KEGG   DISEASE: Thrombocytopenia (THC)
H00978                      Disease                                

Thrombocytopenia (THC);
Familial platelet disorder with associated myeloid malignancy (FPDMM)
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.
Hematologic disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00978  Thrombocytopenia (THC)
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)
hsa04530 Tight junction   
(THC1) WASP [HSA:7454] [KO:K05747]
(THC2) ANKRD26 [HSA:22852]
(THC2) MASTL [HSA:84930] [KO:K16309]
(THC3) FYB [HSA:2533] [KO:K17698]
(THC4) CYCS [HSA:54205] [KO:K08738]
(THC5) ETV6 [HSA:2120] [KO:K03211]
(THC6) SRC [HSA:6714] [KO:K05704]
(X-linked) GATA1 [HSA:2623] [KO:K09182]
(FPDMM) RUNX1 [HSA:861] [KO:K08367]
Triamcinolone acetonide [DR:D00983]
Lusutrombopag [DR:D10476]
Avatrombopag maleate [DR:D10307]
Other DBs
ICD-11: 3B64
ICD-10: D69.4
OMIM: 313900 188000 273900 612004 616216 314050 601399 616937
Geddis AE
A POTEntial new gene for thrombocytopenia.
Blood 117:6406-8 (2011)
Liew E, Owen C
Familial myelodysplastic syndromes: a review of the literature.
Haematologica 96:1536-42 (2011)
Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Sci Transl Med 8:328ra30 (2016)
Hamamy H, Makrythanasis P, Al-Allawi N, Muhsin AA, Antonarakis SE
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.
BMC Med Genet 15:135 (2014)
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
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Nat Genet 47:535-538 (2015)

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