KEGG   DISEASE: Macrothrombocytopenia
H01740                      Disease                                

Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations of MTP-affected individuals vary considerably and range from no symptoms to a severe bleeding tendency. MTP-causing mutations have been reported in several genes, involved in various functions such as cell signaling, cytoskeleton organization, and gene expression. Among these, the most common is MYH9, which is responsible for MYH9-related disease. The second most common are GP1BA, GP1BB, and GP, which are responsible for Bernard-Soulier syndrome.
Hematologic disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01740  Macrothrombocytopenia
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
    H01740  Macrothrombocytopenia
hsa04611  Platelet activation
hsa04640  Hematopoietic cell lineage
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04810  Regulation of actin cytoskeleton
hsa04151  PI3K-Akt signaling pathway
MYH9 [HSA:4627] [KO:K10352]
GP1BA [HSA:2811] [KO:K06261]
GP1BB [HSA:2812] [KO:K06262]
GP9 [HSA:2815] [KO:K06263]
ITGA2B [HSA:3674] [KO:K06476]
ITGB3 [HSA:3690] [KO:K06493]
FLNA [HSA:2316] [KO:K04437]
GATA1 [HSA:2623] [KO:K09182]
TUBB1 [HSA:81027] [KO:K07375]
NBEAL2 [HSA:23218] [KO:K23286]
VWF [HSA:7450] [KO:K03900]
GFI1B [HSA:8328] [KO:K09223]
ACTN1 [HSA:87] [KO:K05699]
ABCG5 [HSA:64240] [KO:K05683]
ABCG8 [HSA:64241] [KO:K05684]
PRKACG [HSA:5568] [KO:K04345]
DIAPH1 [HSA:1729] [KO:K05740]
See also H00233 MYH9-related disease, H00224 Bernard-Soulier syndrome, and H01235 Bleeding disorder platelet-type.
Other DBs
ICD-11: 3B64.01
ICD-10: D69.6
MeSH: D013921
OMIM: 155100 605249 153640 600208 153670 231200 187800 300049 300367 613112 139090 613554 187900 615193 210250 616176
Favier R, Raslova H
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Br J Haematol 170:626-39 (2015)
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S
ACTN1 mutations cause congenital macrothrombocytopenia.
Am J Hum Genet 92:431-8 (2013)
Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood 127:2903-14 (2016)

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