this section
Search GEO for disease gene expression data for Amelogenesis Imperfecta.

Pathways for genes affiliated with Amelogenesis Imperfecta

About this section

GO Terms for genes affiliated with Amelogenesis Imperfecta

About this section

Cellular components related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:000578810.2AMBN, AMELX, ENAM
2proteinaceous extracellular matrixGO:00055789.1AMBN, AMELX, ENAM, MMP20
3extracellular regionGO:00055768.4AMBN, AMELX, C4orf26, ENAM, FAM20A, KLK4

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

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:00442679.9AMBN, AMELX, ENAM
2amelogenesisGO:00971869.9ENAM, KLK4, MMP20
3protein catabolic processGO:00301639.6KLK4, MMP20
4odontogenesis of dentin-containing toothGO:00424759.5AMBN, AMELX, DLX3, ENAM
5enamel mineralizationGO:00701669.0AMELX, CNNM4, FAM20A, WDR72
6biomineral tissue developmentGO:00312147.4AMBN, AMELX, CNNM4, ENAM, FAM20A, FAM83H

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of tooth enamelGO:00303459.4AMBN, AMELX, ENAM

Sources for Amelogenesis Imperfecta

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet