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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00041 | Kaposi sarcoma | ... however, they share the same histological traits and are all associated with infection by the human herpesvirus 8 (HHV8; also known as KSHV). Evidence indicates that KS progression occurs upon the deregulated ... | Cancer; Viral infectious disease | hsa05167 Kaposi sarcoma-associated herpesvirus infection |
BCL2 (overexpression) [HSA:596] [KO:K02161] MYC (overexpression) [HSA:4609] [KO:K04377] FGF3 (overexpression, mutation) [HSA:2248] [KO:K04358] KRAS (overexpression, mutation) [HSA:3845] [KO:K07827] TP53 [HSA:7157] [KO:K04451] |
| H00365 |
Herpes simplex virus infection HSV infection |
Herpes simplex virus infection is caused by Herpes simplex virus type 1 (HSV-1) and Herpes simplex virus type 2 (HSV-2), Simplex viruses in the order Herpesvirales of dsDNA viruses. Humans are the only ... | Viral infectious disease | hsa05168 Herpes simplex virus 1 infection | |
| H00366 |
Varicella Chickenpox Herpes zoster Shingles |
Varicella-zoster virus (VZV), also known as human herpes virus 3 (HHV-3), is a human pathogen of the Herpesviridae family that has a double-stranded linear DNA genome. Primary infection usually causes ... | Viral infectious disease | ||
| H00367 |
Infectious mononucleosis Epstein-Barr virus (EBV) infection |
Epstein-Barr virus (EBV) is a common gammaherpesvirus whose initial infection manifests as infectious mononucleosis that is defined as a clinical triad of fever, pharyngitis, and adenopathy. EBV establishes ... | Viral infectious disease | hsa05169 Epstein-Barr virus infection | |
| H00368 |
Cytomegalovirus infection CMV infection |
Cytomegalovirus (CMV) is a double-stranded DNA virus of the Herpesviridae family acquired by late childhood in the majority of individuals. Primary infection is nonspecific but after that the virus becomes ... | Viral infectious disease | hsa05163 Human cytomegalovirus infection | |
| H00369 |
Exanthema subitum Roseolovirus infection Roseola Pityriasis rosea |
Human herpesvirus 6 (HHV-6) and human herpesvirus 7 (HHV-7) are human pathogens of members of beta-herpesvirus. Primary infection with HHV-6 and HHV-7 occurs in early childhood and causes short febrile ... | Viral infectious disease | ||
| H00387 | B virus infection | Macacine herpesvirus 1, also known as B virus, is an alpha-herpesvirus that naturally infects Asiatic macaques. It is transmitted by exposure to contaminated bodily fluids. In macaques, the infection is ... | Viral infectious disease | ||
| H00458 | Syndromic craniosynostoses | Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial ... | Congenital malformation |
(Pfeiffer) FGFR1 [HSA:2260] [KO:K04362] (Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093] (Muenke) FGFR3 [HSA:2261] [KO:K05094] (Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069] (Antley-Bixler) POR [HSA:5447] [KO:K00327] (Carpenter) RAB23 [HSA:51715] [KO:K06234] (Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463] (Noonan) KRAS [HSA:3845] [KO:K07827] (Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730] |
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| H00527 | Retinitis pigmentosa | Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) ... | Nervous system disease |
