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Entry Name Description Category Pathway Gene
H00006 Hairy cell leukemia ... Mutations of p53 and Bcl-6 have been reported in about one-third of cases, but their functional significance is unclear. Over-expression of cyclin D1, an important cell cycle regulator, has been reported ... Cancer hsa05202 Transcriptional misregulation in cancer p53 (mutation) [HSA:7157] [KO:K04451]
Bcl-6 (mutation) [HSA:604] [KO:K15618]
Cyclin D1 (overexpression) [HSA:595] [KO:K04503]
H00010 Multiple myeloma ... growth. Often it is preceded by a premalignant tumor called monoclonal gammopathy of undetermined significance (MGUS). Multiple oncogenic events have been identified that have contributed to the pathogenesis ... Cancer hsa05202 Transcriptional misregulation in cancer CCND1-IgH (translocation) [HSA:595] [KO:K04503]
CCND3-IgH (translocation) [HSA:896] [KO:K10152]
IgH-FGFR3 (translocation) [HSA:2261] [KO:K05094]
IgH-MMSET (translocation) [HSA:7468] [KO:K11424]
IgH-MAF (translocation) [HSA:4094] [KO:K09035]
N-ras (activating mutation) [HSA:4893] [KO:K07828]
K-ras (activating mutation) [HSA:3845] [KO:K07827]
c-MYC (dysregulation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
H00034 Carcinoid ... endocrine neoplasia (MEN) syndrome, a rare familiar tumor syndrome in which mutations in the MEN1 gene are manifested. Recently, it has been shown that a majority (78%) of sporadic carcinoids display loss of heterozygosity ... Cancer hsa05202 Transcriptional misregulation in cancer MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]
H00068 Leber hereditary optic atrophy
Leber optic atrophy
... results in the loss of central vision. In most of the patients with LHON, visual dysfunction is the only manifestation of the disease. The incidence of LHON in Western Europe is 1/30000-1/50000; at least 1 in ... Nervous system disease; Congenital disorder of metabolism hsa00190 Oxidative phosphorylation ND1 [HSA:4535] [KO:K03878]
ND2 [HSA:4536] [KO:K03879]
ND4 [HSA:4538] [KO:K03881]
ND4L [HSA:4539] [KO:K03882]
ND5 [HSA:4540] [KO:K03883]
ND6 [HSA:4541] [KO:K03884]
CYTB [HSA:4519] [KO:K00412]
COX1 [HSA:4512] [KO:K02256]
COX3 [HSA:4514] [KO:K02262]
ATP6 [HSA:4508] [KO:K02126]
H00080 Systemic lupus erythematosus ... nuclear proteins and certain cytoplasmic components, in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis ... Immune system disease hsa05322 Systemic lupus erythematosus HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
C2 (deletion) [HSA:717] [KO:K01332]
C4 (null alleles) [HSA:720] [KO:K03989]
TNF-alpha (polymorphism) [HSA:7124] [KO:K03156]
Fc gamma RIIA (polymorphism) [HSA:2212] [KO:K06472]
Fc gamma RIIB (polymorphism) [HSA:2213] [KO:K12560]
Fc gamma RIIIA (polymorphism) [HSA:2214] [KO:K06463]
Fc gamma RIIIB (polymorphism) [HSA:2215] [KO:K06463]
PARP (polymorphism)
CRP (polymorphism) [HSA:1401] [KO:K16143]
TLR5 (polymorphism) [HSA:7100] [KO:K10168]
PDCD1 (polymorphism) [HSA:5133] [KO:K06744]
OAZ (polymorphism) [HSA:23090] [KO:K22870]
H00088 Common variable immunodeficiency ... heterogeneous group of disorders involving both B-cell and T-cell immune function, the predominant manifestation of which is hypogammaglobulinemia. CVID is characterized by recurrent bacterial infections ... Primary immunodeficiency hsa05340 Primary immunodeficiency (CVID1) ICOS [HSA:29851] [KO:K06713]
(CVID2) TACI [HSA:23495] [KO:K05150]
(CVID3) CD19 [HSA:930] [KO:K06465]
