AI
MCID: AML002
MIFTS: 45

Amelogenesis Imperfecta (AI) malady

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

Aliases & Classifications for Amelogenesis Imperfecta

Aliases & Descriptions for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 38 12 71 50 25 56 29 52 42 14
Congenital Enamel Hypoplasia 25
Ai 25

Characteristics:

Orphanet epidemiological data:

56
amelogenesis imperfecta
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:2187
ICD10 33 K00.5
MeSH 42 D000567
SNOMED-CT 64 78494001
Orphanet 56 ORPHA88661
MESH via Orphanet 43 D000567
ICD10 via Orphanet 34 K00.5
UMLS via Orphanet 70 C0002452
UMLS 69 C0002452

Summaries for Amelogenesis Imperfecta

NIH Rare Diseases : 50 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 Tooth and Tooth, and related phenotypes are craniofacial and growth/size/body region

Disease Ontology : 12 A dental enamel hypoplasia characterized by abnormal enamel formation.

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.

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

Related Diseases for Amelogenesis Imperfecta

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)
id Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type 1e 12.5
2 amelogenesis imperfecta, type iii 12.4
3 amelogenesis imperfecta, type ig 12.4
4 amelogenesis imperfecta, type iia1 12.4
5 amelogenesis imperfecta, type iv 12.4
6 amelogenesis imperfecta, type ia 12.4
7 amelogenesis imperfecta, type iia2 12.4
8 amelogenesis imperfecta, type ib 12.4
9 amelogenesis imperfecta, type ic 12.4
10 amelogenesis imperfecta, type if 12.4
11 amelogenesis imperfecta, type iia5 12.3
12 amelogenesis imperfecta, type iia3 12.3
13 amelogenesis imperfecta, type iia4 12.3
14 amelogenesis imperfecta, type ih 12.3
15 x-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 12.3
16 amelogenesis imperfecta, hypomaturation type, 2a6 12.2
17 amelogenesis imperfecta 1j 12.2
18 hypoplastic amelogenesis imperfecta 12.1
19 amelogenesis imperfecta hypomaturation type 12.1
20 hypocalcified amelogenesis imperfecta 12.1
21 amelogenesis imperfecta local hypoplastic 12.1
22 jalili syndrome 12.0
23 amelogenesis imperfecta hypoplastic type, ig 12.0
24 trichodysplasia-amelogenesis imperfecta syndrome 11.9
25 amelogenesis imperfecta pigmented hypomaturation type 11.9
26 amelogenesis imperfecta-gingival hyperplasia syndrome 11.9
27 dental anomalies and short stature 11.7
28 kohlschutter-tonz syndrome 11.7
29 androgen insensitivity 11.7
30 autoimmune inner ear disease 11.7
31 aland island eye disease 11.5
32 verloes bourguignon syndrome 11.1
33 adolescent idiopathic scoliosis 11.1
34 hereditary amyloidosis 11.1
35 heimler syndrome 2 11.0
36 heimler syndrome 1 11.0
37 lubinsky syndrome 10.9
38 hypogonadism-cataract syndrome 10.9
39 pediatric arterial ischemic stroke 10.9
40 taurodontism 10.4
41 nephrocalcinosis 10.4
42 gingivitis 10.3
43 cone-rod dystrophy 10.3
44 periodontitis 10.2
45 arrhythmogenic right ventricular dysplasia 4 10.2 AMBN AMELX
46 eversion of lacrimal punctum 10.2 AMBN ENAM
47 trichomegaly 10.1 AMBN ENAM
48 dentinogenesis imperfecta 10.1
49 corneal staphyloma 10.1 ENAM FAM20A
50 accommodative spasm 10.1 AMBN AMELX

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



Diseases related to Amelogenesis Imperfecta

Symptoms & Phenotypes for Amelogenesis Imperfecta

MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.7 AMBN CNNM4 ENAM FAM20A KLK4 MMP20
2 growth/size/body region MP:0005378 9.56 AMBN CNNM4 DLX3 ENAM FAM20A KLK4
3 skeleton MP:0005390 9.17 AMBN CNNM4 ENAM FAM20A GPR68 KLK4

Drugs & Therapeutics for Amelogenesis Imperfecta

Interventional clinical trials:


id Name Status NCT ID Phase
1 Amelogenesis Imperfecta Unknown status NCT01746121
2 Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype Completed NCT00541060
3 Orodental Manifestations of Rare Diseases Recruiting NCT02397824
4 E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent Not yet recruiting NCT02994862

Search NIH Clinical Center for Amelogenesis Imperfecta

Cochrane evidence based reviews: amelogenesis imperfecta

Genetic Tests for Amelogenesis Imperfecta

Genetic tests related to Amelogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta 29

Anatomical Context for Amelogenesis Imperfecta

MalaCards organs/tissues related to Amelogenesis Imperfecta:

39
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 Tissue Anatomical CompartmentCell Relevance
1 Tooth Dental Enamel Ameloblasts Affected by disease
2 Tooth Dental Enamel Early Ameloblasts Affected by disease

Publications for Amelogenesis Imperfecta

Articles related to Amelogenesis Imperfecta:

(show top 50) (show all 468)
id Title Authors Year
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

Expression for Amelogenesis Imperfecta

Search GEO for disease gene expression data for Amelogenesis Imperfecta.

Pathways for Amelogenesis Imperfecta

GO Terms for Amelogenesis Imperfecta

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.5 AMBN AMELX C4orf26 ENAM FAM20A KLK4
2 endoplasmic reticulum lumen GO:0005788 9.33 AMBN AMELX ENAM
3 proteinaceous extracellular matrix GO:0005578 8.92 AMBN AMELX ENAM MMP20

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

id Name GO ID Score Top Affiliating Genes
1 odontogenesis of dentin-containing tooth GO:0042475 9.56 AMBN AMELX DLX3 ENAM
2 cellular protein metabolic process GO:0044267 9.5 AMBN AMELX ENAM
3 protein catabolic process GO:0030163 9.37 KLK4 MMP20
4 amelogenesis GO:0097186 9.33 ENAM KLK4 MMP20
5 enamel mineralization GO:0070166 9.26 AMELX CNNM4 FAM20A WDR72
6 biomineral tissue development GO:0031214 9.23 AMBN AMELX CNNM4 ENAM FAM20A FAM83H

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

id Name GO ID Score Top Affiliating Genes
1 structural constituent of tooth enamel GO:0030345 8.8 AMBN AMELX ENAM

Sources for Amelogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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