AIH
MCID: AML005
MIFTS: 22

Amelogenesis Imperfecta Hypomaturation Type (AIH)

Categories: Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta Hypomaturation Type

MalaCards integrated aliases for Amelogenesis Imperfecta Hypomaturation Type:

Name: Amelogenesis Imperfecta Hypomaturation Type 54 74
Hypomaturation Amelogenesis Imperfecta 60
Amelogenesis Imperfecta Type 2 60
Aih 54

Characteristics:

Orphanet epidemiological data:

60
hypomaturation amelogenesis imperfecta
Inheritance: Autosomal recessive,X-linked dominant;

Classifications:

Orphanet: 60  
Rare odontological diseases


External Ids:

MESH via Orphanet 46 C536606
ICD10 via Orphanet 35 K00.5
UMLS via Orphanet 75 C0399372
Orphanet 60 ORPHA100033
UMLS 74 C0399372

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, iia2 and amelogenesis imperfecta. 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:

47
# 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:

# Title Authors Year
1
Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta. ( 24532815 )
2014
2
A clinical, genetic, and ultrastructural study of snow-capped teeth: amelogenesis imperfecta, hypomaturation type. ( 6947186 )
1981
3
Hypoplastic-hypomaturation amelogenesis imperfecta with taurodontism: report of case. ( 1100695 )
1975

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:

# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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