(CVID4) TNFRSF13C [HSA:115650] [KO:K05151]
(CVID5) MS4A1 [HSA:931] [KO:K06466]
(CVID6) CD81 [HSA:975] [KO:K06508]
(CVID7) CR2 [HSA:1380] [KO:K04012]
(CVID8) LRBA [HSA:987] [KO:K24181]
(CVID10) NFKB2 [HSA:4791] [KO:K04469]
(CVID11) IL21 [HSA:59067] [KO:K05434]
(CVID12) NFKB1 [HSA:4790] [KO:K02580]
(CVID13) IKZF1 [HSA:10320] [KO:K09220]
(CVID14) IRF2BP2 [HSA:359948] [KO:K22383]
H00097 Chemokine receptor defect ... CXCR4 display enhanced responses to the receptor ligand CXCL12, including chemotaxis, which likely impair their trafficking and contribute to the immunohematologic clinical manifestations of the syndrome. Primary immunodeficiency hsa04060 Cytokine-cytokine receptor interaction CXCR4 [HSA:7852] [KO:K04189]
H00101 Other phagocyte defects ... dehydrogenase (G6PD) deficiency is a X-chromosomally transmitted disorder. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually ... Primary immunodeficiency CHS1 [HSA:1130] [KO:K22937]
MYO5A [HSA:4644] [KO:K10357]
RAB27A [HSA:5873] [KO:K07885]
MLPH [HSA:79083] [KO:K22235]
ACTB [HSA:60] [KO:K05692]
CEBPE [HSA:1053] [KO:K10051]
MPO [HSA:4353] [KO:K10789]
G6PD [HSA:2539] [KO:K00036]
SBDS [HSA:51119] [KO:K14574]
H00107 Other well-defined immunodeficiency syndromes ... mycobacterial infections. X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency, with manifestations ranging from fatal infectious mononucleosis to B cell lymphomas and hypogammaglobulinemia ... Primary immunodeficiency hsa05340 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]
H00108 Autoimmune lymphoproliferative syndromes ... lymphoproliferative syndrome (ALPS) is an autosomal dominant disorder with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes in the spleen and lymph ... Primary immunodeficiency hsa04210 Apoptosis (ALPS1A) TNFRSF6 (Fas) [HSA:355] [KO:K04390]
(ALPS1B) TNFSF6 (Fas ligand) [HSA:356] [KO:K04389]
(ALPS2A) Caspase 10 [HSA:843] [KO:K04400]
(ALPS2B) Caspase 8 [HSA:841] [KO:K04398]
(ALPS3) PRKCD [HSA:5580] [KO:K06068]
(ALPS4) N-Ras [HSA:4893] [KO:K07828]
(ALPS5) CTLA4 [HSA:1493] [KO:K06538]
H00118 Congenital disorders of glycosylation type I ... in Europe. Almost all type present in infancy. These diseases demonstrate a broad range of clinical manifestation, associated with developmental delay, psychomotor retardation, hypotonia, seizures, hepatomegaly ... Inherited metabolic disease hsa00510 N-Glycan biosynthesis
hsa00051 Fructose and mannose metabolism
hsa04141 Protein processing in endoplasmic reticulum
(CDG-Ia) PMM2 [HSA:5373] [KO:K17497]
(CDG-Ib) MPI [HSA:4351] [KO:K01809]
(CDG-Ic) ALG6 [HSA:29929] [KO:K03848]
(CDG-Id) ALG3 [HSA:10195] [KO:K03845]
(CDG-Ie) DPM1 [HSA:8813] [KO:K00721]
(CDG-If) MPDU1 [HSA:9526] [KO:K09660]
(CDG-Ig) ALG12 [HSA:79087] [KO:K03847]
(CDG-Ih) ALG8 [HSA:79053] [KO:K03849]
(CDG-Ii) ALG2 [HSA:85365] [KO:K03843]
(CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001]
(CDG-Ik) ALG1 [HSA:56052] [KO:K03842]
(CDG-IL) ALG9 [HSA:79796] [KO:K03846]
(CDG-Im) DOLK [HSA:22845] [KO:K00902]
(CDG-In) RFT1 [HSA:91869] [KO:K06316]
(CDG-Io) DPM3 [HSA:54344] [KO:K09659]
(CDG-Ip) ALG11 [HSA:440138] [KO:K03844]
(CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345]
(CDG-Ir) DDOST [HSA:1650] [KO:K12670]
(CDG-Is) ALG13 [HSA:79868] [KO:K07432]
(CDG-It) PGM1 [HSA:5236] [KO:K01835]
(CDG-Iu) DPM2 [HSA:8818] [KO:K09658]
(CDG-Iv) NGLY1 [HSA:55768] [KO:K01456]
(CDG-Iw) STT3A [HSA:3703] [KO:K07151]
(CDG-Ix) STT3B [HSA:201595] [KO:K07151]
(CDG-Iy) SSR4 [HSA:6748] [KO:K04571]
