AI1C
MCID: AML018
MIFTS: 19

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 73
Ai1c 57 12 75
Amelogenesis Imperfecta Type Ic 12 75
Amelogenesis Imperfecta, Hypoplastic, with or Without Openbite 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 75
Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive 57
Autosomal Recessive Amelogenesis Imperfecta Local Hypoplastic Type 12
Amelogenesis Imperfecta Local Hypoplastic Type Autosomal Recessive 75
Amelogenesis Imperfecta Type 1c 12
Amelogenesis Imperfecta 1c 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 57 204650
Disease Ontology 12 DOID:0110056
ICD10 33 K00.5
MedGen 42 C2673923
MeSH 44 D000567
SNOMED-CT via HPO 69 258211005 78494001 109487003
UMLS 73 C2673923

Summaries for Amelogenesis Imperfecta, Type Ic

UniProtKB/Swiss-Prot : 75 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

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

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

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

Publications for Amelogenesis Imperfecta, Type Ic

Variations for Amelogenesis Imperfecta, Type Ic

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

75
# 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 GRCh38 Chromosome 4, 70643268: 70643268
4 ENAM NM_031889.2(ENAM): c.1842C> G (p.Tyr614Ter) single nucleotide variant Pathogenic 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 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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