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Autosomal Recessive Myeloproliferative Disease


  • Fleisher and Roizen present a completely revised new edition that includes coverage of many new conditions, procedures, and drugs.[books.google.com]
  • The appearance resembled promyelocytic leukemia, but the diagnostic 15:17 translocation was not present.[link.springer.com]
  • Comment: A thrombocythemia is present when the platelet count is chronically elevated 450 10 9 /l. By definition, it is congenital if it is present from birth. In such persons the thrombocythemia is usually detected at a young age.[nature.com]
  • In practice - both primary and secondary - the patients with more severe forms of the disorder will present with abnormal bleeding.[patient.info]
Refractory Anemia
  • anemia Refractory anemia with excess blasts Refractory anemia with excess blasts in transformation Refractory anemia with excess blasts type 1 Refractory anemia with excess blasts type 2 Refractory cytopenia with multilineage dysplasia Reticular perineurioma[se-atlas.de]
  • View Article PubMed Google Scholar Schnittger S, Bacher U, Haferlach C, Dengler R, Krober A, Kern W, Haferlach T: Detection of an MPLW515 mutation in a case with features of both essential thrombocythemia and refractory anemia with ringed sideroblasts[jhoonline.biomedcentral.com]
  • Rohl JCG, Warren M and Hunt D (1998) Purple Secret: Genes, ‘Madness’ and the Royal Houses of Europe. London, UK: Bantam Press. Web Links Aminolevulinate, delta‐, dehydratase (ALAD); Locus ID: 210.[els.net]
  • Meet the needs of specific patient groups with a new chapter on Bleeding and the Management of Hemorrhagic Disorders in Pregnancy and an extensively updated chapter on Thrombosis and Cancer.[books.google.com]
  • In patients with an increased risk of thrombosis, previous thrombosis, peripheral vascular disease, diabetes or hypertension, venesection should be considered at Hct less than 54%.[orpha.net]
  • [PUBMED Abstract] Schafer AI: Bleeding and thrombosis in the myeloproliferative disorders. Blood 64 (1): 1-12, 1984.[cancer.gov]
  • Among low-risk patients (defined as age 60 years with no prior thrombotic episodes), a retrospective review of 300 patients showed benefit for antiplatelet agents in reducing venous thrombosis in JAK2-positive cases and in reducing arterial thrombosis[northshore.org]
  • Get the latest information on hot topics such as Disseminated Intravascular Coagulation, Thrombophilia, Clinical and Laboratory Assessment and Management, Thrombotic -Thrombocytopenic Purpura, and Heparin-Induced Thrombocytopenia.[books.google.com]
  • , drug-induced immune thrombocytopenia, neonatal alloimmune thrombocytopenia, post-transfusion purpura Non-immune mediated platelet consumption: thrombotic thrombocytopenic purpura (TTP), hemolytic-uremic syndrome (HUS), disseminated intravascular coagulation[uab.edu]
  • Purpura is peculiar to states of vascular damage (Vascular purpura or non-thrombo- cytopenic purpura) and platelet inadequacy.[docsity.com]
  • Outline Chapter 20: Disorders of Hemostasis and Thrombosis Hemostatic Disorders Platelet Disorders Thrombocytopenia Immune Thrombocytopenia Thrombotic Thrombocytopenic Purpura and Hemolytic-Uremic Syndrome Heparin-Induced Thrombocytopenia Posttransfusion[unboundmedicine.com]
  • […] fulminans Acquired thrombotic thrombocytopenic purpura Acquired von Willebrand syndrome Acute basophilic leukemia Acute biphenotypic leukemia Acute erythroid leukemia Acute leukemia of ambiguous lineage Acute lymphoblastic leukemia Acute megakaryoblastic[se-atlas.de]
Skin Lesion
  • Patients suffer from acute neurovisceral attacks, always associated with overproduction of porphyrin precursors, skin lesions caused by photosensitisation by porphyrins or both together.[els.net]
  • Stay current on the latest anesthetic implications in regards to coexisting diseases, procedures, drugs, and alternative and complementary therapies, including coverage of mitochondrial myopathy, atrial fibrillation ablation, awake craniotomy, stereotactic[books.google.com]
  • Drosophila as a Model for Human Diseases Adrenoleukodystrophy Adult-onset inherited myopathy Aging and lifespan Alcoholism Alzheimer's disease - a chronic neurodegenerative disease Amyotrophic Lateral Sclerosis - a motor neuron disease Angelman syndrome[sdbonline.org]
  • Idiopathic hypereosinophilic syndrome Infantile myofibromatosis Myeloid neoplasm associated with PDGFRB rearrangement Unclassified chronic myeloproliferative disease Autosomal dominant Charcot-Marie-Tooth disease type 2M Autosomal dominant centronuclear myopathy[csbg.cnb.csic.es]
  • : 2q22 MUTATIONS ANALYZED: c.9619-2 CARRIER FREQUENCY: 1:168 (Ashkenazi Jewish) MODE OF INHERITANCE: autosomal recessive Nemaline myopathy is characterized by muscle weakness (myopathy) throughout the body, with the most severe symptoms affecting the[chginc.org]
  • Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic acidemia with homocystinuria, type cblX Microcytic anemia with liver iron overload Mild hemophilia A Mild hemophilia B Mitochondrial myopathy[se-atlas.de]


  • Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene.[chginc.org]
  • Kikuchi M, Tayama T, Hayakawa H, Takahashi I, Hoshino H, Ohsaka A : Familial thrombocytosis. Br J Haematol. 1995; 89 : 900–902. 7.[nature.com]
  • Inherited germ-line mutations in the thrombopoietin (TPO) gene and its receptor MPL have been found causing thrombocytosis in a number of HT families.[edoc.unibas.ch]
  • We proposed a strategy for patients with thrombocytopenia or thrombocytosis, especially with a family history and congenital history (Summarised in Figure 2 ).[jhoonline.biomedcentral.com]
  • K39N represents an identified functional Mpl polymorphism and is associated with altered protein expression of Mpl and a clinical phenotype of thrombocytosis. Footnotes * To whom correspondence should be addressed. E-mail: amoliter{at}jhmi.edu.[pnas.org]
  • [top] Thrombocytosis: Count 400,000/uL Reactive thrombocytosis: hemorrhage, surgery, iron deficiency anemia, inflammation - normal platelets - no bleeding risk Myeloproliferative disorders: essential thrombocythemia, chronic myelocytic leukemia, polycythemia[uab.edu]


  • See also the following treatment articles: Treatments for Myeloproliferative Disorders Causes See also causal information: Causes of Myeloproliferative Disorders • • • References Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1850779/ •[familydiagnosis.com]
  • Efficiently look up concise descriptions of each condition, its associated symptoms, laboratory findings, diagnosis, differential diagnosis, and treatment.[books.google.com]
  • The drugs fitusiran and concizumab may be useful treatments for several of the rare congenital coagulation disorders, but clinical trials will be needed.[msdmanuals.com]
  • Treatment Treatment of acquired aplastic anemia varies, depending upon the individual’s age, general health, and the severity of aplastic anemia.[rarediseases.org]


  • PMID: 8358940 Prognosis Sheikha A J Pediatr Hematol Oncol 2004 Mar;26(3):164-8. PMID: 15125608 Bartal C, Yerushalmi R, Zilberman D, Yermiyahu T Leuk Lymphoma 1996 May;21(5-6):509-13, color plate XXI following 5. doi: 10.3109/10428199609093452.[ncbi.nlm.nih.gov]
  • Prognosis Primary familial polycythemia does not necessarily carry an adverse prognosis in early life and most patients have a benign clinical course, but it is associated with an increased risk of thrombosis and vascular mortality in later life.[orpha.net]
  • Prognosis better Reed Sternburg Cells- secrete cytokines and recruit other immune cells. Bimodal distribution. Men more often except nodular sclerosing type EBV association. B signs-fever, night sweats, weight loss.[quizlet.com]
  • Even when diagnosed early, this cancer has a poor prognosis, presenting an associated 2-year survival rate of 10% 2.[sophiagenetics.com]
  • [PUBMED Abstract] Tefferi A: Survivorship and prognosis in myelofibrosis with myeloid metaplasia. Leuk Lymphoma 47 (3): 379-80, 2006.[cancer.gov]


