MCID: AML023
MIFTS: 18

Amelogenesis Imperfecta, Type Iia2 malady

Categories: Genetic diseases (common), Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia2

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Aliases & Descriptions for Amelogenesis Imperfecta, Type Iia2:

Name: Amelogenesis Imperfecta, Type Iia2 52 12
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 24 27 68
Ai2a2 11 24 70
Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 11 70
Amelogenesis Imperfecta, Hypomaturation Type, 2a2 70
 
Amelogenesis Imperfecta 2 Hypocalcification Type 70
Amelogenesis Imperfecta Hypomaturation Type Iia2 11
Amelogenesis Imperfecta Hypomaturation Type 2a2 11
Amelogenesis Imperfecta Type Iia2 11

Characteristics:

HPO:

64
amelogenesis imperfecta, type iia2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 612529
Disease Ontology11 DOID:0110060
ICD1030 K00.5
MedGen37 C2675858
MeSH39 D000567

Summaries for Amelogenesis Imperfecta, Type Iia2

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OMIM:52 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).

Disease Ontology:11 An amelogenesis imperfecta that has material basis in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20).

UniProtKB/Swiss-Prot:70 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 iv11.2
2amelogenesis imperfecta, type iia110.9

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iia2

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Symptoms by clinical synopsis from OMIM:

612529

Clinical features from OMIM:

612529

Human phenotypes related to Amelogenesis Imperfecta, Type Iia2:

 64
id Description HPO Frequency HPO Source Accession
1 anterior open bite64 rare (5%) HP:0200095
2 amelogenesis imperfecta64 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, Iia227 24 MMP20

Anatomical Context for Amelogenesis Imperfecta, Type Iia2

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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)SNVPathogenicrs587777515GRCh38Chr 11, 102609070: 102609070
2MMP20NM_004771.3(MMP20): c.102G> A (p.Trp34Ter)SNVPathogenicrs587777516GRCh38Chr 11, 102625218: 102625218
3MMP20NM_004771.3(MMP20): c.611A> G (p.His204Arg)SNVPathogenicrs786204826GRCh38Chr 11, 102609943: 102609943
4MMP20NM_004771.3(MMP20): c.954-2A> TSNVPathogenicrs140213840GRCh38Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet