AI2A2
MCID: AML014
MIFTS: 22

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 58 30 6 41 74
Ai2a2 58 12 76
Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 12 76
Amelogenesis Imperfecta, Type Iia2 58 13
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2 58
Amelogenesis Imperfecta, Hypomaturation Type, 2a2 76
Amelogenesis Imperfecta Hypomaturation Type Iia2 12
Amelogenesis Imperfecta 2 Hypocalcification Type 76
Amelogenesis Imperfecta Hypomaturation Type 2a2 12
Amelogenesis Imperfecta Type Iia2 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amelogenesis imperfecta, hypomaturation type, iia2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110060
OMIM 58 612529
MeSH 45 D000567
ICD10 34 K00.5
MedGen 43 C2675858
SNOMED-CT via HPO 70 258211005 67289000 78494001
UMLS 74 C2675858

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

OMIM : 58 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 anterior open bite and amelogenesis imperfecta

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

UniProtKB/Swiss-Prot : 76 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 9.5 LOC101928477 MMP20

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

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

33
# Description HPO Frequency HPO Source Accession
1 anterior open bite 33 occasional (7.5%) HP:0200095
2 amelogenesis imperfecta 33 HP:0000705

Symptoms via clinical synopsis from OMIM:

58
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

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 30 MMP20

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Articles related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2:

# Title Authors Year
1
Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. ( 23355523 )
2013
2
Premature stop codon in MMP20 causing amelogenesis imperfecta. ( 18096894 )
2008
3
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. ( 15744043 )
2005
4
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. ( 16246936 )
2005

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
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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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