AI2A5
MCID: AML062
MIFTS: 19

Amelogenesis Imperfecta, Hypomaturation Type, Iia5 (AI2A5)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

MalaCards integrated aliases for Amelogenesis Imperfecta, Hypomaturation Type, Iia5:

Name: Amelogenesis Imperfecta, Hypomaturation Type, Iia5 58 41 74
Ai2a5 58 12 76
Amelogenesis Imperfecta, Hypomaturation Type Iia5 30 6
Amelogenesis Imperfecta, Hypomaturation Type, 2a5 76
Amelogenesis Imperfecta Hypomaturation Type Iia5 12
Amelogenesis Imperfecta Hypomaturation Type 2a5 12
Amelogenesis Imperfecta, Type Iia5 58
Amelogenesis Imperfecta Type Iia5 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amelogenesis imperfecta, hypomaturation type, iia5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110063
OMIM 58 615887
MeSH 45 D000567
ICD10 34 K00.5
SNOMED-CT via HPO 70 258211005 78494001 80967001
UMLS 74 C4014578

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

OMIM : 58 Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989). (615887)

MalaCards based summary : Amelogenesis Imperfecta, Hypomaturation Type, Iia5, is also known as ai2a5. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia5 is SLC24A4 (Solute Carrier Family 24 Member 4). Related phenotypes are carious teeth and amelogenesis imperfecta

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous mutation in the SLC24A4 gene on chromosome 14q32.

UniProtKB/Swiss-Prot : 76 Amelogenesis imperfecta, hypomaturation type, 2A5: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

Related Diseases for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Human phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia5:

33
# Description HPO Frequency HPO Source Accession
1 carious teeth 33 HP:0000670
2 amelogenesis imperfecta 33 HP:0000705

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
amelogenesis imperfecta
caries
soft enamel
discolored enamel (yellow-brown)
normal enamel volume
more

Clinical features from OMIM:

615887

Drugs & Therapeutics for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Genetic Tests for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Genetic tests related to Amelogenesis Imperfecta, Hypomaturation Type, Iia5:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type Iia5 30 SLC24A4

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Articles related to Amelogenesis Imperfecta, Hypomaturation Type, Iia5:

# Title Authors Year
1
STIM1 and SLC24A4 Are Critical for Enamel Maturation. ( 24621671 )
2014
2
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. ( 23375655 )
2013

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia5:

76
# Symbol AA change Variation ID SNP ID
1 SLC24A4 p.Ser499Cys VAR_070183 rs587777536
2 SLC24A4 p.Ala146Val VAR_071475 rs587777537

ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC24A4 NM_153648.3(SLC24A4): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs587777535 GRCh37 Chromosome 14, 92920378: 92920378
2 SLC24A4 NM_153648.3(SLC24A4): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs587777535 GRCh38 Chromosome 14, 92454034: 92454034
3 SLC24A4 NM_153648.3(SLC24A4): c.1303A> T (p.Ser435Cys) single nucleotide variant Pathogenic rs587777536 GRCh37 Chromosome 14, 92953082: 92953082
4 SLC24A4 NM_153648.3(SLC24A4): c.1303A> T (p.Ser435Cys) single nucleotide variant Pathogenic rs587777536 GRCh38 Chromosome 14, 92486738: 92486738
5 SLC24A4 NM_153648.3(SLC24A4): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs587777537 GRCh37 Chromosome 14, 92908476: 92908476
6 SLC24A4 NM_153648.3(SLC24A4): c.245C> T (p.Ala82Val) single nucleotide variant Pathogenic rs587777537 GRCh38 Chromosome 14, 92442132: 92442132

Expression for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Hypomaturation Type, Iia5.

Pathways for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

GO Terms for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Sources for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

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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