MCID: AML005
MIFTS: 21

Amelogenesis Imperfecta Hypomaturation Type malady

Categories: Rare diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta Hypomaturation Type

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Sources:
45NIH Rare Diseases, 65UMLS, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Amelogenesis Imperfecta Hypomaturation Type:

Name: Amelogenesis Imperfecta Hypomaturation Type 45 65
Hypomaturation Amelogenesis Imperfecta 51
 
Amelogenesis Imperfecta Type 2 51
Aih 45

Characteristics:

Orphanet epidemiological data:

51
hypomaturation amelogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive

Classifications:



External Ids:

Orphanet51 100033
ICD10 via Orphanet28 K00.5
MESH via Orphanet37 C536606
UMLS via Orphanet66 C0399372
UMLS65 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). Affiliated tissues include thyroid and liver, and 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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MalaCards organs/tissues related to Amelogenesis Imperfecta Hypomaturation Type:

33
Thyroid, Liver

Animal Models for Amelogenesis Imperfecta Hypomaturation Type or affiliated genes

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MGI Mouse Phenotypes related to Amelogenesis Imperfecta Hypomaturation Type:

38
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
1amelogenesisGO:00971869.6KLK4, MMP20
2biomineral tissue developmentGO:00312149.1AMELX, KLK4

Sources for Amelogenesis Imperfecta Hypomaturation Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet