AI3C
MCID: AML064
MIFTS: 12

Amelogenesis Imperfecta, Type Iiic (AI3C)

Categories: 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 58 6
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive 58
Ai3c 58

Classifications:



External Ids:

OMIM 58 618386

Summaries for Amelogenesis Imperfecta, Type Iiic

OMIM : 58 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)

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 Diseases for Amelogenesis Imperfecta, Type Iiic

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iiic

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

Anatomical Context for Amelogenesis Imperfecta, Type Iiic

Publications for Amelogenesis Imperfecta, Type Iiic

Articles related to Amelogenesis Imperfecta, Type Iiic:

# Title Authors Year
1
Mutations in RELT cause autosomal recessive amelogenesis imperfecta. ( 30506946 )
2019

Variations for Amelogenesis Imperfecta, Type Iiic

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iiic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RELT NM_032871.3(RELT): c.1169_1170delCT (p.Pro390Argfs) deletion Pathogenic GRCh37 Chromosome 11, 73106254: 73106255
2 RELT NM_032871.3(RELT): c.1169_1170delCT (p.Pro390Argfs) deletion Pathogenic GRCh38 Chromosome 11, 73395209: 73395210
3 RELT NM_032871.3(RELT): c.1265G> C (p.Arg422Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 73395463: 73395463
4 RELT NM_032871.3(RELT): c.1265G> C (p.Arg422Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 73106508: 73106508
5 RELT NM_032871.3(RELT): c.121-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 11, 73390753: 73390753
6 RELT NM_032871.3(RELT): c.121-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 11, 73101798: 73101798

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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50 NCI
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52 NDF-RT
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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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