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Entry Name Description Category Pathway Gene
H00041 Kaposi sarcoma ... (HIV-KS), however, 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 hsa05167 Kaposi sarcoma-associated herpesvirus infection
hsa05203 Viral carcinogenesis
Bcl-2 (overexpression) [HSA:596] [KO:K02161]
c-MYC (overexpression) [HSA:4609] [KO:K04377]
c-INT (overexpression, mutation) [HSA:2248] [KO:K04358]
K-ras (overexpression, mutation) [HSA:3845] [KO:K07827]
p53 (mutation) [HSA:7157] [KO:K04451]
H00206 Mevalonate kinase deficiency Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia ... Inherited metabolic disease; Immune system disease hsa00900 Terpenoid backbone biosynthesis MVK; mevalonate kinase [HSA:4598] [KO:K00869]
H00365 Herpes simplex virus infection
HSV infection
Herpes simplex viruses (HSV-1 and HSV-2) are responsible for long-term latent infections causing recurrent painful blisters on an erythematous base. HSV-1 and HSV-2 are the usual cause of herpes labialis ... Infectious disease hsa05168 Herpes simplex virus 1 infection
H00366 Varicella
Chickenpox
Herpes zoster
Shingles
Varicella-zoster virus (human herpesvirus 3) is an almost inevitable human pathogen that has a double-stranded linear DNA genome. Primary infection usually causes varicella (chickenpox) in children, after ... 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 ... 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 ... 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 members of beta-herpesvirus that are prevalent in the human population. Like all herpesviruses, HHV-6 and HHV-7 establish latency in the ... 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 ... 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]
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 hsa04744 Phototransduction
hsa00830 Retinol metabolism
hsa03040 Spliceosome
hsa00900 Terpenoid backbone biosynthesis
(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) 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]
(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) SAG [HSA:6295] [KO:K19627]
(RP48) GUCA1B [HSA:2979] [KO:K08328]
(RP49) CNGA1 [HSA:1259] [KO:K04948]
(RP50) BEST1 [HSA:7439] [KO:K13878]
(RP54) C2orf71 [HSA:388939]
(RP55) ARL6 [HSA:84100] [KO:K07951]
(RP56) IMPG2 [HSA:50939] [KO:K19017]
(RP57) PDE6G [HSA:5148] [KO:K13759]
(RP58) ZNF513 [HSA:130557]
(RP59) DHDDS [HSA:79947] [KO:K11778]
(RP60) PRPF6 [HSA:24148] [KO:K12855]
(RP61) CLRN1 [HSA:7401]
(RP62) MAK [HSA:4117] [KO:K08829]
(RP66) RBP3 [HSA:5949]
(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]
(RP73) HGSNAT [HSA:138050] [KO:K10532]
(RP74) BBS2 [HSA:583] [KO:K16747]
(RP75) AGBL5 [HSA:60509]
(RP82) ARL2BP [HSA:23568] [KO:K16742]
(Bothnia retinal dystrophy) RLBP1 [HSA:6017] [KO:K19625]
H00663 Restrictive dermopathy Restrictive dermopathy (LD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple ... Congenital malformation hsa00900 Terpenoid backbone biosynthesis LMNA [HSA:4000] [KO:K12641]
ZMPSTE24 [HSA:10269] [KO:K06013]
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 hsa04260 Cardiac muscle contraction
hsa04530 Tight junction
MYH7 [HSA:4625] [KO:K17751]
H00786 Hereditary hypotrichosis simplex Hereditary hypotrichosis (HSS) is a rare autosomal dominant form of non-syndromic hair loss that affects men and women equally. It is characterized by progressing hair loss from childhood, culminating ... Skin disease APCDD1 [HSA:147495]
CDSN [HSA:1041]
KRT74 [HSA:121391] [KO:K07605]
HR [HSA:55806] [KO:K00478]
SNRPE [HSA:6635] [KO:K11097]
RPL21 [HSA:6144] [KO:K02889]
KRT71 [HSA:112802] [KO:K07605]
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 hsa02010 ABC transporters
hsa00062 Fatty acid elongation
hsa01040 Biosynthesis of unsaturated fatty acids
(STGD1) ABCA4 [HSA:24] [KO:K05644]
(STGD1) CNGB3 [HSA:54714] [KO:K04953]
(STGD3) ELOVL4 [HSA:6785] [KO:K10249]
(STGD4) PROM1 [HSA:8842] [KO:K06532]
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 hsa00230 Purine metabolism
hsa00830 Retinol metabolism
hsa04744 Phototransduction
(LCR1) 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]
(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]
(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]
H00999 Coenzyme Q10 deficiency Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem ... Nervous system disease hsa00130 Ubiquinone and other terpenoid-quinone biosynthesis
hsa00900 Terpenoid backbone biosynthesis
COQ2 [HSA:27235] [KO:K06125]
COQ4 [HSA:51117] [KO:K18586]
COQ6 [HSA:51004] [KO:K06126]
COQ7 [HSA:10229] [KO:K06134]
COQ8A/ADCK3 [HSA:56997] [KO:K08869]
COQ9 [HSA:57017] [KO:K18587]
PDSS1 [HSA:23590] [KO:K12504]
PDSS2 [HSA:57107] [KO:K12505]
APTX [HSA:54840] [KO:K10863]
H01123 HMG-CoA synthase deficiency HMG-CoA synthase (HMGCS) deficiency is a autosomal recessive disorder of ketogenesis. Two isoforms of HMGCS are found in higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial ... Inherited metabolic disease; Mitochondrial disease hsa00072 Synthesis and degradation of ketone bodies
hsa00280 Valine, leucine and isoleucine degradation
hsa00650 Butanoate metabolism
hsa00900 Terpenoid backbone biosynthesis
HMGCS2 [HSA:3158] [KO:K01641]
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]
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 hsa04390 Hippo signaling pathway 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 HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
HLA-DR3
HLA-B8
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. Infectious disease
H01417 Acute encephalitis ... viral infection and autoimmune disorders are the most common. Causes of acute viral encephalitis are herpes simplex virus, other herpes viruses, adenoviruses, influenza A, and so on. Mortality rates range ... Infectious disease; Immune 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 hsa04060 Cytokine-cytokine receptor interaction
hsa04630 JAK-STAT signaling pathway
hsa04640 Hematopoietic cell lineage
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 hsa04141 Protein processing in endoplasmic reticulum P4HB [HSA:5034] [KO:K09580]
SEC24D [HSA:9871] [KO:K14007]
H01614 Multiple system atrophy Multiple system atrophy (MSA) is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction ... Neurodegenerative disease hsa00130 Ubiquinone and other terpenoid-quinone biosynthesis COQ2 [HSA:27235] [KO:K06125]
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 ... Neurodegenerative 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 ... Skin and connective tissue disease; Immune system disease
H01650 Pemphigoid ... may involve the mucous membranes. Diseases in this group include bullous pemphigoid (BP), dermatitis herpetiformis, mucous membrane pemphigois, linear IgA bullous dermatosis, herpes gestationis, and epidermolysis ... Skin and connective tissue disease; Immune system 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 and connective tissue 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 ... Skin and connective tissue 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 ... Skin and connective tissue 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 ... Liver 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 RAB23 [HSA:51715] [KO:K06234]
MEGF8 [HSA:1954]
H01890 Pattern dystrophies of the retinal pigment epithelium
Patterned macular dystrophy
Butterfly-shaped macular dystrophy
Pattern dystrophies of the retinal pigment epithelium (RPE) represent a group of autosomal dominant heterogeneous disorders characterized by the development of a variety of patterns of yellow-orange-grayish ... Nervous system disease (MDPT1) PRPH2 [HSA:5961] [KO:K17343]
(MDPT2) CTNNA1 [HSA:1495] [KO:K05691]
(MDPT3) MAPKAPK3 [HSA:7867] [KO:K04444]
H01933 Porokeratosis Porokeratosis is a heterogeneous group of keratinization disorders that exhibit an autosomal dominant mode of inheritance. The histological hallmark that unifies all variants of PK is cornoid lamella, ... Congenital malformation hsa00900 Terpenoid backbone biosynthesis (POROK1) PMVK [HSA:10654] [KO:K13273]
(POROK3) MVK [HSA:4598] [KO:K00869]
(POROK7) MVD [HSA:4597] [KO:K01597]
(POROK8) SLC17A9 [HSA:63910] [KO:K12303]
(POROK9) FDPS [HSA:2224] [KO:K00787]
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]
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