AI1H
MCID: AML048
MIFTS: 20

Amelogenesis Imperfecta, Type Ih (AI1H)

Categories: Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Ih

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ih:

Name: Amelogenesis Imperfecta, Type Ih 58 30 6 41 74
Ai1h 58 12 76
Amelogenesis Imperfecta, Type 1h 76
Amelogenesis Imperfecta Type 1h 12
Amelogenesis Imperfecta Type Ih 12
Amelogenesis Imperfecta 1h 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amelogenesis imperfecta, type ih:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110064
OMIM 58 616221
MeSH 45 D000567
ICD10 34 K00.5
UMLS 74 C4015557

Summaries for Amelogenesis Imperfecta, Type Ih

UniProtKB/Swiss-Prot : 76 Amelogenesis imperfecta 1H: A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored.

MalaCards based summary : Amelogenesis Imperfecta, Type Ih, is also known as ai1h, and has symptoms including toothache An important gene associated with Amelogenesis Imperfecta, Type Ih is ITGB6 (Integrin Subunit Beta 6). Related phenotypes are anterior open bite and amelogenesis imperfecta

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.

OMIM : 58 Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored (Wang et al., 2014 and Poulter et al., 2014). (616221)

Related Diseases for Amelogenesis Imperfecta, Type Ih

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ih

Human phenotypes related to Amelogenesis Imperfecta, Type Ih:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 anterior open bite 33 occasional (7.5%) HP:0200095
2 amelogenesis imperfecta 33 HP:0000705
3 dental enamel pits 33 HP:0009722
4 yellow-brown discoloration of the teeth 33 HP:0006286
5 hypoplasia of dental enamel 33 HP:0006297
6 anterior open-bite malocclusion 33 HP:0009102

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
amelogenesis imperfecta
pitted enamel
hypomineralized enamel
rough tooth surface
thin enamel (in most patients)
more

Clinical features from OMIM:

616221

UMLS symptoms related to Amelogenesis Imperfecta, Type Ih:


toothache

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ih

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

Genetic Tests for Amelogenesis Imperfecta, Type Ih

Genetic tests related to Amelogenesis Imperfecta, Type Ih:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type Ih 30 ITGB6

Anatomical Context for Amelogenesis Imperfecta, Type Ih

Publications for Amelogenesis Imperfecta, Type Ih

Variations for Amelogenesis Imperfecta, Type Ih

UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Type Ih:

76
# Symbol AA change Variation ID SNP ID
1 ITGB6 p.Ala143Thr VAR_073328 rs140015315
2 ITGB6 p.Pro196Thr VAR_073329 rs730880298
3 ITGB6 p.His275Gln VAR_073330 rs730882118

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ih:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGB6 NM_000888.4(ITGB6): c.427G> A (p.Ala143Thr) single nucleotide variant Pathogenic rs140015315 GRCh38 Chromosome 2, 160195535: 160195535
2 ITGB6 NM_000888.4(ITGB6): c.427G> A (p.Ala143Thr) single nucleotide variant Pathogenic rs140015315 GRCh37 Chromosome 2, 161052046: 161052046
3 ITGB6 NM_000888.4(ITGB6): c.825T> A (p.His275Gln) single nucleotide variant Pathogenic rs730882118 GRCh37 Chromosome 2, 161029176: 161029176
4 ITGB6 NM_000888.4(ITGB6): c.825T> A (p.His275Gln) single nucleotide variant Pathogenic rs730882118 GRCh38 Chromosome 2, 160172665: 160172665
5 ITGB6 NM_000888.4(ITGB6): c.1846C> T (p.Arg616Ter) single nucleotide variant Pathogenic rs730880297 GRCh37 Chromosome 2, 160982927: 160982927
6 ITGB6 NM_000888.4(ITGB6): c.1846C> T (p.Arg616Ter) single nucleotide variant Pathogenic rs730880297 GRCh38 Chromosome 2, 160126416: 160126416
7 ITGB6 NM_000888.5(ITGB6): c.586C> A (p.Pro196Thr) single nucleotide variant Pathogenic rs730880298 GRCh37 Chromosome 2, 161051887: 161051887
8 ITGB6 NM_000888.5(ITGB6): c.586C> A (p.Pro196Thr) single nucleotide variant Pathogenic rs730880298 GRCh38 Chromosome 2, 160195376: 160195376

Expression for Amelogenesis Imperfecta, Type Ih

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Ih.

Pathways for Amelogenesis Imperfecta, Type Ih

GO Terms for Amelogenesis Imperfecta, Type Ih

Sources for Amelogenesis Imperfecta, Type Ih

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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