AI1H
MCID: AML048
MIFTS: 22

Amelogenesis Imperfecta, Type Ih (AI1H)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Amelogenesis Imperfecta, Type Ih

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ih:

Name: Amelogenesis Imperfecta, Type Ih 57 38 71
Amelogenesis Imperfecta Type 1h 11 28 5
Ai1h 57 11 73
Amelogenesis Imperfecta, Type 1h 73
Amelogenesis Imperfecta Type Ih 11
Amelogenesis Imperfecta 1h 73

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0110064
OMIM® 57 616221
OMIM Phenotypic Series 57 PS104500
MeSH 43 D000567
ICD10 31 K00.5
UMLS 71 C4015557

Summaries for Amelogenesis Imperfecta, Type Ih

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) (Updated 24-Oct-2022)

MalaCards based summary: Amelogenesis Imperfecta, Type Ih, is also known as amelogenesis imperfecta type 1h, 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 malocclusion and yellow-brown discoloration of the teeth

UniProtKB/Swiss-Prot: 73 A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored.

Disease Ontology: 11 An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24.

Related Diseases for Amelogenesis Imperfecta, Type Ih

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ih

Human phenotypes related to Amelogenesis Imperfecta, Type Ih:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anterior open-bite malocclusion 30 Occasional (7.5%) HP:0009102
2 yellow-brown discoloration of the teeth 30 HP:0006286
3 amelogenesis imperfecta 30 HP:0000705
4 dental enamel pits 30 HP:0009722
5 enamel hypoplasia 30 HP:0006297

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Teeth:
amelogenesis imperfecta
pitted enamel
hypomineralized enamel
rough tooth surface
thin enamel (in most patients)
more

Clinical features from OMIM®:

616221 (Updated 24-Oct-2022)

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 1h 28 ITGB6

Anatomical Context for Amelogenesis Imperfecta, Type Ih

Publications for Amelogenesis Imperfecta, Type Ih

Articles related to Amelogenesis Imperfecta, Type Ih:

# Title Authors PMID Year
1
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. 57 5
24319098 2014
2
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. 57 5
24305999 2014

Variations for Amelogenesis Imperfecta, Type Ih

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ih:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGB6 NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr) SNV Pathogenic
180683 rs140015315 GRCh37: 2:161052046-161052046
GRCh38: 2:160195535-160195535
2 ITGB6 NM_000888.5(ITGB6):c.825T>A (p.His275Gln) SNV Pathogenic
180684 rs730882118 GRCh37: 2:161029176-161029176
GRCh38: 2:160172665-160172665
3 ITGB6 NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter) SNV Pathogenic
180685 rs730880297 GRCh37: 2:160982927-160982927
GRCh38: 2:160126416-160126416
4 ITGB6 NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr) SNV Pathogenic
180686 rs730880298 GRCh37: 2:161051887-161051887
GRCh38: 2:160195376-160195376
5 ITGB6 NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter) SNV Pathogenic
1333182 GRCh37: 2:161030619-161030619
GRCh38: 2:160174108-160174108
6 ITGB6 NM_000888.5(ITGB6):c.1661-3C>G SNV Likely Pathogenic
1333183 GRCh37: 2:160983115-160983115
GRCh38: 2:160126604-160126604
7 ITGB6 NM_000888.5(ITGB6):c.2269-5del DEL Benign
218475 rs5835793 GRCh37: 2:160958350-160958350
GRCh38: 2:160101839-160101839

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

73
# 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

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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