MCID: AML024
MIFTS: 22

Amelogenesis Imperfecta, Type Iia1 malady

Summaries for Amelogenesis Imperfecta, Type Iia1

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46OMIM, 32MalaCards
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MalaCards: Amelogenesis Imperfecta, Type Iia1, also known as hypomaturation amelogenesis imperfecta, is related to amelogenesis imperfecta and dentin dysplasia. An important gene associated with Amelogenesis Imperfecta, Type Iia1 is KLK4 (kallikrein-related peptidase 4), and among its related pathways is Collagen biosynthesis and modifying enzymes. Related mouse phenotype craniofacial.

Description from OMIM:46 204700,301200,612529,613211,614832

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia1

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46OMIM, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hypomaturation amelogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive


Aliases & Descriptions:

amelogenesis imperfecta, type iia1 46
hypomaturation amelogenesis imperfecta 48
amelogenesis imperfecta type 2 48


External Ids:

ICD10 via Orphanet26 K00.5
SNOMED-CT via Orphanet57 109475005
UMLS via Orphanet61 C0399372
MESH via Orphanet35 C536606

Related Diseases for Amelogenesis Imperfecta, Type Iia1

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17GeneCards, 18GeneDecks
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Diseases related to Amelogenesis Imperfecta, Type Iia1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta31.3C4orf26, KLK4, AMELX, MMP20, WDR72
2dentin dysplasia10.0MMP20
3dentinogenesis imperfecta10.0MMP20
4dental fluorosis10.0MMP20, AMELX

Clinical Features for Amelogenesis Imperfecta, Type Iia1

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46OMIM
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Clinical features from OMIM:

204700,301200,612529,613211,614832

Clinical synopsis from OMIM:

204700

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Amelogenesis Imperfecta, Type Iia1

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Anatomical Context for Amelogenesis Imperfecta, Type Iia1

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Animal Models for Amelogenesis Imperfecta, Type Iia1 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Iia1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0MMP20, AMELX, KLK4

Publications for Amelogenesis Imperfecta, Type Iia1

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Genetic Variations for Amelogenesis Imperfecta, Type Iia1

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Expression for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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Pathways for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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53Reactome, 51QIAGEN
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Pathways related to Amelogenesis Imperfecta, Type Iia1 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.5MMP20, KLK4

Compounds for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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GO Terms for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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16Gene Ontology
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Cellular components related to Amelogenesis Imperfecta, Type Iia1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:0055789.1MMP20, AMELX
2extracellular regionGO:0055768.7MMP20, C4orf26, KLK4

Biological processes related to Amelogenesis Imperfecta, Type Iia1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proteolysisGO:0065089.5MMP20, KLK4
2amelogenesisGO:0971869.2MMP20, KLK4

Products for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amelogenesis Imperfecta, Type Iia1

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet