AI
MCID: AML002
MIFTS: 56

Amelogenesis Imperfecta (AI)

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

Aliases & Classifications for Amelogenesis Imperfecta

MalaCards integrated aliases for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 12 73 20 43 58 36 29 54 6 44 15 39
Congenital Enamel Hypoplasia 43
Ai 43

Characteristics:

Orphanet epidemiological data:

58
amelogenesis imperfecta
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:2187
KEGG 36 H00615
MeSH 44 D000567
SNOMED-CT 67 78494001
ICD10 32 K00.5
MESH via Orphanet 45 D000567
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 71 C0002452
Orphanet 58 ORPHA88661
UMLS 70 C0002452

Summaries for Amelogenesis Imperfecta

GARD : 20 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 iiia and amelogenesis imperfecta, hypomaturation type, iia2. An important gene associated with Amelogenesis Imperfecta is MMP20 (Matrix Metallopeptidase 20). The drug Salicylic acid has been mentioned in the context of this disorder. Affiliated tissues include Tooth, and related phenotypes are yellow-brown discoloration of the teeth and impaired mastication

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

MedlinePlus Genetics : 43 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.Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.

KEGG : 36 Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead to enamel hypoplasia and/or hypomineralization. Mutations in several tooth-specific genes are associated with the disease.

Wikipedia : 73 Amelogenesis imperfecta (AI) is a congenital disorder which 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 Ij
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 145)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iiia 34.1 WDR72 SLC24A4 MMP20 KLK4 ITGB6 FAM83H
2 amelogenesis imperfecta, hypomaturation type, iia2 33.9 WDR72 ODAPH MMP20 AMTN ACP4
3 jalili syndrome 33.8 WDR72 MMP20 FAM83H FAM20A ENAM CNNM4
4 amelogenesis imperfecta, type ie 33.8 ARHGAP6 AMELX AMBN
5 amelogenesis imperfecta, type ib 33.7 ENAM AMTN AMELX AMBN
6 amelogenesis imperfecta, type ic 33.7 MMP20 ENAM AMELX
7 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 33.6 AMTN AMELX AMBN
8 amelogenesis imperfecta, type ia 33.6 LAMB3 AMELX
9 amelogenesis imperfecta, type iv 33.6 DLX3 AMTN
10 hypoplastic amelogenesis imperfecta 33.4 RELT LAMB3 ITGB6 FAM20A ENAM DLX3
11 amelogenesis imperfecta hypomaturation type 33.4 WDR72 SLC24A4 ODAPH MMP20 KLK4 GPR68
12 trichodentoosseous syndrome 33.0 WDR72 ODAPH MMP20 FAM83H FAM20A ENAM
13 brachyolmia 32.5 WDR72 SLC10A7
14 immunodeficiency 10 32.5 ODAPH FAM83H AMBN
15 junctional epidermolysis bullosa 31.8 WDR72 ODAPH MMP20 LAMB3 ITGB6 FAM83H
16 dental caries 31.5 KLK4 ENAM AMELX AMBN
17 dentin dysplasia 31.4 MMP20 ENAM AMELX AMBN
18 tooth agenesis 31.4 ODAPH MMP20 FAM20A ENAM DLX3 CNNM4
19 dental pulp calcification 31.0 FAM83H FAM20A ENAM CNNM4 AMELX
20 hypercementosis 31.0 MMP20 FAM83H ENAM AMELX AMBN
21 dental fluorosis 31.0 MMP20 ENAM AMTN AMELX AMBN
22 ameloblastoma 30.8 MMP20 AMELX AMBN
23 amelogenesis imperfecta, type ig 11.9
24 amelogenesis imperfecta, type if 11.9
25 dental anomalies and short stature 11.8
26 amelogenesis imperfecta, type iiic 11.8
27 amelogenesis imperfecta, hypomaturation type, iia3 11.8
28 amelogenesis imperfecta, hypomaturation type, iia1 11.8
29 amelogenesis imperfecta, hypomaturation type, iia5 11.8
30 amelogenesis imperfecta, hypomaturation type, iia4 11.8
31 amelogenesis imperfecta, type ih 11.8
32 kohlschutter-tonz syndrome 11.8
33 amelogenesis imperfecta, type iiib 11.8
34 amelogenesis imperfecta, type ij 11.7
35 amelogenesis imperfecta hypoplastic type, ig 11.7
36 amelogenesis imperfecta, hypomaturation type, iia6 11.7
37 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta 11.7
38 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 11.6
39 amelogenesis imperfecta type 2a1 11.6
40 amelogenesis imperfecta local hypoplastic 11.4
41 heimler syndrome 1 11.3
42 amelogenesis imperfecta pigmented hypomaturation type 11.2
43 hypogonadism-cataract syndrome 11.1
44 trichodysplasia-amelogenesis imperfecta syndrome 11.1
45 hypomagnesemia 5, renal, with or without ocular involvement 11.1
46 hypomagnesemia 3, renal 11.1
47 heimler syndrome 2 11.1
48 kohlschutter-tonz syndrome-like 11.1
49 teeth hard tissue disease 10.8 WDR72 ODAPH MMP20 KLK4 FAM83H FAM20A
50 hair whorl 10.8

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



Diseases related to Amelogenesis Imperfecta

Symptoms & Phenotypes for Amelogenesis Imperfecta

Human phenotypes related to Amelogenesis Imperfecta:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 yellow-brown discoloration of the teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006286
2 impaired mastication 58 31 frequent (33%) Frequent (79-30%) HP:0005216
3 hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006297
4 hypocalcification of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0011084
5 fragile teeth 58 31 frequent (33%) Frequent (79-30%) HP:0025124
6 hypomature dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0011085
7 anterior open-bite malocclusion 31 frequent (33%) HP:0009102
8 widely spaced teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000687
9 taurodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000679
10 multiple unerupted teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006283
11 abnormality of dentin 58 31 occasional (7.5%) Occasional (29-5%) HP:0010299
12 abnormal jaw morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030791
13 abnormality of dental color 58 Very frequent (99-80%)
14 hypoplasia of teeth 58 Occasional (29-5%)
15 hypomineralization of enamel 58 Frequent (79-30%)
16 anterior open bite 58 Frequent (79-30%)
17 abnormality of permanent molar morphology 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.36 RELT
2 Decreased viability GR00301-A 9.36 ACP4
3 Decreased viability GR00381-A-1 9.36 SLC24A4
4 Decreased viability GR00386-A-1 9.36 ARHGAP6 DLX3 LAMB3
5 Decreased viability GR00402-S-2 9.36 AMTN ENAM FAM83H KLK4 LAMB3

MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10 AMBN AMTN CNNM4 DLX3 ENAM FAM20A
2 growth/size/body region MP:0005378 9.83 AMBN AMTN ARHGAP6 CNNM4 DLX3 ENAM
3 skeleton MP:0005390 9.44 AMBN AMTN CNNM4 ENAM FAM20A FAM83H

Drugs & Therapeutics for Amelogenesis Imperfecta

Drugs for Amelogenesis Imperfecta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 One Year Clinical Evaluation of E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent Before Bonding to Teeth With Amelogenesis Imperfecta Unknown status NCT02994862
2 Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants Recruiting NCT03810859
3 Colorimetric Comparison of Email Defects Using Spectrophotometric and Computer Techniques and Biological, Structural and Physico-chemical Analyses of Teeth or Pathological Enamel Not yet recruiting NCT04704089
4 Clinical and Molecular Study of 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 29

Anatomical Context for Amelogenesis Imperfecta

MalaCards organs/tissues related to Amelogenesis Imperfecta:

40
Bone, Kidney, Skin, Heart, Tongue, Pituitary
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 937)
# Title Authors PMID Year
1
Premature stop codon in MMP20 causing amelogenesis imperfecta. 6 54 61
18096894 2008
2
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. 61 54 6
16246936 2005
3
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. 6 61 54
15744043 2005
4
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. 6 54 61
14684688 2003
5
A nomenclature for X-linked amelogenesis imperfecta. 54 61 6
11922868 2002
6
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. 54 61 6
11487571 2001
7
Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. 61 6 54
7782077 1995
8
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). 61 6 54
7599636 1995
9
Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). 6 61 54
1483698 1992
10
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). 6 61 54
1916828 1991
11
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. 61 6
28334996 2017
12
A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities. 6 61
28611678 2017
13
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. 6 61
28473773 2017
14
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta. 61 6
28659819 2017
15
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. 6 61
27693231 2016
16
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. 61 6
26502894 2016
17
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. 6 61
24858907 2014
18
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. 61 6
24319098 2014
19
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. 61 6
24305999 2014
20
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. 6 61
23632796 2014
21
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. 6 61
23958762 2013
22
Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta. 61 6
23625376 2013
23
Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. 61 6
23355523 2013
24
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. 6 61
23375655 2013
25
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. 61 6
22901946 2012
26
Molecular characterization of amelogenesis imperfecta in Chinese patients. 6 61
22414746 2012
27
Amelogenesis imperfecta: genotype-phenotype studies in 71 families. 61 6
21597265 2011
28
Novel WDR72 mutation and cytoplasmic localization. 6 61
20938048 2010
29
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. 6 61
19853237 2009
30
Phenotypic variation in FAM83H-associated amelogenesis imperfecta. 6 61
19407157 2009
31
Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta. 6 61
19220331 2009
32
Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. 61 6
18484629 2008
33
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. 61 6
18252228 2008
34
DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. 61 6
18203197 2008
35
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. 6 61
17125728 2007
36
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. 6 61
16674655 2006
37
DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. 6 61
15666299 2005
38
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. 6 61
15235027 2004
39
Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. 6 61
15111628 2004
40
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). 6 61
11978766 2002
41
A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta. 6 61
11839357 2002
42
Detection of a novel mutation in X-linked amelogenesis imperfecta. 6 61
11201048 2000
43
Mutational analysis of X-linked amelogenesis imperfecta in multiple families. 6 61
10669095 2000
44
An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. 61 6
9188994 1997
45
Molecular basis and consequences of a deletion in the amelogenin gene, analyzed by capture PCR. 61 6
8406474 1993
46
Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. 6 61
1967204 1990
47
Amelogenesis imperfecta: a genetic study. 61 6
3169793 1988
48
Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta. 6 61
4623931 1972
49
Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the Lyon hypothesis. 61 6
5225441 1967
50
Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations. 6
30028003 2018

Variations for Amelogenesis Imperfecta

ClinVar genetic disease variations for Amelogenesis Imperfecta:

6 (show top 50) (show all 457)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR72 NM_182758.4(WDR72):c.2348C>G (p.Ser783Ter) SNV Pathogenic 231 rs267607178 GRCh37: 15:53908055-53908055
GRCh38: 15:53615858-53615858
2 WDR72 NM_182758.4(WDR72):c.2857del (p.Ser953fs) Deletion Pathogenic 233 rs606231351 GRCh37: 15:53905878-53905878
GRCh38: 15:53613681-53613681
3 FAM83H NM_198488.4(FAM83H):c.973C>T (p.Arg325Ter) SNV Pathogenic 770 rs137854435 GRCh37: 8:144810658-144810658
GRCh38: 8:143728488-143728488
4 FAM83H NM_198488.4(FAM83H):c.1192C>T (p.Gln398Ter) SNV Pathogenic 771 rs137854436 GRCh37: 8:144810439-144810439
GRCh38: 8:143728269-143728269
5 FAM83H NM_198488.4(FAM83H):c.1243G>T (p.Glu415Ter) SNV Pathogenic 772 rs137854437 GRCh37: 8:144810388-144810388
GRCh38: 8:143728218-143728218
6 FAM83H NM_198488.4(FAM83H):c.891T>A (p.Tyr297Ter) SNV Pathogenic 773 rs137854438 GRCh37: 8:144810740-144810740
GRCh38: 8:143728570-143728570
7 FAM83H NM_198488.4(FAM83H):c.1380G>A (p.Trp460Ter) SNV Pathogenic 774 rs137854439 GRCh37: 8:144810251-144810251
GRCh38: 8:143728081-143728081
8 FAM83H NM_198488.4(FAM83H):c.2029C>T (p.Gln677Ter) SNV Pathogenic 775 rs137854440 GRCh37: 8:144809602-144809602
GRCh38: 8:143727432-143727432
9 FAM83H NM_198488.4(FAM83H):c.1408C>T (p.Gln470Ter) SNV Pathogenic 776 rs137854441 GRCh37: 8:144810223-144810223
GRCh38: 8:143728053-143728053
10 FAM83H NM_198488.4(FAM83H):c.860C>A (p.Ser287Ter) SNV Pathogenic 777 rs137854442 GRCh37: 8:144810771-144810771
GRCh38: 8:143728601-143728601
11 FAM83H NM_198488.4(FAM83H):c.2080G>T (p.Glu694Ter) SNV Pathogenic 778 rs137854443 GRCh37: 8:144809551-144809551
GRCh38: 8:143727381-143727381
12 FAM83H NM_198488.4(FAM83H):c.1872_1873del (p.Leu625fs) Deletion Pathogenic 779 rs796065022 GRCh37: 8:144809758-144809759
GRCh38: 8:143727588-143727589
13 FAM83H NM_198488.4(FAM83H):c.1379G>A (p.Trp460Ter) SNV Pathogenic 781 rs137854444 GRCh37: 8:144810252-144810252
GRCh38: 8:143728082-143728082
14 ARHGAP6 , AMELX NM_001142.2(AMELX):c.113del (p.Pro38fs) Deletion Pathogenic 11137 rs387906487 GRCh37: X:11316363-11316363
GRCh38: X:11298243-11298243
15 ARHGAP6 , AMELX NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr) Deletion Pathogenic 11138 rs387906488 GRCh37: X:11312922-11312930
GRCh38: X:11294802-11294810
16 ARHGAP6 , AMELX NM_001142.2(AMELX):c.431del (p.Pro144fs) Deletion Pathogenic 11139 rs387906489 GRCh37: X:11316953-11316953
GRCh38: X:11298833-11298833
17 ARHGAP6 , AMELX NM_001142.2(AMELX):c.110C>T (p.Thr37Ile) SNV Pathogenic 11140 rs104894733 GRCh37: X:11316363-11316363
GRCh38: X:11298243-11298243
18 ARHGAP6 , AMELX NM_001142.2(AMELX):c.529G>T (p.Glu177Ter) SNV Pathogenic 11141 rs104894734 GRCh37: X:11317052-11317052
GRCh38: X:11298932-11298932
19 ARHGAP6 , AMELX NM_001142.2(AMELX):c.166C>A (p.Pro56Thr) SNV Pathogenic 11142 rs104894736 GRCh37: X:11316689-11316689
GRCh38: X:11298569-11298569
20 ARHGAP6 , AMELX NM_001142.2(AMELX):c.499del (p.Leu167fs) Deletion Pathogenic 11143 rs387906490 GRCh37: X:11317019-11317019
GRCh38: X:11298899-11298899
21 ARHGAP6 , AMELX NM_001142.2(AMELX):c.378del (p.Tyr127fs) Deletion Pathogenic 11144 rs387906491 GRCh37: X:11316899-11316899
GRCh38: X:11298779-11298779
22 ARHGAP6 , AMELX NM_001142.2(AMELX):c.2T>C (p.Met1Thr) SNV Pathogenic 11145 rs104894737 GRCh37: X:11312910-11312910
GRCh38: X:11294790-11294790
23 ARHGAP6 , AMELX NM_001142.2(AMELX):c.11G>C (p.Trp4Ser) SNV Pathogenic 11146 rs104894738 GRCh37: X:11312919-11312919
GRCh38: X:11294799-11294799
24 FAM83H NM_198488.4(FAM83H):c.1366C>T (p.Gln456Ter) SNV Pathogenic 30930 rs387907056 GRCh37: 8:144810265-144810265
GRCh38: 8:143728095-143728095
25 ODAPH NM_001206981.2(ODAPH):c.273C>T (p.His91=) SNV Pathogenic 37216 rs866941536 GRCh37: 4:76489485-76489485
GRCh38: 4:75564275-75564275
26 ODAPH NM_001206981.2(ODAPH):c.173C>A (p.Ala58Asp) SNV Pathogenic 37217 rs1560562738 GRCh37: 4:76489385-76489385
GRCh38: 4:75564175-75564175
27 ODAPH NM_001206981.2(ODAPH):c.112-2A>T SNV Pathogenic 37218 rs1560562630 GRCh37: 4:76489322-76489322
GRCh38: 4:75564112-75564112
28 MMP20 NM_004771.4(MMP20):c.678T>A (p.His226Gln) SNV Pathogenic 139624 rs587777515 GRCh37: 11:102479801-102479801
GRCh38: 11:102609070-102609070
29 MMP20 NM_004771.4(MMP20):c.102G>A (p.Trp34Ter) SNV Pathogenic 139625 rs587777516 GRCh37: 11:102495949-102495949
GRCh38: 11:102625218-102625218
30 SLC24A4 NM_153648.3(SLC24A4):c.823C>T (p.Arg275Ter) SNV Pathogenic 139657 rs587777535 GRCh37: 14:92920378-92920378
GRCh38: 14:92454034-92454034
31 SLC24A4 NM_153648.3(SLC24A4):c.1303A>T (p.Ser435Cys) SNV Pathogenic 139658 rs587777536 GRCh37: 14:92953082-92953082
GRCh38: 14:92486738-92486738
32 SLC24A4 NM_153648.3(SLC24A4):c.245C>T (p.Ala82Val) SNV Pathogenic 139659 rs587777537 GRCh37: 14:92908476-92908476
GRCh38: 14:92442132-92442132
33 WDR72 NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) Deletion Pathogenic 161415 rs606231462 GRCh37: 15:53994432-53994433
GRCh38: 15:53702235-53702236
34 AMBN NM_016519.6(AMBN):c.294+140_531+479del Deletion Pathogenic 183689 GRCh37: 4:71465502-71467849
GRCh38: 4:70599785-70602132
35 MMP20 NM_004771.4(MMP20):c.611A>G (p.His204Arg) SNV Pathogenic 189295 rs786204826 GRCh37: 11:102480674-102480674
GRCh38: 11:102609943-102609943
36 AMBN NM_016519.6(AMBN):c.532-1G>C SNV Pathogenic 372171 rs146238585 GRCh37: 4:71468340-71468340
GRCh38: 4:70602623-70602623
37 FAM83H NM_198488.4(FAM83H):c.921_922TC[1] (p.Leu308fs) Microsatellite Pathogenic 780 rs796065023 GRCh37: 8:144810707-144810708
GRCh38: 8:143728537-143728538
38 ODAPH NM_001206981.2(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs) Indel Pathogenic 37220 rs1560558455 GRCh37: 4:76481343-76481348
GRCh38: 4:75556133-75556138
39 KLK4 NM_004917.4(KLK4):c.458G>A (p.Trp153Ter) SNV Pathogenic 6079 rs104894704 GRCh37: 19:51411852-51411852
GRCh38: 19:50908596-50908596
40 ITGB6 NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr) SNV Pathogenic 180683 rs140015315 GRCh37: 2:161052046-161052046
GRCh38: 2:160195535-160195535
41 ITGB6 NM_000888.5(ITGB6):c.825T>A (p.His275Gln) SNV Pathogenic 180684 rs730882118 GRCh37: 2:161029176-161029176
GRCh38: 2:160172665-160172665
42 ITGB6 NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter) SNV Pathogenic 180685 rs730880297 GRCh37: 2:160982927-160982927
GRCh38: 2:160126416-160126416
43 ITGB6 NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) SNV Pathogenic 180686 rs730880298 GRCh37: 2:161051887-161051887
GRCh38: 2:160195376-160195376
44 KLK4 NM_004917.4(KLK4):c.245del (p.Gly82fs) Deletion Pathogenic 189294 rs786204825 GRCh37: 19:51412065-51412065
GRCh38: 19:50908809-50908809
45 SLC24A4 NM_153648.3(SLC24A4):c.1000C>T (p.Gln334Ter) SNV Pathogenic 689492 rs1595312054 GRCh37: 14:92922889-92922889
GRCh38: 14:92456545-92456545
46 MMP20 NM_004771.4(MMP20):c.625G>C (p.Glu209Gln) SNV Pathogenic 917990 rs199788797 GRCh37: 11:102480660-102480660
GRCh38: 11:102609929-102609929
47 MMP20 NM_004771.4(MMP20):c.710C>A (p.Ser237Tyr) SNV Pathogenic 917991 GRCh37: 11:102479769-102479769
GRCh38: 11:102609038-102609038
48 MMP20 NM_004771.4(MMP20):c.1122A>C (p.Gln374His) SNV Pathogenic 917992 GRCh37: 11:102464295-102464295
GRCh38: 11:102593564-102593564
49 MMP20 NM_004771.4(MMP20):c.809_811+12delinsCCAG Indel Pathogenic 917993 GRCh37: 11:102479656-102479670
GRCh38: 11:102608925-102608939
50 ARHGAP6 , AMELX NM_001287242.1(ARHGAP6):c.49-45951_49-41228del Deletion Pathogenic 11136 GRCh37: X:11314055-11318781
GRCh38: X:11295935-11300661

