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Entry Name Description Category Pathway Gene
H00219 Hemophilia Hemophilia A and B are X-linked recessive disorders which are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor ... Hematologic disease (HEMA) F8 [HSA:2157] [KO:K03899]
(HEMB) F9 [HSA:2158] [KO:K01321]
(VWD) VWF [HSA:7450] [KO:K03900]
(VWDP) GP1BA [HSA:2811] [KO:K06261]
H00220 Factor V deficiency
Owren disease 		Factor V deficiency is an autosomal recessive hemorrhagic disorder, which is identified as an inherited resistance to the anticoagulant function of activated protein C. Hematologic disease F5 [HSA:2153] [KO:K03902]
H00232 Hereditary stomatocytosis Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium. Hematologic disease (OHST) RHAG [HSA:6005] [KO:K06580]
(DHS1) PIEZO1 [HSA:9780] [KO:K22128]
(DHS2) KCNN4 [HSA:3783] [KO:K04945]
(PSHK2) ABCB6 [HSA:10058] [KO:K05661]
(CHC) SLC4A1 [HSA:6521] [KO:K06573]
(SDCHCN) SLC2A1 [HSA:6513] [KO:K07299]
H00277 Enterohemorrhagic Escherichia coli (EHEC) infection Enterohemorrhagic Escherichia coli (EHEC) infection is typically contracted through consumption of contaminated food or contact with contaminated water, animal feces or infected animals. EHEC is also referred ... Bacterial infectious disease hsa05130 Pathogenic Escherichia coli infection
H00283 Ebola disease
Ebola hemorrhagic fever 		Ebola disease, also known as Ebola hemorrhagic fever, is a deadly infectious disease caused by ebolaviruses within the genus Ebolavirus in the family Filoviridae of -ssRNA viruses. Four ebolavirus are ... Viral infectious disease
H00284 Crimean-Congo hemorrhagic fever Crimean-Congo hemorrhagic fever is an often fatal infectious disease caused by Crimean-Congo hemorrhagic fever virus (CCHFV), an orthonairovirus in the order Bunyavirales of -ssRNA viruses, and transmitted ... Viral infectious disease
H00319 Pertussis
Whooping cough 		... also follow a much milder or subclinical course. Complications that are frequently associated with classical pertussis include pneumonia, otitis media, seizures, encephalopathy, and (brain) hemorrhages. Bacterial infectious disease hsa05133 Pertussis
H00381 Dengue ... least four different serotypes of DENV are known causing dengue fever and life-threatening dengue hemorrhagic fever. Dengue is a very old disease with a report of dengue-like illness in China as early as ... Viral infectious disease
H00385 South American hemorrhagic fever ... -ssRNA viruses have a natural reservoir in rodents and occasionally infect humans causing viral hemorrhagic fevers. Phylogenetically, arenaviruses can be divided into Old World and New World groups, reflecting ... Viral infectious disease
H00386 Lassa fever Lassa fever is an acute viral hemorrhagic illness caused by Lassa virus (LASV), an Old World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. LASV was first discovered ... Viral infectious disease
H00389 Hemorrhagic fever with renal syndrome Hemorrhagic fever with renal syndrome (HFRS) is a group of diseases caused by hantaviruses which are members of family Bunyaviridae. Rodents and Soricomorpha species are natural reservoirs of these viruses ... Viral infectious disease
H00405 Marburg disease
Marburg hemorrhagic fever 		... within the genus Marburgvirus in the family Filoviridae of -ssRNA viruses. Related viruses in Filoviridae are the causative agent of Ebola hemorrhagic fever. Marburgvirus was discovered in 1967 in Germany. Viral infectious disease
H00416 Omsk hemorrhagic fever Omsk hemorrhagic fever is an acute viral disease that was found in Omsk, west Siberia in Russia. The disease presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic ... Viral infectious disease
H00533 Hereditary hemorrhagic telangiectasia
Osler disease 		Hereditary hemorrhagic telangiectasia (HHT), also known as Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal ... Congenital malformation (HHT1) ENG [HSA:2022] [KO:K06526]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(HHT5) GDF2 [HSA:2658] [KO:K05503]
