AI1C
MCID: AML018
MIFTS: 22

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 57 29 13 6 40 72
Ai1c 57 12 74
Amelogenesis Imperfecta Type Ic 12 74
Amelogenesis Imperfecta, Hypoplastic, with or Without Open-Bite Malocclusion, Autosomal Recessive 57
Autosomal Recessive Amelogenesis Imperfecta Hypoplastic with or Without Openbite Malocclusion 12
Amelogenesis Imperfecta Hypoplastic with or Without Openbite Malocclusion Autosomal Recessive 74
Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive 57
Autosomal Recessive Amelogenesis Imperfecta Local Hypoplastic Type 12
Amelogenesis Imperfecta Local Hypoplastic Type Autosomal Recessive 74
Amelogenesis Imperfecta Type 1c 12
Amelogenesis Imperfecta 1c 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
amelogenesis imperfecta, type ic:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0110056
MeSH 44 D000567
ICD10 33 K00.5
MedGen 42 C2673923
UMLS 72 C2673923

Summaries for Amelogenesis Imperfecta, Type Ic

UniProtKB/Swiss-Prot : 74 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). 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

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ic

Human phenotypes related to Amelogenesis Imperfecta, Type Ic:

32
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 32 HP:0000705
2 yellow-brown discoloration of the teeth 32 HP:0006286
3 hypomineralization of enamel 32 HP:0006285
4 anterior open-bite malocclusion 32 HP:0009102

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
14684688 2003
2
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. 71
17125728 2007
3
Analysis of a kindred with amelogenesis imperfecta. 8
3925102 1985
4
An investigation of the association between anterior open-bite and amelogenesis imperfecta. 8
6960709 1982
5
Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. 8
284277 1979

Variations for Amelogenesis Imperfecta, Type Ic

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ic:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ENAM NM_031889.3(ENAM): c.1842C> G (p.Tyr614Ter) single nucleotide variant Pathogenic rs1553888384 4:71508985-71508985 4:70643268-70643268
2 ENAM NM_031889.3(ENAM): c.1259_1260insAG (p.Pro422fs) insertion Pathogenic/Likely pathogenic rs587776588 4:71508402-71508403 4:70642685-70642686

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

74
# 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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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