AI
MCID: AML002
MIFTS: 55

Amelogenesis Imperfecta (AI)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Amelogenesis Imperfecta

MalaCards integrated aliases for Amelogenesis Imperfecta:

Name: Amelogenesis Imperfecta 11 19 42 58 75 28 53 5 43 14 38 33
Al - [amelogenesis Imperfecta] 33
Congenital Enamel Hypoplasia 42
Ai 42

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked dominant 58

Prevelance:

1-9/100000 (United States) 6-9/10000 (India) >1/1000 (Sweden) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 11 DOID:2187
MeSH 43 D000567
SNOMED-CT 68 78494001
ICD10 31 K00.5
MESH via Orphanet 44 D000567
ICD10 via Orphanet 32 K00.5
UMLS via Orphanet 72 C0002452
Orphanet 58 ORPHA88661
ICD11 33 1923123066
UMLS 71 C0002452

Summaries for Amelogenesis Imperfecta

GARD: 19 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 very 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. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.

MalaCards based summary: Amelogenesis Imperfecta, also known as al - [amelogenesis imperfecta], is related to amelogenesis imperfecta, type iiia and jalili syndrome. An important gene associated with Amelogenesis Imperfecta is AMELX (Amelogenin X-Linked), and among its related pathways/superpathways is Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). 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

MedlinePlus Genetics: 42 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.

Orphanet: 58 A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.

Disease Ontology: 11 A dental enamel hypoplasia characterized by abnormal enamel formation.

Wikipedia: 75 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 Ik Amelogenesis Imperfecta Type 2a1

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

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iiia 33.9 WDR72 SLC24A4 ODAPH MMP20 KLK4 FAM83H
2 jalili syndrome 33.7 WDR72 ODAPH MMP20 FAM83H FAM20A ENAM
3 amelogenesis imperfecta, type iv 33.7 TUFT1 MMP20 FAM83H ENAM DLX3 AMTN
4 amelogenesis imperfecta, hypomaturation type, iia2 33.7 WDR72 ODAPH MMP20 ENAM AMTN
5 amelogenesis imperfecta, type ib 33.6 ENAM AMTN AMELX AMBN
6 amelogenesis imperfecta, type ic 33.6 MMP20 FAM20A ENAM AMELX
7 dental anomalies and short stature 33.6 MMP20 LTBP3 ENAM
8 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 33.5 TUFT1 AMTN AMELX AMBN
9 amelogenesis imperfecta, hypomaturation type, iia5 33.5 SLC24A4 ODAPH AMTN
10 amelogenesis imperfecta, type iiic 33.5 FAM83H AMTN
11 amelogenesis imperfecta, hypomaturation type, iia3 33.5 WDR72 ODAPH AMTN
12 kohlschutter-tonz syndrome 33.4 WDR72 FAM20A DLX3 CNNM4
13 amelogenesis imperfecta, type ie 33.2 ARHGAP6 AMELX
14 amelogenesis imperfecta hypomaturation type 33.2 WDR72 SLC24A4 ODAPH MMP20 KLK4 GPR68
15 hypoplastic amelogenesis imperfecta 33.1 LTBP3 FAM20A ENAM AMBN ACP4
16 heimler syndrome 1 32.7 ODAPH FAM20A DLX3 CNNM4
17 immunodeficiency 10 32.6 ODAPH ENAM AMBN
18 trichodentoosseous syndrome 31.7 WDR72 ODAPH MMP20 FAM83H FAM20A ENAM
19 tooth agenesis 31.6 WDR72 ODAPH MMP20 LTBP3 FAM20A ENAM
20 dental caries 31.6 TUFT1 KLK4 ENAM DLX3 AMELX AMBN
21 cone-rod dystrophy 2 31.6 WDR72 ODAPH MMP20 FAM83H FAM20A ENAM
22 junctional epidermolysis bullosa 31.5 WDR72 ODAPH MMP20 FAM83H FAM20A ENAM
23 gingival fibromatosis 31.4 ODAPH MMP20 FAM20A ENAM AMBN
24 dental pulp calcification 31.4 FAM20A ENAM DLX3 CNNM4 AMELX
25 dentin dysplasia 31.2 MMP20 ENAM AMELX AMBN
26 brachyolmia 31.0 WDR72 LTBP3
27 dental fluorosis 30.9 TUFT1 MMP20 KLK4 ENAM AMTN AMELX
28 hypercementosis 30.9 MMP20 FAM83H FAM20A ENAM AMELX AMBN
29 ameloblastoma 30.7 MMP20 AMELX AMBN
30 gingival recession 30.5 AMELX AMBN
31 amelogenesis imperfecta, type ig 11.9
32 amelogenesis imperfecta, type ia 11.9
33 amelogenesis imperfecta, type if 11.9
34 amelogenesis imperfecta, type ij 11.8
35 amelogenesis imperfecta, type ih 11.8
36 amelogenesis imperfecta, hypomaturation type, iia1 11.8
37 amelogenesis imperfecta, type iiib 11.8
38 amelogenesis imperfecta, hypomaturation type, iia4 11.8
39 amelogenesis imperfecta, hypomaturation type, iia6 11.8
40 developmental and epileptic encephalopathy 25 with amelogenesis imperfecta 11.7
41 amelogenesis imperfecta hypoplastic type, ig 11.7
42 amelogenesis imperfecta type 2a1 11.7
43 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 11.6
44 amelogenesis imperfecta, type ik 11.5
45 trichodysplasia-amelogenesis imperfecta syndrome 11.4
46 amelogenesis imperfecta local hypoplastic 11.4
47 kohlschutter-tonz syndrome-like 11.3
48 hypomagnesemia 3, renal 11.2
49 hypomagnesemia 5, renal, with or without ocular involvement 11.1
50 hypogonadism-cataract syndrome 11.1

