MCID: AML002
MIFTS: 45

Amelogenesis Imperfecta

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

Aliases & Classifications for Amelogenesis Imperfecta

MalaCards integrated aliases for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 38 12 76 53 25 59 37 29 55 6 44 15
Congenital Enamel Hypoplasia 25
Ai 25

Characteristics:

Orphanet epidemiological data:

59
amelogenesis imperfecta
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:2187
ICD10 33 K00.5
MeSH 44 D000567
SNOMED-CT 68 78494001
Orphanet 59 ORPHA88661
MESH via Orphanet 45 D000567
ICD10 via Orphanet 34 K00.5
UMLS via Orphanet 74 C0002452
KEGG 37 H00615
UMLS 73 C0002452

Summaries for Amelogenesis Imperfecta

NIH Rare Diseases : 53 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 with early tooth decay and loss. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. People with this disease my also have problems involving the tissues surrounding teeth (periodontal tissues) such as gums, cementum, ligaments, and alveolar bones in which the tooth root rests. Teeth are also sensitive to either hot or cold exposures, and sometimes both. Severe and continuous pain due to exposed dentin resulting from the enamel defect is present in some cases. There are 4 main types of AI that are classified based on the symptoms, X-rays appearance and  type of enamel defect. The main types are: hypoplastic (type I); hypomaturation (type II); hypocalcified (type III); and hypomaturation/hypoplasia/taurodontism (type IV). These 4 types are divided further into 17 or 18 subtypes, which are distinguished by their specific genetic cause and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern. Treatment may include dentures that cap the defects teeth (full crown restorations), orthodontic treatment, special toothpaste for the teeth sensibility and a good oral hygiene.

MalaCards based summary : Amelogenesis Imperfecta, also known as congenital enamel hypoplasia, is related to amelogenesis imperfecta, type ie and amelogenesis imperfecta, type ib. An important gene associated with Amelogenesis Imperfecta is GPR68 (G Protein-Coupled Receptor 68). Affiliated tissues include Tooth and Tooth, and related 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 : 12 A dental enamel hypoplasia characterized by abnormal enamel formation.

Wikipedia : 76 Amelogenesis imperfecta (AI) is a congenital disorder that presents with a rare abnormal formation of... more...

Related Diseases for Amelogenesis Imperfecta

Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Iv
Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Iiia
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type Ie Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Iiib
Amelogenesis Imperfecta Type 2a1

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type ie 34.5 AMELX AMELY
2 amelogenesis imperfecta, type ib 34.1 AMBN ENAM
3 brachyolmia 33.0 ENAM WDR72
4 hypocalcified amelogenesis imperfecta 32.8 AMBN ENAM FAM83H MMP20
5 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 32.7 AMBN AMELX AMELY FAM83H
6 hypoplastic amelogenesis imperfecta 32.6 AMBN DLX3 ENAM FAM20A
7 amelogenesis imperfecta, type iiia 32.2 AMBN AMELX ENAM FAM83H MMP20 WDR72
8 dental fluorosis 30.5 AMELX MMP20
9 amelogenesis imperfecta hypomaturation type 30.5 AMELX GPR68 KLK4 MMP20 ODAPH WDR72
10 amelogenesis imperfecta, type ig 12.7
11 amelogenesis imperfecta, type iv 12.7
12 amelogenesis imperfecta, hypomaturation type, iia2 12.5
13 amelogenesis imperfecta, type ia 12.5
14 amelogenesis imperfecta, type if 12.5
15 amelogenesis imperfecta, type ic 12.5
16 amelogenesis imperfecta, hypomaturation type, iia5 12.5
17 amelogenesis imperfecta, hypomaturation type, iia1 12.5
18 amelogenesis imperfecta, hypomaturation type, iia3 12.5
19 amelogenesis imperfecta, hypomaturation type, iia4 12.5
20 amelogenesis imperfecta, type ih 12.5
21 amelogenesis imperfecta hypoplastic type, ig 12.5
22 amelogenesis imperfecta, type iiib 12.4
23 amelogenesis imperfecta, type ij 12.4
24 amelogenesis imperfecta, hypomaturation type, iia6 12.4
25 amelogenesis imperfecta type 2a1 12.4
26 dental anomalies and short stature 12.3
27 amelogenesis imperfecta local hypoplastic 12.2
28 jalili syndrome 12.2
29 amelogenesis imperfecta pigmented hypomaturation type 12.0
30 amelogenesis imperfecta-gingival hyperplasia syndrome 12.0
31 trichodysplasia-amelogenesis imperfecta syndrome 12.0
32 kohlschutter-tonz syndrome 11.9
33 androgen insensitivity syndrome 11.9
34 autoimmune inner ear disease 11.8
35 aland island eye disease 11.7
36 scoliosis, isolated 1 11.4
37 trichodentoosseous syndrome 11.4
38 hypogonadism-cataract syndrome 11.4
39 lubinsky syndrome 11.4
40 hereditary amyloidosis 11.2
41 aortic valve insufficiency 11.1
42 childhood-onset cerebral x-linked adrenoleukodystrophy 11.1
43 heimler syndrome 1 11.0
44 immunodeficiency 10 11.0
45 heimler syndrome 2 11.0
46 pediatric arterial ischemic stroke 11.0
47 taurodontism 10.5
48 nephrocalcinosis 10.5
49 gingivitis 10.4
50 cone-rod dystrophy 2 10.4

