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Entry Name Description Category Pathway Gene
H00012 Polycythemia vera ... share clinical and biological similarities, such as a hematopoietic stem cell origin: PV, essential thrombocythemia (ET), primary myelofibrosis (PMF), chronic myeloid leukemia (CML), some types of hypereosinophilic ... Cancer (PV) JAK2 [HSA:3717] [KO:K04447]
H00107 Other well-defined immunodeficiency syndromes ... syndrome (WAS) is an X-linked recessive disease and characterized by immune dysregulation and microthrombocytopenia. Several nonsense and missense mutations as well as deletions and insertions of the WAS gene ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00224 Bernard-Soulier syndrome
Giant platelet syndrome 		... platelet membrane von Willebrand factor receptor which is composed of 4 proteins, GP1BA, GP1BB, GP9 and GP5. The clinical feature is characterized by variable thrombocytopenia and large defective platelets. Hematologic disease GP1BA [HSA:2811] [KO:K06261]
GP1BB [HSA:2812] [KO:K06262]
GP9 [HSA:2815] [KO:K06263]
H00225 Thrombotic thrombocytopenic purpura
Moschcowitz disease
Schulman-Upshaw syndrome 		Thrombotic thrombocytopenic purpura (TTP) is caused by mutation in the ADAMTS13 gene and characterized by microangiopathic hemolytic anemia and thrombocytopenia. The idiopathic forms were found to have ... Cardiovascular disease ADAMTS13 [HSA:11093] [KO:K08627]
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]
H00233 MYH9-related disease
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) 		... chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (Dohle-like bodies). Epstein syndrome ... Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H00404 Erythema infectiosum
Fifth disease 		... immunocompetent children. Parvovirus B 19 also causes a wide range of clinical complications, including thrombocytopenia and neurological manifestations in immunocompromised patients and intrauterine fetal death ... Viral infectious disease
H00578 Epstein syndrome Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle ... Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H00867 Radioulnar synostosis with amegakaryocytic thrombocytopenia ... 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 disease ... Congenital malformation (RUSAT1) HOXA11 [HSA:3207] [KO:K21951]
(RUSAT2) MECOM [HSA:2122] [KO:K04462]
H00978 Thrombocytopenia (THC) 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 ... Hematologic disease (THC1) WAS [HSA:7454] [KO:K05747]
(THC2) ANKRD26 [HSA:22852] [KO:K25138]
(THC3) FYB1 [HSA:2533] [KO:K17698]
(THC4) CYCS [HSA:54205] [KO:K08738]
(THC5) ETV6 [HSA:2120] [KO:K03211]
(THC6) SRC [HSA:6714] [KO:K05704]
(THC7) IKZF5 [HSA:64376] [KO:K09220]
(THC8) ACTB [HSA:60] [KO:K05692]
(THC9) THPO [HSA:7066] [KO:K06854]
(THC10) PTPRJ [HSA:5795] [KO:K05698]
(THC11) RAP1B [HSA:5908] [KO:K07836]
(THC12) GNE [HSA:10020] [KO:K12409]
(THC13) GALE [HSA:2582] [KO:K01784]
(XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182]
(THAMY) MPIG6B [HSA:80739] [KO:K25640]
(FPDMM) RUNX1 [HSA:861] [KO:K08367]
H01168 Sea-blue histiocyte disease ... histiocyte disease is a clinical entity characterized by splenomegaly, mild purpura secondary to thrombocytopenia, and most often with a relatively prolonged benign course. Numerous sea-blue histiocytes ... Inherited metabolic disorder APOE [HSA:348] [KO:K04524]
H01240 Immune thrombocytopenia
Autoimmune thrombocytopenic purpura 		Immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder, and the most common cause of isolated thrombocytopenia in children. Destruction of autoantibody-sensitized platelets by Fc[gamma]R-bearing ... Immune system disease FCGR2C [HSA:9103] [KO:K16824]
H01416 Severe fever with thrombocytopenia syndrome Severe fever with thrombocytopenia syndrome (SFTS) is a life-threatening infectious disease caused by SFTS virus (SFTSV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Ixodoidea ... Viral infectious disease
H01434 Atypical hemolytic uremic syndrome The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated ... Hematologic disease (AHUS1) CFH [HSA:3075] [KO:K04004]
(AHUS1) CFHR3 [HSA:10878] [KO:K23815]
(AHUS1) CFHR1 [HSA:3078] [KO:K23815]
(AHUS2) CD46, MCP [HSA:4179] [KO:K04007]
(AHUS3) CFI, IF [HSA:3426] [KO:K01333]
(AHUS4) CFB [HSA:629] [KO:K01335]
(AHUS5) C3 [HSA:718] [KO:K03990]
(AHUS6) THBD [HSA:7056] [KO:K03907]
H01484 5q- syndrome ... myelodysplastic syndrome (MDS) characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression to acute myeloid leukemia (AML) compared with ... Hematologic disease RPS14 [HSA:6208] [KO:K02955]
H01516 Adult onset Still disease
Adult Still disease 		... pulmonary hypertension, macrophage activation syndrome, diffuse alveolar hemorrhage, thrombotic thrombocytopenic purpura and amyloidosis. Common laboratory abnormalities include neutrophilic leukocytosis ... Immune system disease
H01523 Wiskott-Aldrich syndrome ... caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity ... Immune system disease (WAS1) WAS [HSA:7454] [KO:K05747]
(WAS2) WIPF1 [HSA:7456] [KO:K19475]
H01584 IgA vasculitis
Henoch-Schonlein purpura 		... most common systemic small vessel vasculitis in childhood with clinical characteristics of non-thrombocytopenic palpable purpura, arthritis, and involvement of internal organs such as gastrointestine (GI) ... Immune system disease
H01612 Essential thrombocythemia
Essential thrombocytosis
Thrombocythemia 		Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms (MPNs), a group of clonal stem cell disorders with similarities at the phenotypic and molecular level. ET is characterized by an ... Hematologic disease (THCYT1) THPO [HSA:7066] [KO:K06854]
(THCYT1) SH2B3 [HSA:10019] [KO:K12459]
(THCYT1) CALR [HSA:811] [KO:K08057]
(THCYT2) MPL [HSA:4352] [KO:K05082]
(THCYT3) JAK2 [HSA:3717] [KO:K04447]
H01698 Giant cell arteritis
Temporal arteritis 		... levels of C-reactive protein (CRP) and other acute phase proteins, anemia of chronic disease, and thrombocytosis. Genetic association studies have described several genes that are associated with predisposition ... Immune system disease
H01740 Macrothrombocytopenia 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 ... Hematologic disease (MATINS) MYH9 [HSA:4627] [KO:K10352]
(BSS) GP1BA [HSA:2811] [KO:K06261]
(BSS) GP1BB [HSA:2812] [KO:K06262]
(BSS) GP9 [HSA:2815] [KO:K06263]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
(STSL1) ABCG8 [HSA:64241] [KO:K05684]
(STSL2) ABCG5 [HSA:64240] [KO:K05683]
(MACTHC1) TUBB1 [HSA:81027] [KO:K07375]
(MACTHC2) TUBA8 [HSA:51807] [KO:K07374]
GATA1 [HSA:2623] [KO:K09182]
VWF [HSA:7450] [KO:K03900]
DIAPH1 [HSA:1729] [KO:K05740]
H01847 Thrombocytopenia-absent radius syndrome
TAR syndrome 		Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive syndrome characterized by severe thrombocytopenia and bilateral defects in development of the radii at birth but with preservation ... Congenital malformation RBM8A [HSA:9939] [KO:K12876]
H02051 May-Hegglin anomaly ... dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and variable thrombocytopenia. It has been suggested that mutations in MYH9 result in this disease. Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H02052 Sebastian syndrome Sebastian platelet syndrome (SPS) is a hereditary giant platelet disorder characterized by thrombocytopenia and the presence of neutrophil inclusions. It has been suggested that mutations in MYH9 result ... Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H02053 Fechtner syndrome Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features ... Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H02093 Platelet-type von Willebrand disease
Pseudo-von Willebrand disease 		... function. In PT-VWD patients, platelets bind the VWF and agglutinate spontaneously. This results in thrombocytopenia and reduction of plasma VWF as platelets are removed from circulation. Of note, there is ... Hematologic disease GP1BA [HSA:2811] [KO:K06261]
H02097 Gray platelet syndrome
Bleeding disorder platelet-type 4 		... platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS is based on ... Hematologic disease NBEAL2 [HSA:23218] [KO:K23286]
H02259 Stormorken syndrome Stormorken syndrome is a rare autosomal dominant disease with mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis ... Hematologic disease STIM1 [HSA:6786] [KO:K16059]
H02283 IVIC syndrome ... pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the SALL4. SALL4 encodes a transcription factor with a wide ... Congenital malformation SALL4 [HSA:57167] [KO:K19871]
H02410 Myelodysplastic/myeloproliferative neoplasms ... pediatric counterpart juvenile myelomonocytic leukemia (JMML), MDS/MPN with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T), atypical BCR-ABL1 negative chronic myeloid leukemia (aCML) and MDS/MPN- unclassifiable ... Cancer DNMT3A (mutation) [HSA:1788] [KO:K17398]
TET2 (mutation) [HSA:54790] [KO:K24309]
IDH1 (mutation) [HSA:3417] [KO:K00031]
IDH2 (mutation) [HSA:3418] [KO:K00031]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
EZH2 (mutation) [HSA:2146] [KO:K11430]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CBL (mutation) [HSA:867] [KO:K04707]
SETBP1 (mutation) [HSA:26040] [KO:K23217]
CSF3R (mutation) [HSA:1441] [KO:K05061]
PTPN11 (mutation) [HSA:5781] [KO:K07293]
NF1 (mutation) [HSA:4763] [KO:K08052]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CEBPA (mutation) [HSA:1050] [KO:K09055]
H02589 Periodic fever, immunodeficiency, and thrombocytopenia syndrome Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder caused by mutations in actin-regulatory gene WDR1. WDR1 is a WD40 repeat protein that ... Immune system disease WDR1 [HSA:9948] [KO:K24736]
H02663 Braddock-Carey syndrome ... syndrome (BRDCS) is a multiple malformation syndrome characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence, and agenesis of the corpus callosum. The genetic etiology of this ... Congenital malformation (BRDCS2) KIF15 [HSA:56992] [KO:K10400]
H02667 Takenouchi-Kosaki syndrome ... dominant disorder caused by mutations in CDC42. TKS is characterized by intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism ... Congenital malformation CDC42 [HSA:998] [KO:K04393]
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