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 30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 yellow-brown discoloration of the teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006286
2 impaired mastication 58 30 Frequent (33%) Frequent (79-30%)
HP:0005216
3 hypocalcification of dental enamel 58 30 Frequent (33%) Frequent (79-30%)
HP:0011084
4 fragile teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0025124
5 hypomature dental enamel 58 30 Frequent (33%) Frequent (79-30%)
HP:0011085
6 anterior open-bite malocclusion 30 Frequent (33%) HP:0009102
7 enamel hypoplasia 30 Frequent (33%) HP:0006297
8 widely spaced teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000687
9 taurodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000679
10 multiple unerupted teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006283
11 abnormal jaw morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030791
12 abnormal dentin morphology 30 Occasional (7.5%) HP:0010299
13 abnormality of dental color 58 Very frequent (99-80%)
14 hypoplasia of dental enamel 58 Frequent (79-30%)
15 hypoplasia of teeth 58 Occasional (29-5%)
16 abnormality of dentin 58 Occasional (29-5%)
17 hypomineralization of enamel 58 Frequent (79-30%)
18 anterior open bite 58 Frequent (79-30%)
19 abnormality of permanent molar morphology 58 Occasional (29-5%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ACP4 AMBN AMELX AMELY AMTN ARHGAP6
2 no effect GR00402-S-2 10.15 ACP4 AMBN AMELX AMELY ARHGAP6 CNNM4

MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 ACP4 AMBN AMELX AMELY AMTN ARHGAP6
2 craniofacial MP:0005382 10.06 ACP4 AMBN AMELX AMELY AMTN CNNM4
3 renal/urinary system MP:0005367 9.87 AMBN AMTN CNNM4 FAM20A FAM83H GPR68
4 skeleton MP:0005390 9.53 ACP4 AMBN AMELX AMELY AMTN CNNM4
5 respiratory system MP:0005388 9.5 AMELX AMELY FAM20A GPR68 KLK4 LTBP3

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 Evaluation of Dental Age of Children With Amelogenesis Imperfecta Using Willems Method, Cameriere European Formula, and London Atlas Recruiting NCT05343247
3 Colorimetric Comparison of Email Defects Using Spectrophotometric and Computer Techniques and Biological, Structural and Physico-chemical Analyses of Teeth or Pathological Enamel Recruiting NCT04704089
4 Psycho-social Impact of Amelogenesis and Dentinogenesis Imperfecta in Young People Recruiting NCT04927962
5 The Clinical Performance of Direct Posterior Composite Restorations in Patients With Amelogenesis Imperfecta Active, not recruiting NCT04897724
6 Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants Active, not recruiting NCT03810859
7 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 28

Anatomical Context for Amelogenesis Imperfecta

Organs/tissues related to Amelogenesis Imperfecta:

MalaCards : Bone, Kidney, Skin
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 1021)
# Title Authors PMID Year
1
First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta. 62 5
35998423 2022
2
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. 62 5
27693231 2016
3
A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. 53 62
20067920 2010
4
The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation. 53 62
19923784 2010
5
MMP20 hemopexin domain mutation in amelogenesis imperfecta. 53 62
19966041 2010
6
Evolutionary analysis of mammalian enamelin, the largest enamel protein, supports a crucial role for the 32-kDa peptide and reveals selective adaptation in rodents and primates. 53 62
20012271 2009
7
Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4. 53 62
18714142 2009
8
The leucine-rich amelogenin peptide alters the amelogenin null enamel phenotype. 53 62
18701811 2009
9
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. 53 62
18499550 2008
10
Functions of KLK4 and MMP-20 in dental enamel formation. 53 62
18627287 2008
11
Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta. 53 62
18434575 2008
12
Partial rescue of the amelogenin null dental enamel phenotype. 53 62
18390542 2008
13
DLX3 mutation in a new family and its phenotypic variations. 53 62
18362318 2008
14
Enamel defects and ameloblast-specific expression in Enam knock-out/lacz knock-in mice. 53 62
18252720 2008
15
Premature stop codon in MMP20 causing amelogenesis imperfecta. 53 62
18096894 2008
16
Developmental biology and genetics of dental malformations. 53 62
17552940 2007
17
Transgenic mice that express normal and mutated amelogenins. 53 62
17384027 2007
18
Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta. 53 62
16820943 2006
19
Effect of deproteinization on composite bond strength in hypocalcified amelogenesis imperfecta. 53 62
16700741 2006
20
A developmental comparison of matrix metalloproteinase-20 and amelogenin null mouse enamel. 53 62
16674657 2006
21
Genes and related proteins involved in amelogenesis imperfecta. 53 62
16304440 2005
22
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. 53 62
16246936 2005
23
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. 53 62
15744043 2005
24
Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI). 53 62
15649948 2005
25
ENAM mutations in autosomal-dominant amelogenesis imperfecta. 53 62
15723871 2005
26
Amelogenesis imperfecta in a new animal model--a mutation in chromosome 5 (human 4q21). 53 62
15271968 2004
27
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. 53 62
14684688 2003
28
A transgenic animal model resembling amelogenesis imperfecta related to ameloblastin overexpression. 53 62
12657627 2003
29
X-linked amelogenesis imperfecta may result from decreased formation of tyrosine rich amelogenin peptide (TRAP). 53 62
12648554 2003
30
Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. 53 62
12952177 2003
31
Dental structural diseases mapping to human chromosome 4q21. 53 62
12952210 2003
32
Enamelin and autosomal-dominant amelogenesis imperfecta. 53 62
14656895 2003
33
Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations. 53 62
11922869 2002
34
A nomenclature for X-linked amelogenesis imperfecta. 53 62
11922868 2002
35
Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta. 53 62
12489199 2002
36
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. 53 62
11487571 2001
37
Cloning and characterization of the mouse and human enamelin genes. 53 62
11379892 2001
38
Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. 53 62
11330937 2001
39
Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. 53 62
11037750 2000
40
Cloning, characterization and immunolocalization of human ameloblastin. 53 62
10946765 2000
41
Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. 53 62
11005731 2000
42
Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. 53 62
10831092 2000
43
PCR detection of the human amelogenin gene and its application to the diagnosis of amelogenesis imperfecta. 53 62
10218009 1998
44
Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21. 53 62
9126491 1997
45
DNA diagnosis of X-linked amelogenesis imperfecta (AIH1). 53 62
9083938 1997
46
Molecular biology of hereditary enamel defects. 53 62
9189626 1997
47
Tuftelin: enamel mineralization and amelogenesis imperfecta. 53 62
9189622 1997
48
Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. 53 62
7782077 1995
49
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). 53 62
7599636 1995
50
Enamel matrix proteins and ameloblast biology. 53 62
7554940 1995

