AI3A
MCID: AML057
MIFTS: 33

Amelogenesis Imperfecta, Type Iiia (AI3A)

Categories: 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 58
Adhcai 58 12 76
Amelogenesis Imperfecta Hypomineralization Type 12 76
Amelogenesis Imperfecta Type Iii 12 76
Amelogenesis Imperfecta Type 3a 12 15
Ai3a 58 76
Ai3 58 12
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant; Adhcai 58
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant 58
Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type 12
Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant 76
Amelogenesis Imperfecta, Hypomineralization Type 58
Amelogenesis Imperfecta, Type Iii; Ai3 58
Amelogenesis Imperfecta, Type Iii 58
Amelogenesis Imperfecta 3a 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
amelogenesis imperfecta, type iiia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110055
OMIM 58 130900
MeSH 45 D000567
ICD10 34 K00.5
MedGen 43 C0399376

Summaries for Amelogenesis Imperfecta, Type Iiia

OMIM : 58 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)

MalaCards based summary : Amelogenesis Imperfecta, Type Iiia, also known as adhcai, is related to amelogenesis imperfecta, type iv and amelogenesis imperfecta, hypomaturation type, iia1. An important gene associated with Amelogenesis Imperfecta, Type Iiia is FAM83H (Family With Sequence Similarity 83 Member H). Related phenotypes are dental malocclusion and amelogenesis imperfecta

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

UniProtKB/Swiss-Prot : 76 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

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:

33
# Description HPO Frequency HPO Source Accession
1 dental malocclusion 33 HP:0000689
2 amelogenesis imperfecta 33 HP:0000705
3 anterior open bite 33 HP:0200095

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Iiia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 ENAM FAM83H MMP20 WDR72

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iiia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Time Effects of a Berry Extract Upon Cerebral Blood Flow. Completed NCT01540123 Not Applicable

Search NIH Clinical Center for Amelogenesis Imperfecta, Type Iiia

Genetic Tests for Amelogenesis Imperfecta, Type Iiia

Anatomical Context for Amelogenesis Imperfecta, Type Iiia

Publications for Amelogenesis Imperfecta, Type Iiia

Articles related to Amelogenesis Imperfecta, Type Iiia:

# Title Authors Year
1
Fam83h null mice support a neomorphic mechanism for human ADHCAI. ( 26788537 )
2016
2
Molecular characterization of amelogenesis imperfecta in Chinese patients. ( 22414746 )
2012
3
FAM83H mutations cause ADHCAI and alter intracellular protein localization. ( 21118793 )
2011
4
Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta. ( 19220331 )
2009
5
Phenotypic variation in FAM83H-associated amelogenesis imperfecta. ( 19407157 )
2009
6
Fam83h is associated with intracellular vesicles and ADHCAI. ( 19828885 )
2009
7
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. ( 18252228 )
2008
8
Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. ( 18484629 )
2008

Variations for Amelogenesis Imperfecta, Type Iiia

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

76
# Symbol AA change Variation ID SNP ID
1 FAM83H p.Gly557Cys VAR_073954 rs312262803

