MCID: AML024
MIFTS: 24

Amelogenesis Imperfecta, Type Iia1 malady

Oral diseases, Rare diseases categories

Summaries for Amelogenesis Imperfecta, Type Iia1

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OMIM:46 Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal...204700 more...

MalaCards based summary: Amelogenesis Imperfecta, Type Iia1, also known as hypomaturation amelogenesis imperfecta, is related to amelogenesis imperfecta and dental fluorosis, and has symptoms including autosomal recessive inheritanceand amelogenesis imperfecta. 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.

Descriptions from OMIM:46 301200,612529,613211,614832,615887

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia1

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Sources:
46OMIM, 48Orphanet, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Amelogenesis Imperfecta, Type Iia1, Aliases & Descriptions:

Name: Amelogenesis Imperfecta, Type Iia1 46
Hypomaturation Amelogenesis Imperfecta 48
 
Amelogenesis Imperfecta Type 2 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Oral diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

MESH via Orphanet35 C536606
ICD10 via Orphanet27 K00.5
UMLS via Orphanet62 C0399372

Related Diseases for Amelogenesis Imperfecta, Type Iia1

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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 imperfecta30.1C4orf26, KLK4, WDR72, MMP20, AMELX
2dental fluorosis9.8MMP20, AMELX

Symptoms for Amelogenesis Imperfecta, Type Iia1

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Symptoms by clinical synopsis from OMIM:

204700

Clinical features from OMIM:

204700,301200,612529,613211,614832,615887

HPO human phenotypes related to Amelogenesis Imperfecta, Type Iia1:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 amelogenesis imperfecta HP:0000705

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia1

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Drug clinical trials:

Search ClinicalTrials for Amelogenesis Imperfecta, Type Iia1

Search NIH Clinical Center for Amelogenesis Imperfecta, Type Iia1

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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MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Iia1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2SLC24A4, KLK4, MMP20, AMELX

Publications for Amelogenesis Imperfecta, Type Iia1

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Variations for Amelogenesis Imperfecta, Type Iia1

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Expression for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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Expression patterns in normal tissues for genes affiliated with Amelogenesis Imperfecta, Type Iia1

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Iia1.

Pathways for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4KLK4, MMP20

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.9C4orf26, KLK4, MMP20
2proteinaceous extracellular matrixGO:0055788.7MMP20, AMELX

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

idNameGO IDScoreTop Affiliating Genes
1proteolysisGO:0065089.4KLK4, MMP20
2amelogenesisGO:0971868.7SLC24A4, KLK4, MMP20

Products for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Amelogenesis Imperfecta, Type Iia1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet