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Entry Name Description Category Pathway Gene
H00226 Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in ... Hematologic disease (GT1) ITGA2B [HSA:3674] [KO:K06476]
(GT2) ITGB3 [HSA:3690] [KO:K06493]
H00227 Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive bone marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced ... Hematologic disease (CAMT1) MPL [HSA:4352] [KO:K05082]
(CAMT2) THPO [HSA:7066] [KO:K06854]
H00867 Radioulnar synostosis with amegakaryocytic thrombocytopenia This disease is a rare combination of proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The ... Congenital malformation (RUSAT1) HOXA11 [HSA:3207] [KO:K21951]
(RUSAT2) MECOM [HSA:2122] [KO:K04462]
H01484 5q- syndrome ... subtype of myelodysplastic syndrome (MDS) characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression to acute myeloid leukemia ... Hematologic disease RPS14 [HSA:6208] [KO:K02955]
H01586 Acquired pure red cell aplasia ... bone marrow with consequent anaemia and reticulocytopenia in the presence of normal granulocytic and megakaryocytic lineages. RPCA can be classified into congenital and acquired. Congenital PRCA is also known ... Hematologic disease
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