AI3B
MCID: AML056
MIFTS: 16

Amelogenesis Imperfecta, Type Iiib (AI3B)

Categories: Fetal diseases, 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 57 72
Amelogenesis Imperfecta Type 3b 12 29 6
Ai3b 57 72
Amelogenesis Imperfecta 3b 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
amelogenesis imperfecta, type iiib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080243
OMIM® 57 617607
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
SNOMED-CT via HPO 68 263681008 78494001

Summaries for Amelogenesis Imperfecta, Type Iiib

UniProtKB/Swiss-Prot : 72 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 amelogenesis imperfecta type 3b. An important gene associated with Amelogenesis Imperfecta, Type Iiib is AMTN (Amelotin). Related phenotype is amelogenesis imperfecta.

Disease Ontology : 12 An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has material basis in heterozygous mutation in the amelotin gene.

OMIM® : 57 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) (Updated 20-May-2021)

Related Diseases for Amelogenesis Imperfecta, Type Iiib

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iiib

Human phenotypes related to Amelogenesis Imperfecta, Type Iiib:

31
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 31 HP:0000705

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
amelogenesis imperfecta
reduced mineral density of enamel

Clinical features from OMIM®:

617607 (Updated 20-May-2021)

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

Genetic tests related to Amelogenesis Imperfecta, Type Iiib:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta Type 3b 29 AMTN

Anatomical Context for Amelogenesis Imperfecta, Type Iiib

Publications for Amelogenesis Imperfecta, Type Iiib

Articles related to Amelogenesis Imperfecta, Type Iiib:

# Title Authors PMID Year
1
Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. 6 57
27412008 2016

Variations for Amelogenesis Imperfecta, Type Iiib

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iiib:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMTN NM_212557.4(AMTN):c.54+1348_330+98delinsCTCA Indel Pathogenic 431413 GRCh37: 4:71385896-71394573
GRCh38: 4:70520179-70528856

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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