MCID: AML005
MIFTS: 18

Amelogenesis Imperfecta Hypomaturation Type malady

Categories: Rare diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta Hypomaturation Type

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Sources:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Amelogenesis Imperfecta Hypomaturation Type:

Name: Amelogenesis Imperfecta Hypomaturation Type 48 68
Hypomaturation Amelogenesis Imperfecta 54
 
Amelogenesis Imperfecta Type 2 54
Aih 48

Characteristics:

Orphanet epidemiological data:

54
hypomaturation amelogenesis imperfecta:
Inheritance: Autosomal recessive,X-linked dominant

Classifications:



External Ids:

Orphanet54 ORPHA100033
UMLS via Orphanet69 C0399372
ICD10 via Orphanet31 K00.5
MESH via Orphanet40 C536606

Summaries for Amelogenesis Imperfecta Hypomaturation Type

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MalaCards based summary: Amelogenesis Imperfecta Hypomaturation Type, also known as hypomaturation amelogenesis imperfecta, is related to amelogenesis imperfecta, type iia3 and amelogenesis imperfecta, type iia4. An important gene associated with Amelogenesis Imperfecta Hypomaturation Type is WDR72 (WD Repeat Domain 72). Related mouse phenotype craniofacial.

Related Diseases for Amelogenesis Imperfecta Hypomaturation Type

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Graphical network of diseases related to Amelogenesis Imperfecta Hypomaturation Type:



Diseases related to amelogenesis imperfecta hypomaturation type

Symptoms & Phenotypes for Amelogenesis Imperfecta Hypomaturation Type

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MGI Mouse Phenotypes related to Amelogenesis Imperfecta Hypomaturation Type according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6KLK4, MMP20, SLC24A4, WDR72

Drugs & Therapeutics for Amelogenesis Imperfecta Hypomaturation Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Amelogenesis Imperfecta Hypomaturation Type

Genetic Tests for Amelogenesis Imperfecta Hypomaturation Type

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Anatomical Context for Amelogenesis Imperfecta Hypomaturation Type

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Publications for Amelogenesis Imperfecta Hypomaturation Type

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Articles related to Amelogenesis Imperfecta Hypomaturation Type:

idTitleAuthorsYear
1
A clinical, genetic, and ultrastructural study of snow-capped teeth: amelogenesis imperfecta, hypomaturation type. (6947186)
1981

Variations for Amelogenesis Imperfecta Hypomaturation Type

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Expression for genes affiliated with Amelogenesis Imperfecta Hypomaturation Type

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Search GEO for disease gene expression data for Amelogenesis Imperfecta Hypomaturation Type.

Pathways for genes affiliated with Amelogenesis Imperfecta Hypomaturation Type

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GO Terms for genes affiliated with Amelogenesis Imperfecta Hypomaturation Type

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Biological processes related to Amelogenesis Imperfecta Hypomaturation Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1enamel mineralizationGO:007016610.1AMELX, WDR72
2biomineral tissue developmentGO:003121410.0AMELX, KLK4
3extracellular matrix disassemblyGO:00226179.8KLK4, MMP20
4amelogenesisGO:00971869.6KLK4, MMP20, SLC24A4
5protein catabolic processGO:00301639.4KLK4, MMP20

Sources for Amelogenesis Imperfecta Hypomaturation Type

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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