  • Etiology Br J Haematol 2015 Nov;171(4):557-65. Epub 2015 Aug 25 doi: 10.1111/bjh.13651. PMID: 26306619 Shapiro F Clin Orthop Relat Res 1993 Sep;(294):34-44.[ncbi.nlm.nih.gov]
  • McKusick, The Johns Hopkins University School of Medicine, Baltimore, MD, June 17, 2004 (received for review March 26, 2004) Abstract The chronic myeloproliferative disorders (MPD) are clonal hematopoietic stem cell disorders of unknown etiology.[pnas.org]
  • There are two distinct forms of the disease: Primary polycythemia (polycythemia vera) is a myeloproliferative disorder of unknown etiology.[medical-dictionary.thefreedictionary.com]
  • Etiology Primary familial polycythemia is caused by mutations in the EPO receptor ( EPOR ) gene (19p13.3-p13.2) resulting in hypersensitivity to EPO.[orpha.net]
  • All these germ-line mutations have not been found in sporadic patients and are only responsible for the etiology of some HT families, indicating that the occurrence of these germ-line mutations is a rare event.[edoc.unibas.ch]


  • TYK2 deficiency - AR-HIES due to TYK2 deficiency Classification (Orphanet): - Rare genetic disease - Rare immune disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological[csbg.cnb.csic.es]
  • Epidemiology Prevalence is as high as 1-2% in the general population on unselected screening. Worldwide incidence is around 125 per million with between 0.5 and 5 per million being severely affected. Most patients have mild disease.[patient.info]
  • Summary Epidemiology Prevalence is unknown. Clinical description The hematological disorder is present at birth but the clinical symptoms, if they develop, can be discovered at any time during childhood or adulthood.[orpha.net]
  • Puy H, Deybach J‐C, Lamoril J et al. (1997) Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. American Journal of Human Genetics 60: 1373–1383. Puy H, Gouya L and Deybach J‐C (2010) Porphyrias.[els.net]
  • Molecular epidemiology of erythropoietic protoporphyria in the U.K. Br J Dermatol. 2010 Mar. 162(3):642-6. [Medline]. Frank J, Poblete-Gutiérrez P.[emedicine.medscape.com]
Sex distribution
Age distribution


  • Acquired von Willebrand syndrome (AVWS) is associated with a number of different disease states and is caused by several different pathophysiological mechanisms, including antibody formation, proteolysis, binding to tumor cells with increased clearance[beaumontlaboratory.com]
  • Pathophysiology Von Willebrand's disease (vWD) results from the deficiency or abnormal function of von Willebrand factor (vWF). vWF is a multimeric glycoprotein encoded for by gene map locus 12p13.31. [ 1 ] It is made in the endothelium and stored in[patient.info]
  • […] corticosteroids, intravenous immunoglobulin, and anti-D) and second- and third-line therapies (such as immunosuppressants, splenectomy, and newer, thrombopoietic agents).[ 4 ] In their article on ITP, Toltl and colleagues provide an overview on ITP pathophysiology[thieme-connect.com]
  • Pathophysiology of Disease (5th ed.). New York: Lange Medical Books/McGraw-Hill. pp. 106–110. ISBN 0-07-144159-X. "Blood Cancers: Leukemia, Lymphoma, and Myeloma". Centers for Disease Control and Prevention.[en.wikipedia.org]
  • Defective CLPX leads to increased ALAS post-translational stability, which results in excess accumulation of erythrocyte protoporphyrin. [20] Pathophysiology Protoporphyrin is a lipophilic molecule capable of transformation to excited states by absorption[emedicine.medscape.com]


  • الصفحة 83 - Randomized placebo-controlled study of recombinant human interleukin-11 to prevent chemotherapy-induced thrombocytopenia in patients with breast cancer receiving dose-intensive cyclophosphamide and doxorubicin.[books.google.com]
  • Such treatment consists of giving red blood cell transfusions to correct anemia, platelet transfusions to treat or prevent serious bleeding, and antibiotics to treat or prevent infections.[rarediseases.org]
  • It binds to coagulation factor VIII preventing its clearance from the plasma. Epidemiology Prevalence is as high as 1-2% in the general population on unselected screening.[patient.info]
  • (can engulf but can't break things down) - Rare autosomal recessive disorder - Death usually occurs in infancy or childhood - Giant granules formed by aggregation and fusion of primary and specific granules (seen in most granule-containing cells) - Prevents[brainscape.com]
  • Rest should be balanced with exercise, but the patient should be advised that activity and ambulation help prevent thrombotic complications.[medical-dictionary.thefreedictionary.com]

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