AI1B
MCID: AML017
MIFTS: 34

Amelogenesis Imperfecta, Type Ib (AI1B)

Categories: Fetal diseases, 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 57 13 39 70
Ai1b 57 12 72
Aih2 57 12 72
Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local 29 6
Hereditary Localized Enamel Hypoplasia 12 72
Amelogenesis Imperfecta Type 1b 12 15
Amelogenesis Imperfecta Type Ib 12 72
Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant 57
Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta 12
Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant 72
Enamel Hypoplasia, Hereditary Localized 57
Amelogenesis Imperfecta Hypoplastic 2 72
Amelogenesis Imperfecta 1b 72

Characteristics:

OMIM®:

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


HPO:

31
amelogenesis imperfecta, type ib:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110052
OMIM® 57 104500
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
ICD10 32 K00.5
MedGen 41 C0399368
SNOMED-CT via HPO 68 263681008 78494001
UMLS 70 C0399368

Summaries for Amelogenesis Imperfecta, Type Ib

UniProtKB/Swiss-Prot : 72 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 hypoplastic amelogenesis imperfecta and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type Ib is ENAM (Enamelin). Affiliated tissues include liver, bone and skin, and 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.

More information from OMIM: 104500 PS104500

Related Diseases for Amelogenesis Imperfecta, Type Ib

Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Iv
Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Iiia
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type Ie Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ij
Amelogenesis Imperfecta, Type Iiib Amelogenesis Imperfecta, Type Iiic
Amelogenesis Imperfecta Type 2a1

Diseases related to Amelogenesis Imperfecta, Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 hypoplastic amelogenesis imperfecta 30.1 ENAM AMBN
2 amelogenesis imperfecta 28.7 SEPSECS ENAM DNAL1 CYP2D6 AMTN AMELX
3 amelogenesis imperfecta, type ic 9.9 ENAM AMELX
4 amelogenesis imperfecta local hypoplastic 9.9
5 dental pulp calcification 9.9 ENAM AMELX
6 papillary craniopharyngioma 9.9 ENAM AMELX
7 type 1 diabetes mellitus 12 9.9 TNFRSF25 TNFRSF10A
8 pemphigoid gestationis 9.9 TNFRSF25 TNFRSF10A
9 type 1 diabetes mellitus 5 9.9 TNFRSF25 TNFRSF10A
10 cholangitis, primary sclerosing 9.9 TNFRSF25 SEPSECS DNAL1
11 hermansky-pudlak syndrome 6 9.9 AMELX AMBN
12 immunodeficiency 31c 9.9 TNFRSF25 TNFRSF10A
13 adrenal cortical hypofunction 9.8 TNFRSF25 TNFRSF10A
14 tooth resorption 9.8 AMELX AMBN
15 type 1 diabetes mellitus 2 9.8 TNFRSF25 TNFRSF10A
16 bone benign neoplasm 9.8 AMELX AMBN
17 autoimmune disease of endocrine system 9.8 TNFRSF25 TNFRSF10A
18 dentine erosion 9.8 ENAM AMELX AMBN
19 pulp degeneration 9.8 ENAM AMELX AMBN
20 autoimmune disease of gastrointestinal tract 9.8 TNFRSF25 TNFRSF10A SEPSECS
21 enamel caries 9.8 ENAM AMELX AMBN
22 hypercementosis 9.8 ENAM AMELX AMBN
23 autoimmune hepatitis 9.8 SEPSECS FTCD CYP2D6 ASGR1
24 tooth erosion 9.7 ENAM AMELX AMBN
25 autoimmune disease of skin and connective tissue 9.7 TNFRSF25 TNFRSF10A
26 trichodentoosseous syndrome 9.7 ENAM AMELX AMBN
27 dentin dysplasia 9.7 ENAM AMELX AMBN
28 dental caries 9.7 ENAM AMELX AMBN
29 ameloblastoma 9.6 AMELX AMBN
30 dental fluorosis 9.5 ENAM AMTN AMELX AMBN
31 teeth hard tissue disease 9.5 ENAM AMTN AMELX AMBN
32 amelogenesis imperfecta, type iiia 9.5 ENAM AMTN AMELX AMBN
33 junctional epidermolysis bullosa 9.5 ENAM AMTN AMELX AMBN
34 tooth agenesis 9.4 ENAM AMTN AMELX AMBN
35 tooth disease 9.4 ENAM AMELX AMBN
36 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 9.3 SEPSECS DNAL1 AMTN AMELX AMBN
37 amelogenesis imperfecta, type ie 8.3 TNFRSF25 TNFRSF10A SEPSECS FTCD DNAL1 CYP2D6

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:

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

Clinical features from OMIM®:

104500 (Updated 20-May-2021)

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ib

Search Clinical Trials , 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

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Ib:

40
Liver, Bone, Skin, Kidney

Publications for Amelogenesis Imperfecta, Type Ib

Articles related to Amelogenesis Imperfecta, Type Ib:

(show all 25)
# Title Authors PMID Year
1
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). 57 6 61
11978766 2002
2
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. 6 57
17125728 2007
3
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. 6 57
11487571 2001
4
Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21. 57 61
9027503 1997
5
Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. 6
28334996 2017
6
ENAM mutations with incomplete penetrance. 57
25143514 2014
7
Molecular characterization of amelogenesis imperfecta in Chinese patients. 6
22414746 2012
8
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. 6
14684688 2003
9
Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q. 57
7833920 1994
10
Amelogenesis imperfecta: a genetic study. 57
3169793 1988
11
Facial morphology and open bite deformity in amelogenesis imperfecta. A roentgenocephalometric study. 57
6957136 1982
12
Electron-optic analyses of hypomineralized amelogenesis imperfecta in man. 57
4625727 1972
13
Hereditary enamel dysplasia. 57
13655172 1959
14
Hereditary defects in enamel and dentin. 57
13469154 1957
15
Human leucocyte antigens and pediatric autoimmune liver disease: diagnosis and prognosis. 61
26567543 2016
16
Characteristics and outcome of autoimmune liver disease in Asian children. 61
25788179 2015
17
Childhood autoimmune liver disease: indications and outcome of liver transplantation. 61
20118802 2010
18
A mutation in the enamelin gene in a mouse model. 61
17652207 2007
19
A novel autosomal-recessive mutation, whitish chalk-like teeth, resembling amelogenesis imperfecta, maps to rat chromosome 14 corresponding to human 4q21. 61
16324133 2005
20
Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI). 61
15649948 2005
21
[Analytic study of dot blotting for the detection of anti-Jo-1, anti-M2, anti-ribosomes and anti-LKM]. 61
15297236 2004
22
Cytochrome P4502D6(193-212): a new immunodominant epitope and target of virus/self cross-reactivity in liver kidney microsomal autoantibody type 1-positive liver disease. 61
12538711 2003
23
Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. 61
11330937 2001
24
Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21. 61
9126491 1997
25
Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q. 61
9022927 1996

Variations for Amelogenesis Imperfecta, Type Ib

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ib:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ENAM NM_031889.3(ENAM):c.123+2T>G SNV Pathogenic 517662 rs1553887511 GRCh37: 4:71497457-71497457
GRCh38: 4:70631740-70631740
2 ENAM NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) Insertion Pathogenic 4238 rs587776588 GRCh37: 4:71508402-71508403
GRCh38: 4:70642685-70642686
3 ENAM NM_031889.3(ENAM):c.157A>T (p.Lys53Ter) SNV Pathogenic 4237 rs121908109 GRCh37: 4:71497599-71497599
GRCh38: 4:70631882-70631882
4 ENAM NM_031889.3(ENAM):c.534+1G>A SNV Pathogenic 4236 rs587776587 GRCh37: 4:71501612-71501612
GRCh38: 4:70635895-70635895
5 ENAM NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) SNV Pathogenic/Likely pathogenic 374930 rs1060499539 GRCh37: 4:71497424-71497424
GRCh38: 4:70631707-70631707
6 ENAM NM_031889.3(ENAM):c.2315C>A (p.Ala772Asp) SNV Uncertain significance 1031471 GRCh37: 4:71509458-71509458
GRCh38: 4:70643741-70643741

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

72
# Symbol AA change Variation ID SNP ID
1 ENAM p.Ser216Leu VAR_073665 rs867263935

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

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.63 TNFRSF25 ENAM ASGR1 AMTN AMELX AMBN
2 extracellular matrix GO:0031012 9.13 ENAM AMTN AMELX
3 endoplasmic reticulum lumen GO:0005788 8.92 ENAM AMTN AMELX AMBN

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.62 ENAM AMTN AMELX AMBN
2 cellular protein metabolic process GO:0044267 9.56 ENAM AMTN AMELX AMBN
3 odontogenesis of dentin-containing tooth GO:0042475 9.33 AMTN AMELX AMBN
4 positive regulation of enamel mineralization GO:0070175 8.96 ENAM AMTN
5 biomineral tissue development GO:0031214 8.92 ENAM AMTN AMELX AMBN

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 8.8 ENAM AMELX AMBN

Sources for Amelogenesis Imperfecta, Type Ib

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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