AI3B
MCID: AML056
MIFTS: 16

Amelogenesis Imperfecta, Type Iiib (AI3B)

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Iiib

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iiib:

Name: Amelogenesis Imperfecta, Type Iiib 58 76 6
Ai3b 58 76
Amelogenesis Imperfecta Type 3b 12
Amelogenesis Imperfecta 3b 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
one costa rican family has been described (last curated july 2017)
enamel may wear thin and chip over time


Classifications:



External Ids:

Disease Ontology 12 DOID:0080243
OMIM 58 617607
MeSH 45 D000567
SNOMED-CT via HPO 70 78494001

Summaries for Amelogenesis Imperfecta, Type Iiib

UniProtKB/Swiss-Prot : 76 Amelogenesis imperfecta 3B: An autosomal dominant form of amelogenesis imperfecta, a defect of enamel formation. AI3B is characterized by hypomineralized enamel that has reduced tickness and exhibits structural defects.

MalaCards based summary : Amelogenesis Imperfecta, Type Iiib, is also known as ai3b. An important gene associated with Amelogenesis Imperfecta, Type Iiib is AMTN (Amelotin). Related phenotype is amelogenesis imperfecta.

OMIM : 58 Hypomineralized amelogenesis imperfecta type IIIB is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places (Smith et al., 2016). (617607)

Related Diseases for Amelogenesis Imperfecta, Type Iiib

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iiib

Human phenotypes related to Amelogenesis Imperfecta, Type Iiib:

33
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 33 HP:0000705

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
amelogenesis imperfecta
reduced mineral density of enamel

Clinical features from OMIM:

617607

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iiib

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

Genetic Tests for Amelogenesis Imperfecta, Type Iiib

Anatomical Context for Amelogenesis Imperfecta, Type Iiib

Publications for Amelogenesis Imperfecta, Type Iiib

Articles related to Amelogenesis Imperfecta, Type Iiib:

# Title Authors Year
1
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. ( 27412008 )
2016

Variations for Amelogenesis Imperfecta, Type Iiib

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iiib:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AMTN AMTN, 8,678-BP DEL/4-BP INS indel Pathogenic

Expression for Amelogenesis Imperfecta, Type Iiib

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

Pathways for Amelogenesis Imperfecta, Type Iiib

GO Terms for Amelogenesis Imperfecta, Type Iiib

Sources for Amelogenesis Imperfecta, Type Iiib

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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