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Abnormality of the coagulation cascade

MedGen UID:
604
Concept ID:
C0005779
Disease or Syndrome
Synonyms: Coagulopathy
SNOMED CT: Blood coagulation disorder (64779008); Coagulation disorder (64779008); Blood clotting disorder (64779008); Coagulopathy (64779008); Disorder of hemostatic system (362970003); Clotting disorder (64779008); Disorder of hemostasis (64779008)
 
HPO: HP:0003256

Definition

Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system [from SNOMED CT]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the coagulation cascade

Conditions with this feature

Malignant hyperthermia susceptibility
MedGen UID:
9867
Concept ID:
C0024591
Disease or Syndrome
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances release calcium stores from the sarcoplasmic reticulum and may promote entry of calcium from the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience: acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some affected individuals will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
King Denborough syndrome
MedGen UID:
327082
Concept ID:
C1840365
Disease or Syndrome
Globulin anomaly involving beta (2a)-globulin
MedGen UID:
330741
Concept ID:
C1842009
Disease or Syndrome
Bile acid synthesis defect, congenital, 1
MedGen UID:
335883
Concept ID:
C1843116
Disease or Syndrome
Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. In most forms of the disorder, there is a favorable response to oral bile acid therapy (summary by Cheng et al., 2003). Genetic Heterogeneity of Congenital Defects in Bile Acid Synthesis There are several disorders that result from defects in bile acid synthesis. See CBAS2 (235555), caused by mutation in the delta(4)-3-oxosteroid 5-beta-reductase gene (AKR1D1; 604741) on chromosome 7q33; CBAS3 (613812), caused by mutation in the 7-alpha hydroxylase gene (CYP7B1; 603711) on chromosome 8q12; CBAS4 (214950), caused by mutation in the AMACR gene (604489) on chromosome 5p13; CBAS5 (616278), caused by mutation in the ABCD3 gene (170995) on chromosome 1p21; and CBAS6 (617308), caused by mutation in the ACOX2 gene (601641) on chromosome 3p14. See also progressive familial intrahepatic cholestasis (PFIC1; 211600), which has a similar phenotype.
Periventricular nodular heterotopia 1
MedGen UID:
376309
Concept ID:
C1848213
Congenital Abnormality
FLNA-related periventricular nodular heterotopia (PVNH), a neuronal migration disorder, is characterized by the presence of uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles. Affected individuals are predominantly heterozygous females; males most often show early lethality. Affected females present with seizures at an average age of 14-15 years; intelligence ranges from normal to borderline. The risk for cardiovascular disease, stroke, and other vascular/coagulation problems appears to be increased.
Mitochondrial complex III deficiency
MedGen UID:
377658
Concept ID:
C1852372
Disease or Syndrome
Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). Genetic Heterogeneity of Mitochondrial Complex III Deficiency Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24; MC3DN7 (615824), caused by mutation in the UQCC2 gene (614461) on chromosome 6p21; MC3DN8 (615838), caused by mutation in the LYRM7 gene (615831) on chromosome 5q23; and MC3DN9 (616111), caused by mutation in the UQCC3 gene (616097) on chromosome 11q12. See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.
Hypervitaminosis A
MedGen UID:
343435
Concept ID:
C1855883
Finding
Bile acid synthesis defect, congenital, 2
MedGen UID:
383840
Concept ID:
C1856127
Disease or Syndrome
Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced.The signs and symptoms of congenital bile acid synthesis defect type 2 often develop in infancy. Affected infants usually have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is another feature of congenital bile acid synthesis defect type 2. As the condition progresses, affected individuals can develop liver abnormalities including inflammation or chronic liver disease (cirrhosis). Some individuals with congenital bile acid synthesis defect type 2 cannot absorb certain fat-soluble vitamins, which can result in softening and weakening of the bones (rickets) or problems with blood clotting that lead to prolonged bleeding.If left untreated, congenital bile acid synthesis defect type 2 typically leads to cirrhosis and death in childhood.
Bile acid synthesis defect, congenital, 4
MedGen UID:
388039
Concept ID:
C1858328
Disease or Syndrome
Congenital disorder of glycosylation type 1N
MedGen UID:
383145
Concept ID:
C2677590
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065).
Liver failure acute infantile
MedGen UID:
414410
Concept ID:
C2751567
Disease or Syndrome
Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009). See also transient infantile mitochondrial myopathy (MMIT; 500009), which is a similar disorder. A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (251880). See ILFS1 (615438) for information on syndromic infantile liver failure.
Bile acid synthesis defect, congenital, 3
MedGen UID:
462497
Concept ID:
C3151147
Disease or Syndrome
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
MedGen UID:
766511
Concept ID:
C3553597
Disease or Syndrome
MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like) syndrome is characterized in neonates by hypoglycemia and a sepsis-like clinical picture for which no infectious agent can be found. During the first year of life feeding problems, failure to thrive, and/or truncal hypotonia become evident; many infants experience (transient) liver involvement ranging from undulating transaminases to prolonged hyperbilirubinemia and near-fatal liver failure. By age two years progressive deafness, dystonia, and spasticity prevent further psychomotor development and/or result in loss of acquired skills. Affected children are completely dependent on care for all activities of daily living; speech is absent.
Infantile liver failure syndrome 1
MedGen UID:
815852
Concept ID:
C3809522
Disease or Syndrome
Purpura simplex
MedGen UID:
124424
Concept ID:
C0272309
Disease or Syndrome