(RP1) RP1 [HSA:6101] [KO:K19538] (RP2) RP2 [HSA:6102] [KO:K18272] (RP3/RP15) RPGR [HSA:6103] [KO:K19607] (RP4) RHO [HSA:6010] [KO:K04250] (RP7) PRPH2 [HSA:5961] [KO:K17343] (RP7) ROM1 [HSA:6094] [KO:K17344] (RP9) RP9 [HSA:6100] [KO:K19604] (RP10) IMPDH1 [HSA:3614] [KO:K00088] (RP11) PRPF31 [HSA:26121] [KO:K12844] (RP12) CRB1 [HSA:23418] [KO:K16681] (RP13) PRPF8 [HSA:10594] [KO:K12856] (RP14) TULP1 [HSA:7287] [KO:K19600] (RP17) CA4 [HSA:762] [KO:K18246] (RP18) PRPF3 [HSA:9129] [KO:K12843] (RP19) ABCA4 [HSA:24] [KO:K05644] (RP20/87) RPE65 [HSA:6121] [KO:K11158] (RP23) OFD1 [HSA:8481] [KO:K16480] (RP25) EYS [HSA:346007] [KO:K19601] (RP26) CERKL [HSA:375298] [KO:K19602] (RP27) NRL [HSA:4901] [KO:K09038] (RP28) FAM161A [HSA:84140] [KO:K16772] (RP30) FSCN2 [HSA:25794] [KO:K17455] (RP31) TOPORS [HSA:10210] [KO:K10631] (RP32) CLCC1 [HSA:23155] [KO:K22188] (RP33) SNRNP200 [HSA:23020] [KO:K12854] (RP35) SEMA4A [HSA:64218] [KO:K06521] (RP36) PRCD [HSA:768206] [KO:K19637] (RP37) NR2E3 [HSA:10002] [KO:K08546] (RP38) MERTK [HSA:10461] [KO:K05117] (RP39) USH2A [HSA:7399] [KO:K19636] (RP40) PDE6B [HSA:5158] [KO:K13756] (RP41) PROM1 [HSA:8842] [KO:K06532] (RP42) KLHL7 [HSA:55975] [KO:K10445] (RP43) PDE6A [HSA:5145] [KO:K08718] (RP44) RGR [HSA:5995] [KO:K04254] (RP45) CNGB1 [HSA:1258] [KO:K04952] (RP46) IDH3B [HSA:3420] [KO:K00030] (RP47/RP96) SAG [HSA:6295] [KO:K19627] (RP48) GUCA1B [HSA:2979] [KO:K08328] (RP49) CNGA1 [HSA:1259] [KO:K04948] (RP50) BEST1 [HSA:7439] [KO:K13878] (RP54) PCARE [HSA:388939] [KO:K24165] (RP55) ARL6 [HSA:84100] [KO:K07951] (RP56) IMPG2 [HSA:50939] [KO:K19017] (RP57) PDE6G [HSA:5148] [KO:K13759] (RP58) ZNF513 [HSA:130557] [KO:K24373] (RP59) DHDDS [HSA:79947] [KO:K11778] (RP60) PRPF6 [HSA:24148] [KO:K12855] (RP61) CLRN1 [HSA:7401] [KO:K23841] (RP62) MAK [HSA:4117] [KO:K08829] (RP64) CFAP418 [HSA:157657] [KO:K25226] (RP66) RBP3 [HSA:5949] [KO:K23911] (RP67) NEK2 [HSA:4751] [KO:K20872] (RP68) SLC7A14 [HSA:57709] [KO:K13871] (RP69) KIZ [HSA:55857] [KO:K16539] (RP70) PRPF4 [HSA:9128] [KO:K12662] (RP71) IFT172 [HSA:26160] [KO:K19676] (RP72) ZNF408 [HSA:79797] [KO:K24372] (RP73) HGSNAT [HSA:138050] [KO:K10532] (RP74) BBS2 [HSA:583] [KO:K16747] (RP75) AGBL5 [HSA:60509] [KO:K23438] (RP76) POMGNT1 [HSA:55624] [KO:K09666] (RP77) REEP6 [HSA:92840] [KO:K17279] (RP78) ARHGEF18 [HSA:23370] [KO:K21066] (RP79) HK1 [HSA:3098] [KO:K00844] (RP80) IFT140 [HSA:9742] [KO:K19672] (RP81) IFT43 [HSA:112752] [KO:K19675] (RP82) ARL2BP [HSA:23568] [KO:K16742] (RP83) ARL3 [HSA:403] [KO:K07944] (RP84) DHX38 [HSA:9785] [KO:K12815] (RP85) AHR [HSA:196] [KO:K09093] (RP86) RP86 [HSA:57670] (RP88) RP1L1 [HSA:94137] [KO:K19538] (RP89) KIF3B [HSA:9371] [KO:K20196] (RP90) IDH3A [HSA:3419] [KO:K00030] (RP91) IMPG1 [HSA:3617] [KO:K19016] (RP92) HKDC1 [HSA:80201] [KO:K00844] (RP93) CC2D2A [HSA:57545] [KO:K19352] (RP94) SPATA7 [HSA:55812] [KO:K19655] (RP95) RAX2 [HSA:84839] [KO:K09333] (RP97) VWA8 [HSA:23078] [KO:K24512] (Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625] |
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| H00703 |
Myosin storage myopathy Hyaline body myopathy |
... occasionally middle age. Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. MSM has been associated with 4 missense mutations ... | Nervous system disease; Musculoskeletal disease | MYH7 [HSA:4625] [KO:K17751] | |
| H00786 | Hypotrichosis | Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH) ... | Skin disease |
(HYPT1) APCDD1 [HSA:147495] [KO:K25812] (HYPT2) CDSN [HSA:1041] [KO:K23457] (HYPT3) KRT74 [HSA:121391] [KO:K07605] (HYPT4) HRURF [HSA:120766137] (HYPT4/MUHH1) HR [HSA:55806] [KO:K00478] (HYPT5/MUHH2) EPS8L3 [HSA:79574] [KO:K17277] (HYPT6/LAH1) DSG4 [HSA:147409] [KO:K07599] (HYPT7/LAH2) LIPH [HSA:200879] [KO:K19404] (HYPT8/LAH3) LPAR6 [HSA:10161] [KO:K04273] (HYPT11) SNRPE [HSA:6635] [KO:K11097] (HYPT12) RPL21 [HSA:6144] [KO:K02889] (HYPT13) KRT71 [HSA:112802] [KO:K07605] (HYPT14) LSS [HSA:4047] [KO:K01852] (HYPT15) C3orf52 [HSA:79669] [KO:K26953] |
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| H00819 |
Stargardt disease Fundus flavimaculatus |
... characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE), and frequent presence of prominent flecks in the posterior pole of the retina. Histopathologically ... | Nervous system disease |
(STGD1) ABCA4 [HSA:24] [KO:K05644] (STGD3) ELOVL4 [HSA:6785] [KO:K10249] (STGD4) PROM1 [HSA:8842] [KO:K06532] |
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| H00837 | Leber congenital amaurosis | Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor ... | Nervous system disease |
(LCA1) GUCY2D [HSA:3000] [KO:K12321] (LCA2) RPE65 [HSA:6121] [KO:K11158] (LCA3) SPATA7 [HSA:55812] [KO:K19655] (LCA4) AIPL1 [HSA:23746] [KO:K17767] (LCA5) LCA5 [HSA:167691] [KO:K24828] (LCA6) RPGRIP1 [HSA:57096] [KO:K16512] (LCA7) CRX [HSA:1406] [KO:K09337] (LCA8) CRB1 [HSA:23418] [KO:K16681] (LCA9) NMNAT1 [HSA:64802] [KO:K06210] (LCA10) CEP290 [HSA:80184] [KO:K16533] (LCA11) IMPDH1 [HSA:3614] [KO:K00088] (LCA12) RD3 [HSA:343035] [KO:K25404] (LCA13) RDH12 [HSA:145226] [KO:K11153] (LCA14) LRAT [HSA:9227] [KO:K00678] (LCA15) TULP1 [HSA:7287] [KO:K19600] (LCA16) KCNJ13 [HSA:3769] [KO:K05006] (LCA17) GDF6 [HSA:392255] [KO:K20012] (LCA18) PRPH2 [HSA:5961] [KO:K17343] (LCA19) USP45 [HSA:85015] [KO:K11844] (LCAEOD) TUBB4B [HSA:10383] [KO:K07375] |
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| H01130 | Late-onset retinal degeneration | ... decade with night blindness and punctate yellow-white deposits between the retinal pigment epithelium (RPE) and Bruch's membrane, progressing to severe central and peripheral degeneration, with choroidal ... | Nervous system disease | C1QTNF5 [HSA:114902] [KO:K24212] | |
| H01177 | Infantile bilateral striatal necrosis | ... there is much evidence that supports the role of the mutation in NUP62 as the cause of autosomal recessive IBSN. Human herpes virus-6 (HHV-6) infection has been reported to associated with this disease. | Nervous system disease |
NUP62 [HSA:23636] [KO:K14306] MT-ATP6 [HSA:4508] [KO:K02126] |
|
| H01180 |
Sveinsson chorioretinal atrophy (SCRA) Helicoid peripapillary chorioretinal degeneration (HPCD) |
... degenerative lesions is caused by dysplastic abnormalities of the peripapillary retinal pigment epithelium (RPE) and the mechanical tearing of the RPE layer owing to the growth of the globe. Patients with SCRA ... | Nervous system disease | TEAD1 [HSA:7003] [KO:K09448] | |
| H01362 | Dermatitis herpetiformis | Dermatitis herpetiformis (DH) is a chronic, polymorphic, pruritic skin disease that develops mostly in patients with latent gluten-sensitive enteropathy. There is an association with the genotypes HLA ... | Immune system disease; Skin disease |
HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-DR3 HLA-B8 |
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| H01410 | Anaerobic infection | ... sinusitis and otitis media, dental and oral infections, pleuropulmonary infections, intra-abdominal infections, female genital tract infections, non-puerperal breast abscesses and diabetic foot ulcers. | Bacterial infectious disease | ||
| H01417 | Acute encephalitis | ... with various etiologies, but viral infection and autoimmune disorders are the most common. Causes of acute viral encephalitis include herpes simplex virus, other herpes viruses, adenoviruses, influenza A. | Viral infectious disease; Nervous system disease | ||
| H01479 | Castleman disease | ... carries an excellent prognosis. Multicentric Castleman disease can be associated with HIV and human herpesvirus-8 and is characterized by generalized lymphadenopathy and systemic symptoms, such as fever ... | Immune system disease | IL6 [HSA:3569] [KO:K05405] | |
| H01572 | Cole-Carpenter syndrome | Cole-Carpenter syndrome (CCS) is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. CCS was ... | Congenital malformation |
P4HB [HSA:5034] [KO:K09580] SEC24D [HSA:9871] [KO:K14007] |
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| H01624 | Postherpetic neuralgia | Herpes zoster (HZ) presents as a rash of 2-3 weeks duration in immunocompetent patients that is accompanied by moderate or severe pain. In some patients, pain does not resolve when the rash heals but continues ... | Viral infectious disease | ||
| H01638 |
Neuropathic pain Neuralgia |
... including cervical or lumbar radiculopathy, diabetic neuropathy, cancer-related neuropathic pain, postherpetic neuralgia, HIV-related neuropathy, spinal cord injury, trigeminal neuralgia and complex regional ... | Nervous system disease | ||
| H01648 | Pemphigus | ... epidermis, but not observed in the mucous membranes. Inflammatory types of pemphigus include pemphigus herpetiformis (PH), pemphigus vegetans (PVeg) and the so-called paraneoplastic pemphigus (PP). Because ... | Immune system disease; Skin disease | ||
| H01650 | Pemphigoid | ... may involve the mucous membranes. Diseases in this group include bullous pemphigoid (BP), dermatitis herpetiformis, mucous membrane pemphigoid, linear IgA bullous dermatosis, herpes gestationis, and epidermolysis ... | Immune system disease; Skin disease | ||
| H01660 | Pityriasis rosea | ... features suggest an infective agent. Light and electron microscopy findings suggest infection with human herpesviruses 6 and 7 (HHV-6/7). HHV-6 and HHV-7 may also interact with each other, explaining recurrences ... | Skin disease | ||
| H01663 | Pustular psoriasis | ... optimal treatment depends on severity. Diseases considered within the spectrum of GPP include: impetigo herpetiformis and childhood GPP. Acrodermatitis continua of Hallopeau and palmoplantar pustulosis are two ... | Immune system disease; Skin disease | ||
| H01695 | Erythema multiforme | ... to an inciting infectious or pharmacologic antigen. The most common infectious organisms in EM are herpes simplex virus types 1 and 2, as well as Mycoplasma pneumonia. The first line of treatment for EM ... | Immune system disease; Skin disease | ||