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.76 ENAM FAM20A KLK4 MMP20 WDR72 AMBN
2 growth/size/body region MP:0005378 9.61 CNNM4 DLX3 ENAM FAM20A KLK4 MMP20
3 skeleton MP:0005390 9.23 ENAM FAM20A GPR68 KLK4 WDR72 AMBN

Drugs & Therapeutics for Amelogenesis Imperfecta

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Amelogenesis Imperfecta Unknown status NCT01746121
2 Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype Completed NCT00541060 Not Applicable
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 Not Applicable

Search NIH Clinical Center for Amelogenesis Imperfecta

Cochrane evidence based reviews: amelogenesis imperfecta

Genetic Tests for Amelogenesis Imperfecta

Genetic tests related to Amelogenesis Imperfecta:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta 29

Anatomical Context for Amelogenesis Imperfecta

MalaCards organs/tissues related to Amelogenesis Imperfecta:

41
Bone, 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:
# 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 496)
# Title Authors Year
1
Oral Rehabilitation of Young Adult with Amelogenesis Imperfecta. ( 29807973 )
2018
2
Amelogenesis imperfecta: therapeutic strategy from primary to permanent dentition across case reports. ( 29907114 )
2018
3
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. ( 29439260 )
2018
4
Restorative Treatment in Patients with Amelogenesis Imperfecta: A Review. ( 29377372 )
2018
5
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta. ( 29421294 )
2018
6
Diagnosis, Treatment Planning, and Full-mouth Rehabilitation in a Case of Amelogenesis Imperfecta. ( 29599599 )
2018
7
Amelogenesis Imperfecta: A Novel FAM83H Mutation and Characteristics of Periodontal Ligament Cells. ( 29949226 )
2018
8
Novel FAM83H mutations in patients with amelogenesis imperfecta. ( 28729668 )
2017
9
Functional and esthetic rehabilitation of a child with amelogenesis imperfecta: a case report. ( 28475095 )
2017
10
Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta. ( 28771955 )
2017
11
Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome? ( 28553046 )
2017
12
Effect of etching on bonding of a self-etch adhesive to dentine affected by amelogenesis imperfecta. ( 28608463 )
2017
13
Amelogenesis Imperfecta; Genes, Proteins, and Pathways. ( 28694781 )
2017
14
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta. ( 28659819 )
2017
15
Amelogenesis Imperfecta: Case Study. ( 28829932 )
2017
16
Alternative prosthodontic-based treatment of a patient with hypocalcified type Amelogenesis Imperfecta. ( 28680602 )
2017
17
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. ( 28513613 )
2017
18
Amelogenesis Imperfecta: A Non-Invasive Approach to Improve Esthetics in Young Patients. Report of Two Cases. ( 28872982 )
2017
19
Correction: Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 28947560 )
2017
20
Amelogenesis imperfecta in the dentition of a wild chimpanzee. ( 29112236 )
2017
21
Association of Amelogenesis Imperfecta and Bartter's Syndrome. ( 28904439 )
2017
22
Conservative anterior treatment with CAD-CAM technology and polymer-infiltrated ceramic for a child with amelogenesis imperfecta: A 2-year follow-up. ( 28967409 )
2017
23
A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. ( 28130977 )
2017
24
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. ( 28334996 )
2017
25
Complete rehabilitation of compromised full dentitions with adhesively bonded all-ceramic single-tooth restorations: Long-term outcome in patients with and without amelogenesis imperfecta. ( 29275170 )
2017
26
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. ( 28473773 )
2017
27
Treating the Amelogenesis Imperfecta Patient . ( 29185648 )
2016
28
Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression. ( 27146352 )
2016
29
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
30
Noninvasive esthetic treatment for hypomaturation amelogenesis imperfecta: a case report. ( 27814261 )
2016
31
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 27530400 )
2016
32
Chairside treatment of amelogenesis imperfecta, including establishment of a new vertical dimension with resin nanoceramic and intraoral scanning. ( 27112411 )
2016
33
Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool. ( 27259663 )
2016
34
Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta. ( 26762616 )
2016
35
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
36
Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth. ( 27281036 )
2016
37
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. ( 27693231 )
2016
38
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. ( 27843125 )
2016
39
Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. ( 27550338 )
2016
40
Amelogenesis Imperfecta and Early Restorative Crown Therapy: An Interview Study with Adolescents and Young Adults on Their Experiences. ( 27359125 )
2016
41
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. ( 27412008 )
2016
42
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. ( 27558265 )
2016
43
Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta. ( 27224574 )
2016
44
A Rare Case: Epidermolysis Bullosa in a Child Patient with Amelogenesis Imperfecta. ( 27617510 )
2016
45
Isolation and characterization of dental epithelial cellsA derived from amelogenesis imperfecta rat. ( 26582753 )
2016
46
Management of Amelogenesis Imperfecta: A 15-Year Case History of Two Siblings. ( 27589272 )
2016
47
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report. ( 25636655 )
2015
48
Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta. ( 26124219 )
2015
49
Crown lengthening procedure in the management of amelogenesis imperfecta. ( 26538965 )
2015
50
Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report. ( 26097369 )
2015

