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 49 11
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 22 24 65
Ai2a2 22 67
 
Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 67
Amelogenesis Imperfecta, Hypomaturation Type, 2a2 67
Amelogenesis Imperfecta 2 Hypocalcification Type 67

Characteristics:

HPO:

61
amelogenesis imperfecta, type iia2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 612529
MedGen34 C2675858
MeSH36 D000567
UMLS65 C2675858

Summaries for Amelogenesis Imperfecta, Type Iia2

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OMIM:49 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 biteand amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type Iia2 is MMP20 (Matrix Metallopeptidase 20).

UniProtKB/Swiss-Prot:67 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 iv11.7
2amelogenesis imperfecta, type iia110.4

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, Iia222 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet