AI1C
MCID: AML018
MIFTS: 20

Amelogenesis Imperfecta, Type Ic (AI1C)

Categories: 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 58 30 13 6 41 74
Ai1c 58 12 76
Amelogenesis Imperfecta Type Ic 12 76
Amelogenesis Imperfecta, Hypoplastic, with or Without Open-Bite Malocclusion, Autosomal Recessive 58
Autosomal Recessive Amelogenesis Imperfecta Hypoplastic with or Without Openbite Malocclusion 12
Amelogenesis Imperfecta Hypoplastic with or Without Openbite Malocclusion Autosomal Recessive 76
Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive 58
Autosomal Recessive Amelogenesis Imperfecta Local Hypoplastic Type 12
Amelogenesis Imperfecta Local Hypoplastic Type Autosomal Recessive 76
Amelogenesis Imperfecta Type 1c 12
Amelogenesis Imperfecta 1c 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amelogenesis imperfecta, type ic:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110056
OMIM 58 204650
MeSH 45 D000567
ICD10 34 K00.5
MedGen 43 C2673923
SNOMED-CT via HPO 70 109487003 258211005 78494001
UMLS 74 C2673923

Summaries for Amelogenesis Imperfecta, Type Ic

UniProtKB/Swiss-Prot : 76 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, is also known as ai1c. An important gene associated with Amelogenesis Imperfecta, Type Ic is ENAM (Enamelin). 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).

Description from OMIM: 204650

Related Diseases for Amelogenesis Imperfecta, Type Ic

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ic

Human phenotypes related to Amelogenesis Imperfecta, Type Ic:

33
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 33 HP:0000705
2 yellow-brown discoloration of the teeth 33 HP:0006286
3 hypomineralization of enamel 33 HP:0006285
4 anterior open-bite malocclusion 33 HP:0009102

Symptoms via clinical synopsis from OMIM:

58
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 30 ENAM

Anatomical Context for Amelogenesis Imperfecta, Type Ic

Publications for Amelogenesis Imperfecta, Type Ic

Articles related to Amelogenesis Imperfecta, Type Ic:

# Title Authors Year
1
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. ( 17125728 )
2007
2
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. ( 14684688 )
2003

Variations for Amelogenesis Imperfecta, Type Ic

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

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

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ENAM NM_031889.2(ENAM): c.1259_1260insAG (p.Pro422Valfs) insertion Pathogenic/Likely pathogenic rs587776588 GRCh38 Chromosome 4, 70642685: 70642686
2 ENAM NM_031889.2(ENAM): c.1259_1260insAG (p.Pro422Valfs) insertion Pathogenic/Likely pathogenic rs587776588 GRCh37 Chromosome 4, 71508402: 71508403
3 ENAM NM_031889.2(ENAM): c.1842C> G (p.Tyr614Ter) single nucleotide variant Pathogenic rs1553888384 GRCh38 Chromosome 4, 70643268: 70643268
4 ENAM NM_031889.2(ENAM): c.1842C> G (p.Tyr614Ter) single nucleotide variant Pathogenic rs1553888384 GRCh37 Chromosome 4, 71508985: 71508985

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

Sources for Amelogenesis Imperfecta, Type Ic

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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