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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01628 | Opisthorchiasis | ... diverse clinical symptoms caused by infections with Opisthorchis felineus or Opisthorchis viverrini liver flukes, which are transmitted by eating infected raw or undercooked fish and other aquatic products. | Parasitic infectious disease | ||
| H01636 |
Fibromyalgia Fibromyalgia syndrome |
... a common and chronic pain disorder that predominantly affects women. It belongs to the group of rheumatic disorders of the soft tissues, and is characterised by widespread chronic pain, cognitive and affective ... | Musculoskeletal disease | ||
| H01638 |
Neuropathic pain Neuralgia |
... may be generated by either the peripheral or central nervous system, or both. It is especially problematic because of its severity, chronicity and resistance to simple analgesics. It may result from various ... | Nervous system disease | ||
| H01640 |
Uterine leiomyoma Fibroid |
... deletion. While it is thought that the initial events that trigger leiomyoma tumorigenesis involves somatic mutations, it is evident that the development and growth of leiomyoma are highly dependent on ovarian ... | Reproductive system disease |
HMGA2 (rearrangement) [HSA:8091] [KO:K09283] MED12 (mutation) [HSA:9968] [KO:K15162] COL4A6-COL4A5 (deletion) [HSA:1288 1287] [KO:K06237] Fumarate hydratase (FH) (inactivation) [HSA:2271] [KO:K01679] |
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| H01647 |
Subacute thyroiditis Subacute granulomatous thyroiditis De Quervain thyroiditis |
... hormone rather than synthesis of new T3 and T4. Therapy with beta blockers may be indicated for the symptomatic treatment of thyrotoxicosis. Nonsteroidal anti-inflammatory drugs are generally effective in reducing ... | Endocrine and metabolic disease | ||
| H01656 | Psoriasis | ... flaky skin, swelling, pain, and disfiguring skin lesions. Plaque psoriasis is the most common form. Other forms include flexural, guttate, nail, inverse psoriasis, erythroderma, and psoriatic arthritis. | Immune system disease; Skin disease |
(PSORS1) HLA-C [HSA:3107] [KO:K06751] (PSORS2) CARD14 [HSA:79092] [KO:K20913] (PSORS13) TRAF3IP2 [HSA:10758] [KO:K21124] (PSORS14) IL36RN [HSA:26525] [KO:K05483] (PSORS15) AP1S3 [HSA:130340] [KO:K12395] |
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| H01662 |
Generalized anxiety disorder Anxiety neurosis |
... include generalised and persistent excessive anxiety and a combination of various psychological and somatic complaints, such as threat, restlessness, irritability, sleep disturbance, tension, palpitations ... | Mental and behavioural disorder | ||
| H01667 | Medulloblastoma | ... [WNT (wingless), SHH (sonic hedgehog), Group 3, and Group 4]. Nearly all (90 %) of WNT patients have somatic missense mutations in CTNNB1 which promote protein stabilization. Alterations in SHH subgroup most ... | Cancer |
PTCH1 [HSA:5727] [KO:K06225] PTCH2 [HSA:8643] [KO:K11101] ELP1 [HSA:8518] [KO:K11373] SUFU [HSA:51684] [KO:K06229] SMO [HSA:6608] [KO:K06226] AXIN1 [HSA:8312] [KO:K02157] AXIN2 [HSA:8313] [KO:K04385] APC [HSA:324 10297] [KO:K02085] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] NF2 [HSA:4771] [KO:K16684] MEN1 [HSA:4221] [KO:K14970] KDM6A [HSA:7403] [KO:K11447] MYC (amplification) [HSA:4609] [KO:K04377] OTX2 (amplification) [HSA:5015] [KO:K18490] TERT (amplification) [HSA:7015] [KO:K11126] MDM2 (amplification) [HSA:4193] [KO:K06643] |
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| H01672 | Juvenile idiopathic arthritis | Juvenile idiopathic arthritis (JIA) is one of the most common childhood rheumatic diseases. Clinically, it is defined as arthritis of unknown origin that starts before the age of 16, and persists for at ... | Immune system disease |
IL6 [HSA:3569] [KO:K05405] MIF [HSA:4282] [KO:K07253] (JUVAR) LACC1 [HSA:144811] [KO:K05810] |
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| H01674 |
Ankylosing spondylitis Bechterew disease |
Ankylosing spondylitis (AS), formerly also known as Bechterew's disease, is a rheumatic disease of the axial skeleton that mainly affects the spine and the sacroiliac joint in the pelvis. AS is one of ... | Musculoskeletal disease | HLA-B [HSA:3106] [KO:K06751] | |
| H01676 | Normal pressure hydrocephalus | ... to disease processes that cause inflammation of the arachnoid, such as subarachnoid hemorrhage, traumatic brain injury, or meningitis. As many as half of patients with NPH have no identifiable risk factor ... | Nervous system disease | ||
| H01679 |
Intrahepatic lithiasis Intrahepatic calculosis Hepatolithiasis |
Intrahepatic lithiasis is very common disease in East Asia, characterized by the recurrent pyogenic cholangitis. The main clinical symptoms are abdominal pain, fever and jaundice. Pathologically, the intrahepatic ... | Digestive system disease | ||
| H01680 | Chronic pancreatitis | ... over time, resulting in permanent organ damage. It is usually caused by recurrent episodes of pancreatic necro-inflammation, leading to pancreatic atrophy and dysfunction. It manifests clinically as maldigestion ... | Digestive system disease | ||
| H01681 | Acute pancreatitis | ... response syndrome (SIRS). Although effective therapies for acute pancreatitis are still limited, protease inhibitors have been considered to be a potential treatment to inhibit the pancreatic inflammation. | Digestive system disease | ||
| H01686 |
Idiopathic portal hypertension Non-cirrhotic portal fibrosis Banti syndrome |
... splenomegaly, and pancytopenia. The principal pathologic changes of IPH are devastation of the intrahepatic terminal portal radicles with considerable portal fibrosis and secondary atrophy of the liver parenchyma ... | Digestive system disease | ||
| H01687 |
Extrahepatic portal vein obstruction Extrahepatic portal venous obstruction |
Extrahepatic portal vein obstruction (EHPVO) is a vascular disorder of liver characterized by obstruction and cavernomatous transformation of portal vein with or without the involvement of intrahepatic ... | Digestive system disease | ||
| H01690 | Lichen sclerosus et atrophicus | ... sclerosus is most common on the neck, shoulders, and upper portion of the trunk. It is generally asymptomatic or is occasionally pruritic and presents as flat, white, polygonal papules and atrophic white plaques ... | Immune system disease; Skin disease | ||
| H01698 |
Giant cell arteritis Temporal arteritis |
... cerebrovascular disorders. GCA is twice as common in women. It is frequently associated with polymyalgia rheumatica. Laboratory tests usually reveal high erythrocyte sedimentation rate (ESR), elevated levels of ... | Immune system disease | ||
| H01706 | Delayed endolymphatic hydrops | Delayed endolymphatic hydrops (DEH) is a disorder, characterized by episodic vertigo that develops some time after the onset of a profound, typically unilateral sensorineural hearing loss. DEH can be differentiated ... | Nervous system disease | ||
| H01708 |
Diffuse idiopathic skeletal hyperostosis Forestier disease Ankylosing hyperostosis Ossification of the anterior longitudinal ligament |
... and involves the ossification of the anterior longitudinal ligament (OALL). Although it is asymptomatic in some occasions, the disease may produce dysphagia, dysphonia, and exceptionally breathing difficulties ... | Musculoskeletal disease | ||
| H01712 |
Fulminant hepatic failure Fulminant hepatitis |
Fulminant hepatic failure (FHF) is a life-threatening condition characterized by the rapid deterioration of liver functions and hepatic encephalopathy. FHF is with the basic definition of the onset of ... | Digestive system disease | ||
