Details of Disease

General Information of Disease (ID: DISMQHL3)

Disease Name Cryohydrocytosis
Synonyms pseudohyperkalemia Cardiff; cryohydrocytosis; stomatocytosis, cold-sensitive; CHC; hereditary cryohydrocytosis with normal stomatin
Definition
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.
Disease Hierarchy
DIS4TC4I: Hereditary stomatocytosis
DISMQHL3: Cryohydrocytosis
Disease Identifiers
MONDO ID
MONDO_0008494
MESH ID
C535827
UMLS CUI
C1861453
OMIM ID
185020
MedGen ID
396137
Orphanet ID
398088

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 23 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IL21 TT9QEJ6 Limited Biomarker [1]
PNPLA3 TTEUAEH Limited Genetic Variation [2]
RBP4 TT0C8BY Limited Genetic Variation [3]
TLR7 TTRJ1K4 Limited Biomarker [4]
GEM TTAZF9M moderate Genetic Variation [5]
SCARB1 TTRE324 moderate Genetic Variation [6]
ABCB11 TTUXCAF Strong Genetic Variation [7]
ADIPOQ TTXKA7D Strong Altered Expression [8]
AFP TTCFEA1 Strong Biomarker [9]
CMKLR1 TT4UGZL Strong Altered Expression [10]
CXCL10 TTQOVYA Strong Biomarker [11]
DDX5 TTZKPVC Strong Genetic Variation [12]
FCAR TTGUJAO Strong Biomarker [13]
GOT1 TTU507L Strong Altered Expression [14]
IFNL1 TTM624L Strong Biomarker [4]
IMPDH2 TTTB4UP Strong Biomarker [15]
LALBA TTBRLU3 Strong Biomarker [16]
PPP2CA TTHTKNY Strong Altered Expression [17]
RNF34 TTEWDK1 Strong Biomarker [18]
RNF7 TTODWGT Strong Biomarker [19]
SLC40A1 TT6Y1PG Strong Altered Expression [20]
TLR3 TTD24Y0 Strong Genetic Variation [21]
TM6SF2 TTE1OHM Strong Genetic Variation [22]
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⏷ Show the Full List of 23 DTT(s)
This Disease Is Related to 3 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC4A1 DTB0Q3P Supportive Autosomal dominant [23]
SLC4A1 DTB0Q3P Strong Biomarker [24]
SLC4A11 DTH2J1G Strong Genetic Variation [25]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP2R1 DEBIHM3 Strong Genetic Variation [26]
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This Disease Is Related to 33 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
A2ML1 OTWNUXIS Limited Genetic Variation [27]
CLTC OTBFASMA Limited Biomarker [24]
ITPA OTQ47WVR Limited Genetic Variation [28]
LGALS3BP OT9AGQKH Limited Altered Expression [29]
NUDT1 OTZSES3W Limited Genetic Variation [30]
PAEP OTQA0NV4 Limited Genetic Variation [31]
RALGAPB OTY8CGA3 Limited Genetic Variation [27]
STOM OTC8R6EH Limited Genetic Variation [32]
HLA-DQA2 OT1DH0N9 Disputed Biomarker [33]
SLC4A1 OT3EFUK8 Supportive Autosomal dominant [23]
KIR3DL1 OTPOSXFX moderate Genetic Variation [5]
TLL1 OTK9NM7G moderate Genetic Variation [34]
CISD3 OT0MM1MW Strong Genetic Variation [35]
CYBRD1 OTUTVBES Strong Biomarker [36]
DBP OTE0W7LN Strong Genetic Variation [3]
FBP1 OTQBANEP Strong Altered Expression [37]
GALNT8 OT05BKVP Strong Genetic Variation [38]
IER3 OTZJI5FZ Strong Biomarker [39]
IFNL2 OT4BMJF7 Strong Altered Expression [40]
IFNLR1 OTWWWK45 Strong Altered Expression [41]
IL10RA OTOX3D1D Strong Genetic Variation [42]
KLF12 OTVH4KD4 Strong Genetic Variation [25]
MAVS OTTQ0J64 Strong Altered Expression [43]
MX1 OT6X8G5T Strong Genetic Variation [44]
NR1D2 OT9CVF41 Strong Genetic Variation [45]
POLG2 OTDBMZJB Strong Genetic Variation [12]
RIT2 OTSNYG0D Strong Genetic Variation [46]
SEMA3C OTEGUY7F Strong Biomarker [47]
SEMA5A OTUOIOJV Strong Biomarker [47]
SEMA6D OTU0UAZS Strong Biomarker [47]
SIKE1 OT5O11J0 Strong Altered Expression [48]
SPEN OT37A2MD Strong Genetic Variation [35]
TAPBP OTL81AVZ Strong Genetic Variation [49]
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⏷ Show the Full List of 33 DOT(s)

References

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24 Clathrin heavy chain phosphorylated at T606 plays a role in proper cell division.Cell Cycle. 2019 Aug;18(16):1976-1994. doi: 10.1080/15384101.2019.1637201. Epub 2019 Jul 4.
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27 CD24 Ala57Val polymorphism is associated with spontaneous viral clearance in the HCV-infected Chinese population.Liver Int. 2015 Mar;35(3):786-94. doi: 10.1111/liv.12506. Epub 2014 Mar 19.
28 Tolerability of Erythrocyte Ribavirin Triphosphate Concentrations Depends on the ITPA Genotype.Ther Drug Monit. 2019 Aug;41(4):497-502. doi: 10.1097/FTD.0000000000000626.
29 Clinical Evaluation of Hepatocarcinogenesis and Outcome Using a Novel Glycobiomarker Wisteria floribunda Agglutinin-Positive Mac-2 Binding Protein (WFA(+)-M2BP) in Chronic Hepatitis C with Advanced Fibrosis.Jpn J Infect Dis. 2018 May 24;71(3):177-183. doi: 10.7883/yoken.JJID.2017.459. Epub 2018 Feb 28.
30 An intronic single nucleotide polymorphism in the MUTYH gene is associated with increased risk for HCV-induced hepatocellular carcinoma.Free Radic Biol Med. 2018 Dec;129:88-96. doi: 10.1016/j.freeradbiomed.2018.09.010. Epub 2018 Sep 13.
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32 The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.Front Physiol. 2018 Apr 16;9:367. doi: 10.3389/fphys.2018.00367. eCollection 2018.
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39 T lymphocytes from chronic HCV-infected patients are primed for activation-induced apoptosis and express unique pro-apoptotic gene signature.PLoS One. 2013 Oct 10;8(10):e77008. doi: 10.1371/journal.pone.0077008. eCollection 2013.
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