Amelogenesis Imperfecta-gingival Hyperplasia Syndrome

Description

This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption.

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta-gingival Hyperplasia Syndrome

  • Intellectual disability
  • Seizures
  • Thick eyebrow
  • Delayed eruption of teeth
  • Subcutaneous nodule
  • Amelogenesis imperfecta
  • Abnormal eyebrow morphology
  • Gingival fibromatosis
  • Pulp stones

Incidence and onset information

Not enough data available about incidence and published cases.


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Amelogenesis Imperfecta-gingival Hyperplasia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Amelogenesis Imperfecta with Gingival Hyperplasia Syndrome and Amelogenesis Imperfecta with Renal Syndrome via the FAM20A Gene.

By PreventionGenetics PreventionGenetics in United States.

FAM20A
Specificity
100 %
Genes
100 %
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
6 %
Genes
100 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
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
7 %
Genes
100 %
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
7 %
Genes
100 %
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
7 %
Genes
100 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Amelogenesis imperfecta panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

FAM20A, AMELX, DLX3, FAM83H, ENAM, KLK4, ODAPH, WDR72
Specificity
13 %
Genes
100 %
Amelogenesis imperfecta type 1G.

By Centogene AG - the Rare Disease Company in Germany.

FAM20A
Specificity
100 %
Genes
100 %
AmelogenesisĀ 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
100 %
FAM20A.

By Fulgent Genetics Fulgent Genetics in United States.

FAM20A
Specificity
100 %
Genes
100 %
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
100 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
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
7 %
Genes
100 %
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
100 %
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
100 %


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