| H01713 | Diffuse panbronchiolitis | ... frequently compared with cystic fibrosis, a common genetic disease encountered in Caucasians, neither pancreatic insufficiency nor any obvious abnormalities of the sweat electrolytes are seen in DPB, and the two ... | Respiratory system disease | ||
| H01719 | Optic neuropathy | ... include demyelinating, inflammatory, toxic, nutritional, compressive, infiltrative, hereditary, traumatic, and neoplastic. The classic clinical signs of optic neuropathy are visual field defect, dyschromatopsia ... | Nervous system disease | ||
| H01724 |
HTLV1-associated myelopathy Tropical spastic paraparesis |
... the etiologic agent of HAM/TSP. Although the majority of HTLV-1-infected individuals remain asymptomatic during their lifetime, approximately one percent of this population develops a myelopathy consisting ... | Immune system disease; Nervous system disease | ||
| H01727 | Primary alveolar hypoventilation syndrome | ... nervous diseases. PAHS is characterized by exacerbation of hypoxemia during sleep. Disorders of both automatic and chemical control of ventilation are considered as causes of this syndrome. PAHS occurring during ... | Respiratory system disease | ||
| H01729 |
Premature ventricular complexes Premature ventricular contractions |
... 75% on routine 24 hour to 48 hour Holter monitoring. The clinical presentation may range from asymptomatic to left ventricular (LV) dysfunction with congestive heart failure. In many patients, ectopic ventricular ... | Cardiovascular disease | ||
| H01735 | Lymphangiomatosis | ... remarkable heterogeneity in its potential presentation, including micro- and macrocystic isolated lymphatic malformations, thoracic and intraabdominal diffuse lymphangiomatosis, and osseous and soft-tissue ... | Neoplasm | ||
| H01746 | STING-associated vasculopathy with onset in infancy | ... Patients with SAVI have severe neonatal-onset small vessel vasculitis, which is expressed by telangiectatic ulcerative rashes in the limbs, earlobes, or nose, leading to microangiopathic thrombosis, vessel ... | Immune system disease | STING1 [HSA:340061] [KO:K12654] | |
| H01758 | Relapsing polychondritis | ... is purely supportive and to rule out other related or associated systemic diseases. Treatment in RP is largely symptomatic and a standard management protocol is yet to be established due to its rarity. | Musculoskeletal disease | ||
| H01760 | Hepatic glycogen storage disease | ... divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The hepatic GSDs lead to hepatomegaly and hypoglycemia due to the lack of distribution of glucose to the organism ... | Inherited metabolic disorder |
(GSB Ia) G6PC [HSA:2538] [KO:K01084] (GSB Ib) SLC37A4 [HSA:2542] [KO:K08171] (GSB IIIa/b) AGL [HSA:178] [KO:K01196] (GSB IV) GBE1 [HSA:2632] [KO:K00700] (GSB VI) PYGL [HSA:5836] [KO:K00688] (GSB IX) PHKA2 [HSA:5256] [KO:K07190] (GSB IXb) PHKB [HSA:5257] [KO:K07190] (GSB IXc) PHKG2 [HSA:5261] [KO:K00871] (GSB 0a) GYS2 [HSA:2998] [KO:K00693] |
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| H01763 | Porphyria | ... photocutaneous symptoms, and hematological disturbances. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Erythropoietic porphyrias include erythropoietic ... | Inherited metabolic disorder |
(EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP, PCT) UROD [HSA:7389] [KO:K01599] (ADP) ALAD [HSA:210] [KO:K01698] (AIP) HMBS [HSA:3145] [KO:K01749] (HCP) CPOX [HSA:1371] [KO:K00228] (VP) PPOX [HSA:5498] [KO:K00231] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
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| H01775 |
PCDH19-related epilepsy syndrome Early infantile epileptic encephalopathy 9 Epilepsy with mental retardation limited to females |
