Hereditary Cryohydrocytosis With Normal Stomatin
Watchlist
Retrieved
2021-01-23
Source
Trials
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Genes
SLC4A1,
IFNA1,
IFNL3,
PAEP,
IL10,
IFNA13,
IFNA2,
GPT,
PNPLA3,
IFNL4,
CXCL10,
MIR122,
ADIPOQ,
FBL,
TNF,
IFNG,
AFP,
HFE,
IL6,
TLR3,
LEP,
STOM,
LGALS3BP,
TLR7,
MTHFR,
TM6SF2,
RBP4,
HLA-C,
VDR,
TP53
SLC4A1,
IFNA1,
IFNL3,
PAEP,
IL10,
IFNA13,
IFNA2,
GPT,
PNPLA3,
IFNL4,
CXCL10,
MIR122,
ADIPOQ,
FBL,
TNF,
IFNG,
AFP,
HFE,
IL6,
TLR3,
LEP,
STOM,
LGALS3BP,
TLR7,
MTHFR,
TM6SF2,
RBP4,
HLA-C,
VDR,
TP53,
HAMP,
IL21,
ITPA,
IGF1,
CLTC,
SCARB1,
SOCS1,
KIR3DL1,
IL22,
IL15,
MIR146A,
IFNB1,
APOB,
TLR4,
HLA-DRB1,
HLA-DQA1,
MIR145,
HLA-B,
HLA-A,
SOCS3,
UGT1A1,
SLC2A1,
TLR2,
GEM,
TLL1,
SEMA3C,
RNF7,
NR1D2,
MIR21,
MIR324,
AKT3,
MIR27A,
WDHD1,
EIF2AK3,
POLG2,
USP18,
MIR19A,
MIR199A2,
KLF12,
GDF15,
TNFRSF1A,
MIR221,
DDX58,
MIR224,
IER3,
NR0B2,
SEMA5A,
VEGFA,
MIR296,
PGR-AS1,
ABCB11,
VCAM1,
SLC33A1,
TNFSF4,
TRAF6,
MIR34A,
HEIH,
SPEN,
IFNL2,
GALNT8,
SIKE1,
MAVS,
MIR106A,
CISD3,
IFIH1,
MBOAT7,
CYBRD1,
SEMA6D,
RNF34,
SLC17A5,
IFNL1,
GGT2,
GGTLC3,
SLC4A11,
CYP2R1,
RBM45,
A2ML1,
AICDA,
GGTLC4P,
RALGAPB,
MIR130A,
TBK1,
TBX21,
MIR199A1,
SLC40A1,
IFNLR1,
IL21R,
GOLM1,
MIR195,
MIR1307,
TLR8,
MIR192,
GHRL,
RTEL1,
GGTLC5P,
CD24,
MIR602,
PLIN2,
TGFB1,
CHI3L1,
CMKLR1,
CNR1,
CNR2,
CPT1A,
CRP,
CSF2,
CST3,
CTLA4,
CYP2E1,
DBP,
DDX5,
DPP4,
EPO,
ETFA,
ETV6,
FBP1,
FCAR,
FOXM1,
GGT1,
CCR5,
CD69,
TGFA,
CD38,
AGTR1,
ANGPT2,
APOA1,
APOE,
APP,
AQP4,
ARG1,
ATM,
BCL2,
BCL2A1,
BCL6,
BGN,
VPS51,
CAD,
CASP1,
CD247,
CD14,
CD27,
CD34,
GPC3,
GOT1,
GOT2,
CXCR3,
NUDT1,
MTTP,
MUC1,
MX1,
NCAM1,
OGG1,
PECAM1,
PIK3R2,
PPP2CA,
PTPA,
PLAAT4,
RIT2,
CCL4,
CCL22,
CXCL11,
SLC6A4,
SPP1,
STAT1,
TAPBP,
MBL2,
SMAD4,
LPL,
IL17A,
HBB,
HLA-DQA2,
IGF1R,
IL4,
IL5,
CXCR2,
IL10RA,
TNFRSF9,
IMPDH2,
LGALS9,
ITGAE,
JUN,
KDR,
L1CAM,
LAG3,
LALBA,
LAMC2,
LBP,
RARRES2
Drugs
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Registered!
Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.