MCID: AML002
MIFTS: 44

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 72 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
UMLS via Orphanet 70 C0002452
ICD10 via Orphanet 34 K00.5
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 ic and amelogenesis imperfecta pigmented hypomaturation type. 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 : 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 : 72 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 Iiib Amelogenesis Imperfecta, Type if
Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Ic
Amelogenesis Imperfecta, Type Iiia 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 96)
id Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type ic 33.9 AMBN ENAM
2 amelogenesis imperfecta pigmented hypomaturation type 30.6 AMELX GPR68 KLK4 MMP20 ODAPH WDR72
3 amelogenesis imperfecta, type 1e 12.4
4 amelogenesis imperfecta, type iiia 12.4
5 amelogenesis imperfecta, type ig 12.4
6 amelogenesis imperfecta, type iv 12.4
7 amelogenesis imperfecta, type iia1 12.4
8 amelogenesis imperfecta, type ia 12.4
9 amelogenesis imperfecta, type iia2 12.4
10 amelogenesis imperfecta, type ib 12.4
11 amelogenesis imperfecta, type if 12.4
12 amelogenesis imperfecta, type iia4 12.3
13 amelogenesis imperfecta, type iia3 12.3
14 amelogenesis imperfecta, type iia5 12.3
15 amelogenesis imperfecta, type ih 12.3
16 amelogenesis imperfecta, hypomaturation type, iia6 12.3
17 amelogenesis imperfecta, type ij 12.3
18 x-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 12.2
19 amelogenesis imperfecta hypoplastic type, ig 12.2
20 amelogenesis imperfecta, type iiib 12.1
21 amelogenesis imperfecta hypomaturation type 12.1
22 hypoplastic amelogenesis imperfecta 12.1
23 hypocalcified amelogenesis imperfecta 12.1
24 amelogenesis imperfecta local hypoplastic 12.1
25 jalili syndrome 12.0
26 trichodysplasia-amelogenesis imperfecta syndrome 11.9
27 dental anomalies and short stature 11.8
28 androgen insensitivity 11.8
29 verloes bourguignon syndrome 11.7
30 kohlschutter-tonz syndrome 11.7
31 autoimmune inner ear disease 11.7
32 aland island eye disease 11.5
33 brachyolmia 11.4
34 tricho-dento-osseous syndrome 11.3
35 adolescent idiopathic scoliosis 11.1
36 hereditary amyloidosis 11.1
37 aortic valve insufficiency 11.0
38 heimler syndrome 2 10.9
39 heimler syndrome 1 10.9
40 immunodeficiency 10 10.9
41 moved to 204690 10.9
42 pediatric arterial ischemic stroke 10.9
43 taurodontism 10.4
44 corneal staphyloma 10.4 ENAM FAM20A
45 nephrocalcinosis 10.4
46 gingivitis 10.3
47 neuroschistosomiasis 10.3 AMELX MMP20
48 bacterial gastritis 10.3 AMELX ENAM
49 arrhythmogenic right ventricular dysplasia 3 10.3 AMBN AMELX
50 cone-rod dystrophy 10.3