... recently renamed early infantile epileptic encephalopathy 9 (EIEE9). It was transmitted via asymptomatic males, suggesting an unusual X-linked inheritance with selective involvement of females. Mutations ... | Nervous system disease | PCDH19 [HSA:57526] [KO:K16499] | |
| H01784 | Primary hyperchylomicronemia | ... hyperlipoproteinemia) [DS:H00157], can present later in life and is characterized by increased levels of hepatically derived triglyceride-rich lipoproteins and triglyceride-rich remnant particles together with ... | Inherited metabolic disorder |
LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001] LMF1 [HSA:64788] [KO:K23555] APOA5 [HSA:116519] [KO:K09025] |
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| H01788 | Klippel-Trenaunay-Weber syndrome | ... or soft tissue hypertrophy causing limb asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary ... | Congenital malformation | ||
| H01807 | Hereditary diffuse leukoencephalopathy with spheroids | ... parkinsonism, seizures and other phenotypes. HDLS is a rare progressive neurodegenerative disease with symptomatic onset in midlife and death within a few years after symptom onset. White matter lesions with accumulation ... | Neurodegenerative disease |
(HDLS1) CSF1R [HSA:1436] [KO:K05090] (HDLS2) AARS1 [HSA:16] [KO:K01872] |
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| H01809 | Sturge-Weber syndrome | ... have also been described in the absence of a PWS and may represent another partial variant of SWS. A somatic activating missense mutation in the GNAQ gene was recently identified in affected tissues (both ... | Congenital malformation | GNAQ [HSA:2776] [KO:K04634] | |
| H01810 | Congenital myopathy | ... genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital myopathies are mainly defined by the predominant ... | Nervous system disease; Musculoskeletal disease |
(CMYP1A/1B) RYR1 [HSA:6261] [KO:K04961] (CMYP2A/2B/2C) ACTA1 [HSA:58] [KO:K10354] (CMYP3) SELENON [HSA:57190] [KO:K19874] (CMYP4) TPM3 [HSA:7170] [KO:K09290] (CMYP5) TTN [HSA:7273] [KO:K12567] (CMYP6) MYH2 [HSA:4620] [KO:K24220] (CMYP7) MYH7 [HSA:4625] [KO:K17751] (CMYP8) ACTN2 [HSA:88] [KO:K21073] (CMYP9) FXR1 [HSA:8087] [KO:K15516] (CMYP10A/10B) MEGF10 [HSA:84466] [KO:K24068] (CMYP11) HACD1 [HSA:9200] [KO:K10703] (CMYP12) CNTN1 [HSA:1272] [KO:K06759] (CMYP13) STAC3 [HSA:246329] [KO:K23713] (CMYP14) MYL1 [HSA:4632] [KO:K05738] (CMYP15) TNNC2 [HSA:7125] [KO:K12042] (CMYP16) MYBPC1 [HSA:4604] [KO:K12557] (CMYP17) MYOD1 [HSA:4654] [KO:K09064] (CMYP18) CACNA1S [HSA:779] [KO:K04857] (CMYP19) PAX7 [HSA:5081] [KO:K09381] (CMYP20) RYR3 [HSA:6263] [KO:K04963] (CMYP21) DNAJB4 [HSA:11080] [KO:K09510] (CMYP22A/22B) SCN4A [HSA:6329] [KO:K04837] (CMYP23) TPM2 [HSA:7169] [KO:K10374] (CMYP24) MYPN [HSA:84665] [KO:K22028] (CMND) SPTBN4 [HSA:57731] [KO:K06115] |
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| H01819 | Early myoclonic encephalopathy | Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern ... | Nervous system disease |
SLC25A22 [HSA:79751] [KO:K15107] SIK1 [HSA:150094] [KO:K19008] SLC1A2 [HSA:6506] [KO:K05613] CDKL5 [HSA:6792] [KO:K08824] |
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| H01823 |
Myoclonic-astatic epilepsy Doose syndrome |
Myoclonic astatic epilepsy (MAE), also known as Doose syndrome, is a generalized epilepsy syndrome of young children that includes multiple different seizure types, of which myoclonic and astatic seizures ... | Nervous system disease | ||
| H01849 | Peripheral arteriovenous malformation | ... malformations, and have a wide range of clinical presentations. Some patients may present with an asymptomatic birthmark, while in some patients, the condition may be even life-threatening, leading to congestive ... | Congenital malformation |
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