Congenital Contractural Arachnodactyly
Watchlist
Retrieved
2022-04-26
Source
Trials
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Genes
FBN2,
TNNI2,
ECEL1,
FBN1,
AKT1,
EGFR,
PIK3CA,
IL6,
MIR21,
PIK3CG,
PIK3CD,
PIK3CB,
ERBB2,
BCL2,
CD274,
PTGS2,
TNF,
IDH1,
HDAC3,
STAT3,
TP53,
EZH2,
CASP3,
CCK,
BAP1,
ABCB1,
YAP1,
MCL1,
ELAVL2,
KRAS
FBN2,
TNNI2,
ECEL1,
FBN1,
AKT1,
EGFR,
PIK3CA,
IL6,
MIR21,
PIK3CG,
PIK3CD,
PIK3CB,
ERBB2,
BCL2,
CD274,
PTGS2,
TNF,
IDH1,
HDAC3,
STAT3,
TP53,
EZH2,
CASP3,
CCK,
BAP1,
ABCB1,
YAP1,
MCL1,
ELAVL2,
KRAS,
IDH2,
CTNNB1,
CEACAM5,
VEGFA,
VIM,
TGFB1,
FGFR2,
PTK2B,
GDE1,
NFE2L2,
VDR,
SMAD4,
TNFSF10,
FBXW7,
KRT19,
IL10,
PPFIBP2,
CEACAM7,
FOXM1,
CEACAM3,
MTCO2P12,
PSG2,
S100A9,
GATA6,
POSTN,
NEAT1,
PVT1,
PSMD10,
COX2,
ARID1A,
MAPK3,
PRKAR1A,
GABPA,
MET,
RECK,
IFI27,
MMP9,
HMOX1,
IFNG,
HSP90AA1,
TP73-AS1,
LDHA,
LCN2,
SLC7A5,
RIPK1,
CXCR4,
ABCC3,
AFAP1-AS1,
SNAI1,
MTHFR,
CBX5,
SOX4,
S100A8,
ROS1,
STK11,
CD163,
MAP2K7,
MAPK1,
PPP3CA,
PPIA,
POMC,
PLK1,
DICER1,
TFF2,
MUC1,
TGFBR2,
SOCS3,
TLR4,
SMUG1,
SNHG1,
PDGFRB,
TP73,
PDGFA,
SERPINB2,
PROM1,
NR1H4,
NOTCH1,
OPCML,
SPP1,
MIR34A,
NQO1,
CCAT1,
MIR485,
CD44,
MIR494,
MIR200A,
MIR140,
MIR192,
DPYD,
CDK4,
MIR186,
BAX,
MIR122,
EPHB2,
CASP9,
MIR150,
CCND1,
CDH1,
BSG,
FGFR1,
AKT2,
SOX2-OT,
NNT-AS1,
MIR210,
GGTLC5P,
POU5F1P4,
UCA1,
HTATIP2,
ZNF423,
TBC1D9,
XRCC6P5,
MIR424,
MIR370,
SIRT3,
AGR2,
ZNRD2,
KAT5,
SEMA4D,
TACC3,
GPNMB,
DCTN6,
CCL27,
SIRT2,
MIR378A,
FILIP1L,
CILK1,
MIR490,
ZHX1,
MORC2,
ANXA10,
POTEM,
POU5F1P3,
ACOT7,
WDHD1,
PSIP1,
METAP2,
FLVCR1-DT,
KCNQ1OT1,
MALT1,
KLRK1,
RASSF1,
ACTBL2,
PAK4,
MSLN,
SYCE1L,
LOXL1-AS1,
LMCD1-AS1,
TMED7-TICAM2,
F2RL3,
MCM3AP,
SPHK1,
APLN,
MICA,
NRP1,
CES2,
TNFRSF10C,
KLRC4-KLRK1,
SPRY4-IT1,
PSC,
OPCML-IT1,
EED,
PGR-AS1,
PANDAR,
CUL4B,
CCAT2,
CDR1-AS,
H3P23,
MIR877,
MIR876,
GGTLC4P,
DCAF1,
TSPAN1,
SRA1,
POTEKP,
MIR612,
FGF19,
KLHL21,
SETDB1,
MAML1,
MIR622,
SETD1A,
ABCG1,
MTA1,
TP53I3,
PTGES,
FHL5,
MIR637,
GGTLC3,
S1PR2,
GGT2,
PTTG1,
TMSB10,
HULC,
MIR551B,
MIR25,
MIR99A,
MIR106B,
ARHGAP24,
LPAL2,
FENDRR,
LINC01061,
MIRLET7C,
MIR106A,
TET1,
PDGFD,
ASRGL1,
ZNF703,
NEIL1,
HSDL2,
MIR10A,
ZSCAN18,
HIF3A,
SOX17,
PDF,
AFAP1,
SELENOK,
KMT2C,
HAMP,
KLHL1,
C3P1,
RPAIN,
MIR30E,
GATA5,
FFAR4,
RAB7B,
TRIM59,
PWAR4,
DDX53,
GPBAR1,
PDIK1L,
IL34,
PRIMA1,
LINC00261,
OSCP1,
DPY30,
LRG1,
OSBPL8,
OSBPL7,
DNER,
WDR20,
IL33,
MIR22HG,
TICAM2,
LINC-PINT,
ACCS,
NR0B2,
DANCR,
MIR126,
WWTR1,
ERO1A,
MIR195,
MCTS1,
MCAT,
PDLIM3,
MIR200B,
PDCD4,
SALL3,
ATRNL1,
MIR200C,
DNAJB5,
MIR130A,
OSBP2,
PLA2G15,
MIR203A,
SLC7A11,
MIR221,
CA14,
MACC1,
SUZ12,
MIR29A,
MIR30D,
IL22,
TMED7,
PI15,
PRLH,
MIR132,
ACKR3,
ACSS2,
MEG3,
QRSL1,
CCDC25,
NAT10,
PBRM1,
MIR142,
MIR144,
AKIRIN2,
TUG1,
RNF43,
CDHR2,
MIR15A,
TREM1,
SRRT,
MIR191,
SIRT7,
ZBTB7A,
TNNI3K,
AICDA,
NAT1,
HMGA2,
GLS,
GGT1,
GATA1,
FUT1,
FKBP4,
FGFR4,
FGF10,
FGF7,
FCGR3B,
FCGR3A,
FBP1,
FABP4,
F2RL1,
F2R,
ETV4,
ESD,
EREG,
ERBB4,
SLC29A1,
ENO1,
EMP1,
ELK1,
EIF4EBP1,
EFNA1,
ECM1,
EBF1,
GPC3,
GNAS,
DNMT1,
GNB3,
IL13,
CXCL8,
IL1B,
IGFBP7,
IGF2,
IGF1,
ICAM1,
DNAJB1,
HES1,
AGFG1,
HOXD9,
HNRNPK,
ONECUT1,
HMGA1,
HK2,
HIF1A,
HHEX,
HGF,
HGD,
HDAC2,
GTF2H4,
GSK3B,
GRN,
GPT,
GP2,
E2F2,
CYP19A1,
PDX1,
BRAF,
ATHS,
ASS1,
ASPH,
APRT,
BIRC5,
XIAP,
APEX1,
ANXA5,
ANXA1,
ANG,
ALPP,
ALOX15,
ALOX5,
ALDH1A3,
ALB,
AGXT,
APLNR,
AGTR2,
PARP1,
ACTN4,
ACTG2,
ACTG1,
ACTB,
ABCA1,
SERPINA3,
BCL9,
CASP8,
CYP1A2,
CAT,
CTSL,
CTSB,
CSNK2B,
CSF1R,
CRYBB2,
COL11A2,
COL6A3,
COL1A2,
COL1A1,
PLK3,
ABCC2,
CMA1,
CLTC,
CHI3L1,
CDX2,
CDKN2A,
CDKN1A,
CDK7,
CDK1,
CD47,
CD14,
CCT,
CCND2,
CCNB1,
RUNX3,
IL17A,
ITGB4,
MFAP5,
STAT1,
SOX9,
SOX2,
SOD2,
SLPI,
SLC22A3,
SLC22A1,
SLC16A1,
SLC15A1,
SLC4A1,
SLC3A2,
SKP2,
SFRP1,
CXCL12,
SCP2,
S100A6,
S100A2,
ROBO2,
RARG,
RARB,
RAC1,
PVR,
PTPN11,
PTPN6,
PTEN,
PSMD9,
NAT2,
TAC1,
PRKAR2B,
ADAM17,
NR4A3,
PLA2G7,
RAB7A,
PRDM2,
XRCC1,
VCL,
UNG,
UCHL1,
TYMS,
TXN,
TWIST1,
TPT1,
TPM1,
TPD52,
TIMP3,
TGFB2,
TFRC,
TFF3,
TFF1,
TF,
TERC,
TEK,
TCF21,
ZEB1,
TACR1,
MAPK8,
PPARG,
ITPR3,
GADD45B,
MUTYH,
MUC5AC,
MUC2,
NUDT1,
MST1R,
MRC1,
KMT2A,
MGMT,
MFAP1,
MEN1,
MARCKS,
EPCAM,
TACSTD2,
LUM,
LTA,
LOXL2,
LOX,
LGALS3,
LGALS1,
LCK,
LASP1,
RPSA,
LAMC2,
LAMP1,
KDR,
MYC,
NF2,
POU5F1,
NFKB2,
POU2F1,
POLD1,
SEPTIN4,
PLG,
PLAU,
PLA2G4A,
PKM,
PKD2,
PEG3,
PECAM1,
PDR,
PDK3,
PDGFRA,
PDCD1,
PCNA,
PAWR,
PAK3,
SERPINE1,
PAFAH1B1,
ORM2,
OGG1,
NTS,
YBX1,
NOTCH3,
NOS3,
H3P42
Drugs
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Registered!
Congenital contractural arachnodactyly (CCA) is a genetic disorder that is characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears; and curvature of the spine (kyphoscoliosis). Enlargement (dilation) of the aorta and other features might also be present in some affected people. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene. Treatment includes physical therapy or surgery for joint contractures, bracing and/or surgery for kyphoscoliosis, and standard management of aortic root dilation.