(CDG-Iz) CAD [HSA:790] [KO:K11540]
(CDG-Iaa) NUS1 [HSA:116150] [KO:K19177]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment. Type 3 is an intermediate disorder with mild-to-moderate neurologic manifestations. Inherited metabolic disease; Lysosomal storage disease hsa00603 Glycosphingolipid biosynthesis - globo and isoglobo series
hsa04142 Lysosome
NAGA; alpha-N-acetylgalactosaminidase [HSA:4668] [KO:K01204]
H00155 Familial hypercholesterolemia
Autosomal dominant hypercholesterolaemia
... is characterized by severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. Patients have a significantly elevated risk of early coronary heart disease. Inherited metabolic disease; Cardiovascular disease hsa04976 Bile secretion
hsa04144 Endocytosis
LDLR [HSA:3949] [KO:K12473]
APOB [HSA:338] [KO:K14462]
PCSK9 [HSA:255738] [KO:K13050]
H00194 Lesch-Nyhan syndrome
Hypoxanthine-guanine phosophoribosyltransferase deficiency
... hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological manifestations. Inherited metabolic disease; Nervous system disease hsa00230 Purine metabolism HPRT1; hypoxanthine phosphoribosyltransferase [HSA:3251] [KO:K00760]
H00197 Adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures. Inherited metabolic disease; Nervous system disease hsa00230 Purine metabolism
hsa00250 Alanine, aspartate and glutamate metabolism
ADSL; adenylosuccinate lyase [HSA:158] [KO:K01756]
H00202 Hepatic porphyria Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic. Congenital disorder of metabolism hsa00860 Porphyrin and chlorophyll metabolism (PCT) UROD; uroporphyrinogen decarboxylase [HSA:7389] [KO:K01599]
(AIP) HMBS; hydroxymethylbilane synthase [HSA:3145] [KO:K01749]
(VP) PPOX; protoporphyrinogen oxidase [HSA:5498] [KO:K00231]
(ALADP) ALAD; porphobilinogen synthase [HSA:210] [KO:K01698]
(HCP) CPOX; coproporphyrinogen III oxidase [HSA:1371] [KO:K00228]
H00239 Bartter syndrome Bartter syndrome (BARTS) is a heterogeneous rare disease unified by autosomal recessive transmission. BS is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated ... Endocrine and metabolic disease hsa04960 Aldosterone-regulated sodium reabsorption (BARTS1) SLC12A1 [HSA:6557] [KO:K14425]
(BARTS2) KCNJ1 [HSA:3758] [KO:K04995]
(BARTS3) CLCNKB [HSA:1188] [KO:K05018]
(BARTS4A) BSND [HSA:7809] [KO:K19331]
(BARTS4B) CLCNKA,CLCNKB (double mutation) [HSA:1187 1188] [KO:K05017 K05018]
(BARTS5) MAGED2 [HSA:10916] [KO:K24127]
(HYPOC1) CASR [HSA:846] [KO:K04612]
H00291 Familial chilblain lupus (FCL)
Chilblain lupus erythematosus (CHLE)
Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus ... Immune system disease hsa04623 Cytosolic DNA-sensing pathway TREX1 [HSA:11277] [KO:K10790]
H00292 Hypertrophic cardiomyopathy ... model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction. Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy MYH7 (mutation) [HSA:4625] [KO:K17751]
TNNT2 (mutation) [HSA:7139] [KO:K12045]
MYBPC3 (mutation) [HSA:4607] [KO:K12568]
TPM1 (mutation) [HSA:7168] [KO:K10373]
TNNI3 (mutation) [HSA:7137] [KO:K12044]
MYL2 (mutation) [HSA:4633] [KO:K10351]
MYL3 (mutation) [HSA:4634] [KO:K12749]
ACTC1 (mutation) [HSA:70] [KO:K12314]
TTN (mutation) [HSA:7273] [KO:K12567]
MYH6 (mutation) [HSA:4624] [KO:K17751]
PRKAG2 (mutation) [HSA:51422] [KO:K07200]
CSRP3 (mutation) [HSA:8048] [KO:K09377]
TNNC1 (mutation) [HSA:7134] [KO:K05865]
VCL (mutation) [HSA:7414] [KO:K05700]