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 KLK4 MMP20 WDR72 AMBN CNNM4 DLX3
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 Drugs
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 484)
id Title Authors Year
1
Effect of etching on bonding of a self-etch adhesive to dentine affected by amelogenesis imperfecta. ( 28608463 )
2017
2
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. ( 28473773 )
2017
3
Association of Amelogenesis Imperfecta and Bartter's Syndrome. ( 28904439 )
2017
4
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. ( 28513613 )
2017
5
Amelogenesis Imperfecta: Case Study. ( 28829932 )
2017
6
A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. ( 28130977 )
2017
7
Amelogenesis Imperfecta: A Non-Invasive Approach to Improve Esthetics in Young Patients. Report of Two Cases. ( 28872982 )
2017
8
Amelogenesis Imperfecta; Genes, Proteins, and Pathways. ( 28694781 )
2017
9
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. ( 28334996 )
2017
10
Functional and esthetic rehabilitation of a child with amelogenesis imperfecta: a case report. ( 28475095 )
2017
11
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta. ( 28659819 )
2017
12
Amelogenesis Imperfecta with Distal Renal Tubular Acidosis: A Novel Syndrome? ( 28553046 )
2017
13
Alternative prosthodontic-based treatment of a patient with hypocalcified type Amelogenesis Imperfecta. ( 28680602 )
2017
14
Correction: Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 28947560 )
2017
15
Novel FAM83H mutations in patients with amelogenesis imperfecta. ( 28729668 )
2017
16
Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta. ( 28771955 )
2017
17
Management of Amelogenesis Imperfecta: A 15-Year Case History of Two Siblings. ( 27589272 )
2016
18
Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth. ( 27281036 )
2016
19
A Rare Case: Epidermolysis Bullosa in a Child Patient with Amelogenesis Imperfecta. ( 27617510 )
2016
20
Noninvasive esthetic treatment for hypomaturation amelogenesis imperfecta: a case report. ( 27814261 )
2016
21
Chairside treatment of amelogenesis imperfecta, including establishment of a new vertical dimension with resin nanoceramic and intraoral scanning. ( 27112411 )
2016
22
Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta. ( 27224574 )
2016
23
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes. ( 27558265 )
2016
24
Amelogenesis Imperfecta and Early Restorative Crown Therapy: An Interview Study with Adolescents and Young Adults on Their Experiences. ( 27359125 )
2016
25
Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool. ( 27259663 )
2016
26
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism. ( 27129268 )
2016
27
Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. ( 27550338 )
2016
28
Isolation and characterization of dental epithelial cellsA derived from amelogenesis imperfecta rat. ( 26582753 )
2016
29
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. ( 27412008 )
2016
30
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. ( 27843125 )
2016
31
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 27530400 )
2016
32
Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression. ( 27146352 )
2016
33
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
34
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. ( 27693231 )
2016
35
Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta. ( 26762616 )
2016
36
Crown lengthening procedure in the management of amelogenesis imperfecta. ( 26538965 )
2015
37
Full-mouth adhesive rehabilitation in a case of amelogenesis imperfecta: a 5-year follow-up case report. ( 25625125 )
2015
38
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation. ( 25442250 )
2015
39
Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report. ( 26097369 )
2015
40
Aesthetic and functional rehabilitation of the primary dentition affected by amelogenesis imperfecta. ( 25705526 )
2015
41
Comprehensive rehabilitation of a case of Amelogenesis imperfecta. ( 26858494 )
2015
42
Amelogenesis Imperfecta, Facial Esthetics and Snap-On Smile. ( 26433999 )
2015
43
Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity. ( 24494736 )
2015
44
A rare association - amelogenesis imperfecta, platispondyly and bicytopenia: a case report. ( 26511208 )
2015
45
Oral health-related quality of life before and after crown therapy in young patients with amelogenesis imperfecta. ( 26651486 )
2015
46
Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta. ( 25827751 )
2015
47
Rehabilitation of a patient with amelogenesis imperfecta using porcelain veneers and CAD/CAM polymer restorations: A clinical report. ( 26345104 )
2015
48
Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta. ( 25769099 )
2015
49
Novel MMP20 and KLK4 Mutations in Amelogenesis Imperfecta. ( 26124219 )
2015
50
Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta. ( 25431241 )
2015

Variations for Amelogenesis Imperfecta

ClinVar genetic disease variations for Amelogenesis Imperfecta:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GPR68 NM_001177676.1(GPR68): c.386_835del450 (p.Phe129_Asn278del) deletion Pathogenic GRCh37 Chromosome 14, 91700560: 91701009
2 GPR68 NM_001177676.1(GPR68): c.667_668delAA (p.Lys223Glyfs) deletion Pathogenic rs1057517671 GRCh37 Chromosome 14, 91700727: 91700728
3 GPR68 NM_001177676.1(GPR68): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057517672 GRCh38 Chromosome 14, 91234830: 91234830

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 9.43 AMBN AMELX ENAM FAM20A KLK4 MMP20
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 post-translational protein modification GO:0043687 9.58 AMBN AMELX ENAM
2 odontogenesis of dentin-containing tooth GO:0042475 9.56 AMBN AMELX DLX3 ENAM
3 cellular protein metabolic process GO:0044267 9.5 AMBN AMELX ENAM
4 protein catabolic process GO:0030163 9.37 KLK4 MMP20
5 amelogenesis GO:0097186 9.33 ENAM KLK4 MMP20
6 enamel mineralization GO:0070166 9.26 AMELX CNNM4 FAM20A WDR72
7 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....