AI2A5
MCID: AML062
MIFTS: 20

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 56 39 71
Ai2a5 56 12 73
Amelogenesis Imperfecta, Hypomaturation Type Iia5 29 6
Amelogenesis Imperfecta, Hypomaturation Type, 2a5 73
Amelogenesis Imperfecta Hypomaturation Type Iia5 12
Amelogenesis Imperfecta Hypomaturation Type 2a5 12
Amelogenesis Imperfecta, Type Iia5 56
Amelogenesis Imperfecta Type Iia5 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
amelogenesis imperfecta, hypomaturation type, iia5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110063
OMIM 56 615887
OMIM Phenotypic Series 56 PS104500
MeSH 43 D000567
ICD10 32 K00.5
SNOMED-CT via HPO 68 258211005 78494001 80967001
UMLS 71 C4014578

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

OMIM : 56 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). Affiliated tissues include salivary gland, and 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 carious teeth 31 HP:0000670
2 amelogenesis imperfecta 31 HP:0000705

Symptoms via clinical synopsis from OMIM:

56
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 29 SLC24A4

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

MalaCards organs/tissues related to Amelogenesis Imperfecta, Hypomaturation Type, Iia5:

40
Salivary Gland

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Articles related to Amelogenesis Imperfecta, Hypomaturation Type, Iia5:

# Title Authors PMID Year
1
STIM1 and SLC24A4 Are Critical for Enamel Maturation. 56 6
24621671 2014
2
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. 56 6
23375655 2013
3
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 56
3150442 1988

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia5

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC24A4 NM_153648.3(SLC24A4):c.1000C>T (p.Gln334Ter)SNV Pathogenic 689492 14:92922889-92922889 14:92456545-92456545
2 SLC24A4 NM_153648.3(SLC24A4):c.823C>T (p.Arg275Ter)SNV Pathogenic 139657 rs587777535 14:92920378-92920378 14:92454034-92454034
3 SLC24A4 NM_153648.3(SLC24A4):c.1303A>T (p.Ser435Cys)SNV Pathogenic 139658 rs587777536 14:92953082-92953082 14:92486738-92486738
4 SLC24A4 NM_153648.3(SLC24A4):c.245C>T (p.Ala82Val)SNV Pathogenic 139659 rs587777537 14:92908476-92908476 14:92442132-92442132

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

73
# Symbol AA change Variation ID SNP ID
1 SLC24A4 p.Ser499Cys VAR_070183 rs587777536
2 SLC24A4 p.Ala146Val VAR_071475 rs587777537

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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