H00297 Plague ... rodent reservoirs and is transmitted to humans usually by fleas as vectors. There are three major manifestations: bubonic, septicemic, and pneumonic plagues. Severe epidemics in the past include the Plague ... Infectious disease
H00308 Vibrio vulnificus infection Vibrio vulnificus is a gram-negative bacillus found in warm coastal waters. It causes two distinct syndromes: a primary septicemia related to seafood consumption and a necrotizing wound infection acquired ... Infectious disease
H00317 Melioidosis ... water and is endemic in areas of Southeast Asia and Northern Australia. There are many possible disease manifestations including melioidosis septic shock, pneumonia, and hepatic and splenic abscesses. Infectious disease
H00321 Campylobacter infection
Campylobacteriosis
... commonly, C. jejuni infection also causes bacteremia, septic arthritis, and other extraintestinal manifestations. Serious sequelae of Campylobacter infection are reported, including Guillian-Barre and ... Infectious disease
H00325 Brucellosis ... Africa, and western Asia. Consumption of contaminated foods is the sources of infection. The clinical presentation can vary from asymptomatic infection to a fever, night sweats, and joint manifestations. Infectious disease
H00326 Bartonellosis ... and bites. Human bartonellosis is a group of diseases with a rapidly increasing clinical spectrum. Only a handful of more than 20 members of the genus are known to be of medical significance in humans. Infectious disease
H00337 Tetanus ... wounds. Mortality rate among untreated patients is high. Tetanus affects the muscles and nerves and manifests as muscle spasms in the jaw (lockjaw). Tetanus can be prevented by getting the tetanus vaccine Infectious disease
H00346 Extrinsic allergic alveolitis
Hypersensitivity pneumonitis
... expression depends on the frequency and amount of contact with antigen and host susceptibility. The manifestations and symptoms can be complicated by self-regulatory measures performed by those affected ... Immune system disease; Respiratory disease; Infectious disease
H00350 Psittacosis
Parrot fever
... transmitted to humans from birds. Symptoms typically include high fevers, headache, myalgias, and a nonproductive cough. Although pneumonia is the most common manifestation, all organ systems can be involved. Infectious disease
H00352 Whipple disease ... features of WD are non-specific and histological lesions in gastrointestinal system can be the major manifestations. Patients without symptoms of gastrointestinal disease might be insufficiently treated, ... Infectious disease
H00353 Lyme borreliosis
Lyme disease
... infectious disease caused by the tick-borne spirochetes Borrelia. Localized infection is typically manifested by erythema migrans skin lesions. A broad variety of peripheral nerve disorders (Lyme neuroborreliosis) ... 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
H00396 Mumps Mumps is an acute systemic viral infection classically manifested by inflammation of parotid glands and fever. Mortality is rare, but it is often accompanied by more serious complications such as aseptic ... Infectious disease
H00404 Erythema infectiosum
Fifth disease
... 19 also causes a wide range of clinical complications, including thrombocytopenia and neurological manifestations in immunocompromised patients and intrauterine fetal death in primary infected pregnant ... Infectious disease
