MCID: AML023
MIFTS: 18

Amelogenesis Imperfecta, Type Iia2 malady

Category: Genetic diseases (common)

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia2

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Aliases & Descriptions for Amelogenesis Imperfecta, Type Iia2:

Name: Amelogenesis Imperfecta, Type Iia2 50 12
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 23 25 66
Ai2a2 23 68
 
Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 68
Amelogenesis Imperfecta, Hypomaturation Type, 2a2 68
Amelogenesis Imperfecta 2 Hypocalcification Type 68

Characteristics:

HPO:

62
amelogenesis imperfecta, type iia2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 612529
MedGen35 C2675858
MeSH37 D000567

Summaries for Amelogenesis Imperfecta, Type Iia2

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OMIM:50 Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal... (612529) more...

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 anterior open bite and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type Iia2 is MMP20 (Matrix Metallopeptidase 20).

UniProtKB/Swiss-Prot:68 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, Type Iia2

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

idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta, type iv11.3
2amelogenesis imperfecta, type iia110.0

Symptoms for Amelogenesis Imperfecta, Type Iia2

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Symptoms by clinical synopsis from OMIM:

612529

Clinical features from OMIM:

612529

HPO human phenotypes related to Amelogenesis Imperfecta, Type Iia2:

id Description Frequency HPO Source Accession
1 anterior open bite rare (5%) HP:0200095
2 amelogenesis imperfecta HP:0000705

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia2

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Interventional clinical trials:

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

Genetic Tests for Amelogenesis Imperfecta, Type Iia2

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Genetic tests related to Amelogenesis Imperfecta, Type Iia2:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia225 23 MMP20

Anatomical Context for Amelogenesis Imperfecta, Type Iia2

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Animal Models for Amelogenesis Imperfecta, Type Iia2 or affiliated genes

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Publications for Amelogenesis Imperfecta, Type Iia2

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Variations for Amelogenesis Imperfecta, Type Iia2

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Clinvar genetic disease variations for Amelogenesis Imperfecta, Type Iia2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MMP20NM_004771.3(MMP20): c.678T> A (p.His226Gln)single nucleotide variantPathogenicrs587777515GRCh38Chr 11, 102609070: 102609070
2MMP20NM_004771.3(MMP20): c.102G> A (p.Trp34Ter)single nucleotide variantPathogenicrs587777516GRCh38Chr 11, 102625218: 102625218
3MMP20NM_004771.3(MMP20): c.611A> G (p.His204Arg)single nucleotide variantPathogenicrs786204826GRCh38Chr 11, 102609943: 102609943
4MMP20NM_004771.3(MMP20): c.954-2A> Tsingle nucleotide variantPathogenicrs140213840GRCh38Chr 11, 102594759: 102594759

Expression for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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

Pathways for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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GO Terms for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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Sources for Amelogenesis Imperfecta, Type Iia2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet