AIH
MCID: AML005
MIFTS: 19

Amelogenesis Imperfecta Hypomaturation Type (AIH) malady

Categories: Rare diseases, Oral diseases, Genetic diseases

Aliases & Classifications for Amelogenesis Imperfecta Hypomaturation Type

Aliases & Descriptions for Amelogenesis Imperfecta Hypomaturation Type:

Name: Amelogenesis Imperfecta Hypomaturation Type 50 69
Hypomaturation Amelogenesis Imperfecta 56
Amelogenesis Imperfecta Type 2 56
Aih 50

Characteristics:

Orphanet epidemiological data:

56
hypomaturation amelogenesis imperfecta
Inheritance: Autosomal recessive,X-linked dominant;

Classifications:

Orphanet: 56  
Rare odontological diseases


External Ids:

Orphanet 56 ORPHA100033
UMLS via Orphanet 70 C0399372
ICD10 via Orphanet 34 K00.5
MESH via Orphanet 43 C536606

Summaries for Amelogenesis Imperfecta Hypomaturation Type

MalaCards based summary : Amelogenesis Imperfecta Hypomaturation Type, also known as hypomaturation amelogenesis imperfecta, is related to amelogenesis imperfecta, hypomaturation type, 2a6 and amelogenesis imperfecta, type iia3. An important gene associated with Amelogenesis Imperfecta Hypomaturation Type is WDR72 (WD Repeat Domain 72). Related phenotype is craniofacial.

Related Diseases for Amelogenesis Imperfecta Hypomaturation Type

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta Hypomaturation Type:



Diseases related to Amelogenesis Imperfecta Hypomaturation Type

Symptoms & Phenotypes for Amelogenesis Imperfecta Hypomaturation Type

MGI Mouse Phenotypes related to Amelogenesis Imperfecta Hypomaturation Type:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 KLK4 MMP20 SLC24A4 WDR72

Drugs & Therapeutics for Amelogenesis Imperfecta Hypomaturation Type

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta Hypomaturation Type

Genetic Tests for Amelogenesis Imperfecta Hypomaturation Type

Anatomical Context for Amelogenesis Imperfecta Hypomaturation Type

Publications for Amelogenesis Imperfecta Hypomaturation Type

Articles related to Amelogenesis Imperfecta Hypomaturation Type:

id Title Authors Year
1
A clinical, genetic, and ultrastructural study of snow-capped teeth: amelogenesis imperfecta, hypomaturation type. ( 6947186 )
1981

Variations for Amelogenesis Imperfecta Hypomaturation Type

Expression for Amelogenesis Imperfecta Hypomaturation Type

Search GEO for disease gene expression data for Amelogenesis Imperfecta Hypomaturation Type.

Pathways for Amelogenesis Imperfecta Hypomaturation Type

GO Terms for Amelogenesis Imperfecta Hypomaturation Type

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix disassembly GO:0022617 9.32 KLK4 MMP20
2 protein catabolic process GO:0030163 9.26 KLK4 MMP20
3 enamel mineralization GO:0070166 9.16 AMELX WDR72
4 biomineral tissue development GO:0031214 9.13 AMELX KLK4 WDR72
5 amelogenesis GO:0097186 8.8 KLK4 MMP20 SLC24A4

Sources for Amelogenesis Imperfecta Hypomaturation Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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