MCID: AML005
MIFTS: 21

Amelogenesis Imperfecta Hypomaturation Type malady

Rare diseases, Oral diseases categories

Aliases & Classifications for Amelogenesis Imperfecta Hypomaturation Type

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 100033
UMLS via Orphanet66 C0399372
ICD10 via Orphanet28 K00.5
MESH via Orphanet37 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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Diseases related to Amelogenesis Imperfecta Hypomaturation Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1amelogenesis imperfecta, type iia310.9
2amelogenesis imperfecta, type iia410.8
3amelogenesis imperfecta, type iia210.8
4amelogenesis imperfecta, type iia110.8
5amelogenesis imperfecta, type iia510.6
6amelogenesis imperfecta, type 1e10.5
7amelogenesis imperfecta10.5
8autoimmune hepatitis10.4
9hepatitis10.4
10primary biliary cirrhosis10.2
11obstructive sleep apnea10.2
12respiratory system disease10.2
13sleep apnea10.2
14sleep disorder10.2
15hypertension, essential10.0
16adult syndrome10.0
17peeling skin syndrome 110.0
18autoimmune disease 210.0
19galactosemia10.0
20peeling skin syndrome 210.0
21exfoliation syndrome10.0
22glomerulonephritis10.0
23liver disease10.0
24spinal cord injury10.0
25ulcerative colitis10.0
26sleeping sickness10.0
27hepatitis a10.0
28membranous glomerulonephritis10.0
29hepatitis d10.0
30peeling skin syndrome10.0
31autoimmune disease of gastrointestinal tract10.0
32autonomic nervous system disease10.0
33colitis10.0
34hypersensitivity reaction type ii disease10.0
35spinal cord disease10.0
36hypoxia10.0
37spasticity10.0
38solitary necrotic tumor of the liver9.9MMP20, SLC24A4
39dental pulp disease9.1AMELX, C4orf26, KLK4, MMP20, SLC24A4, WDR72
40amelogenesis imperfecta hypoplastic type, ig9.0AMELX, C4orf26, KLK4, MMP20, SLC24A4, WDR72
41telangiectasis9.0AMELX, C4orf26, KLK4, MMP20, SLC24A4, WDR72
42movement disease9.0AMELX, C4orf26, KLK4, MMP20, SLC24A4, WDR72
43gastrointestinal tuberculosis9.0AMELX, C4orf26, KLK4, MMP20, SLC24A4, WDR72
44anal fistula8.9AMELX, C4orf26, KLK4, MMP20, SLC24A4, WDR72

Graphical network of the top 20 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.1AMELX, KLK4, MMP20, SLC24A4

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

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.0AMELX, MMP20

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

idNameGO IDScoreTop Affiliating Genes
1protein catabolic processGO:00301639.7KLK4, MMP20
2extracellular matrix disassemblyGO:00226179.3KLK4, MMP20
3amelogenesisGO:00971869.3KLK4, MMP20, SLC24A4

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