H00407 Peroxisomal beta-oxidation enzyme deficiency ... peroxisomes for beta-oxidation. The enzyme defects result in the accumulation of these fatty acids in many organs. The clinical manifestations mimic those of the Zellweger syndrome spectrum. [DS:H00205] Congenital disorder of metabolism hsa00120 Primary bile acid biosynthesis
hsa01040 Biosynthesis of unsaturated fatty acids
hsa03320 PPAR signaling pathway
hsa04146 Peroxisome
ACOX1 [HSA:51] [KO:K00232]
HSD17B4 [HSA:3295] [KO:K12405]
AMACR [HSA:23600] [KO:K01796]
SCP2 [HSA:6342] [KO:K08764]
H00416 Omsk hemorrhagic fever ... presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic manifestations. Dermacentor reticulatus ticks are the main vector of Omsk hemorrhagic fever virus, but ... Infectious disease
H00469 Mitochondrial DNA depletion syndrome ... recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Some genes ... Inherited metabolic disease; Mitochondrial disease hsa00240 Pyrimidine metabolism
hsa00230 Purine metabolism
hsa00020 Citrate cycle (TCA cycle)
(MTDPS1) TYMP [HSA:1890] [KO:K00758]
(MTDPS2) TK2 [HSA:7084] [KO:K00857]
(MTDPS3) DGUOK [HSA:1716] [KO:K00904]
(MTDPS4A/4B) POLG [HSA:5428] [KO:K02332]
(MTDPS5) SUCLA2 [HSA:8803] [KO:K01900]
(MTDPS6) MPV17 [HSA:4358] [KO:K13348]
(MTDPS7) PEO1 [HSA:56652] [KO:K17680]
(MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808]
(MTDPS9) SUCLG1 [HSA:8802] [KO:K01899]
(MTDPS10) AGK [HSA:55750] [KO:K09881]
(MTDPS11) MGME1 [HSA:92667] [KO:K19465]
(MTDPS12) SLC25A4 [HSA:291] [KO:K05863]
(MTDPS13) FBXL4 [HSA:26235] [KO:K10270]
(MTDPS14) OPA1 [HSA:4976] [KO:K17079]
(MTDPS15) TFAM [HSA:7019] [KO:K11830]
H00488 MCAD deficiency
Medium-chain acyl-CoA dehydrogenase deficiency
ACADM deficiency
... commonly recognized defect of mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy ... Inherited metabolic disease; Mitochondrial disease hsa00071 Fatty acid degradation
hsa01212 Fatty acid metabolism
ACADM [HSA:34] [KO:K00249]
H00506 Osteogenesis imperfecta ... by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in individuals with osteogenesis imperfecta. Mutations in the other genes have been recently identified Congenital malformation (OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236]
(OI2/3/4) COL1A2 [HSA:1278] [KO:K06236]
(OI5) IFITM5 [HSA:387733] [KO:K06566]
(OI6) SERPINF1 [HSA:5176] [KO:K19614]
(OI7) CRTAP [HSA:10491] [KO:K19606]
(OI8) LEPRE1 [HSA:64175] [KO:K08134]
(OI9) PPIB [HSA:5479] [KO:K03768]
(OI10) SERPINH1 [HSA:871] [KO:K09501]
(OI11) FKBP10 [HSA:60681] [KO:K09575]
(OI12) SP7 [HSA:121340] [KO:K09197]
(OI13) BMP1 [HSA:649] [KO:K05502]
(OI14) TMEM38B [HSA:55151] [KO:K24013]
(OI15) WNT1 [HSA:7471] [KO:K03209]
(OI16) CREB3L1 [HSA:90993] [KO:K09048]
(OI17) SPARC [HSA:6678] [KO:K24262]
H00514 Bruck syndrome ... recessively-inherited form of osteogenesis imperfecta in combination with pterygium formation across large joints. In Bruck syndrome, joint mobility is significantly reduced, showing arthrogryposis multiplex congenita. Congenital malformation PLOD2 [HSA:5352] [KO:K13645]
FKBP10 [HSA:60681] [KO:K09575]
H00531 Venous malformations ... extremities, usually nodular and associated with abnormal smooth muscle-like 'glomus cells'. Most cases are unifocal, with extensive venous malformations accounting for only one percent of cases and more commonly ... Congenital malformation (sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121]
(glomuvenous) GLMN [HSA:11146] [KO:K23345]
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