KEGG   DISEASE: H00978Help
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
BRITE hierarchy
(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
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)

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