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 75 6
Ai3b 57 75
Amelogenesis Imperfecta Type 3b 12
Amelogenesis Imperfecta 3b 75

Characteristics:

OMIM:

57
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:

OMIM 57 617607
Disease Ontology 12 DOID:0080243
MeSH 44 D000567
SNOMED-CT via HPO 69 78494001

Summaries for Amelogenesis Imperfecta, Type Iiib

UniProtKB/Swiss-Prot : 75 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 : 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)

Related Diseases for Amelogenesis Imperfecta, Type Iiib

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iiib

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
amelogenesis imperfecta
reduced mineral density of enamel


Clinical features from OMIM:

617607

Human phenotypes related to Amelogenesis Imperfecta, Type Iiib:

32
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 32 HP:0000705

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

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 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
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