| H01712 |
Fulminant hepatic failure Fulminant hepatitis |
... antidotes. Specific therapies include N-acetylcysteine for acetaminophen overdose, and acyclovir for herpesvirus infection. Different therapeutic options such as complete exchange blood transfusion, corticosteroids ... | Digestive system disease | ||
| H01841 | Acute encephalopathy with biphasic seizures and late reduced diffusion | ... biphasic seizures. The etiology of AESD has been attributed to viral infection like influenza A and human herpes virus 6. AESD is the most common subtype of infectious pediatric encephalopathy in Japan, and is ... | Nervous system disease | ||
| H01855 | Biliary atresia | ... regarding the pathogenesis is that bile duct injury is initially caused by a viral infection, and then perpetuated by an autoimmune disorder. Surgical drainage, the only effective intervention, is successful ... | Congenital malformation | ||
| H01888 | Carpenter syndrome | Carpenter syndrome is a rare autosomal recessive multiple malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet. Many other clinical features occur ... | Congenital malformation |
(CRPT1) RAB23 [HSA:51715] [KO:K06234] (CRPT2) MEGF8 [HSA:1954] [KO:K23664] |
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| H01890 |
Pattern dystrophies of the retinal pigment epithelium Patterned macular dystrophy Butterfly-shaped macular dystrophy |
... characterized by the development of a variety of patterns of yellow-orange-grayish pigment deposition above the RPE within the macular area. From middle age, affected individuals present with either normal or slightly ... | Nervous system disease |
(MDPT1) PRPH2 [HSA:5961] [KO:K17343] (MDPT2) CTNNA1 [HSA:1495] [KO:K05691] (MDPT3) MAPKAPK3 [HSA:7867] [KO:K04444] |
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| H02078 | Autosomal dominant vitreoretinochoroidopathy | ... ADVIRC is caused by mutations in the bestrophin-1 (BEST1) gene. Bestrophin-1 is a transmembrane protein of the basolateral membrane of the retinal pigment epithelium (RPE) that acts as a chloride channel. | Nervous system disease | BEST1 [HSA:7439] [KO:K13878] | |
| H02107 | Bietti crystalline corneoretinal dystrophy | ... crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. BCD usually occurs in the second or third decade of life ... | Nervous system disease | CYP4V2 [HSA:285440] [KO:K07427] | |
| H02536 | Infection-induced acute encephalopathy | ... high morbidity and mortality. The infections are usually viral, such as influenza, parainfluenza, and herpes simplex virus. It is possible that genetic factors play an important role in the aetiology of IIAE ... | Nervous system disease; Infectious disease |
(IIAE1) UNC93B1 [HSA:81622] [KO:K26150] (IIAE2) TLR3 [HSA:7098] [KO:K05401] (IIAE3) RANBP2 [HSA:5903] [KO:K12172] (IIAE4) CPT2 [HSA:1376] [KO:K08766] (IIAE5) TRAF3 [HSA:7187] [KO:K03174] (IIAE6) TICAM1 [HSA:148022] [KO:K05842] (IIAE7) IRF3 [HSA:3661] [KO:K05411] (IIAE8) TBK1 [HSA:29110] [KO:K05410] (IIAE9) NUP214 [HSA:8021] [KO:K14317] (IIAE10) SNORA31 [HSA:677814] [KO:K26336] (IIAE11) DBR1 [HSA:51163] [KO:K18328] (IIAE12) RNH1 [HSA:6050] [KO:K16634] |
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