Familial platelet disorder with associated myeloid malignancy (FPDMM) Thrombocytopenia, anemia, and myelofibrosis (THAMY) X-linked thrombocytopenia with beta-thalassemia (XLTT) X-linked thrombocytopenia with or without dyserythropoietic anemia (XLTDA)
Description
Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are relatively rare causes of thrombocytopenia, but some genes underlying these disorders have been elucidated. Some inherited syndromes predispose to the development of bone marrow failure or leukemia. For example, familial platelet disorder with associated myeloid malignancy (FPDMM) is characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
3B64 Thrombocytopenia
H00978 Thrombocytopenia (THC)
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06524 Apoptosis
H00978 Thrombocytopenia (THC)
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J
Title
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Marconi C, Di Buduo CA, LeVine K, Barozzi S, Faleschini M, Bozzi V, Palombo F, McKinstry S, Lassandro G, Giordano P, Noris P, Balduini CL, Savoia A, Balduini A, Pippucci T, Seri M, Katsanis N, Pecci A
Title
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Niemann JH, Du C, Morlot S, Schmidt G, Auber B, Kaune B, Gohring G, Ripperger T, Schlegelberger B, Hofmann W, Smol T, Ait-Yahya E, Raimbault A, Lambilliotte A, Petit F, Steinemann D
Title
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Izumi R, Niihori T, Suzuki N, Sasahara Y, Rikiishi T, Nishiyama A, Nishiyama S, Endo K, Kato M, Warita H, Konno H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Nakayama K, Kure S, Matsubara Y, Aoki Y, Aoki M
Title
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
Mazharian A, Wang YJ, Mori J, Bem D, Finney B, Heising S, Gissen P, White JG, Berndt MC, Gardiner EE, Nieswandt B, Douglas MR, Campbell RD, Watson SP, Senis YA
Title
Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function.
