TYPE Reference Entry ABSTRACT A definition of the medical term "macrothrombocytopenia" is presented. Macrothrombocytopenia refers to a deficiency of macrothrombocytes.
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Rees DC et al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
[moldiag.com]
A small number of variants in GP1BA have been reported to cause a milder and dominant form of macrothrombocytopenia, but only 2 tentative reports exist of such a variant in
[research-information.bristol.ac.uk]
Some hereditary macrothrombocytopenias may involve problems with the kidneys, hearing loss, and/or cataracts. How is an inherited platelet disorder diagnosed?
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The blood film of an affected individual with the GFI1B c.503G>T mutation demonstrating macrothrombocytopenia.
[intechopen.com]
[…] with hearing loss, Epstein syndrome, Fechtner syndrome With no specific abnormalities: Mediterranean macrothrombocytopenia Harris platelet syndrome Treatment [ edit ] There
[en.wikipedia.org]
Hereditary nephritis with macrothrombocytopenia 1146 Hereditaere Nephritis mit Makrothrombozytopenie Hereditary nephritis with macrothrombocytopenia 2001 1 Hereditary nephritis
[kidney.de]
A family history of nephropathy associated with macrothrombocytopenia was obtained. Epstein syndrome was diagnosed, a rare autosomal dominant disorder.
[ncbi.nlm.nih.gov]
The girl, the father and the uncle presented macrothrombocytopenia (40-100 X 10(9)/l, size 4-8 mum) with prolonged bleeding time (which precluded renal biopsy) and cytoplasmic
[ncbi.nlm.nih.gov]
Discussion An unexplained yet hallmark feature of the Bernard-Soulier syndrome is macrothrombocytopenia.
[doi.org]
An absent platelet glycoprotein (GP) Ib-IX receptor results in the Bernard-Soulier syndrome and is characterized by severe bleeding and the laboratory presentation of macrothrombocytopenia
[ncbi.nlm.nih.gov]
Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed analyses of seven family members.
[ncbi.nlm.nih.gov]
Autosomal recessive inherited gray platelet syndrome was first described in 1971 by Raccuglia in patients having macrothrombocytopenia and mild to moderate bleeding.
[bloodjournal.org]
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet α-granules resulting in typical gray platelets
[ncbi.nlm.nih.gov]
Abstract The Gray Platelet Syndrome (GPS) is a rare inherited bleeding disorder characterized by deficiency of platelet α-granules, macrothrombocytopenia and marrow fibrosis
[ncbi.nlm.nih.gov]
[…] progressive deafness Macrothrombocytopenia with leukocyte inclusions Macu Macular corneal dystrophy Macular degeneration juvenile Macular degeneration, age-related Macular
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[…] progressive deafness Macrothrombocytopenia with leukocyte inclusions Macular corneal dystrophy Macular degeneration juvenile Macular degeneration, age-related Macular degeneration
[mindmappedia.com]
[…] progressive deafness Macrothrombocytopenia with leukocyte inclusions Macu [ edit ] Macular corneal dystrophy Macular degeneration Macular degeneration juvenile Macular degeneration
[en.wikipedia.org]
51206 ] [KO: K06264 ] TBXA2R [HSA: 6915 ] [KO: K04264 ] RASGRP2 [HSA: 10235 ] [KO: K12361 ] SLFN14 [HSA: 342618 ] FLI1 [HSA: 2313 ] [KO: K09436 ] Comment See also H01740 Macrothrombocytopenia
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Heterozygous gain of function mutations in α IIb β 3 can result in a syndrome of macrothrombocytopenia.
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Wiskoj-Aldrich syndrome in a child presenMng with macrothrombocytopenia. Platelets. 2016 Nov 25:1-4. García-Fernández A, Roldán V, Marín F.
[hematoncologia.com]
[…] progressive deafness Macrothrombocytopenia with leukocyte inclusions Macu [ edit ] Macular corneal dystrophy Macular degeneration Macular degeneration juvenile Macular degeneration
[en.wikipedia.org]
[…] progressive deafness Macrothrombocytopenia with leukocyte inclusions Macu Macular corneal dystrophy Macular degeneration juvenile Macular degeneration, age-related Macular
[thefullwiki.org]
Macrothrombocytopenia progressive deafness[?] Macrothrombocytopenia with leukocyte inclusions[?] Macular corneal dystrophy[?] Macular degeneration juvenile[?]
[encyclopedia.kids.net.au]
Macrothrombocytopenia, psychomotor retardation, and nephropathy: A novel familial syndrome.
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Postpartum, the persistence of Dohle bodies and macrothrombocytopenia led to the diagnosis of the May-Hegglin anomaly. Clinical management is described.
[ncbi.nlm.nih.gov]
Macrothrombocytopenia is defined by the presence of Giant platelets, with a diameter equal or superior to the diameter of a red cell.
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[…] progressive deafness Macrothrombocytopenia with leukocyte inclusions Macular corneal dystrophy Macular degeneration juvenile Macular degeneration, age-related Macular degeneration
[mindmappedia.com]
[…] progressive deafness Macrothrombocytopenia with leukocyte inclusions Macu [ edit ] Macular corneal dystrophy Macular degeneration Macular degeneration juvenile Macular degeneration
[en.wikipedia.org]
[…] progressive deafness Macrothrombocytopenia with leukocyte inclusions Macu Macular corneal dystrophy Macular degeneration juvenile Macular degeneration, age-related Macular
[thefullwiki.org]
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
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[…] mental retardation, seizures, and hepatosplenomegaly (stomatin deficiency linked to SLC4A1 ) Nonleaky stomatocytosis with hypercholesterolemia, xanthomas, splenomegaly, and macrothrombocytopenia
[emedicine.medscape.com]
The patients have mild to moderate hemolytic anemia, very prominent stomatocytosis, splenomegaly, normal red cell cations, a normal osmotic fragility test, and macrothrombocytopenia
[cancertherapyadvisor.com]
[…] progressive deafness Macrothrombocytopenia with leukocyte inclusions Macu Macular corneal dystrophy Macular degeneration juvenile Macular degeneration, age-related Macular
[academickids.com]
[…] progressive deafness * Macrothrombocytopenia with leukocyte inclusions Macu * Macular corneal dystrophy * Macular degeneration juvenile * Macular degeneration, age-related
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Macroglossia exomphalos gigantism Macrogyria pseudobulbar palsy Macrophagic myofasciitis Macrosomia developmental delay dysmorphism Macrosomia microphthalmia cleft palate Macrothrombocytopenia
[academickids.com]
Differential diagnosis Differential diagnosis includes other platelet disorders such as macrothrombocytopenias (Bernard-Soulier syndrome, MYH9-related thrombocytopenia, macrothrombocytopenia
[orpha.net]
[…] found in Hermansky Pudlak syndrome, gray platelet syndrome with virtually absent alpha granules, white platelet syndrome, Medich giant platelet disorder, X-linked GATA-1 macrothrombocytopenia
[mayomedicallaboratories.com]
Heterozygous gain of function mutations in α IIb β 3 can result in a syndrome of macrothrombocytopenia.
[mhmedical.com]
[…] syndrome Multiple epiphyseal dysplasia due to collagen 9 anomaly Autosomal dominant nonsyndromic sensorineural deafness type DFNA Fibrochondrogenesis Autosomal dominant macrothrombocytopenia
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Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome MSRB3 Deafness MYH9 Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia
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Macrothrombocytopenia, Nephritis, Deafness, And Leukocyte Inclusions FTNS APSM 153640 Genetic Test Registry Foveal Hypoplasia 1 Foveal Hypoplasia 1 With Or Without Anterior
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while mutations in the tail domain have mild macrothrombocytopenia and low risk of nonhematologic complications.
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Mediterranean macrothrombocytopenia Mediterranean macrothrombocytopenia is characterized by thrombocytopenia and large platelets. There is no bleeding or others symptom.
[doctorlib.info]
Diagnosis is based on a prolonged skin bleeding time, the presence of a small number of very large platelets ( macrothrombocytopenia ), defective ristocetin-induced platelet
[askhematologist.com]
Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia. Platelets. 2007;18:620–7.
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|title=Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.
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Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. Blood. 2017;129:520–4.
[ncbi.nlm.nih.gov]
DISEASE: Defects in MYH9 are the cause of Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650].