(JPHT) SMAD4 [HSA:4089] [KO:K04501]
H00534 Cerebral cavernous malformation ... system comprising enlarged caverns with a single layer of endothelium, which easily lead to cerebral hemorrhages. The disease present as either sporadic or autosomal dominant conditions and is linked to three ... Congenital malformation (CCM1) KRIT1 [HSA:889] [KO:K17705]
(CCM2) MGC4607 [HSA:83605] [KO:K26416]
(CCM3) PDCD10 [HSA:11235] [KO:K18269]
(CCM4) PIK3CA [HSA:5290] [KO:K00922]
H00839 Porencephaly ... rare disease of central nervous system characterized by the existence of degenerative cavities filled with cerebrospinal fluid in the brain. It is probably caused by perinatal intracerebral hemorrhages. Congenital malformation COL4A1 [HSA:1282] [KO:K06237]
COL4A2 [HSA:1284] [KO:K06237]
H00877 Brain small vessel disease ... in the COL4A1 gene, encoding the a1 chain of type IV collagen, cause brain small vessel disease with hemorrhage, that is a condition associated with diffuse leukoencephalopathy and ocular malformations. Cardiovascular disease (BSVD1) COL4A1 [HSA:1282] [KO:K06237]
(BSVD2) COL4A2 [HSA:1284] [KO:K06237]
(BSVD3) COLGALT1 [HSA:79709] [KO:K11703]
H00938 Factor XI deficiency
Plasma thromboplastin antecedent deficiency
Rosenthal syndrome 		... worldwide. FXI deficiency is characterized by infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or surgery. More than 180 mutations in the FXI gene have ... Hematologic disease F11 [HSA:2160] [KO:K01323]
H00945 Factor XIII deficiency ... symptoms like excessive bruising to life threatening bleeding emergencies such as intracranial hemorrhages. In plasma, FXIII circulates as a pro-transglutaminase composed of two catalytic A subunits and ... Hematologic disease F13A1 [HSA:2162] [KO:K03917]
F13B [HSA:2165] [KO:K03906]
H00983 Alpha-2-plasmin inhibitor (a2-PI) deficiency Alpha-2-plasmin inhibitor (a2-PI) deficiency is an autosomal recessive disorder resulting in severe hemorrhagic diathesis. Mutations in SERPINF2 gene cause a2-PI deficiency. A2-PI acts as the primary inhibitor ... Hematologic disease SERPINF2 [HSA:5345] [KO:K03983]
H01106 Plasminogen activator inhibitor type 1 deficiency ... circulation. Affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical procedures. Spontaneous bleeding events are rarely ... Hematologic disease PAI1 [HSA:5054] [KO:K03982]
H01185 Cerebral amyloid angiopathy
Hereditary cerebral hemorrhage with amyloidosis 		Cerebral amyloid angiopathy (CAA) is characterized by the deposition of congophilic material in the vessels of the cortex and leptomeninges. Although CAA most commonly appears in a sporadic form associated ... Neurodegenerative disease CST3 [HSA:1471] [KO:K13899]
APP [HSA:351] [KO:K04520]
H01214 Rh-null hemolytic anemia (RHN)
Rh-deficiency syndrome 		... and Rh30 polypeptides, which form a complex essential for Rh antigen expression and erythrocyte membrane integrity. It is reported that RHN is caused by mutations of RHAG that encodes Rh50 glycoprotein. Hematologic disease RHAG [HSA:6005] [KO:K06580]
H01250 Hereditary gingival fibromatosis ... rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. Four gene loci have been ... Digestive system disease (GINGF1) SOS1 [HSA:6654] [KO:K03099]
(GINGF5) REST [HSA:5978] [KO:K09222]
H01301 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Hemorrhagic destruction of the brain, subependymal calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in ... Nervous system disease JAM3 [HSA:83700] [KO:K06785]
H01322 Kyasanur Forest disease Kyasanur Forest disease is a viral hemorrhagic fever caused by Kyasanur Forest disease virus (KFDV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Ixodoidea ticks. KFDV ... Viral infectious disease
H01330 Brazilian purpuric fever ... disease is characterized by purulent conjunctivitis and subsequent acute onset of nausea, vomiting, hemorrhagic skin lesions, fever, prostration, and shock. Vascular destruction is a distinctive trait. Bacterial infectious disease