Recent clinical studies

Etiology

Matsumoto T, Nogami K, Shima M
Int J Hematol 2017 Feb;105(2):174-183. Epub 2016 Oct 11 doi: 10.1007/s12185-016-2108-x. PMID: 27730530
Valade S, Azoulay E, Galicier L, Boutboul D, Zafrani L, Stepanian A, Canet E, Lemiale V, Venot M, Veyradier A, Mariotte E
Medicine (Baltimore) 2015 Oct;94(40):e1692. doi: 10.1097/MD.0000000000001692. PMID: 26448017Free PMC Article
Bristow SM, Gamble GD, Stewart A, Horne AM, Reid IR
Br J Nutr 2015 Dec 14;114(11):1868-74. Epub 2015 Sep 30 doi: 10.1017/S0007114515003694. PMID: 26420590
Kalbhenn J, Wittau N, Schmutz A, Zieger B, Schmidt R
Perfusion 2015 Nov;30(8):675-82. Epub 2015 Mar 30 doi: 10.1177/0267659115579714. PMID: 25823366
Escobar MA
Haemophilia 2013 Sep;19(5):648-59. Epub 2013 Apr 22 doi: 10.1111/hae.12137. PMID: 23600951

Diagnosis

Matsumoto T, Nogami K, Shima M
Int J Hematol 2017 Feb;105(2):174-183. Epub 2016 Oct 11 doi: 10.1007/s12185-016-2108-x. PMID: 27730530
Yi XY, Wang Y, Li QF, Li R, Yang SM, Zhou GQ, Wang ZH
Medicine (Baltimore) 2016 Oct;95(41):e5068. doi: 10.1097/MD.0000000000005068. PMID: 27741122Free PMC Article
Katz D, Beilin Y
Br J Anaesth 2015 Dec;115 Suppl 2:ii75-88. doi: 10.1093/bja/aev374. PMID: 26658204
Lippi G, Pasalic L, Favaloro EJ
Expert Rev Hematol 2015 Aug;8(4):527-42. Epub 2015 Apr 25 doi: 10.1586/17474086.2015.1039978. PMID: 25912928
Sabaté A
Clin Adv Hematol Oncol 2013 Mar;11(3):166-8. PMID: 23598984

Therapy

Yi XY, Wang Y, Li QF, Li R, Yang SM, Zhou GQ, Wang ZH
Medicine (Baltimore) 2016 Oct;95(41):e5068. doi: 10.1097/MD.0000000000005068. PMID: 27741122Free PMC Article
Katz D, Beilin Y
Br J Anaesth 2015 Dec;115 Suppl 2:ii75-88. doi: 10.1093/bja/aev374. PMID: 26658204
Bristow SM, Gamble GD, Stewart A, Horne AM, Reid IR
Br J Nutr 2015 Dec 14;114(11):1868-74. Epub 2015 Sep 30 doi: 10.1017/S0007114515003694. PMID: 26420590
Kalbhenn J, Wittau N, Schmutz A, Zieger B, Schmidt R
Perfusion 2015 Nov;30(8):675-82. Epub 2015 Mar 30 doi: 10.1177/0267659115579714. PMID: 25823366
Escobar MA
Haemophilia 2013 Sep;19(5):648-59. Epub 2013 Apr 22 doi: 10.1111/hae.12137. PMID: 23600951

