TESSUTO CONNETIVO E OSSA
Displasia frontometafisaria
FLNA, MAP3K7, TAB2.
Displasia cleidocranica (e varianti)
FIG4, MSX2, RUNX2.
Ectopia lentis/displasia acromicrica
ADAMTS10, ADAMTS17, ADAMTSL2, ADAMTSL4, CBS, FBN1, LTBP2, LTBP3, SMAD4, TRIM37.
Sindrome LMX1B (sindrome nail-patella)
LMX1B.
Gene TP63 (ectrodattilia)
TP63.
Malattia esostosante/encondromatosi
EXT1, EXT2, IDH1, IDH2, PTPN11.
Miopatia con ipermobilità articolare
COL12A1, COL6A1, COL6A2, COL6A3, FKBP14, MYH7, RYR1, SEPN1, SGCB.
Patologia del metabolismo osteo-calcico
ANK, AIRE, AP2S1, CASR, CDC73, CDKN1B, CLDN16, CYP24A1, GALNT3, GATA3, GCM2, GNA11, GNAS, GNL1, HSPG2, KL, MEN1, OPN, PHOSPHO1, PTH, RET, SAMD9, TBCE, TBX1, TRPM6, WNT6.
Pseudoxantoma elastico (e varianti)
ABCC6, ENPP1, GGCX, NT5E.
Rachitismo ereditario
CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, PHEX, SLC34A3, VDR.
Sindrome con cutis laxa
ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, EFEMP1, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PTDSS1, PYCR1, RIN2.
Sindrome con fragilità ossea
ANO5, ALPL, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DKK1, EN1, FAM46A, FKBP10, FKBP14, IFITM5, LRP5, MBTPS2, P3H1, P4HB, PLOD1, PLOD2, PLOD3, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC39A13, SPARC, SP7, TMEM38B, WNT1, YY1AP1.
Sindrome di Ehlers-Danlos
ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469.
CUORE E VASI
Angiomi cavernosi cerebrali
KRIT1, MGC4607, PDCD10.
Aortopatia ereditaria/sindrome con habitus marfanoide
ACTA2, BGN, CBS, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, DLG4, EFEMP2, ELN, EMILIN1, FBN1, FBN2, FLNA, FOXE3, GATA5, LOX, LTBP3, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMS, TAB2, TBX1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, ZDHHC9.
Cardiomiopatia o aritmia ereditaria
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CACNA1C, CACNB2, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, DES, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL2, GATAD1, GLA, GPD1L, ILK, JPH2, JUP, KCNE3, KCNH2, KCNJ2, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN10A, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SNTA, TCAP, TGFB, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL.
RASopatia
BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2.
Valvulopatia cardiaca
ARHGAP31, ARSB, BMP2, CHST3, DCHS1, GATA4, HCN4, HGD, IDUA, YY1AP1, KANSL1, MYH7, PLD1, ROBO4, SGO(L)1, SH3PXD2B, SMAD6, TBX1, TBX5.
Vasculopatia cerebrale monogenica
CECR1, COL4A1, COL4A2, GLA, HTRA1, NOTCH3, YY1AP1.
SINDROMI ONCOLOGICHE
Carcinoma mammella/ovaio (BRCA)
BRCA1, BRCA2.
Carcinoma mammella (geni rari)
ATM, CHEK2, PALB2, PTEN, STK11, TP53.
Carcinoma gastrointestinale familiare
APC, BMPR1A, CDH1, DICER1, KIT, MLH1, MSH2, MSH6, MUTYH, NTHL1, PDGFRA, POLE, POLD1, PTEN, SMAD4, STK11.
Carcinoma ovaio (geni rari)
BRIP1, MLH1, MSH2, MSH6, RAD51C, RAD51D.
Carcinoma renale familiare
FH, HNF1A, HNF1B, FLCN, VHL.
Melanoma familiare
ACD, BAP1, CDKN2A, CDK4, MITF, POT1, TERF2IP, TERT (promotore).
Neurofibromatosi
LTZR1, NF1, NF2, SMARCB1, SPRED1.
Paraganglioma/Feocromocitoma/MEN2
MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL.
Sindrome del nevo basocellulare
PTCH1, PTCH2, SUFU.
NEUROSVILUPPO E ORGANI DI SENSO
Cromatinopatia
ACTB, ACTG1, APC2, ARID1A, ARID1B, ARID2, ASXL1, ATRX, BCOR, BRD4, CDKN1C, CHD2, CHD7, CHD8, CHMP1A, CREBBP, CTCF, DNMT1, DNMT3A, DNMT3B, DPF2, EED, EHMT1, EP300, EZH2, FTO, HCFC1, HDAC4, HDAC8, HLCS, HNRNPK, HUWE1, KANSL1, KAT6B, KDM5C, KDM6A, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, MBD5, MED12, MED17, NFIX, NIPBL, NSD1, NSD1, PHF6, PHF8, POGZ, RAD21, RAI1, RAP1A, RAP1B, RPS6KA3, SALL1, SEMA3E, SETD2, SETD5, SKI, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SRCAP, ZBTB24.
