Hutchinson-Gilford Progeria Syndrome

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

LMNA, ZMPSTE24, ANK3, PYCR1, SPRTN, SIRT6, ROBO3, ERCC4, WRN, XPA, ATM, H2AX, NAT10, BANF1, TP53, SUN1, GGT1, GH1, LMNB1, ICMT, ING1, FOXM1, PLA2G1B, YWHAZ, SOX2, MTOR, GGTLC4P, PLB1, ERCC2, GGT2

LMNA, ZMPSTE24, ANK3, PYCR1, SPRTN, SIRT6, ROBO3, ERCC4, WRN, XPA, ATM, H2AX, NAT10, BANF1, TP53, SUN1, GGT1, GH1, LMNB1, ICMT, ING1, FOXM1, PLA2G1B, YWHAZ, SOX2, MTOR, GGTLC4P, PLB1, ERCC2, GGT2, GGTLC3, BUB1B, LMNB2, GGTLC5P, AMPD1, SMURF2, GOLGA6A, GTF2H5, FGF23, POU5F1P3, XPO1, VDR, POU5F1P4, KLF4, TPR, TP53BP1, TIMP1, SREBF1, SQSTM1, ADIPOQ, KL, HTRA2, EHMT1, CTC1, RCBTB1, SRSF5, SOST, SETD2, MGME1, GGCT, SIRT1, TWIST2, PLA2R1, HFM1, LEMD2, EDIL3, SRSF6, A2M, SRSF1, CD55, GLB1, GJA1, GFAP, GABPA, FDPS, ERCC6, ERCC1, ELN, NQO1, DES, CTNNB1, ROS1, CRP, CDKN2A, CDH5, BTF3P11, BRCA1, BGLAP, APRT, ALPL, AKT1, ACAN, SFN, HDAC2, HIP1, HMOX1, RARB, RAN, RAD51, ALDH18A1, ACTB, PRKAB1, PRKAA2, PRKAA1, PRELP, POU5F1, PLG, PECAM1, TNFRSF11B, NFE2L2, GADD45B, MFAP1, MDM2, MXD1, TNPO1, KCNMA1, IGF1, PRPS1

Drugs

Lonafarnib, Pravastatin / zoledronic acid

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Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).