AI1C
MCID: AML018
MIFTS: 29

Amelogenesis Imperfecta, Type Ic (AI1C)

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Ic

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ic:

Name: Amelogenesis Imperfecta, Type Ic 56 29 13 6 39 71
Ai1c 56 12 73
Amelogenesis Imperfecta Type 1c 12 15
Amelogenesis Imperfecta Type Ic 12 73
Amelogenesis Imperfecta, Hypoplastic, with or Without Open-Bite Malocclusion, Autosomal Recessive 56
Autosomal Recessive Amelogenesis Imperfecta Hypoplastic with or Without Openbite Malocclusion 12
Amelogenesis Imperfecta Hypoplastic with or Without Openbite Malocclusion Autosomal Recessive 73
Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive 56
Autosomal Recessive Amelogenesis Imperfecta Local Hypoplastic Type 12
Amelogenesis Imperfecta Local Hypoplastic Type Autosomal Recessive 73
Amelogenesis Imperfecta 1c 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
amelogenesis imperfecta, type ic:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110056
OMIM 56 204650
OMIM Phenotypic Series 56 PS104500
MeSH 43 D000567
ICD10 32 K00.5
MedGen 41 C2673923
SNOMED-CT via HPO 68 109487003 258211005 78494001
UMLS 71 C2673923

Summaries for Amelogenesis Imperfecta, Type Ic

UniProtKB/Swiss-Prot : 73 Amelogenesis imperfecta 1C: An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion.

MalaCards based summary : Amelogenesis Imperfecta, Type Ic, also known as ai1c, is related to hypocalcified amelogenesis imperfecta and hypercementosis. An important gene associated with Amelogenesis Imperfecta, Type Ic is ENAM (Enamelin). Affiliated tissues include salivary gland, and related phenotypes are amelogenesis imperfecta and yellow-brown discoloration of the teeth

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous mutation in the enamelin gene (ENAM).

More information from OMIM: 204650 PS104500

Related Diseases for Amelogenesis Imperfecta, Type Ic

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 Ic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 hypocalcified amelogenesis imperfecta 10.0 MMP20 ENAM
2 hypercementosis 10.0 MMP20 ENAM
3 amelogenesis imperfecta, type ib 10.0 MMP20 ENAM
4 lipodystrophy, familial partial, type 6 9.9 RGS9 ECHS1
5 adamantinous craniopharyngioma 9.9 MMP20 ENAM
6 craniopharyngioma 9.9 MMP20 ENAM
7 tooth erosion 9.9 ENAM AMELX
8 papillary craniopharyngioma 9.9 MMP20 ENAM
9 amelogenesis imperfecta, type ie 9.8 ENAM AMELX
10 dentin dysplasia 9.7 MMP20 ENAM
11 amelogenesis imperfecta hypomaturation type 9.6 MMP20 AMELX
12 amelogenesis imperfecta 9.6 MMP20 ENAM AMELX
13 amelogenesis imperfecta, type iiia 9.6 MMP20 ENAM AMELX
14 dental fluorosis 9.5 MMP20 ENAM AMELX
15 teeth hard tissue disease 9.5 MMP20 ENAM AMELX
16 ameloblastoma 9.5 MMP20 ENAM AMELX
17 dental caries 9.5 ENAM AMELX
18 tooth agenesis 9.4 MMP20 ENAM AMELX
19 enamel caries 8.9 MMP20 ENAM DES AMELX

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



Diseases related to Amelogenesis Imperfecta, Type Ic

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ic

Human phenotypes related to Amelogenesis Imperfecta, Type Ic:

31
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 31 HP:0000705
2 yellow-brown discoloration of the teeth 31 HP:0006286
3 hypomineralization of enamel 31 HP:0006285
4 anterior open-bite malocclusion 31 HP:0009102

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
yellow-brown discoloration of the teeth
decreased enamel mineralisation

Head And Neck Mouth:
anterior openbite malocclusion (some)

Head And Neck Face:
retrognathic mandibular position (some)
vertical dysgnathia (some)

Clinical features from OMIM:

204650

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ic

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Type Ic

Genetic Tests for Amelogenesis Imperfecta, Type Ic

Genetic tests related to Amelogenesis Imperfecta, Type Ic:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type Ic 29 ENAM

Anatomical Context for Amelogenesis Imperfecta, Type Ic

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

40
Salivary Gland

Publications for Amelogenesis Imperfecta, Type Ic

Articles related to Amelogenesis Imperfecta, Type Ic:

# Title Authors PMID Year
1
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. 56 6
14684688 2003
2
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. 6
17125728 2007
3
Analysis of a kindred with amelogenesis imperfecta. 56
3925102 1985
4
An investigation of the association between anterior open-bite and amelogenesis imperfecta. 56
6960709 1982
5
Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. 56
284277 1979

Variations for Amelogenesis Imperfecta, Type Ic

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ic:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ENAM NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter)SNV Pathogenic 488662 rs1553888384 4:71508985-71508985 4:70643268-70643268
2 ENAM NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)insertion Pathogenic/Likely pathogenic 4238 rs587776588 4:71508402-71508403 4:70642685-70642686

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

73
# Symbol AA change Variation ID SNP ID
1 ENAM p.Ser216Leu VAR_073665 rs867263935

Expression for Amelogenesis Imperfecta, Type Ic

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

Pathways for Amelogenesis Imperfecta, Type Ic

GO Terms for Amelogenesis Imperfecta, Type Ic

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.8 MMP20 ENAM AMELX

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

# Name GO ID Score Top Affiliating Genes
1 odontogenesis of dentin-containing tooth GO:0042475 9.16 ENAM AMELX
2 biomineral tissue development GO:0031214 8.96 ENAM AMELX
3 amelogenesis GO:0097186 8.62 MMP20 ENAM

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

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

Sources for Amelogenesis Imperfecta, Type Ic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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