H01367 Infantile liver failure ... life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. Clinically, patients manifest with elevated liver transaminases, ... Inherited metabolic disorder, Mitochondrial disease (ILFS1) LARS [HSA:51520] [KO:K01869]
(ILFS2) NBAS [HSA:51594] [KO:K20473]
(ILFS3) RINT1 [HSA:60561] [KO:K20474]
(LFIT) TRMU [HSA:55687] [KO:K21027]
H01405 Lactococcus garvieae infection ... garvieae, catalase-negative, facultative anaerobic cocci, is a major pathogen of fish and causes fatal hemorrhagic septicemia in fish such as yellowtail and trout, and it has also been isolated from buffaloes ... Bacterial infectious disease
H01421 Acute hemorrhagic conjunctivitis Acute hemorrhagic conjunctivitis (AHC) is a highly contagious viral conjunctivitis first observed in 1969 in Ghana. Causative agents thus far identified are enterovirus 70 and coxsackievirus A24 variant ... Viral infectious disease
H01457 Diabetic retinopathy ... signs are not visible to the eye. however, some defects including microaneurysms, intraretinal hemorrhaging, narrowing or blocked retinal blood vessels can be seen by detection; in the second stage, known ... Endocrine and metabolic disease; Nervous system disease VEGFA [HSA:7422] [KO:K05448]
EPO [HSA:2056] [KO:K05437]
ACE [HSA:1636] [KO:K01283]
PON1 [HSA:5444] [KO:K01045]
H01516 Adult onset Still disease
Adult Still disease 		... AOSD include transient pulmonary hypertension, macrophage activation syndrome, diffuse alveolar hemorrhage, thrombotic thrombocytopenic purpura and amyloidosis. Common laboratory abnormalities include neutrophilic ... Immune system disease
H01541 Argentine hemorrhagic fever Argentine hemorrhagic fever is an infectious disease caused by Junin virus (JUNV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. JUNV was first isolated ... Viral infectious disease
H01542 Bolivian hemorrhagic fever Bolivian hemorrhagic fever is an infectious disease caused by Machupo virus (MACV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. MACV was first isolated ... Viral infectious disease
H01543 Venezuelan hemorrhagic fever Venezuelan hemorrhagic fever is an infectious disease caused by Guanarito virus (GTOV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. GTOV was first isolated ... Viral infectious disease
H01544 Brazilian hemorrhagic fever Brazilian hemorrhagic fever is an infectious disease caused by Sabia virus (SABV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. SABV was first isolated ... Viral infectious disease
H01560 Alkhumra hemorrhagic fever Alkhumra hemorrhagic fever is a severe, often fatal, infectious disease caused by Alkhumra hemorrhagic fever virus (AHFV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by ... Viral infectious disease
H01580 Vitamin C deficiency
Scurvy 		... vitamin C, which is characterized by bleeding gums, impaired wound healing, petechiae, perifollicular hemorrhage, anemia, arthralgia and joint effusions, fatigue, depression, and sudden death. It appears to result ... Inherited metabolic disorder
H01621 Pulmonary arterial hypertension ... frequency, the type III receptor endoglin in multiple kindreds cause PAH associated with hereditary hemorrhagic telangiectasia (HHT). Together, these observations support a prominent role for TGF-beta family ... Cardiovascular disease (PPH1) BMPR2 [HSA:659] [KO:K04671]
(PPH2) SMAD9 [HSA:4093] [KO:K16791]
(PPH3) CAV1 [HSA:857] [KO:K06278]
(PPH4) KCNK3 [HSA:3777] [KO:K04914]
(PPH5) ATP13A3 [HSA:79572] [KO:K14951]
(PPH6) CAPNS1 [HSA:826] [KO:K08583]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
H01630 Patent ductus arteriosus ... infants. It can be associated with an increased incidence of chronic lung disease, intraventricular hemorrhage, and necrotizing enterocolitis. Clinicians may choose to treat the PDA in an attempt to minimize ... Congenital malformation (PDA2) TFAP2B [HSA:7021] [KO:K09176]
(PDA3) PRDM6 [HSA:93166] [KO:K20795]
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