AI1H
MCID: AML048
MIFTS: 22

Amelogenesis Imperfecta, Type Ih (AI1H)

Categories: Fetal diseases, 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 56 29 6 39 71
Ai1h 56 12 73
Amelogenesis Imperfecta, Type 1h 73
Amelogenesis Imperfecta Type 1h 12
Amelogenesis Imperfecta Type Ih 12
Amelogenesis Imperfecta 1h 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
amelogenesis imperfecta, type ih:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110064
OMIM 56 616221
OMIM Phenotypic Series 56 PS104500
MeSH 43 D000567
ICD10 32 K00.5
UMLS 71 C4015557

Summaries for Amelogenesis Imperfecta, Type Ih

OMIM : 56 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)

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). Affiliated tissues include salivary gland, and 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.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Amelogenesis Imperfecta, Type Ih

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ih

Human phenotypes related to Amelogenesis Imperfecta, Type Ih:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 anterior open bite 31 occasional (7.5%) HP:0200095
2 amelogenesis imperfecta 31 HP:0000705
3 yellow-brown discoloration of the teeth 31 HP:0006286
4 hypoplasia of dental enamel 31 HP:0006297
5 dental enamel pits 31 HP:0009722
6 anterior open-bite malocclusion 31 HP:0009102

Symptoms via clinical synopsis from OMIM:

56
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 29 ITGB6

Anatomical Context for Amelogenesis Imperfecta, Type Ih

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Ih:

40
Salivary Gland

Publications for Amelogenesis Imperfecta, Type Ih

Articles related to Amelogenesis Imperfecta, Type Ih:

# Title Authors PMID Year
1
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. 56 6
24305999 2014
2
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. 56 6
24319098 2014

Variations for Amelogenesis Imperfecta, Type Ih

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ih:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITGB6 NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr)SNV Pathogenic 180683 rs140015315 2:161052046-161052046 2:160195535-160195535
2 ITGB6 NM_000888.5(ITGB6):c.825T>A (p.His275Gln)SNV Pathogenic 180684 rs730882118 2:161029176-161029176 2:160172665-160172665
3 ITGB6 NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter)SNV Pathogenic 180685 rs730880297 2:160982927-160982927 2:160126416-160126416
4 ITGB6 NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)SNV Pathogenic 180686 rs730880298 2:161051887-161051887 2:160195376-160195376

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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