Variations for Amelogenesis Imperfecta

ClinVar genetic disease variations for Amelogenesis Imperfecta:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPR68 NM_001177676.1(GPR68): c.386_835del450 (p.Phe129_Asn278del) deletion Pathogenic GRCh38 Chromosome 14, 91234216: 91234665
2 GPR68 NM_001177676.1(GPR68): c.386_835del450 (p.Phe129_Asn278del) deletion Pathogenic GRCh37 Chromosome 14, 91700560: 91701009
3 GPR68 NM_001177676.1(GPR68): c.667_668delAA (p.Lys223Glyfs) deletion Pathogenic rs1057517671 GRCh37 Chromosome 14, 91700727: 91700728
4 GPR68 NM_001177676.1(GPR68): c.667_668delAA (p.Lys223Glyfs) deletion Pathogenic rs1057517671 GRCh38 Chromosome 14, 91234383: 91234384
5 GPR68 NM_001177676.1(GPR68): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057517672 GRCh38 Chromosome 14, 91234830: 91234830
6 GPR68 NM_001177676.1(GPR68): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057517672 GRCh37 Chromosome 14, 91701174: 91701174
7 DLX3 NM_005220.2(DLX3): c.574dupG (p.Glu192Glyfs) duplication Likely pathogenic rs1057518764 GRCh38 Chromosome 17, 49991807: 49991807
8 DLX3 NM_005220.2(DLX3): c.574dupG (p.Glu192Glyfs) duplication Likely pathogenic rs1057518764 GRCh37 Chromosome 17, 48069171: 48069171
9 WDR72 NM_182758.3(WDR72): c.88C> T (p.Arg30Ter) single nucleotide variant Likely pathogenic rs770804941 GRCh38 Chromosome 15, 53733062: 53733062
10 WDR72 NM_182758.3(WDR72): c.88C> T (p.Arg30Ter) single nucleotide variant Likely pathogenic rs770804941 GRCh37 Chromosome 15, 54025259: 54025259

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:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.17 AMBN AMELX ENAM FAM20A KLK4 MMP20
2 endoplasmic reticulum lumen GO:0005788 9.13 AMBN AMELX ENAM

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.58 AMBN AMELX ENAM
2 odontogenesis of dentin-containing tooth GO:0042475 9.56 AMBN AMELX DLX3 ENAM
3 protein catabolic process GO:0030163 9.43 KLK4 MMP20
4 positive regulation of enamel mineralization GO:0070175 9.37 ENAM ODAPH
5 amelogenesis GO:0097186 9.33 ENAM KLK4 MMP20
6 tooth mineralization GO:0034505 9.32 AMELX AMELY
7 biomineral tissue development GO:0031214 9.28 AMBN AMELX AMELY CNNM4 ENAM FAM20A
8 enamel mineralization GO:0070166 9.26 AMELX CNNM4 FAM20A WDR72

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of tooth enamel GO:0030345 8.92 AMBN AMELX AMELY ENAM

Sources for Amelogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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