MCID: AML002
MIFTS: 46

Amelogenesis Imperfecta

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

Aliases & Classifications for Amelogenesis Imperfecta

MalaCards integrated aliases for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 39 12 77 54 26 60 38 30 56 6 45 15
Congenital Enamel Hypoplasia 26
Ai 26

Characteristics:

Orphanet epidemiological data:

60
amelogenesis imperfecta
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:2187
KEGG 38 H00615
MeSH 45 D000567
SNOMED-CT 69 78494001
ICD10 34 K00.5
MESH via Orphanet 46 D000567
ICD10 via Orphanet 35 K00.5
UMLS via Orphanet 75 C0002452
Orphanet 60 ORPHA88661
UMLS 74 C0002452

Summaries for Amelogenesis Imperfecta

NIH Rare Diseases : 54 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 teeth (full crown restorations), orthodontic treatment, special toothpaste for the tooth sensitivity, and good oral hygiene.

MalaCards based summary : Amelogenesis Imperfecta, also known as congenital enamel hypoplasia, is related to amelogenesis imperfecta, type ib and amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2. 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

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

Genetics Home Reference : 26 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 : 77 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 Iiic Amelogenesis Imperfecta Type 2a1

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

(show top 50) (show all 231)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type ib 34.2 AMBN ENAM
2 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 33.7 AMBN AMELX FAM83H
3 amelogenesis imperfecta, type iiia 33.3 AMBN AMELX ENAM FAM83H MMP20 WDR72
4 hypocalcified amelogenesis imperfecta 33.2 AMBN ENAM FAM83H MMP20
5 brachyolmia 32.8 ENAM WDR72
6 amelogenesis imperfecta hypomaturation type 32.6 AMELX GPR68 KLK4 MMP20 ODAPH WDR72
7 hypoplastic amelogenesis imperfecta 32.4 AMBN DLX3 ENAM FAM20A LAMB3
8 dental fluorosis 29.9 AMBN AMELX MMP20
9 amelogenesis imperfecta, type ie 12.9
10 amelogenesis imperfecta, type iv 12.8
11 amelogenesis imperfecta, type ig 12.8
12 amelogenesis imperfecta, hypomaturation type, iia2 12.8
13 amelogenesis imperfecta, type ia 12.8
14 amelogenesis imperfecta, type if 12.8
15 amelogenesis imperfecta, type ic 12.8
16 amelogenesis imperfecta, hypomaturation type, iia1 12.8
17 amelogenesis imperfecta, hypomaturation type, iia5 12.8
18 amelogenesis imperfecta, hypomaturation type, iia3 12.8
19 amelogenesis imperfecta, hypomaturation type, iia4 12.8
20 amelogenesis imperfecta, type ih 12.8
21 amelogenesis imperfecta, type ij 12.7
22 amelogenesis imperfecta, type iiib 12.7
23 amelogenesis imperfecta, hypomaturation type, iia6 12.7
24 amelogenesis imperfecta hypoplastic type, ig 12.6
25 amelogenesis imperfecta, type iiic 12.6
26 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 12.6
27 amelogenesis imperfecta type 2a1 12.5
28 dental anomalies and short stature 12.5
29 amelogenesis imperfecta local hypoplastic 12.4
30 jalili syndrome 12.4
31 kohlschutter-tonz syndrome 12.3
32 epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 12.2
33 amelogenesis imperfecta pigmented hypomaturation type 12.2
34 trichodysplasia-amelogenesis imperfecta syndrome 12.2
35 aland island eye disease 12.1
36 androgen insensitivity syndrome 12.1
37 autoimmune inner ear disease 11.9
38 scoliosis, isolated 1 11.7
39 trichodentoosseous syndrome 11.6
40 hypogonadism-cataract syndrome 11.6
41 lubinsky syndrome 11.6
42 hypomagnesemia 5, renal, with or without ocular involvement 11.6
43 aortic valve insufficiency 11.3
44 hereditary amyloidosis 11.3
45 childhood-onset cerebral x-linked adrenoleukodystrophy 11.3
46 heimler syndrome 1 11.2
47 hypomagnesemia 3, renal 11.2
48 immunodeficiency 10 11.2
49 heimler syndrome 2 11.2
50 pediatric arterial ischemic stroke 11.2

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.81 AMBN CNNM4 ENAM FAM20A FAM83H KLK4
2 growth/size/body region MP:0005378 9.65 AMBN CNNM4 DLX3 ENAM FAM20A FAM83H
3 skeleton MP:0005390 9.28 AMBN CNNM4 ENAM FAM20A FAM83H GPR68

Drugs & Therapeutics for Amelogenesis Imperfecta

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent Unknown status NCT02994862 Not Applicable
2 Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype Completed NCT00541060 Not Applicable
3 Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants Recruiting NCT03810859 Not Applicable
4 Orodental Manifestations of Rare Diseases Recruiting NCT02397824
5 Amelogenesis Imperfecta Terminated NCT01746121

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 30

Anatomical Context for Amelogenesis Imperfecta

MalaCards organs/tissues related to Amelogenesis Imperfecta:

42
Bone, Kidney, Liver, Heart, Prostate, Skin, Breast
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 532)
# Title Authors Year
1
Mutations in RELT cause autosomal recessive amelogenesis imperfecta. ( 30506946 )
2019
2
Skeletal open bite with amelogenesis imperfecta treated with compression osteogenesis: a case report. ( 30691484 )
2019
3
Experiences of Being a Parent to a Child with Amelogenesis Imperfecta. ( 30744129 )
2019
4
WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis. ( 30779877 )
2019
5
Rehabilitation of a patient with amelogenesis imperfecta and severe open bite: A multidisciplinary approach. ( 30847189 )
2019
6
Full-mouth Rehabilitation of Hypocalcified-type Amelogenesis Imperfecta With Chairside Computer-aided Design and Computer-aided Manufacturing: A Case Report. ( 30849013 )
2019
7
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. ( 30877375 )
2019
8
Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta. ( 30905256 )
2019
9
Dental age estimation by different methods in patients with amelogenesis imperfecta. ( 30927721 )
2019
10
Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta. ( 30970114 )
2019
11
Management of Amelogenesis Imperfecta in Adolescent Patients: Clinical Report. ( 31054208 )
2019
12
Etching Patterns of Sodium Hypochlorite Pretreated Hypocalcified Amelogenesis Imperfecta Primary Molars: SEM Study. ( 31094633 )
2019
13
14. Prosthetic rehabilitation of amelogenesis imperfecta- restoring function and esthetics- a case report. ( 30602886 )
2018
14
Amelogenesis Imperfecta: A Case Series from the Community. ( 31065148 )
2018
15
Effect of etching on bonding of a self-etch adhesive to dentine affected by amelogenesis imperfecta. ( 28608463 )
2018
16
Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta. ( 28771955 )
2018
17
Conservative anterior treatment with CAD-CAM technology and polymer-infiltrated ceramic for a child with amelogenesis imperfecta: A 2-year follow-up. ( 28967409 )
2018
18
Amelogenesis imperfecta in the dentition of a wild chimpanzee. ( 29112236 )
2018
19
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 )
2018
20
Restorative Treatment in Patients with Amelogenesis Imperfecta: A Review. ( 29377372 )
2018
21
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. ( 29421294 )
2018
22
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. ( 29439260 )
2018
23
Diagnosis, Treatment Planning, and Full-mouth Rehabilitation in a Case of Amelogenesis Imperfecta. ( 29599599 )
2018
24
Oral Rehabilitation of Young Adult with Amelogenesis Imperfecta. ( 29807973 )
2018
25
Amelogenesis imperfecta: therapeutic strategy from primary to permanent dentition across case reports. ( 29907114 )
2018
26
Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells. ( 29949226 )
2018
27
An Interdisciplinary Approach for Hypoplastic Amelogenesis Imperfecta: A Case Report. ( 29988328 )
2018
28
Crown therapy in young individuals with amelogenesis imperfecta: Long term follow-up of a randomized controlled trial. ( 30004001 )
2018
29
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. ( 30082715 )
2018
30
Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome. ( 30095208 )
2018
31
Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. ( 30120606 )
2018
32
Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists. ( 30141472 )
2018
33
Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders. ( 30174330 )
2018
34
A novel FAM83H mutation in one Chinese family with autosomal-dominant hypocalcification amelogenesis imperfecta. ( 30247735 )
2018
35
Parental Perception of Children Affected by Amelogenesis Imperfecta (AI) and Dentinogenesis Imperfecta (DI): A Qualitative Study. ( 30453633 )
2018
36
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 27530400 )
2017
37
A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. ( 28130977 )
2017
38
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. ( 28334996 )
2017
39
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. ( 28473773 )
2017
40
Functional and esthetic rehabilitation of a child with amelogenesis imperfecta: a case report. ( 28475095 )
2017
41
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. ( 28513613 )
2017
42
Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome? ( 28553046 )
2017
43
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta. ( 28659819 )
2017
44
Alternative prosthodontic-based treatment of a patient with hypocalcified type Amelogenesis Imperfecta. ( 28680602 )
2017
45
Amelogenesis Imperfecta; Genes, Proteins, and Pathways. ( 28694781 )
2017
46
Novel FAM83H mutations in patients with amelogenesis imperfecta. ( 28729668 )
2017
47
Amelogenesis Imperfecta: Case Study. ( 28829932 )
2017
48
Amelogenesis Imperfecta: A Non-Invasive Approach to Improve Esthetics in Young Patients. Report of Two Cases. ( 28872982 )
2017
49
Association of Amelogenesis Imperfecta and Bartter's Syndrome. ( 28904439 )
2017
50
Erratum: Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 28947560 )
2017

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 rs1555409827 GRCh38 Chromosome 14, 91234216: 91234665
2 GPR68 NM_001177676.1(GPR68): c.386_835del450 (p.Phe129_Asn278del) deletion Pathogenic rs1555409827 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 matrix GO:0031012 9.33 AMELX ENAM MMP20
2 extracellular region GO:0005576 9.23 AMBN AMELX ENAM FAM20A KLK4 LAMB3
3 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 odontogenesis of dentin-containing tooth GO:0042475 9.56 AMBN AMELX DLX3 ENAM
2 cellular protein metabolic process GO:0044267 9.54 AMBN AMELX ENAM
3 extracellular matrix disassembly GO:0022617 9.43 KLK4 MMP20
4 protein catabolic process GO:0030163 9.4 KLK4 MMP20
5 amelogenesis GO:0097186 9.33 ENAM KLK4 MMP20
6 positive regulation of enamel mineralization GO:0070175 9.32 ENAM ODAPH
7 enamel mineralization GO:0070166 9.26 AMELX CNNM4 FAM20A WDR72
8 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:

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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