KEGG   DISEASE: Thrombocytopenia (THC)Help
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-10 classification [BR:br08403]
 3. Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)
  D65-D69  Coagulation defects, purpura and other haemorrhagic conditions
   D69  Purpura and other haemorrhagic conditions
    H00978  Thrombocytopenia (THC)
BRITE hierarchy
(THC1) WASP [HSA:7454] [KO:K05747]
(THC2) ANKRD26 [HSA:22852]
(THC2) MASTL [HSA:84930] [KO:K16309]
(THC4) CYCS [HSA:54205] [KO:K08738]
(THC6) SRC [HSA:6714] [KO:K05704]
(X-linked) GATA1 [HSA:2623] [KO:K09182]
(FPDMM) RUNX1 [HSA:861] [KO:K08367]
Other DBs
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)
PMID:26936507 (gene)
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)

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