AI3C
MCID: AML064
MIFTS: 17

Amelogenesis Imperfecta, Type Iiic (AI3C)

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Iiic

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iiic:

Name: Amelogenesis Imperfecta, Type Iiic 57 74 29 6
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive 57 74
Ai3c 57 74
Amelogenesis Imperfecta 3c 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 3 consanguineous turkish families (last curated april 2019)


Classifications:



External Ids:

MeSH 44 D000567
MedGen 42 CN258278

Summaries for Amelogenesis Imperfecta, Type Iiic

UniProtKB/Swiss-Prot : 74 Amelogenesis imperfecta 3C: An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides.

MalaCards based summary : Amelogenesis Imperfecta, Type Iiic, is also known as amelogenesis imperfecta, hypocalcification type, autosomal recessive. An important gene associated with Amelogenesis Imperfecta, Type Iiic is RELT (RELT TNF Receptor).

OMIM : 57 Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. Some affected individuals have anterior open bite (Kim et al., 2019). (618386)

Related Diseases for Amelogenesis Imperfecta, Type Iiic

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iiic

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
rough enamel surface
yellow-brown enamel
hypocalcified enamel
loss of enamel on occlusal surface
anterior openbite (in 1 patient)

Clinical features from OMIM:

618386

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iiic

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

Genetic Tests for Amelogenesis Imperfecta, Type Iiic

Genetic tests related to Amelogenesis Imperfecta, Type Iiic:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type Iiic 29 RELT

Anatomical Context for Amelogenesis Imperfecta, Type Iiic

Publications for Amelogenesis Imperfecta, Type Iiic

Articles related to Amelogenesis Imperfecta, Type Iiic:

# Title Authors PMID Year
1
Mutations in RELT cause autosomal recessive amelogenesis imperfecta. 8 71
30506946 2019

Variations for Amelogenesis Imperfecta, Type Iiic

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iiic:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RELT NM_032871.3(RELT): c.1169_1170delCT deletion Pathogenic 11:73106254-73106255 11:73395209-73395210
2 RELT NM_032871.3(RELT): c.1265G> C (p.Arg422Pro) single nucleotide variant Pathogenic 11:73106508-73106508 11:73395463-73395463
3 RELT NM_032871.3(RELT): c.121-2A> G single nucleotide variant Pathogenic 11:73101798-73101798 11:73390753-73390753

Expression for Amelogenesis Imperfecta, Type Iiic

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

Pathways for Amelogenesis Imperfecta, Type Iiic

GO Terms for Amelogenesis Imperfecta, Type Iiic

Sources for Amelogenesis Imperfecta, Type Iiic

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
Content
Loading form....