AIH
MCID: AML005
MIFTS: 23

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 53 73
Hypomaturation Amelogenesis Imperfecta 59
Amelogenesis Imperfecta Type 2 59
Aih 53

Characteristics:

Orphanet epidemiological data:

59
hypomaturation amelogenesis imperfecta
Inheritance: Autosomal recessive,X-linked dominant;

Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

Orphanet 59 ORPHA100033
UMLS via Orphanet 74 C0399372
ICD10 via Orphanet 34 K00.5
MESH via Orphanet 45 C536606
UMLS 73 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). Affiliated tissues include liver, and 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:

46
# 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

MalaCards organs/tissues related to Amelogenesis Imperfecta Hypomaturation Type:

41
Liver

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
Enamel ultrastructure in pigmented hypomaturation amelogenesis imperfecta. ( 1432732 )
1992
3
A clinical, genetic, and ultrastructural study of snow-capped teeth: amelogenesis imperfecta, hypomaturation type. ( 6947186 )
1981
4
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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