MCID: AML023
MIFTS: 20

Amelogenesis Imperfecta, Type Iia2

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia2

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iia2:

Name: Amelogenesis Imperfecta, Type Iia2 54 13
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 24 29 69
Ai2a2 12 24 71
Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 12 71
Amelogenesis Imperfecta, Hypomaturation Type, 2a2 71
Amelogenesis Imperfecta Hypomaturation Type Iia2 12
Amelogenesis Imperfecta 2 Hypocalcification Type 71
Amelogenesis Imperfecta Hypomaturation Type 2a2 12
Amelogenesis Imperfecta Type Iia2 12

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
amelogenesis imperfecta, type iia2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612529
Disease Ontology 12 DOID:0110060
ICD10 33 K00.5
MedGen 40 C2675858
MeSH 42 D000567
SNOMED-CT via HPO 65 258211005 78494001 67289000

Summaries for Amelogenesis Imperfecta, Type Iia2

OMIM : 54
Autosomal recessive amelogenesis imperfecta 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). (612529)

MalaCards based summary : Amelogenesis Imperfecta, Type Iia2, also known as amelogenesis imperfecta, hypomaturation type, iia2, is related to amelogenesis imperfecta, type iv and amelogenesis imperfecta, type iia1, and has symptoms including amelogenesis imperfecta and anterior open bite. An important gene associated with Amelogenesis Imperfecta, Type Iia2 is MMP20 (Matrix Metallopeptidase 20).

UniProtKB/Swiss-Prot : 71 Amelogenesis imperfecta, hypomaturation type, 2A2: 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.

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).

Related Diseases for Amelogenesis Imperfecta, Type Iia2

Diseases related to Amelogenesis Imperfecta, Type Iia2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iv 11.2
2 amelogenesis imperfecta, type iia1 11.2

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iia2

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Teeth:
increased sensitivity to thermal changes
enamel layer is slightly more radioopaque than dentin
anterior open bite (in some patients)
rough tooth surface
thin enamel layer
more

Clinical features from OMIM:

612529

Human phenotypes related to Amelogenesis Imperfecta, Type Iia2:

32
id Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 32 HP:0000705
2 anterior open bite 32 occasional (7.5%) HP:0200095

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia2

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Type Iia2

Genetic Tests for Amelogenesis Imperfecta, Type Iia2

Genetic tests related to Amelogenesis Imperfecta, Type Iia2:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 29 24 MMP20

Anatomical Context for Amelogenesis Imperfecta, Type Iia2

Publications for Amelogenesis Imperfecta, Type Iia2

Variations for Amelogenesis Imperfecta, Type Iia2

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iia2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MMP20 NM_004771.3(MMP20): c.954-2A> T single nucleotide variant Pathogenic rs140213840 GRCh38 Chromosome 11, 102594759: 102594759
2 MMP20 NM_004771.3(MMP20): c.678T> A (p.His226Gln) single nucleotide variant Pathogenic rs587777515 GRCh38 Chromosome 11, 102609070: 102609070
3 MMP20 NM_004771.3(MMP20): c.102G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs587777516 GRCh38 Chromosome 11, 102625218: 102625218
4 MMP20 NM_004771.3(MMP20): c.611A> G (p.His204Arg) single nucleotide variant Pathogenic rs786204826 GRCh38 Chromosome 11, 102609943: 102609943

Expression for Amelogenesis Imperfecta, Type Iia2

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Iia2.

Pathways for Amelogenesis Imperfecta, Type Iia2

GO Terms for Amelogenesis Imperfecta, Type Iia2

Sources for Amelogenesis Imperfecta, Type Iia2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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