MCID: AML048
MIFTS: 20

Amelogenesis Imperfecta, Type Ih

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Ih

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ih:

Name: Amelogenesis Imperfecta, Type Ih 57 29 6 40 73
Ai1h 57 12 75
Amelogenesis Imperfecta, Type 1h 75
Amelogenesis Imperfecta Type 1h 12
Amelogenesis Imperfecta Type Ih 12
Amelogenesis Imperfecta 1h 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
amelogenesis imperfecta, type ih:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616221
Disease Ontology 12 DOID:0110064
ICD10 33 K00.5
MeSH 44 D000567
UMLS 73 C4015557

Summaries for Amelogenesis Imperfecta, Type Ih

UniProtKB/Swiss-Prot : 75 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 amelogenesis imperfecta and yellow-brown discoloration of the teeth

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 : 57 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
amelogenesis imperfecta
thin enamel (in most patients)
loss of enamel after tooth eruption
hypomineralized enamel
rough tooth surface
more

Clinical features from OMIM:

616221

Human phenotypes related to Amelogenesis Imperfecta, Type Ih:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 32 HP:0000705
2 yellow-brown discoloration of the teeth 32 HP:0006286
3 hypoplasia of dental enamel 32 HP:0006297
4 anterior open-bite malocclusion 32 HP:0009102
5 dental enamel pits 32 HP:0009722
6 anterior open bite 32 occasional (7.5%) HP:0200095

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 29 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:

75
# 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 GRCh37 Chromosome 2, 161052046: 161052046
2 ITGB6 NM_000888.4(ITGB6): c.427G> A (p.Ala143Thr) single nucleotide variant Pathogenic rs140015315 GRCh38 Chromosome 2, 160195535: 160195535
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_000888.4(ITGB6): c.586C> A (p.Pro196Thr) single nucleotide variant Pathogenic rs730880298 GRCh37 Chromosome 2, 161051887: 161051887
8 ITGB6 NM_000888.4(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 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
Content
Loading form....