Variations for Amelogenesis Imperfecta

ClinVar genetic disease variations for Amelogenesis Imperfecta:

5 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPR68 NM_001177676.2(GPR68):c.667_668del (p.Lys223fs) DEL Pathogenic
268085 rs1057517671 GRCh37: 14:91700727-91700728
GRCh38: 14:91234383-91234384
2 GPR68 NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro) SNV Pathogenic
268086 rs1057517672 GRCh37: 14:91701174-91701174
GRCh38: 14:91234830-91234830
3 GPR68 NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del) DEL Pathogenic
268084 rs1555409827 GRCh37: 14:91700560-91701009
GRCh38: 14:91234216-91234665
4 ARHGAP6, AMELX NM_001142.2(AMELX):c.143del (p.Pro48fs) DEL Pathogenic
617639 rs1603038146 GRCh37: X:11316395-11316395
GRCh38: X:11298275-11298275
5 ENAM NM_031889.3(ENAM):c.-61+1G>A SNV Pathogenic
1012267 GRCh37: 4:71494682-71494682
GRCh38: 4:70628965-70628965
6 SLC24A4 NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter) SNV Pathogenic
1326286 GRCh37: 14:92909774-92909774
GRCh38: 14:92443430-92443430
7 GPR68 NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs) INDEL Pathogenic
1326287 GRCh37: 14:91701312-91701317
GRCh38: 14:91234968-91234973
8 KLK4 NM_004917.5(KLK4):c.637T>C (p.Cys213Arg) SNV Pathogenic
1327588 GRCh37: 19:51410318-51410318
GRCh38: 19:50907062-50907062
9 KLK4 NM_004917.5(KLK4):c.170C>A (p.Ser57Ter) SNV Pathogenic
1327589 GRCh37: 19:51412562-51412562
GRCh38: 19:50909306-50909306
10 SP6 NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met) INDEL Pathogenic
997829 GRCh37: 17:45924978-45924979
GRCh38: 17:47847612-47847613
11 LTBP3 NM_001130144.3(LTBP3):c.3716G>A (p.Cys1239Tyr) SNV Likely Pathogenic
1694478 GRCh37: 11:65306843-65306843
GRCh38: 11:65539372-65539372
12 WDR72 NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) SNV Likely Pathogenic
517616 rs770804941 GRCh37: 15:54025259-54025259
GRCh38: 15:53733062-53733062
13 DLX3 NM_005220.3(DLX3):c.574dup (p.Glu192fs) DUP Likely Pathogenic
373912 rs1057518764 GRCh37: 17:48069170-48069171
GRCh38: 17:49991806-49991807
14 ENAM NM_031889.3(ENAM):c.-112A>G SNV Uncertain Significance
349490 rs886059581 GRCh37: 4:71494630-71494630
GRCh38: 4:70628913-70628913
15 ENAM NM_031889.3(ENAM):c.3277C>T (p.Pro1093Ser) SNV Uncertain Significance
349508 rs35951442 GRCh37: 4:71510420-71510420
GRCh38: 4:70644703-70644703
16 ENAM NM_031889.3(ENAM):c.*605T>C SNV Uncertain Significance
349519 rs886059591 GRCh37: 4:71511177-71511177
GRCh38: 4:70645460-70645460
17 ENAM NM_031889.3(ENAM):c.1945G>A (p.Val649Ile) SNV Uncertain Significance
349500 rs199541879 GRCh37: 4:71509088-71509088
GRCh38: 4:70643371-70643371
18 ENAM NM_031889.3(ENAM):c.*422G>T SNV Uncertain Significance
349516 rs886059589 GRCh37: 4:71510994-71510994
GRCh38: 4:70645277-70645277
19 ENAM NM_031889.3(ENAM):c.1103G>A (p.Arg368His) SNV Uncertain Significance
349498 rs780933451 GRCh37: 4:71508246-71508246
GRCh38: 4:70642529-70642529
20 ENAM NM_031889.3(ENAM):c.3007G>A (p.Glu1003Lys) SNV Uncertain Significance
349507 rs775162070 GRCh37: 4:71510150-71510150
GRCh38: 4:70644433-70644433
21 ENAM NM_031889.3(ENAM):c.*985C>T SNV Uncertain Significance
349521 rs182854472 GRCh37: 4:71511557-71511557
GRCh38: 4:70645840-70645840
22 ENAM NM_031889.3(ENAM):c.*1241C>A SNV Uncertain Significance
349524 rs556213549 GRCh37: 4:71511813-71511813
GRCh38: 4:70646096-70646096
23 ENAM NM_031889.3(ENAM):c.3400G>T (p.Val1134Leu) SNV Uncertain Significance
349510 rs200396980 GRCh37: 4:71510543-71510543
GRCh38: 4:70644826-70644826
24 ENAM NM_031889.3(ENAM):c.2686T>A (p.Tyr896Asn) SNV Uncertain Significance
349504 rs754676479 GRCh37: 4:71509829-71509829
GRCh38: 4:70644112-70644112
25 ENAM NM_031889.3(ENAM):c.-25G>A SNV Uncertain Significance
349492 rs778175689 GRCh37: 4:71495193-71495193
GRCh38: 4:70629476-70629476
26 ENAM NM_031889.3(ENAM):c.888C>T (p.Asn296=) SNV Uncertain Significance
349495 rs778224567 GRCh37: 4:71508031-71508031
GRCh38: 4:70642314-70642314
27 ENAM NM_031889.3(ENAM):c.*1211T>G SNV Uncertain Significance
349523 rs886059593 GRCh37: 4:71511783-71511783
GRCh38: 4:70646066-70646066
28 ENAM NM_031889.3(ENAM):c.-218A>G SNV Uncertain Significance
349488 rs886059580 GRCh37: 4:71494524-71494524
GRCh38: 4:70628807-70628807
29 ENAM NM_031889.3(ENAM):c.-111A>T SNV Uncertain Significance
349491 rs886059582 GRCh37: 4:71494631-71494631
GRCh38: 4:70628914-70628914
30 ENAM NM_031889.3(ENAM):c.*156G>A SNV Uncertain Significance
349512 rs886059587 GRCh37: 4:71510728-71510728
GRCh38: 4:70645011-70645011
31 ENAM NM_031889.3(ENAM):c.2998C>G (p.Gln1000Glu) SNV Uncertain Significance
349506 rs886059585 GRCh37: 4:71510141-71510141
GRCh38: 4:70644424-70644424
32 ENAM NM_031889.3(ENAM):c.3310C>A (p.Gln1104Lys) SNV Uncertain Significance
349509 rs114751362 GRCh37: 4:71510453-71510453
GRCh38: 4:70644736-70644736
33 ENAM NM_031889.3(ENAM):c.871C>T (p.Pro291Ser) SNV Uncertain Significance
349494 rs752076298 GRCh37: 4:71508014-71508014
GRCh38: 4:70642297-70642297
34 ENAM NM_031889.3(ENAM):c.*69T>A SNV Uncertain Significance
349511 rs886059586 GRCh37: 4:71510641-71510641
GRCh38: 4:70644924-70644924
35 ENAM NM_031889.3(ENAM):c.899A>G (p.Gln300Arg) SNV Uncertain Significance
349496 rs886059583 GRCh37: 4:71508042-71508042
GRCh38: 4:70642325-70642325
36 ENAM NM_031889.3(ENAM):c.584G>T (p.Gly195Val) SNV Uncertain Significance
349493 rs143129444 GRCh37: 4:71503556-71503556
GRCh38: 4:70637839-70637839
37 ENAM NM_031889.3(ENAM):c.2573C>T (p.Ser858Leu) SNV Uncertain Significance
349503 rs774203624 GRCh37: 4:71509716-71509716
GRCh38: 4:70643999-70643999
38 ENAM NM_031889.3(ENAM):c.2172G>A (p.Pro724=) SNV Uncertain Significance
349501 rs149573021 GRCh37: 4:71509315-71509315
GRCh38: 4:70643598-70643598
39 ENAM NM_031889.3(ENAM):c.1080G>A (p.Arg360=) SNV Uncertain Significance
349497 rs765775414 GRCh37: 4:71508223-71508223
GRCh38: 4:70642506-70642506
40 ENAM NM_031889.3(ENAM):c.2688T>A (p.Tyr896Ter) SNV Uncertain Significance
632447 rs778381344 GRCh37: 4:71509831-71509831
GRCh38: 4:70644114-70644114
41 ENAM NM_031889.3(ENAM):c.*1528C>T SNV Uncertain Significance
904338 rs141963911 GRCh37: 4:71512100-71512100
GRCh38: 4:70646383-70646383
42 ENAM NM_031889.3(ENAM):c.1265C>G (p.Pro422Arg) SNV Uncertain Significance
904988 rs777996409 GRCh37: 4:71508408-71508408
GRCh38: 4:70642691-70642691
43 ENAM NM_031889.3(ENAM):c.1289A>G (p.Asn430Ser) SNV Uncertain Significance
904989 rs769265756 GRCh37: 4:71508432-71508432
GRCh38: 4:70642715-70642715
44 ENAM NM_031889.3(ENAM):c.1656C>G (p.Ile552Met) SNV Uncertain Significance
904990 rs145361338 GRCh37: 4:71508799-71508799
GRCh38: 4:70643082-70643082
45 ENAM NM_031889.3(ENAM):c.1827G>A (p.Arg609=) SNV Uncertain Significance
904991 rs375265900 GRCh37: 4:71508970-71508970
GRCh38: 4:70643253-70643253
46 ENAM NM_031889.3(ENAM):c.*222A>G SNV Uncertain Significance
905058 rs1161162098 GRCh37: 4:71510794-71510794
GRCh38: 4:70645077-70645077
47 ENAM NM_031889.3(ENAM):c.637C>T (p.Pro213Ser) SNV Uncertain Significance
904206 rs369065889 GRCh37: 4:71507780-71507780
GRCh38: 4:70642063-70642063
48 ENAM NM_031889.3(ENAM):c.950G>A (p.Arg317His) SNV Uncertain Significance
904207 rs373870116 GRCh37: 4:71508093-71508093
GRCh38: 4:70642376-70642376
49 ENAM NM_031889.3(ENAM):c.1072G>A (p.Gly358Ser) SNV Uncertain Significance
904208 rs147295492 GRCh37: 4:71508215-71508215
GRCh38: 4:70642498-70642498
50 ENAM NM_031889.3(ENAM):c.2816G>A (p.Arg939Lys) SNV Uncertain Significance
904264 rs752376600 GRCh37: 4:71509959-71509959
GRCh38: 4:70644242-70644242

