AI1B
MCID: AML017
MIFTS: 31

Amelogenesis Imperfecta, Type Ib (AI1B)

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Ib

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ib:

Name: Amelogenesis Imperfecta, Type Ib 58 13 41 74
Ai1b 58 12 76
Aih2 58 12 76
Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local 30 6
Hereditary Localized Enamel Hypoplasia 12 76
Amelogenesis Imperfecta Type 1b 12 15
Amelogenesis Imperfecta Type Ib 12 76
Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant 58
Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta 12
Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant 76
Enamel Hypoplasia, Hereditary Localized 58
Amelogenesis Imperfecta Hypoplastic 2 76
Amelogenesis Imperfecta 1b 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
amelogenesis imperfecta, type ib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110052
OMIM 58 104500
MeSH 45 D000567
ICD10 34 K00.5
MedGen 43 C0399368
SNOMED-CT via HPO 70 263681008 78494001
UMLS 74 C0399368

Summaries for Amelogenesis Imperfecta, Type Ib

UniProtKB/Swiss-Prot : 76 Amelogenesis imperfecta 1B: An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI).

MalaCards based summary : Amelogenesis Imperfecta, Type Ib, also known as ai1b, is related to amelogenesis imperfecta and amelogenesis imperfecta, type iiia. An important gene associated with Amelogenesis Imperfecta, Type Ib is ENAM (Enamelin). The drugs Immunosuppressive Agents and Immunologic Factors have been mentioned in the context of this disorder. Related phenotype is amelogenesis imperfecta.

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13.

Description from OMIM: 104500

Related Diseases for Amelogenesis Imperfecta, Type Ib

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta, Type Ib:



Diseases related to Amelogenesis Imperfecta, Type Ib

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ib

Human phenotypes related to Amelogenesis Imperfecta, Type Ib:

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, hypoplastic
enamel has horizontal row of pits or linear depressions
incisal edge or occlusal surface not usually involved

Clinical features from OMIM:

104500

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ib

Drugs for Amelogenesis Imperfecta, Type Ib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunosuppressive Agents Not Applicable
2 Immunologic Factors Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Plasma Exchange Combination of Immunosuppressive Regimens for Auto-immune Hepatitis Recruiting NCT02874586 Not Applicable

Search NIH Clinical Center for Amelogenesis Imperfecta, Type Ib

Genetic Tests for Amelogenesis Imperfecta, Type Ib

Genetic tests related to Amelogenesis Imperfecta, Type Ib:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local 30 ENAM

Anatomical Context for Amelogenesis Imperfecta, Type Ib

Publications for Amelogenesis Imperfecta, Type Ib

Articles related to Amelogenesis Imperfecta, Type Ib:

# Title Authors Year
1
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. ( 28334996 )
2017
2
Molecular characterization of amelogenesis imperfecta in Chinese patients. ( 22414746 )
2012
3
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. ( 17125728 )
2007
4
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. ( 14684688 )
2003
5
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). ( 11978766 )
2002
6
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. ( 11487571 )
2001

Variations for Amelogenesis Imperfecta, Type Ib

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

76
# Symbol AA change Variation ID SNP ID
1 ENAM p.Ser216Leu VAR_073665 rs867263935

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ib:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ENAM NM_031889.2(ENAM): c.123+2T> G single nucleotide variant Pathogenic rs1553887511 GRCh38 Chromosome 4, 70631740: 70631740
2 ENAM NM_031889.2(ENAM): c.123+2T> G single nucleotide variant Pathogenic rs1553887511 GRCh37 Chromosome 4, 71497457: 71497457
3 ENAM NM_031889.2(ENAM): c.92T> G (p.Leu31Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1060499539 GRCh38 Chromosome 4, 70631707: 70631707
4 ENAM NM_031889.2(ENAM): c.92T> G (p.Leu31Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1060499539 GRCh37 Chromosome 4, 71497424: 71497424
5 ENAM NM_031889.2(ENAM): c.1259_1260insAG (p.Pro422Valfs) insertion Pathogenic/Likely pathogenic rs587776588 GRCh37 Chromosome 4, 71508402: 71508403
6 ENAM NM_031889.2(ENAM): c.1259_1260insAG (p.Pro422Valfs) insertion Pathogenic/Likely pathogenic rs587776588 GRCh38 Chromosome 4, 70642685: 70642686
7 ENAM NM_031889.2(ENAM): c.157A> T (p.Lys53Ter) single nucleotide variant Pathogenic rs121908109 GRCh38 Chromosome 4, 70631882: 70631882
8 ENAM NM_031889.2(ENAM): c.157A> T (p.Lys53Ter) single nucleotide variant Pathogenic rs121908109 GRCh37 Chromosome 4, 71497599: 71497599
9 ENAM NM_031889.2(ENAM): c.534+1G> A single nucleotide variant Pathogenic rs587776587 GRCh38 Chromosome 4, 70635895: 70635895
10 ENAM NM_031889.2(ENAM): c.534+1G> A single nucleotide variant Pathogenic rs587776587 GRCh37 Chromosome 4, 71501612: 71501612

Expression for Amelogenesis Imperfecta, Type Ib

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

Pathways for Amelogenesis Imperfecta, Type Ib

GO Terms for Amelogenesis Imperfecta, Type Ib

Biological processes related to Amelogenesis Imperfecta, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 odontogenesis of dentin-containing tooth GO:0042475 8.96 AMBN ENAM
2 biomineral tissue development GO:0031214 8.62 AMBN ENAM

Molecular functions related to Amelogenesis Imperfecta, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of tooth enamel GO:0030345 8.62 AMBN ENAM

Sources for Amelogenesis Imperfecta, Type Ib

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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