Amelogenesis Imperfecta, Type Iiia; Ai3a

Description

Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be lost soon after eruption leaving the crown composed only of dentin. The enamel has a cheesy consistency and can be scraped from the dentin. An anterior open bite has been recorded in over 60% of the cases observed. The hypocalcification type is the most frequent type of enamel dysplasia, occurring in about 1 in 20,000 individuals (Witkop and Sauk, 1976). Large masses of supragingival calculus become deposited on the teeth, and this is frequently associated with severe gingivitis or periodontitis (Winter and Brook, 1975).

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta, Type Iiia; Ai3a

  • Pain
  • Dental malocclusion
  • Hypoplasia of dental enamel
  • Open bite
  • Amelogenesis imperfecta
  • Anterior open bite

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Amelogenesis Imperfecta, Type Iiia; Ai3a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amelogenesis imperfecta type IIA5 (sequence analysis of SLC24A4 gene).

By CGC Genetics in Portugal.

SLC24A4
Specificity
100 %
Genes
25 %
Amelogenesis Imperfecta Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

LAMB3, LAMA3, ROGDI, CNNM4, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, LTBP3, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6, SMOC2
Specificity
17 %
Genes
75 %
Amelogenesis imperfecta and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

LAMB3, LAMA3, DSPP, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6, SMOC2
Specificity
19 %
Genes
75 %
Amelogenesis imperfecta and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

LAMB3, LAMA3, DSPP, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6, SMOC2
Specificity
19 %
Genes
75 %
Amelogenesis imperfecta and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

LAMB3, LAMA3, DSPP, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6, SMOC2
Specificity
19 %
Genes
75 %
Skin hair eye pigmentation 6.

By Centogene AG - the Rare Disease Company in Germany.

SLC24A4
Specificity
100 %
Genes
25 %
SLC24A4.

By Fulgent Genetics Fulgent Genetics in United States.

SLC24A4
Specificity
100 %
Genes
25 %
Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel.

By Blueprint Genetics in Finland.

LAMB3, DSPP, FAM20A, AMELX, SLC24A4, DLX3, FAM83H, LTBP3, ENAM, KLK4, MMP20, ODAPH, WDR72, GPR68, ITGB6
Specificity
20 %
Genes
75 %
Amelotin deficiency.

By Centogene AG - the Rare Disease Company in Germany.

AMTN
Specificity
100 %
Genes
25 %
AMTN.

By Fulgent Genetics Fulgent Genetics in United States.

AMTN
Specificity
100 %
Genes
25 %
Amelogenesis imperfecta type III (sequence analysis of FAM83H gene).

By CGC Genetics in Portugal.

FAM83H
Specificity
100 %
Genes
25 %
Amelogenesis Imperfecta via FAM83H Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FAM83H
Specificity
100 %
Genes
25 %
Amelogenesis imperfecta panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

FAM20A, AMELX, DLX3, FAM83H, ENAM, KLK4, ODAPH, WDR72
Specificity
13 %
Genes
25 %
Amelogenesis imperfecta type 3.

By Centogene AG - the Rare Disease Company in Germany.

FAM83H
Specificity
100 %
Genes
25 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
25 %
Amelogenesis Imperfecta NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FKBP10, IFITM5, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PPIB, DSPP, BMP1, SERPINH1, FAM20A, AMELX, DLX3, FAM83H, ENAM, KLK4, MMP20, WDR72
Specificity
5 %
Genes
25 %
FAM83H.

By Fulgent Genetics Fulgent Genetics in United States.

FAM83H
Specificity
100 %
Genes
25 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
25 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
25 %
Amelogenesis Imperfecta , Panel Massive Sequencing (NGS) 9 Genes.

By Reference Laboratory Genetics in Spain.

LAMB3, FAM20A, AMELX, DLX3, FAM83H, ENAM, KLK4, MMP20, WDR72
Specificity
12 %
Genes
25 %
Amelogenesis imperfecta type 1H.

By Centogene AG - the Rare Disease Company in Germany.

ITGB6
Specificity
100 %
Genes
25 %
ITGB6.

By Fulgent Genetics Fulgent Genetics in United States.

ITGB6
Specificity
100 %
Genes
25 %

Alternate names

Amelogenesis Imperfecta, Type Iiia; Ai3a Is also known as amelogenesis imperfecta, type iii;ai3, amelogenesis imperfecta, hypocalcification type, autosomal dominant;adhcai, amelogenesis imperfecta, hypomineralization type;amelogenesis imperfecta type 3.


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