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iiia:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM83H NM_198488.3(FAM83H): c.973C> T (p.Arg325Ter) single nucleotide variant Pathogenic rs137854435 GRCh37 Chromosome 8, 144810658: 144810658
2 FAM83H NM_198488.3(FAM83H): c.973C> T (p.Arg325Ter) single nucleotide variant Pathogenic rs137854435 GRCh38 Chromosome 8, 143728488: 143728488
3 FAM83H NM_198488.3(FAM83H): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs137854436 GRCh37 Chromosome 8, 144810439: 144810439
4 FAM83H NM_198488.3(FAM83H): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs137854436 GRCh38 Chromosome 8, 143728269: 143728269
5 FAM83H NM_198488.3(FAM83H): c.1243G> T (p.Glu415Ter) single nucleotide variant Pathogenic rs137854437 GRCh37 Chromosome 8, 144810388: 144810388
6 FAM83H NM_198488.3(FAM83H): c.1243G> T (p.Glu415Ter) single nucleotide variant Pathogenic rs137854437 GRCh38 Chromosome 8, 143728218: 143728218
7 FAM83H NM_198488.3(FAM83H): c.891T> A (p.Tyr297Ter) single nucleotide variant Pathogenic rs137854438 GRCh37 Chromosome 8, 144810740: 144810740
8 FAM83H NM_198488.3(FAM83H): c.891T> A (p.Tyr297Ter) single nucleotide variant Pathogenic rs137854438 GRCh38 Chromosome 8, 143728570: 143728570
9 FAM83H NM_198488.3(FAM83H): c.1380G> A (p.Trp460Ter) single nucleotide variant Pathogenic rs137854439 GRCh37 Chromosome 8, 144810251: 144810251
10 FAM83H NM_198488.3(FAM83H): c.1380G> A (p.Trp460Ter) single nucleotide variant Pathogenic rs137854439 GRCh38 Chromosome 8, 143728081: 143728081
11 FAM83H NM_198488.3(FAM83H): c.2029C> T (p.Gln677Ter) single nucleotide variant Pathogenic rs137854440 GRCh37 Chromosome 8, 144809602: 144809602
12 FAM83H NM_198488.3(FAM83H): c.2029C> T (p.Gln677Ter) single nucleotide variant Pathogenic rs137854440 GRCh38 Chromosome 8, 143727432: 143727432
13 FAM83H NM_198488.3(FAM83H): c.1408C> T (p.Gln470Ter) single nucleotide variant Pathogenic rs137854441 GRCh37 Chromosome 8, 144810223: 144810223
14 FAM83H NM_198488.3(FAM83H): c.1408C> T (p.Gln470Ter) single nucleotide variant Pathogenic rs137854441 GRCh38 Chromosome 8, 143728053: 143728053
15 FAM83H NM_198488.3(FAM83H): c.860C> A (p.Ser287Ter) single nucleotide variant Pathogenic rs137854442 GRCh37 Chromosome 8, 144810771: 144810771
16 FAM83H NM_198488.3(FAM83H): c.860C> A (p.Ser287Ter) single nucleotide variant Pathogenic rs137854442 GRCh38 Chromosome 8, 143728601: 143728601
17 FAM83H NM_198488.3(FAM83H): c.2080G> T (p.Glu694Ter) single nucleotide variant Pathogenic rs137854443 GRCh37 Chromosome 8, 144809551: 144809551
18 FAM83H NM_198488.3(FAM83H): c.2080G> T (p.Glu694Ter) single nucleotide variant Pathogenic rs137854443 GRCh38 Chromosome 8, 143727381: 143727381
19 FAM83H NM_198488.3(FAM83H): c.1872_1873delCC (p.Leu625Alafs) deletion Pathogenic rs796065022 GRCh38 Chromosome 8, 143727588: 143727589
20 FAM83H NM_198488.3(FAM83H): c.1872_1873delCC (p.Leu625Alafs) deletion Pathogenic rs796065022 GRCh37 Chromosome 8, 144809758: 144809759
21 FAM83H NM_198488.3(FAM83H): c.923_924delTC (p.Leu308Argfs) deletion Pathogenic rs796065023 GRCh38 Chromosome 8, 143728537: 143728538
22 FAM83H NM_198488.3(FAM83H): c.923_924delTC (p.Leu308Argfs) deletion Pathogenic rs796065023 GRCh37 Chromosome 8, 144810707: 144810708
23 FAM83H NM_198488.3(FAM83H): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic rs137854444 GRCh37 Chromosome 8, 144810252: 144810252
24 FAM83H NM_198488.3(FAM83H): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic rs137854444 GRCh38 Chromosome 8, 143728082: 143728082
25 FAM83H NM_198488.3(FAM83H): c.1366C> T (p.Gln456Ter) single nucleotide variant Pathogenic rs387907056 GRCh37 Chromosome 8, 144810265: 144810265
26 FAM83H NM_198488.3(FAM83H): c.1366C> T (p.Gln456Ter) single nucleotide variant Pathogenic rs387907056 GRCh38 Chromosome 8, 143728095: 143728095
27 FAM83H NM_198488.3(FAM83H): c.2884C> T (p.Leu962=) single nucleotide variant Benign rs11136321 GRCh38 Chromosome 8, 143726577: 143726577
28 FAM83H NM_198488.3(FAM83H): c.2884C> T (p.Leu962=) single nucleotide variant Benign rs11136321 GRCh37 Chromosome 8, 144808747: 144808747
29 FAM83H NM_198488.3(FAM83H): c.1827C> T (p.Tyr609=) single nucleotide variant Benign rs13254035 GRCh38 Chromosome 8, 143727634: 143727634
30 FAM83H NM_198488.3(FAM83H): c.1827C> T (p.Tyr609=) single nucleotide variant Benign rs13254035 GRCh37 Chromosome 8, 144809804: 144809804
31 FAM83H NM_198488.3(FAM83H): c.926_927delTG (p.Val309Glyfs) deletion Pathogenic rs1554623490 GRCh37 Chromosome 8, 144810704: 144810705
32 FAM83H NM_198488.3(FAM83H): c.926_927delTG (p.Val309Glyfs) deletion Pathogenic rs1554623490 GRCh38 Chromosome 8, 143728534: 143728535

Expression for Amelogenesis Imperfecta, Type Iiia

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

Pathways for Amelogenesis Imperfecta, Type Iiia

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 extracellular matrix GO:0031012 8.8 AMELX ENAM MMP20

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.32 AMELX ENAM
2 odontogenesis of dentin-containing tooth GO:0042475 9.26 AMELX ENAM
3 enamel mineralization GO:0070166 9.16 AMELX WDR72
4 amelogenesis GO:0097186 8.96 ENAM MMP20
5 biomineral tissue development GO:0031214 8.92 AMELX ENAM FAM83H WDR72

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 8.62 AMELX ENAM

Sources for Amelogenesis Imperfecta, Type Iiia

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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