MCID: AML005
MIFTS: 19

Amelogenesis Imperfecta Hypomaturation Type malady

Categories: Rare diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta Hypomaturation Type

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Sources:
46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Amelogenesis Imperfecta Hypomaturation Type:

Name: Amelogenesis Imperfecta Hypomaturation Type 46 66
Hypomaturation Amelogenesis Imperfecta 52
 
Amelogenesis Imperfecta Type 2 52
Aih 46

Characteristics:

Orphanet epidemiological data:

52
hypomaturation amelogenesis imperfecta:
Inheritance: Autosomal recessive,X-linked dominant

Classifications:



External Ids:

Orphanet52 ORPHA100033
ICD10 via Orphanet29 K00.5
MESH via Orphanet38 C536606
UMLS via Orphanet67 C0399372

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5KLK4, 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:00701669.5AMELX, WDR72
2protein catabolic processGO:00301639.5KLK4, MMP20
3biomineral tissue developmentGO:00312149.1AMELX, KLK4
4extracellular matrix disassemblyGO:00226179.0KLK4, MMP20
5amelogenesisGO:00971868.9KLK4, MMP20, SLC24A4

Molecular functions related to Amelogenesis Imperfecta Hypomaturation Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.3KLK4, MMP20

Sources for Amelogenesis Imperfecta Hypomaturation Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet