AI3A
MCID: AML057
MIFTS: 40

Amelogenesis Imperfecta, Type Iiia (AI3A)

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Iiia

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iiia:

Name: Amelogenesis Imperfecta, Type Iiia 57
Amelogenesis Imperfecta Type 3 12 58 15
Adhcai 57 12 72
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant 57 6
Amelogenesis Imperfecta Hypomineralization Type 12 72
Hypocalcified Amelogenesis Imperfecta 12 58
Amelogenesis Imperfecta, Type Iii 57 44
Amelogenesis Imperfecta Type Iii 12 72
Amelogenesis Imperfecta Type 3a 12 15
Amelogenesis Imperfecta, Type 3 13 39
Ai3a 57 72
Ai3 57 12
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant; Adhcai 57
Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type 12
Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant 72
Amelogenesis Imperfecta, Hypomineralization Type 57
Amelogenesis Imperfecta, Type Iii; Ai3 57
Amelogenesis Imperfecta 3a 72

Characteristics:

Orphanet epidemiological data:

58
hypocalcified amelogenesis imperfecta
Inheritance: Autosomal dominant,Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
amelogenesis imperfecta, type iiia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0110055 DOID:0111721
OMIM® 57 130900
OMIM Phenotypic Series 57 PS104500
SNOMED-CT 67 109471001
ICD10 32 K00.5
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 71 C0399376
Orphanet 58 ORPHA100032
MedGen 41 C0399376
UMLS 70 C0399376

Summaries for Amelogenesis Imperfecta, Type Iiia

OMIM® : 57 Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be lost soon after eruption leaving the crown composed only of dentin. The enamel has a cheesy consistency and can be scraped from the dentin. An anterior open bite has been recorded in over 60% of the cases observed. The hypocalcification type is the most frequent type of enamel dysplasia, occurring in about 1 in 20,000 individuals (Witkop and Sauk, 1976). Large masses of supragingival calculus become deposited on the teeth, and this is frequently associated with severe gingivitis or periodontitis (Winter and Brook, 1975). (130900) (Updated 20-May-2021)

MalaCards based summary : Amelogenesis Imperfecta, Type Iiia, also known as amelogenesis imperfecta type 3, is related to amelogenesis imperfecta, type iv and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type Iiia is FAM83H (Family With Sequence Similarity 83 Member H), and among its related pathways/superpathways is Synaptic vesicle cycle. Affiliated tissues include bone, and related phenotypes are dental malocclusion and amelogenesis imperfecta

Disease Ontology : 12 An amelogenesis imperfecta type 3 that has material basis in heterozygous mutation in the FAM83H gene.

UniProtKB/Swiss-Prot : 72 Amelogenesis imperfecta 3A: An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption.

Related Diseases for Amelogenesis Imperfecta, Type Iiia

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, Type Iiia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iv 32.5 TMBIM6 AMTN
2 amelogenesis imperfecta 30.3 WDR72 SLC24A4 MMP20 ITGB6 FAM83H ENAM
3 amelogenesis imperfecta, hypomaturation type, iia1 11.4
4 amelogenesis imperfecta, type iiib 11.2
5 amelogenesis imperfecta, type iiic 11.2
6 t cell and nk cell immunodeficiency 10.4 FAM83H AMBN
7 enamel erosion 10.4 MMP20 AMELX
8 dental pulp calcification 10.4 FAM83H ENAM AMELX
9 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 10.4 AMTN AMELX AMBN
10 dentine erosion 10.4 ENAM AMELX AMBN
11 amelogenesis imperfecta, type ic 10.4 MMP20 ENAM AMELX
12 pulp degeneration 10.4 ENAM AMELX AMBN
13 hermansky-pudlak syndrome 6 10.4 AMELX AMBN
14 hypoplastic amelogenesis imperfecta 10.4 ITGB6 ENAM AMBN
15 amelogenesis imperfecta, hypomaturation type, iia2 10.4 WDR72 MMP20 AMTN
16 adamantinous craniopharyngioma 10.4 MMP20 ENAM
17 papillary craniopharyngioma 10.4 MMP20 ENAM AMELX
18 immunodeficiency 9 10.4 WDR72 FAM83H
19 tooth erosion 10.3 ENAM AMELX AMBN
20 ameloblastoma 10.3 MMP20 AMELX AMBN
21 amelogenesis imperfecta, type ib 10.3 ENAM AMTN AMELX AMBN
22 dental caries 10.3 ENAM AMELX AMBN
23 enamel caries 10.3 MMP20 ENAM AMELX AMBN
24 tooth resorption 10.3 AMELX AMBN
25 osteogenesis imperfecta, type vii 10.3 STX2 ST8SIA2
26 jalili syndrome 10.3 WDR72 MMP20 FAM83H ENAM
27 dentin dysplasia 10.3 MMP20 ENAM AMELX AMBN
28 amelogenesis imperfecta hypomaturation type 10.3 WDR72 SLC24A4 MMP20 AMELX
29 kaufman oculocerebrofacial syndrome 10.3 SLC32A1 SLC17A6 PVALB
30 immunodeficiency 10 10.3 FAM83H AMBN
31 hypercementosis 10.3 MMP20 FAM83H ENAM AMELX AMBN
32 dental fluorosis 10.3 MMP20 ENAM AMTN AMELX AMBN
33 hair whorl 10.3
34 acute diarrhea 10.2 STX2 ST8SIA2
35 kagami-ogata syndrome 10.2 SLC32A1 SLC17A6 PVALB
36 tooth agenesis 10.2 MMP20 ENAM AMTN AMELX AMBN
37 trichodentoosseous syndrome 10.2 WDR72 MMP20 FAM83H ENAM AMELX AMBN
38 bone benign neoplasm 10.2 AMELX AMBN
39 teeth hard tissue disease 10.1 WDR72 MMP20 FAM83H ENAM AMTN AMELX
40 junctional epidermolysis bullosa 10.1 WDR72 MMP20 ITGB6 FAM83H ENAM AMTN
41 amelogenesis imperfecta, type ie 10.1 AMELX AMBN

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



Diseases related to Amelogenesis Imperfecta, Type Iiia

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iiia

Human phenotypes related to Amelogenesis Imperfecta, Type Iiia:

31
# Description HPO Frequency HPO Source Accession
1 dental malocclusion 31 HP:0000689
2 amelogenesis imperfecta 31 HP:0000705
3 anterior open-bite malocclusion 31 HP:0009102

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
amelogenesis imperfecta, hypocalcified
enamel is of normal thickness
enamel is soft with cheesy consistency
enamel is lost from tooth soon after eruption leaving the crown composed only of dentin
anterior open bite (60% of cases)
more

Clinical features from OMIM®:

130900 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.5 PVALB ST8SIA2
2 Decreased viability GR00249-S 9.5 ST8SIA2
3 Decreased viability GR00381-A-1 9.5 CDH24 FAM83A PVALB SLC24A4
4 Decreased viability GR00381-A-3 9.5 CDH24
5 Decreased viability GR00386-A-1 9.5 STX2
6 Decreased viability GR00402-S-2 9.5 AMTN CDH24 ENAM FAM83A FAM83H LSR

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Iiia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.23 AMBN AMTN ENAM FAM83H MMP20 SLC24A4

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iiia

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Type Iiia

Cochrane evidence based reviews: amelogenesis imperfecta, type iii

Genetic Tests for Amelogenesis Imperfecta, Type Iiia

Anatomical Context for Amelogenesis Imperfecta, Type Iiia

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Iiia:

40
Bone

Publications for Amelogenesis Imperfecta, Type Iiia

Articles related to Amelogenesis Imperfecta, Type Iiia:

(show all 24)
# Title Authors PMID Year
1
Phenotypic variation in FAM83H-associated amelogenesis imperfecta. 57 6 61
19407157 2009
2
Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. 6 57 61
18484629 2008
3
Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta. 6 57
19220331 2009
4
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. 6 57
18252228 2008
5
Molecular characterization of amelogenesis imperfecta in Chinese patients. 6
22414746 2012
6
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. 57
17024372 2007
7
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. 57
16674655 2006
8
Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta. 57
12887398 2003
9
Amelogenesis imperfecta: a genetic study. 57
3169793 1988
10
Enamel hypoplasia and anomalies of the enamel. 57
162891 1975
11
A kindred showing hypocalcified amelogenesis imperfecta: report of case. 57
4510007 1973
12
FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta. 61
33034243 2021
13
Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta. 61
33486840 2021
14
The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family. 61
33009625 2020
15
Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation. 61
31832519 2019
16
The Enamel Phenotype in Homozygous Fam83h Truncation Mice. 61
31060110 2019
17
A novel FAM83H mutation in one Chinese family with autosomal-dominant hypocalcification amelogenesis imperfecta. 61
30247735 2018
18
Fam83h mutation inhibits the mineralization in ameloblasts by activating Wnt/β-catenin signaling pathway. 61
29709481 2018
19
Fam83h null mice support a neomorphic mechanism for human ADHCAI. 61
26788537 2016
20
Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta. 61
26171361 2014
21
Target gene analyses of 39 amelogenesis imperfecta kindreds. 61
22243262 2011
22
Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation. 61
21702852 2011
23
FAM83H mutations cause ADHCAI and alter intracellular protein localization. 61
21118793 2011
24
Fam83h is associated with intracellular vesicles and ADHCAI. 61
19828885 2009

