MCID: AML005
MIFTS: 20

Amelogenesis Imperfecta Hypomaturation Type

Categories: Rare diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta Hypomaturation Type

MalaCards integrated aliases for Amelogenesis Imperfecta Hypomaturation Type:

Name: Amelogenesis Imperfecta Hypomaturation Type 49 69
Hypomaturation Amelogenesis Imperfecta 55
Amelogenesis Imperfecta Type 2 55
Aih 49

Characteristics:

Orphanet epidemiological data:

55
hypomaturation amelogenesis imperfecta
Inheritance: Autosomal recessive,X-linked dominant;

Classifications:

Orphanet: 55  
Rare odontological diseases


External Ids:

Orphanet 55 ORPHA100033
MESH via Orphanet 42 C536606
UMLS via Orphanet 70 C0399372
ICD10 via Orphanet 33 K00.5
UMLS 69 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 and amelogenesis imperfecta, hypomaturation 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 MMP20 SLC24A4 WDR72 KLK4

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
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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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