Expression for Amelogenesis Imperfecta

Search GEO for disease gene expression data for Amelogenesis Imperfecta.

Pathways for Amelogenesis Imperfecta



Pathways directly related to Amelogenesis Imperfecta:

# Pathway Source
1 Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) Reactome 66

Pathways related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 FAM20A ENAM AMTN AMELX AMBN

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 9.98 TUFT1 ODAPH MMP20 LTBP3 KLK4 FAM20A
2 extracellular matrix GO:0031012 9.23 MMP20 LTBP3 ENAM AMTN AMELX

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 9.92 DLX3 AMTN AMELX AMBN
2 extracellular matrix disassembly GO:0022617 9.91 WDR72 MMP20 KLK4
3 amelogenesis GO:0097186 9.85 AMELX ENAM KLK4 MMP20 SLC24A4
4 odontogenesis GO:0042476 9.77 TUFT1 SP6 ACP4
5 positive regulation of enamel mineralization GO:0070175 9.73 ODAPH ENAM AMTN
6 enamel mineralization GO:0070166 9.73 WDR72 SLC24A4 FAM20A CNNM4 AMELY AMELX
7 positive regulation of biomineral tissue development GO:0070169 9.71 ODAPH AMTN
8 biomineral tissue development GO:0031214 9.58 WDR72 TUFT1 KLK4 FAM83H FAM20A ENAM

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 9.32 TUFT1 ENAM AMELY AMELX AMBN

Sources for Amelogenesis Imperfecta

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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