AI2A5
MCID: AML062
MIFTS: 18

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 57 40 73
Ai2a5 57 12 75
Amelogenesis Imperfecta, Hypomaturation Type Iia5 29 6
Amelogenesis Imperfecta, Hypomaturation Type, 2a5 75
Amelogenesis Imperfecta Hypomaturation Type Iia5 12
Amelogenesis Imperfecta Hypomaturation Type 2a5 12
Amelogenesis Imperfecta, Type Iia5 57
Amelogenesis Imperfecta Type Iia5 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
amelogenesis imperfecta, hypomaturation type, iia5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615887
Disease Ontology 12 DOID:0110063
ICD10 33 K00.5
MeSH 44 D000567
SNOMED-CT via HPO 69 258211005 80967001 78494001
UMLS 73 C4014578

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
amelogenesis imperfecta
caries
soft enamel
discolored enamel (yellow-brown)
normal enamel volume
more

Clinical features from OMIM:

615887

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

32
# Description HPO Frequency HPO Source Accession
1 carious teeth 32 HP:0000670
2 amelogenesis imperfecta 32 HP:0000705

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 29 SLC24A4

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

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

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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