AI3C
MCID: AML064
MIFTS: 18

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 56 73 29 6
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive 56 73
Ai3c 56 73
Amelogenesis Imperfecta 3c 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
amelogenesis imperfecta, type iiic:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618386
OMIM Phenotypic Series 56 PS104500
MeSH 43 D000567
SNOMED-CT via HPO 68 258211005 78494001

Summaries for Amelogenesis Imperfecta, Type Iiic

UniProtKB/Swiss-Prot : 73 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). Related phenotypes are amelogenesis imperfecta and hypocalcification of dental enamel

OMIM : 56 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

Human phenotypes related to Amelogenesis Imperfecta, Type Iiic:

31
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 31 HP:0000705
2 hypocalcification of dental enamel 31 HP:0011084
3 yellow-brown discoloration of the teeth 31 HP:0006286
4 anterior open-bite malocclusion 31 HP:0009102

Symptoms via clinical synopsis from OMIM:

56
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. 56 6
30506946 2019

Variations for Amelogenesis Imperfecta, Type Iiic

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iiic:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RELT NM_152222.2(RELT):c.1169_1170del (p.Pro390fs)deletion Pathogenic 625368 rs772929908 11:73106254-73106255 11:73395209-73395210
2 RELT NM_152222.2(RELT):c.1265G>C (p.Arg422Pro)SNV Pathogenic 625369 rs762816338 11:73106508-73106508 11:73395463-73395463
3 RELT NM_152222.2(RELT):c.121-2A>GSNV Pathogenic 625370 rs1565222166 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 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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