[pathwaycommons.org]
Defects in MYH9 are the cause of Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650].
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Brodie HA et al. (1992) Macrothrombocytopenia and progressive deafness: a new genetic syndrome. [^] 4.
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Rees DC et al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
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Definition of macrothrombocytopenia No result for macrothrombocytopenia. Showing similar results...
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8 the original hallmark of Mediterranean macrothrombocytopenia.
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Abstract A form of autosomal dominant macrothrombocytopenia is characterized by mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count.
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Family investigation identified another 34 subjects with either macrothrombocytopenia or platelet macrocytosis.
[bloodjournal.org]
Affiliations PMID: 11222377 DOI: 10.1182/blood.v97.5.1330 Free article Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier
[pubmed.ncbi.nlm.nih.gov]
Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome. Blood. 2002;100(6):2102-7.
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Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood. 2001;97(5):1330-5.
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Glanzmanns Thrombasthenia is a bleeding disorder that occurs in two different types....plus Disease Glanzmanns thrombasthenia is a bleeding disorder that occurs in two different types. They differ in the amount of specific glycoproteins (aIIbb3) embedded in the cell membrane of platelets (thrombocytes), which are[…]
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Macrothrombocytopenia and progressive deafness syndrome ...
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It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts.
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In OMIM, this disease is designated 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' (MATINS).
[flybase.org]
[…] review Amber North West GLH Yorkshire and North East GLH Wessex and West Midlands GLH NHS GMS London South GLH Phenotypes Bernard-Soulier syndrome, type A1, 231200 Mild macrothrombocytopenia
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Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome. Blood. 2002;100(6):2102-7.
[malattierare.regione.veneto.it]
Seminars in thrombosis and hemostasis. 2007 Nov [PubMed PMID: 18175283] [21] Kahr WH,Dror Y, Gray platelet syndrome: macrothrombocytopenia with deficient α-granules.
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Paris-Trousseau syndrome is a type of hereditary macrothrombocytopenia and it is associated with giant platelets, thrombocytopenia (low platelet count), dysmegakaryopoiesis
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Lipomatosis, Multiple Symmetric Lipoma OMIM:151800 Lipomatosis, Multiple Multiple lipomas OMIM:151900 Macrothrombocytopenia, Isolated, 2, Autosomal Dominant Macrothrombocytopenia
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Craniosynostosis And Dental Anomalies OMIM:171100 Phagocytosis, Plasma-Related Defect In OMIM:243400 Acetylation, Slow OMIM:158100 Monophalangy Of Great Toe OMIM:600208 Macrothrombocytopenia
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[…] aggregation, Macrothrombocytopenia OMIM:613112 Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities Abnormal reticulocyte morphology, Anisocytosis,
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AP3B1; HPS3-6; DTNBP1; BLOC1S1-7 X047 Leukocyte integrin adhesion deficientie, type III FERMT3 X048 Macrotrombocytopenie, β-tubuline 1 gerelateerd ACTN1; FLNA; TUBB1 X049 Macrothrombocytopenia
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A novel mutation in GP1 BA gene leads to mono-allelic Bernard–Soulier syndrome form of macrothrombocytopenia.
[cambridge.org]
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias. Br J Haematol. 2015; 170: 626-639. -SAVOIA A, et al.
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Abstract Fechtner syndrome is an autosomal-dominant variant of Alport syndrome, manifested by nephritis, sensorineural hearing loss, cataract formation, macrothrombocytopenia
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[…] responsible for the unclassified forms of macrothrombocytopenia.
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Format Definition A disorder characterized by macrothrombocytopenia without notable hemostatic problems and bleeding tendency.
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Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome. Blood. 2002;100(6):2102-7.
[malattierare.regione.veneto.it]
Macrothrombocytopenia, psychomotor retardation, and nephropathy: A novel familial syndrome.
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Congenital macrothrombocytopenias. Blood Rev 2006;20:111-21. 4. Heath KE, Campos-Barros A, Toren A, et al.
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Hereditary nephritis with macrothrombocytopenia: No longer an Alport syndrome variant. Nephrol Dial Transplant 2001;16:1101-3. 8.
[sjkdt.org]
