KEGG   DISEASE: H00978Help
Entry
H00978                      Disease                                

Name
Thrombocytopenia (THC);
Familial platelet disorder with associated myeloid malignancy (FPDMM)
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 hierarchy
Gene
(THC1) WASP [HSA:7454] [KO:K05747]
(THC2) ANKRD26 [HSA:22852]
(THC2) MASTL [HSA:84930] [KO:K16309]
(THC4) CYCS [HSA:54205] [KO:K08738]
(X-linked) GATA1 [HSA:2623] [KO:K09182]
(FPDMM) RUNX1 [HSA:861] [KO:K08367]
Other DBs
Reference
  Authors
Geddis AE
  Title
A POTEntial new gene for thrombocytopenia.
  Journal
Blood 117:6406-8 (2011)
Reference
  Authors
Liew E, Owen C
  Title
Familial myelodysplastic syndromes: a review of the literature.
  Journal
Haematologica 96:1536-42 (2011)

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