AI1J
MCID: AML059
MIFTS: 21

Amelogenesis Imperfecta, Type Ij (AI1J)

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Ij

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ij:

Name: Amelogenesis Imperfecta, Type Ij 56 29 6 17
Ai1j 56 73
Amelogenesis Imperfecta 1j 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
amelogenesis imperfecta, type ij:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 617297
OMIM Phenotypic Series 56 PS104500
MeSH 43 D000567

Summaries for Amelogenesis Imperfecta, Type Ij

OMIM : 56 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 : 73 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

Human phenotypes related to Amelogenesis Imperfecta, Type Ij:

31
# Description HPO Frequency HPO Source Accession
1 carious teeth 31 very rare (1%) HP:0000670
2 overbite 31 very rare (1%) HP:0011094
3 widely spaced teeth 31 HP:0000687
4 amelogenesis imperfecta 31 HP:0000705
5 hypoplasia of dental enamel 31 HP:0006297

Symptoms via clinical synopsis from OMIM:

56
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

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

Articles related to Amelogenesis Imperfecta, Type Ij:

# Title Authors PMID Year
1
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 56 6
27843125 2016
2
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 56
3150442 1988

Variations for Amelogenesis Imperfecta, Type Ij

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ij:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACP4 NM_033068.3(ACP4):c.713C>T (p.Ser238Leu)SNV Pathogenic 374862 rs763573828 19:51297008-51297008 19:50793751-50793751
2 ACP4 NM_033068.3(ACP4):c.331C>T (p.Arg111Cys)SNV Pathogenic 374863 rs202073531 19:51294940-51294940 19:50791683-50791683
3 ACP4 NM_033068.3(ACP4):c.226C>T (p.Arg76Cys)SNV Pathogenic 374864 rs1057519277 19:51294040-51294040 19:50790783-50790783
4 ACP4 NM_033068.3(ACP4):c.382G>C (p.Ala128Pro)SNV Pathogenic 374865 rs767907487 19:51294991-51294991 19:50791734-50791734
5 ACP4 NM_033068.3(ACP4):c.397G>A (p.Glu133Lys)SNV Pathogenic 374866 rs779823931 19:51295006-51295006 19:50791749-50791749
6 ACP4 NM_033068.3(ACP4):c.746C>T (p.Pro249Leu)SNV Pathogenic 375694 rs1085307111 19:51297041-51297041 19:50793784-50793784
7 ACP4 NM_033068.3(ACP4):c.428C>T (p.Thr143Met)SNV Pathogenic 375700 rs546603773 19:51295037-51295037 19:50791780-50791780

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

73
# 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

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 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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