Variations for Amelogenesis Imperfecta, Type Iiia

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iiia:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAM83H NM_198488.4(FAM83H):c.973C>T (p.Arg325Ter) SNV Pathogenic 770 rs137854435 GRCh37: 8:144810658-144810658
GRCh38: 8:143728488-143728488
2 FAM83H NM_198488.4(FAM83H):c.1192C>T (p.Gln398Ter) SNV Pathogenic 771 rs137854436 GRCh37: 8:144810439-144810439
GRCh38: 8:143728269-143728269
3 FAM83H NM_198488.4(FAM83H):c.1243G>T (p.Glu415Ter) SNV Pathogenic 772 rs137854437 GRCh37: 8:144810388-144810388
GRCh38: 8:143728218-143728218
4 FAM83H NM_198488.4(FAM83H):c.891T>A (p.Tyr297Ter) SNV Pathogenic 773 rs137854438 GRCh37: 8:144810740-144810740
GRCh38: 8:143728570-143728570
5 FAM83H NM_198488.4(FAM83H):c.1380G>A (p.Trp460Ter) SNV Pathogenic 774 rs137854439 GRCh37: 8:144810251-144810251
GRCh38: 8:143728081-143728081
6 FAM83H NM_198488.4(FAM83H):c.2029C>T (p.Gln677Ter) SNV Pathogenic 775 rs137854440 GRCh37: 8:144809602-144809602
GRCh38: 8:143727432-143727432
7 FAM83H NM_198488.4(FAM83H):c.1408C>T (p.Gln470Ter) SNV Pathogenic 776 rs137854441 GRCh37: 8:144810223-144810223
GRCh38: 8:143728053-143728053
8 FAM83H NM_198488.4(FAM83H):c.860C>A (p.Ser287Ter) SNV Pathogenic 777 rs137854442 GRCh37: 8:144810771-144810771
GRCh38: 8:143728601-143728601
9 FAM83H NM_198488.4(FAM83H):c.2080G>T (p.Glu694Ter) SNV Pathogenic 778 rs137854443 GRCh37: 8:144809551-144809551
GRCh38: 8:143727381-143727381
10 FAM83H NM_198488.4(FAM83H):c.1872_1873del (p.Leu625fs) Deletion Pathogenic 779 rs796065022 GRCh37: 8:144809758-144809759
GRCh38: 8:143727588-143727589
11 FAM83H NM_198488.4(FAM83H):c.1379G>A (p.Trp460Ter) SNV Pathogenic 781 rs137854444 GRCh37: 8:144810252-144810252
GRCh38: 8:143728082-143728082
12 FAM83H NM_198488.4(FAM83H):c.1366C>T (p.Gln456Ter) SNV Pathogenic 30930 rs387907056 GRCh37: 8:144810265-144810265
GRCh38: 8:143728095-143728095
13 FAM83H NM_198488.4(FAM83H):c.921_922TC[1] (p.Leu308fs) Microsatellite Pathogenic 780 rs796065023 GRCh37: 8:144810707-144810708
GRCh38: 8:143728537-143728538
14 FAM83H NM_198488.4(FAM83H):c.926_927del (p.Val309fs) Deletion Pathogenic 488513 rs1554623490 GRCh37: 8:144810704-144810705
GRCh38: 8:143728534-143728535
15 FAM83H NM_198488.5(FAM83H):c.191_192del (p.Val64fs) Microsatellite Pathogenic 1027924 GRCh37: 8:144812561-144812562
GRCh38: 8:143730391-143730392
16 FAM83H NM_198488.5(FAM83H):c.1669G>T (p.Gly557Cys) SNV Uncertain significance 802444 rs312262803 GRCh37: 8:144809962-144809962
GRCh38: 8:143727792-143727792
17 FAM83H NM_198488.4(FAM83H):c.2884C>T (p.Leu962=) SNV Benign 263135 rs11136321 GRCh37: 8:144808747-144808747
GRCh38: 8:143726577-143726577
18 FAM83H NM_198488.4(FAM83H):c.1827C>T (p.Tyr609=) SNV Benign 263133 rs13254035 GRCh37: 8:144809804-144809804
GRCh38: 8:143727634-143727634

UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Type Iiia:

72
# Symbol AA change Variation ID SNP ID
1 FAM83H p.Gly557Cys VAR_073954 rs312262803

Expression for Amelogenesis Imperfecta, Type Iiia

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Iiia.

Pathways for Amelogenesis Imperfecta, Type Iiia

Pathways related to Amelogenesis Imperfecta, Type Iiia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.91 STX2 SLC32A1 SLC17A6

GO Terms for Amelogenesis Imperfecta, Type Iiia

Cellular components related to Amelogenesis Imperfecta, Type Iiia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.26 ENAM AMTN AMELX AMBN
2 integral component of synaptic vesicle membrane GO:0030285 9.16 SLC32A1 SLC17A6
3 extracellular matrix GO:0031012 8.92 MMP20 ENAM AMTN AMELX

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.85 ITGB6 CDH24 AMTN AMELX AMBN
2 post-translational protein modification GO:0043687 9.73 ENAM AMTN AMELX AMBN
3 cellular protein metabolic process GO:0044267 9.71 ENAM AMTN AMELX AMBN
4 odontogenesis of dentin-containing tooth GO:0042475 9.54 AMTN AMELX AMBN
5 enamel mineralization GO:0070166 9.33 WDR72 ITGB6 AMELX
6 neurotransmitter loading into synaptic vesicle GO:0098700 9.32 SLC32A1 SLC17A6
7 positive regulation of enamel mineralization GO:0070175 9.26 ENAM AMTN
8 amelogenesis GO:0097186 9.13 SLC24A4 MMP20 ENAM
9 biomineral tissue development GO:0031214 9.1 WDR72 FAM83H ENAM AMTN AMELX AMBN

Molecular functions related to Amelogenesis Imperfecta, Type Iiia 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, Type Iiia

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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