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:
30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Amelogenesis Imperfecta Hypomaturation Type:

Name: Amelogenesis Imperfecta Hypomaturation Type 47 67
Hypomaturation Amelogenesis Imperfecta 53
 
Amelogenesis Imperfecta Type 2 53
Aih 47

Characteristics:

Orphanet epidemiological data:

53
hypomaturation amelogenesis imperfecta:
Inheritance: Autosomal recessive,X-linked dominant

Classifications:



External Ids:

Orphanet53 ORPHA100033
UMLS via Orphanet68 C0399372
ICD10 via Orphanet30 K00.5
MESH via Orphanet39 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 for Amelogenesis Imperfecta Hypomaturation Type

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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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Animal Models for Amelogenesis Imperfecta Hypomaturation Type or affiliated genes

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MGI Mouse Phenotypes related to Amelogenesis Imperfecta Hypomaturation Type:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6KLK4, MMP20, SLC24A4, WDR72

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:00701669.9AMELX, WDR72
2protein catabolic processGO:00301639.5KLK4, MMP20
3biomineral tissue developmentGO:00312149.5AMELX, KLK4
4extracellular matrix disassemblyGO:00226179.3KLK4, MMP20
5amelogenesisGO:00971869.2KLK4, MMP20, SLC24A4

Sources for Amelogenesis Imperfecta Hypomaturation Type

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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