AI1J
MCID: AML059
MIFTS: 17

Amelogenesis Imperfecta, Type Ij (AI1J)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Ij

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ij:

Name: Amelogenesis Imperfecta, Type Ij 57 29 6
Ai1j 57 75
Amelogenesis Imperfecta 1j 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
five unrelated consanguineous turkish families have been described (last curated december 2016)


HPO:

32
amelogenesis imperfecta, type ij:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Amelogenesis Imperfecta, Type Ij

OMIM : 57 Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988). (617297)

MalaCards based summary : Amelogenesis Imperfecta, Type Ij, is also known as ai1j. An important gene associated with Amelogenesis Imperfecta, Type Ij is ACP4 (Acid Phosphatase 4). Related phenotypes are carious teeth and overbite

UniProtKB/Swiss-Prot : 75 Amelogenesis imperfecta 1J: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin.

Related Diseases for Amelogenesis Imperfecta, Type Ij

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ij

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
thin enamel
normal dentin
enamel discolorization ranging from yellow to black
sensitivity to thermal stimuli (in some patients)
deep overbite (in some patients)
more

Clinical features from OMIM:

617297

Human phenotypes related to Amelogenesis Imperfecta, Type Ij:

32
# Description HPO Frequency HPO Source Accession
1 carious teeth 32 occasional (7.5%) HP:0000670
2 overbite 32 occasional (7.5%) HP:0011094

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ij

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

Genetic Tests for Amelogenesis Imperfecta, Type Ij

Genetic tests related to Amelogenesis Imperfecta, Type Ij:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type Ij 29 ACP4

Anatomical Context for Amelogenesis Imperfecta, Type Ij

Publications for Amelogenesis Imperfecta, Type Ij

Variations for Amelogenesis Imperfecta, Type Ij

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

75
# Symbol AA change Variation ID SNP ID
1 ACP4 p.Arg76Cys VAR_078014 rs105751927
2 ACP4 p.Arg111Cys VAR_078015 rs202073531
3 ACP4 p.Ser238Leu VAR_078018 rs763573828

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ij:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACP4 NM_033068.2(ACP4): c.713C> T (p.Ser238Leu) single nucleotide variant Pathogenic rs763573828 GRCh37 Chromosome 19, 51297008: 51297008
2 ACP4 NM_033068.2(ACP4): c.713C> T (p.Ser238Leu) single nucleotide variant Pathogenic rs763573828 GRCh38 Chromosome 19, 50793751: 50793751
3 ACP4 NM_033068.2(ACP4): c.331C> T (p.Arg111Cys) single nucleotide variant Pathogenic rs202073531 GRCh37 Chromosome 19, 51294940: 51294940
4 ACP4 NM_033068.2(ACP4): c.331C> T (p.Arg111Cys) single nucleotide variant Pathogenic rs202073531 GRCh38 Chromosome 19, 50791683: 50791683
5 ACP4 NM_033068.2(ACP4): c.226C> T (p.Arg76Cys) single nucleotide variant Pathogenic rs1057519277 GRCh37 Chromosome 19, 51294040: 51294040
6 ACP4 NM_033068.2(ACP4): c.226C> T (p.Arg76Cys) single nucleotide variant Pathogenic rs1057519277 GRCh38 Chromosome 19, 50790783: 50790783
7 ACP4 NM_033068.2(ACP4): c.382G> C (p.Ala128Pro) single nucleotide variant Pathogenic rs767907487 GRCh38 Chromosome 19, 50791734: 50791734
8 ACP4 NM_033068.2(ACP4): c.382G> C (p.Ala128Pro) single nucleotide variant Pathogenic rs767907487 GRCh37 Chromosome 19, 51294991: 51294991
9 ACP4 NM_033068.2(ACP4): c.397G> A (p.Glu133Lys) single nucleotide variant Pathogenic rs779823931 GRCh37 Chromosome 19, 51295006: 51295006
10 ACP4 NM_033068.2(ACP4): c.397G> A (p.Glu133Lys) single nucleotide variant Pathogenic rs779823931 GRCh38 Chromosome 19, 50791749: 50791749
11 ACP4 NM_033068.2(ACP4): c.746C> T (p.Pro249Leu) single nucleotide variant Pathogenic rs1085307111 GRCh38 Chromosome 19, 50793784: 50793784
12 ACP4 NM_033068.2(ACP4): c.746C> T (p.Pro249Leu) single nucleotide variant Pathogenic rs1085307111 GRCh37 Chromosome 19, 51297041: 51297041
13 ACP4 NM_033068.2(ACP4): c.428C> T (p.Thr143Met) single nucleotide variant Pathogenic rs546603773 GRCh37 Chromosome 19, 51295037: 51295037
14 ACP4 NM_033068.2(ACP4): c.428C> T (p.Thr143Met) single nucleotide variant Pathogenic rs546603773 GRCh38 Chromosome 19, 50791780: 50791780

Expression for Amelogenesis Imperfecta, Type Ij

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

Pathways for Amelogenesis Imperfecta, Type Ij

GO Terms for Amelogenesis Imperfecta, Type Ij

Sources for Amelogenesis Imperfecta, Type Ij

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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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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