Disturbo del neurosviluppo
ANKRD11, ARX, ASXL1, ASXL2, ASXL3, ATAD3A, AUTS2, BRPF1, CASK, CDH15, CDH5, CDH8, CHL1, CNTN4, CNTN5, CNTN6, CNTNAP2, CTNNB1, DDX3X, DHCR7, DLG3, DOCK8, DYRK1A, EBF3, EHMT1, FGD1, FOXP1, FOXP2, GATAD2B, GDI1, GRIA3, GRIK2, GRIN2A, GRIN2B, IL1RAPL1, IQSEC2, JMJD1C, KANSL1, KAT6A, KATNAL1, KDM5C, KIAA2022, KIRREL3, MBD5, MECP2, MED12, MED13L, MED23, MEF2C, MID1, NACC1, NLGN3, NLGN4X, NRXN1, OPHN1, OTUD6B, PAK3, PCDH10, PCDH19, PPM1D, PSMD12, PTCHD1, PTEN, RAB39B, RAI1, RERE, SATB2, SETBP1, SETD5, SHANK3, SLC6A8, SLC9A6, SON, SRPX2, STAG1, STAG2, SYNGAP1, SYP, TAF1, TBCK, TBL1XR1, TBR1, TCF4, TECR, TRIO, TRIP12, TSPAN7, UBE2A, UPF3B, USP9X, YWHAE, YY1, ZDHHC9, ZEB2.
Epilessia ereditaria
ADSL, ALDH7A1, ARHGEF, ARX, ATP1A2, ATP6AP2, CACNA1H, CACNB4, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTN4, CNTNAP2, CPA6, CRBN, CSTB, CTSD, DNAJC5, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRD, GABRG2, GAMT, GATM, GOSR2, GRIN2A, GRIN2B, IER3IP1, KANSL1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCTD7, LGI1, LIAS, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRPX2, ST3GAL3, STXBP1, SYN1, TBC1D24, TCF4, TMLHE, TPP1, TSC1, TSC2, TSEN2, UBE3A, ZEB2.
Ipoacusia ereditaria (geni rari)
ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ATP2B2, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYL1, CRYM, DCDC2, DFNA5, DIABLO, DIAPH1, DIAPH3, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FAM65B, FGF3, FGFR1, FGFR2, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOC653786, LOXHD1, LOXL3, LRTOMT, MARVELD2, MCM2, MET, MiR-96, MITF, MSRB3, MTRNR1, MTTL1, MTTS1, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PJVK, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, ROR1, S1PR2, SERPINB6, SIX1, SIX5, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLITRK6, SMPX, SNAI2, SOX10, STRC, STRC (promotore), STRCCATSPER2, STRCP1 (pseudogene di STRC), SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TECTB, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, TWNK, USH1C, USH1G, USH2A, WFS1, WHRN.
APPARATO GENITOURINARIO
Cistinuria
SLC3A1, SLC7A9.
Disturbo dello sviluppo sessuale
AKR1C2, AKR1C4, AMH, AMHR2, AR, ARX, ATF3, BMP15, CBX2, CYB5A, CYP11B1, CYP17A1, CYP19A1, DHCR7, DHH, ESR1, ESR2, FOXL2, HOXA13, HSD17B3, HSD3B2, INSL3, LHB, LHCGR, MAMLD1, MAP3K1, NR2F2, NR3C1, NR5A1, NUP107, POR, SRD5A2, RSPO1, RXFP2, SOX9, SRY, STAR, TSPYL1, WNT4, WT1, ZFPM2, ZNRF3.
Rene policistico autosomico dominante
DNAJB11, GANAB, PKD1 (regione non duplicata), PKD2.
Rene policistico autosomico recessivo
DZIP1L, PKHD1.
ALTRO
Albinismo/piebaldismo isolato o sindromico
AP3B1, AP3D1, BLM, BLOC1S3, BLOC1S6, C10orf11 (LRMDA), DTNBP1, EDN3, EDNRB, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, KITLG, LYST, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYRP1, TYR.
Iperferritinemia ereditaria/emocromatosi
DGUOK, FTL, HAMP, HFE, HJV, SLC40A1, TFR2.
Neuropatia delle piccole fibre
COL6A5, GLA, SCN9A, SCN10A, SCN11A, TTR.
Sindrome autoinfiammatoria
LPIN2, MEFV, MVK, NLRP3, NLRP12, NOD2, PSTPIP1, TNFRSF1A.
Sindrome autoinfiammatoria (varianti rare)
CARD14, CCR1, CECR1, ERAP1, IL10RA, IL10RB, IL1RN, KLRC4, NLRC4, PLCG2, PSMA3, PSMB4, PSMB8, PSMB9, SH3BP2, SLC29A3, TTR.
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I commenti sono ben accetti, purché non vengano meno le norme del buon senso.
Grazie
Lo Staff / The Staff
American Europen Medical Center
(americaneuropeanmedicalcenter.blogspot.com)
Direttore del sito : Daniel Viennese