AI1B
MCID: AML017
MIFTS: 34

Amelogenesis Imperfecta, Type Ib (AI1B)

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Ib

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ib:

Name: Amelogenesis Imperfecta, Type Ib 57 13 40 73
Ai1b 57 12 75
Aih2 57 12 75
Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local 29 6
Hereditary Localized Enamel Hypoplasia 12 75
Amelogenesis Imperfecta Type 1b 12 15
Amelogenesis Imperfecta Type Ib 12 75
Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant 57
Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta 12
Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant 75
Enamel Hypoplasia, Hereditary Localized 57
Amelogenesis Imperfecta Hypoplastic 2 75
Amelogenesis Imperfecta 1b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
amelogenesis imperfecta, type ib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 104500
Disease Ontology 12 DOID:0110052
ICD10 33 K00.5
MedGen 42 C0399368
MeSH 44 D000567
SNOMED-CT via HPO 69 263681008 78494001
UMLS 73 C0399368

Summaries for Amelogenesis Imperfecta, Type Ib

UniProtKB/Swiss-Prot : 75 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), and among its related pathways/superpathways are Acetaminophen Pathway (therapeutic doses), Pharmacokinetics and Imipramine/Desipramine Pathway, Pharmacokinetics. The drug Immunosuppressive Agents has 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Amelogenesis Imperfecta, Type Ib:

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

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

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 29 ENAM

Anatomical Context for Amelogenesis Imperfecta, Type Ib

Publications for Amelogenesis Imperfecta, Type Ib

Variations for Amelogenesis Imperfecta, Type Ib

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

75
# 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.534+1G> A single nucleotide variant Pathogenic rs587776587 GRCh37 Chromosome 4, 71501612: 71501612
2 ENAM NM_031889.2(ENAM): c.534+1G> A single nucleotide variant Pathogenic rs587776587 GRCh38 Chromosome 4, 70635895: 70635895
3 ENAM NM_031889.2(ENAM): c.157A> T (p.Lys53Ter) single nucleotide variant Pathogenic rs121908109 GRCh37 Chromosome 4, 71497599: 71497599
4 ENAM NM_031889.2(ENAM): c.157A> T (p.Lys53Ter) single nucleotide variant Pathogenic rs121908109 GRCh38 Chromosome 4, 70631882: 70631882
5 ENAM NM_031889.2(ENAM): c.1259_1260insAG (p.Pro422Valfs) insertion Pathogenic/Likely pathogenic rs587776588 GRCh38 Chromosome 4, 70642685: 70642686
6 ENAM NM_031889.2(ENAM): c.1259_1260insAG (p.Pro422Valfs) insertion Pathogenic/Likely pathogenic rs587776588 GRCh37 Chromosome 4, 71508402: 71508403
7 ENAM NM_031889.2(ENAM): c.92T> G (p.Leu31Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1060499539 GRCh37 Chromosome 4, 71497424: 71497424
8 ENAM NM_031889.2(ENAM): c.92T> G (p.Leu31Arg) single nucleotide variant Pathogenic/Likely pathogenic rs1060499539 GRCh38 Chromosome 4, 70631707: 70631707
9 ENAM NM_031889.2(ENAM): c.123+2T> G single nucleotide variant Pathogenic GRCh38 Chromosome 4, 70631740: 70631740
10 ENAM NM_031889.2(ENAM): c.123+2T> G single nucleotide variant Pathogenic GRCh37 Chromosome 4, 71497457: 71497457

Expression for Amelogenesis Imperfecta, Type Ib

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

Pathways for Amelogenesis Imperfecta, Type Ib

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.27 CYP1A2 CYP2D6
2
Show member pathways
11.22 CYP1A2 CYP2D6
3
Show member pathways
11.05 CYP1A2 CYP2D6
4
Show member pathways
10.94 CYP1A2 CYP2D6
5
Show member pathways
10.7 CYP1A2 CYP2D6
6 10.19 CYP1A2 CYP2D6

GO Terms for Amelogenesis Imperfecta, Type Ib

Cellular components related to Amelogenesis Imperfecta, Type Ib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 organelle membrane GO:0031090 8.62 CYP1A2 CYP2D6

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.49 CYP1A2 CYP2D6
2 xenobiotic metabolic process GO:0006805 9.48 CYP1A2 CYP2D6
3 odontogenesis of dentin-containing tooth GO:0042475 9.46 AMBN ENAM
4 biomineral tissue development GO:0031214 9.43 AMBN ENAM
5 drug metabolic process GO:0017144 9.4 CYP1A2 CYP2D6
6 exogenous drug catabolic process GO:0042738 9.37 CYP1A2 CYP2D6
7 oxidative demethylation GO:0070989 9.32 CYP1A2 CYP2D6
8 heterocycle metabolic process GO:0046483 9.26 CYP1A2 CYP2D6
9 drug catabolic process GO:0042737 9.16 CYP1A2 CYP2D6
10 monoterpenoid metabolic process GO:0016098 8.96 CYP1A2 CYP2D6
11 alkaloid metabolic process GO:0009820 8.62 CYP1A2 CYP2D6

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.37 CYP1A2 CYP2D6
2 monooxygenase activity GO:0004497 9.32 CYP1A2 CYP2D6
3 oxygen binding GO:0019825 9.26 CYP1A2 CYP2D6
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen GO:0016712 9.16 CYP1A2 CYP2D6
5 aromatase activity GO:0070330 8.96 CYP1A2 CYP2D6
6 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 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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