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 endoplasmic reticulum lumen GO:0005788 9.46 ENAM AMTN AMELX AMBN
2 extracellular region GO:0005576 9.28 ODAPH MMP20 LAMB3 KLK4 FAM20A ENAM
3 extracellular matrix GO:0031012 9.26 MMP20 ENAM AMTN AMELX

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.88 LAMB3 ITGB6 AMTN AMELX AMBN
2 post-translational protein modification GO:0043687 9.76 ENAM AMTN AMELX AMBN
3 cellular protein metabolic process GO:0044267 9.73 ENAM AMTN AMELX AMBN
4 odontogenesis of dentin-containing tooth GO:0042475 9.62 DLX3 AMTN AMELX AMBN
5 extracellular matrix disassembly GO:0022617 9.58 WDR72 MMP20 KLK4
6 enamel mineralization GO:0070166 9.55 WDR72 ITGB6 FAM20A CNNM4 AMELX
7 positive regulation of enamel mineralization GO:0070175 9.43 ODAPH ENAM AMTN
8 positive regulation of biomineral tissue development GO:0070169 9.37 ODAPH AMTN
9 amelogenesis GO:0097186 9.35 SLC24A4 RELT MMP20 KLK4 ENAM
10 biomineral tissue development GO:0031214 9.28 WDR72 KLK4 FAM83H FAM20A ENAM CNNM4

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 ENAM AMELX AMBN

Sources for Amelogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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