AI2A2
MCID: AML014
MIFTS: 20

Amelogenesis Imperfecta, Hypomaturation Type, Iia2 (AI2A2)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

MalaCards integrated aliases for Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

Name: Amelogenesis Imperfecta, Hypomaturation Type, Iia2 57 29 6 40 73
Ai2a2 57 12 75
Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 12 75
Amelogenesis Imperfecta, Type Iia2 57 13
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2 57
Amelogenesis Imperfecta, Hypomaturation Type, 2a2 75
Amelogenesis Imperfecta Hypomaturation Type Iia2 12
Amelogenesis Imperfecta 2 Hypocalcification Type 75
Amelogenesis Imperfecta Hypomaturation Type 2a2 12
Amelogenesis Imperfecta Type Iia2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
amelogenesis imperfecta, hypomaturation type, iia2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612529
Disease Ontology 12 DOID:0110060
ICD10 33 K00.5
MedGen 42 C2675858
MeSH 44 D000567
SNOMED-CT via HPO 69 258211005 78494001 67289000
UMLS 73 C2675858

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

OMIM : 57 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, Hypomaturation Type, Iia2, also known as ai2a2, is related to amelogenesis imperfecta, type iv and amelogenesis imperfecta, hypomaturation type, iia1. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia2 is MMP20 (Matrix Metallopeptidase 20). Related phenotypes are amelogenesis imperfecta and anterior open bite

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

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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

# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iv 11.5
2 amelogenesis imperfecta, hypomaturation type, iia1 11.5
3 amelogenesis imperfecta hypomaturation type 9.7 LOC101928477 MMP20

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
rough tooth surface
amelogenesis imperfecta, hypomaturation type
yellowish-brown enamel
thin enamel layer
anterior open bite (in some patients)
more

Clinical features from OMIM:

612529

Human phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

32
# 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, Hypomaturation Type, Iia2

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

Genetic Tests for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Genetic tests related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

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

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

6
# 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.954-2A> T single nucleotide variant Pathogenic rs140213840 GRCh37 Chromosome 11, 102465490: 102465490
3 MMP20 NM_004771.3(MMP20): c.678T> A (p.His226Gln) single nucleotide variant Pathogenic rs587777515 GRCh38 Chromosome 11, 102609070: 102609070
4 MMP20 NM_004771.3(MMP20): c.678T> A (p.His226Gln) single nucleotide variant Pathogenic rs587777515 GRCh37 Chromosome 11, 102479801: 102479801
5 MMP20 NM_004771.3(MMP20): c.102G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs587777516 GRCh38 Chromosome 11, 102625218: 102625218
6 MMP20 NM_004771.3(MMP20): c.102G> A (p.Trp34Ter) single nucleotide variant Pathogenic rs587777516 GRCh37 Chromosome 11, 102495949: 102495949
7 MMP20 NM_004771.3(MMP20): c.611A> G (p.His204Arg) single nucleotide variant Pathogenic rs786204826 GRCh38 Chromosome 11, 102609943: 102609943
8 MMP20 NM_004771.3(MMP20): c.611A> G (p.His204Arg) single nucleotide variant Pathogenic rs786204826 GRCh37 Chromosome 11, 102480674: 102480674

Expression for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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

Pathways for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

GO Terms for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Sources for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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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