MCID: AML023
MIFTS: 12

Amelogenesis Imperfecta, Type Iia2 malady

Genetic diseases (common) category

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia2

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Aliases & Descriptions for Amelogenesis Imperfecta, Type Iia2:

Name: Amelogenesis Imperfecta, Type Iia2 46 9
 
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 46 20 22


Classifications:



External Ids:

OMIM46 612529

Summaries for Amelogenesis Imperfecta, Type Iia2

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OMIM:46 Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal... (612529) more...

MalaCards based summary: Amelogenesis Imperfecta, Type Iia2, is also known as amelogenesis imperfecta, hypomaturation type, iia2, and has symptoms including anterior open bite, autosomal recessive inheritance and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type Iia2 is MMP20 (matrix metallopeptidase 20).

Related Diseases for Amelogenesis Imperfecta, Type Iia2

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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 autosomal recessive inheritance HP:0000007
3 amelogenesis imperfecta HP:0000705

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia2

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Drug clinical trials:

Search ClinicalTrials for Amelogenesis Imperfecta, Type Iia2

Search 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, Iia220 22 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 variantPathogenicGRCh38Chr 11, 102609070: 102609070
2MMP20NM_004771.3(MMP20): c.102G> A (p.Trp34Ter)single nucleotide variantPathogenicGRCh38Chr 11, 102625218: 102625218
3MMP20NM_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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet