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 51 12
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 24 26 67
Ai2a2 11 24 69
Amelogenesis Imperfecta Pigmented Hypomaturation Type 2 11 69
Amelogenesis Imperfecta, Hypomaturation Type, 2a2 69
 
Amelogenesis Imperfecta 2 Hypocalcification Type 69
Amelogenesis Imperfecta Hypomaturation Type Iia2 11
Amelogenesis Imperfecta Hypomaturation Type 2a2 11
Amelogenesis Imperfecta Type Iia2 11

Characteristics:

HPO:

63
amelogenesis imperfecta, type iia2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 612529
Disease Ontology11 DOID:0110060
ICD1029 K00.5
MedGen36 C2675858
MeSH38 D000567

Summaries for Amelogenesis Imperfecta, Type Iia2

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OMIM:51 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:69 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 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:

 63
id Description HPO Frequency HPO Source Accession
1 anterior open bite63 rare (5%) HP:0200095
2 amelogenesis imperfecta63 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, Iia226 24 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)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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet