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Entry Name Description Category Pathway Gene
H00021 Renal cell carcinoma ... accumulates, leading to production of several growth factors, including vascular endothelial growth factor and platelet-derived growth factor. Activated MET mediates a number of biological effects including motility ... Cancer hsa05211 Renal cell carcinoma PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105]
VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871]
MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099]
FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679]
FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594]
HNF1A [HSA:6927] [KO:K08036]
OGG1 [HSA:4968] [KO:K03660]
PBRM1 [HSA:55193] [KO:K11757]
H00224 Bernard-Soulier syndrome
Giant platelet syndrome 		Bernard-Soulier syndrome (BSS) is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor which is composed of 4 proteins, GP1BA, GP1BB, GP9 and ... Hematologic disease GP1BA [HSA:2811] [KO:K06261]
GP1BB [HSA:2812] [KO:K06262]
GP9 [HSA:2815] [KO:K06263]
H00226 Glanzmann thrombasthenia ... autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in the integrin family receptor genes encoding ... Hematologic disease (GT1) ITGA2B [HSA:3674] [KO:K06476]
(GT2) ITGB3 [HSA:3690] [KO:K06493]
H00233 MYH9-related disease
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) 		... anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (Dohle-like bodies). Epstein syndrome is clinically ... Cardiovascular disease MYH9 [HSA:4627] [KO:K10352]
H00334 Bacterial endocarditis
Infective endocarditis 		... endocardial surface of the heart. The characteristic lesion, a vegetation, is composed of a collection of platelets, fibrin, microorganisms, and inflammatory cells. It most commonly involves heart valves but ... Bacterial infectious disease
H00489 LCHAD deficiency
Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency 		... fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses ... Inherited metabolic disorder HADHA [HSA:3030] [KO:K07515]
H00678 Achondrogenesis type IA
Achondrogenesis, Houston-Harris type 		... disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by ... Congenital malformation TRIP11 [HSA:9321] [KO:K23368]
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]
H01108 CD36 deficiency
Platelet glycoprotein IV deficiency
Bleeding disorder platelet-type 10 (BDPLT10) 		Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases ... Inherited metabolic disorder CD36 [HSA:948] [KO:K06259]
H01162 Scott syndrome
Bleeding disorder platelet-type 7 (BDPLT7) 		... rare autosomal recessive congenital bleeding disorder caused by a defect in blood coagulation. When platelets are activated, a calcium-induced rearrangement of the platelet membrane phospholipids takes ... Hematologic disease ANO6 [HSA:196527] [KO:K19500]
H01235 Bleeding disorder platelet-type Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these ... Hematologic disease (BDPLT5/QPD) PLAU [HSA:5328] [KO:K01348]
(BDPLT8) P2RY12 [HSA:64805] [KO:K04298]
(BDPLT11) GP6 [HSA:51206] [KO:K06264]
(BDPLT13) TBXA2R [HSA:6915] [KO:K04264]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT17) GFI1B [HSA:8328] [KO:K09223]
(BDPLT18) RASGRP2 [HSA:10235] [KO:K12361]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT20) SLFN14 [HSA:342618] [KO:K24445]
(BDPLT21) FLI1 [HSA:2313] [KO:K09436]
(BDPLT22) EPHB2 [HSA:2048] [KO:K05111]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
(BDPLT25) TPM4 [HSA:7171] [KO:K10375]
ITGA2 [HSA:3673] [KO:K06481]
H01240 Immune thrombocytopenia
Autoimmune thrombocytopenic purpura 		... the most common cause of isolated thrombocytopenia in children. Destruction of autoantibody-sensitized platelets by Fc[gamma]R-bearing phagocytic cells in the reticuloendothelial system plays an important ... Immune system disease FCGR2C [HSA:9103] [KO:K16824]
H01484 5q- syndrome ... abnormality, macrocytic anemia, less than 5% blasts in the peripheral blood, and a normal or increased platelet count. The 5q- syndrome is also unique because it shows a remarkable response to treatment with ... Hematologic disease RPS14 [HSA:6208] [KO:K02955]
H01496 Spondyloocular syndrome ... the major features include crystalline lens malformation, cataract, retinal detachment that result in loss of vision, facial dysmorphism, generalized osteoporosis, and immobile spine and platyspondyly. Congenital malformation XYLT2 [HSA:64132] [KO:K00771]
H01523 Wiskott-Aldrich syndrome ... 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 and malignancy ... Immune system disease (WAS1) WAS [HSA:7454] [KO:K05747]
(WAS2) WIPF1 [HSA:7456] [KO:K19475]
H01586 Acquired pure red cell aplasia ... remissions. PRCA can be easily diagnosed when isolated anaemia, in the presence of normal white cell and platelet counts, is associated with a marrow of normal cellularity in which there is an almost complete ... Hematologic disease
H01599 Hypereosinophilic syndrome ... interstitial deletion on chromosome 4q12 resulting in the fusion of 2 distinct genes, Fip1-like 1 (FIP1L1) and platelet-derived growth factor receptor-a (PDGFRA), leading to the FIP1L1-PDGFRA fusion kinase. PDGFR ... Cancer (HES) FIP1L1-PDGFRA [HSA:5156] [KO:K04363]
H01626 Arteriosclerosis obliterans ... order to relieve symptoms such as cold sensation and intermittent claudication, drug therapy such as antiplatelet therapy and vasodilatory drugs are useful in the treatment of some patients with ASO. Adsorption ... Cardiovascular disease
H01740 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 ... 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]
H01821 Spondylometaphyseal dysplasia with cone-rod dystrophy ... growth deficiency leading to profound short stature; rhizomelia with bowing of the lower extremities; platyspondyly with anterior vertebral protrusions; progressive metaphyseal irregularity and cupping with ... Congenital malformation PCYT1A [HSA:5130] [KO:K00968]
H01825 Spondylometaphyseal dysplasia, Sedaghatian type ... spondylometaphyseal dysplasia characterised by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary haemorrhage. Most ... Congenital malformation GPX4 [HSA:2879] [KO:K05361]
H01828 Opsismodysplasia Opsismodysplasia (OPS) is a rare, autosomal-recessive skeletal dysplasia primarily characterized by growth plate defects and delayed bone maturation. Its clinical features are rhizomelic micromelia and facial ... Congenital malformation INPPL1 [HSA:3636] [KO:K15909]
H01847 Thrombocytopenia-absent radius syndrome
TAR syndrome 		... single-nucleotide variants and a null allele in RBM8A. Clinical management is based on presentation, with platelet transfusions as required for thrombocytopenia and orthopedic intervention for functional optimization ... Congenital malformation RBM8A [HSA:9939] [KO:K12876]
H01985 Desmoplastic small round cell tumor ... transcription factor. Several transcriptional targets of the EWSR1-WT1 chimera have been identified such as Platelet Derived Growth Factor A (PDGFA), IL2 receptor-beta, Myeloid Leukemia Factor 1 (MLF1) or Insulin-like ... Cancer EWSR1-WT1 (translocation) [HSA:7490] [KO:K09234]
MET (mutation) [HSA:4233] [KO:K05099]
PIK3CA (mutation) [HSA:5290] [KO:K00922]
H02051 May-Hegglin anomaly ... autosomal 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 ... 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]
H02093 Platelet-type von Willebrand disease
Pseudo-von Willebrand disease 		Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder caused by gain-of-function mutations of GP1BA gene coding for the platelet surface glycoprotein Ib alpha protein ... Hematologic disease GP1BA [HSA:2811] [KO:K06261]
H02097 Gray platelet syndrome
Bleeding disorder platelet-type 4 		Gray 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 ... Hematologic disease NBEAL2 [HSA:23218] [KO:K23286]
H02183 Parastremmatic dwarfism
Parastremmatic dysplasia 		... rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees. The term "parastremmatic" is ... Congenital malformation TRPV4 [HSA:59341] [KO:K04973]
H02260 Chondrodysplasia Chassaing-Lacombe type
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 		Chondrodysplasia Chassaing-Lacombe type is also known as chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (CPBHM). It is caused by mutations in HDAC6 and ... Congenital malformation HDAC6 [HSA:10013] [KO:K11407]
H02504 Gastrointestinal ulceration, recurrent, with dysfunctional platelets Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers ... Digestive system disease PLA2G4A [HSA:5321] [KO:K16342]
H02749 Bleeding disorder vascular-type ... episodic impaired microcirculation. Patients present a severe atypical bleeding diathesis despite unaltered platelet function. It has been reported that mutations in APOLD1 cause this disease. APOLD1 encodes apolipoprotein ... Hematologic disease APOLD1 [HSA:81575]
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