Prognosis

Yi XY, Wang Y, Li QF, Li R, Yang SM, Zhou GQ, Wang ZH
Medicine (Baltimore) 2016 Oct;95(41):e5068. doi: 10.1097/MD.0000000000005068. PMID: 27741122Free PMC Article
Nardi G, Agostini V, Rondinelli B, Russo E, Bastianini B, Bini G, Bulgarelli S, Cingolani E, Donato A, Gambale G, Ranaldi G
Crit Care 2015 Mar 12;19:83. doi: 10.1186/s13054-015-0817-9. PMID: 25880548Free PMC Article
Kalbhenn J, Wittau N, Schmutz A, Zieger B, Schmidt R
Perfusion 2015 Nov;30(8):675-82. Epub 2015 Mar 30 doi: 10.1177/0267659115579714. PMID: 25823366
Sabaté A
Clin Adv Hematol Oncol 2013 Mar;11(3):166-8. PMID: 23598984
Deppe AC, Kuhn E, Scherner M, Slottosch I, Liakopoulos O, Langebartels G, Choi YH, Wahlers T
Thorac Cardiovasc Surg 2013 Apr;61(3):234-9. Epub 2013 Jan 23 doi: 10.1055/s-0032-1322608. PMID: 23344764

Clinical prediction guides

Yan H, Mao Q, Ma Y, Wang L, Chen X, Hu Y, Ge H
Biomed Res Int 2016;2016:9471478. Epub 2016 Jan 18 doi: 10.1155/2016/9471478. PMID: 26885523Free PMC Article
Valade S, Azoulay E, Galicier L, Boutboul D, Zafrani L, Stepanian A, Canet E, Lemiale V, Venot M, Veyradier A, Mariotte E
Medicine (Baltimore) 2015 Oct;94(40):e1692. doi: 10.1097/MD.0000000000001692. PMID: 26448017Free PMC Article
Potet J, Arnaud FX, Thome A, Weber-Donat G, Konopacki J, Bouzad C, Kervella Y, Erauso T, Garcia G, Evelyne P, Valbousquet L, Baccialone J, Teriitehau CA
Diagn Interv Imaging 2015 Nov;96(11):1147-51. Epub 2015 May 27 doi: 10.1016/j.diii.2014.12.012. PMID: 26025158
Natorska J, Undas A
Thromb Haemost 2015 Aug;114(2):217-27. Epub 2015 Mar 26 doi: 10.1160/TH14-10-0861. PMID: 25809537
Solovieva S, Santavirta N, Santavirta S, Konttinen YT
Qual Life Res 2004 Jun;13(5):987-1000. doi: 10.1023/B:QURE.0000025587.97216.8a. PMID: 15233512

Recent systematic reviews

Scharf RE
Hamostaseologie 2015;35(4):301-2. PMID: 26536622
Guay J, Faraoni D, Bonhomme F, Borel Derlon A, Lasne D
Paediatr Anaesth 2015 Dec;25(12):1216-26. Epub 2015 Oct 15 doi: 10.1111/pan.12723. PMID: 26467201
Lippi G, Pasalic L, Favaloro EJ
Expert Rev Hematol 2015 Aug;8(4):527-42. Epub 2015 Apr 25 doi: 10.1586/17474086.2015.1039978. PMID: 25912928
O'Connor CR
Semin Arthritis Rheum 2015 Jun;44(6):695-709. Epub 2014 Dec 4 doi: 10.1016/j.semarthrit.2014.11.008. PMID: 25595725
Coultas DB
Thorax 2014 Mar;69(3):203-4. Epub 2013 Sep 16 doi: 10.1136/thoraxjnl-2013-204245. PMID: 24043637

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