Amelogenesis Imperfecta, Type Ie; Ai1e

Description

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).

Genes related to Amelogenesis Imperfecta, Type Ie; Ai1e

AMELX
ARHGAP6

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta, Type Ie; Ai1e

Abnormality of metabolism/homeostasis
Microdontia
Confusion
Hypoplasia of dental enamel
Amelogenesis imperfecta
Anterior open bite

Incidence and onset information

— Not enough data available about incidence and published cases.

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Amelogenesis Imperfecta, Type Ie; Ai1e Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AMELX. Determination of chromosomal dosage XY by PCR. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. AMELX Specificity 100 % Genes 50 %
AMELX. Determination of chromosomal dosage XY by PCR. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. AMELX Specificity 100 % Genes 50 %
Amelogenesis Imperfecta via the AMELX Gene. By PreventionGenetics PreventionGenetics in United States. AMELX Specificity 100 % Genes 50 %
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 50 %
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 50 %
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 50 %
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 50 %
Amelogenesis imperfecta panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. FAM20A, AMELX, DLX3, FAM83H, ENAM, KLK4, ODAPH, WDR72 Specificity 13 % Genes 50 %
Amelogenesis imperfecta type 1E. By Centogene AG - the Rare Disease Company in Germany. AMELX Specificity 100 % Genes 50 %
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 Panel GTR000552865 complete gene list RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3, SMC1A, NIPBL, NSD1, PTCH1, FGFR1, FGF8, SIX3, KMT2D, ANKRD11, OFD1, FGD1, ZEB2, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, DSPP, POLR1C, PAX3, SNAI2, SOX10, TCOF1, SIX1, FGF3, SEMA3E, TFAP2A, POLR1D, MID1, MED12, KAT6B, WDR35, PTH1R, NAA10, RAB23, MSX2, TWIST1, TGIF1, ZIC2, CDON, GLI2, TGFBR1, TGFBR2, SKI, EZH2, GLI3, MITF, TP63, KDM6A, GDF6, WDR19, FGF10, ALX4, SALL4, EFNB1, EFTUD2, GNAI3, SH3BP2, GJA1, SATB2, MASP1, IFT43, DISP1, IL11RA, IFT122, VAX1, ALX1, BMP4, GDF3, AXIN2, NFKBIA, CDSN, EDA, IRF6, SPECC1L, LRP2, CDC45, MEGF8, ERF, TCF12, ALX3, FOXE1, SF3B4, EDAR, WNT10A, ADAMTSL4, EDARADD, AMELX, MEOX1, EDN1, PLCB4, DLX3, GRHL3, FAM83H, MSX1, PAX9, LRP6, LTBP3, ENAM, NECTIN1, KLK4, MMP20, ODAPH, NOG, WDR72, SMOC2, KDM1A, SUMO1, TBX22, DLX4, EIF4A3, TSHZ1, HOXA2, PAX7, UBB Specificity 1 % Genes 50 %
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 50 %
AMELX. By Fulgent Genetics Fulgent Genetics in United States. AMELX Specificity 100 % Genes 50 %
X-chromosome High Resolution microarray analysis. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States. ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...) View the complete list with 140 more genes Panel GTR000507942 complete gene list ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, IL2RG, AR, ARX, CDKL5, DMD, GLA, IDS, IKBKG, PCDH19, PLP1, PORCN, POU3F4, SRY, HDAC8, G6PD, CYBB, WAS, BTK, GJB1, UBA1, NR0B1, SHOX, ANOS1, AVPR2, COL4A5, L1CAM, FHL1, UBQLN2, MTM1, EMD, SLC35A2, ALG13, DCX, PQBP1, FLNA, SRPX2, WDR45, PIGA, OFD1, SMS, ATRX, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, RAB39B, PRPS1, SMPX, MID1, MED12, AP1S2, NLGN4X, NLGN3, GATA1, PHF8, IGBP1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, ZC4H2, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KDM6A, CSF2RA, PGK1, SH2D1A, EFNB1, F9, F8, ZIC3, XIAP, XK, EDA, CCNQ, ARSE, MAMLD1, ZNF674, IGSF1, CLCN5, ATP2B3, STS, POLA1, CFP, AMELX, TRAPPC2, VMA21, CHRDL1, COX7B, TBX22, SLC6A14, SAT1, SERPINA7 Specificity 1 % Genes 50 %
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 50 %
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 50 %
ARHGAP6. By Fulgent Genetics Fulgent Genetics in United States. ARHGAP6 Specificity 100 % Genes 50 %

Alternate names

Amelogenesis Imperfecta, Type Ie; Ai1e Is also known as amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1, amelogenesis imperfecta, hypomaturation type, with snow-capped teeth, amelogenesis imperfecta, x-linked 1;aih1, enamel hypoplasia, x-linked.

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