MCID: AML005
MIFTS: 19

Amelogenesis Imperfecta Hypomaturation Type malady

Rare diseases, Oral diseases categories

Aliases & Classifications for Amelogenesis Imperfecta Hypomaturation Type

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Sources:
42NIH Rare Diseases, 61UMLS, 48Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Amelogenesis Imperfecta Hypomaturation Type:

Name: Amelogenesis Imperfecta Hypomaturation Type 42 61
Hypomaturation Amelogenesis Imperfecta 48
 
Amelogenesis Imperfecta Type 2 48
Aih 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet48 100033
MESH via Orphanet34 C536606
ICD10 via Orphanet26 K00.5
UMLS via Orphanet62 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 and amelogenesis imperfecta, type iia3. An important gene associated with Amelogenesis Imperfecta Hypomaturation Type is WDR72 (WD repeat domain 72), and among its related pathways is Collagen biosynthesis and modifying enzymes. Related mouse phenotype craniofacial.

Related Diseases for Amelogenesis Imperfecta Hypomaturation Type

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Diseases related to Amelogenesis Imperfecta Hypomaturation Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta29.3C4orf26, KLK4, WDR72, MMP20, AMELX
2amelogenesis imperfecta, type iia310.8
3amelogenesis imperfecta, type iia210.7
4amelogenesis imperfecta, type iia110.7
5amelogenesis imperfecta, type iia410.6
6amelogenesis imperfecta, type iia510.5
7autoimmune hepatitis10.3
8hepatitis10.3
9primary biliary cirrhosis10.2
10glomerulonephritis10.0
11ulcerative colitis10.0
12membranous glomerulonephritis10.0
13colitis10.0
14dental fluorosis9.8MMP20, AMELX

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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Drug clinical trials:

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Search 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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.1SLC24A4, KLK4, MMP20, AMELX

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3KLK4, MMP20

Compounds 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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Cellular components related to Amelogenesis Imperfecta Hypomaturation Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.8C4orf26, KLK4, MMP20
2proteinaceous extracellular matrixGO:00055788.7MMP20, AMELX

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

idNameGO IDScoreTop Affiliating Genes
1proteolysisGO:00065089.3KLK4, MMP20
2amelogenesisGO:00971868.6SLC24A4, KLK4, MMP20

Sources for Amelogenesis Imperfecta Hypomaturation Type

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet