MCID: AML023

Amelogenesis Imperfecta, Type Iia2 malady

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Summaries for Amelogenesis Imperfecta, Type Iia2

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MalaCards based summary: Amelogenesis Imperfecta, Type Iia2 and has symptoms including An important gene associated with Amelogenesis Imperfecta, Type Iia2 is MMP20 (matrix metallopeptidase 20).

Description from OMIM:46 612529

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia2

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Amelogenesis Imperfecta, Type Iia2, Aliases & Descriptions:

Name: Amelogenesis Imperfecta, Type Iia2 46


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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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:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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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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Products for genes affiliated with Amelogenesis Imperfecta, Type Iia2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Amelogenesis Imperfecta, Type Iia2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet