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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01373 | Achromobacter xylosoxidans infection | ... environmental opportunistic pathogen that causes nosocomial infections targeting immunocompromised patients suffering from cancer, advanced HIV, diabetes mellitus or chronic renal failure. This bacterium can rarely ... | Bacterial infectious disease | ||
| H01375 | Glucose 6-phosphate dehydrogenase deficiency | ... X-linked, hereditary disorder due to mutations in the G6PD gene, resulting in protein variants with different levels of enzyme activity, that are associated with a wide range of biochemical and clinical phenotypes ... | Inherited metabolic disorder | G6PD [HSA:2539] [KO:K00036] | |
| H01388 | Hyperprolactinemia | ... to pregnancy is a disorder characterized by excess production of prolactin (PRL) and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiological hyperprolactinemia is caused mainly ... | Endocrine and metabolic disease | PRLR [HSA:5618] [KO:K05081] | |
| H01395 | Autosomal recessive progressive external ophthalmoplegia | ... accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations in six different genes have been described to cause the autosomal dominant PEO (PEOA). Conversely, the autosomal ... | Nervous system disease |
(PEOB1) POLG [HSA:5428] [KO:K02332] (PEOB2) RNASEH1 [HSA:246243] [KO:K03469] (PEOB3) TK2 [HSA:7084] [KO:K00857] (PEOB4) DGUOK [HSA:1716] [KO:K00904] (PEOB5) TOP3A [HSA:7156] [KO:K03165] (PEOB6) RRM1 [HSA:6240] [KO:K10807] |
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| H01400 | Secondary hyperammonemia | ... periportal hepatocytes. The function of the urea cycle may be affected in a secondary way in a number of different situations. For example, intermediary metabolites that accumulate due to enzymatic defects in ... | Inherited metabolic disorder |
MMUT [HSA:4594] [KO:K01847] PCCA [HSA:5095] [KO:K01965] PCCB [HSA:5096] [KO:K01966] IVD [HSA:3712] [KO:K00253] ACADM [HSA:34] [KO:K00249] ETFDH [HSA:2110] [KO:K00311] ETFA [HSA:2108] [KO:K03522] ETFB [HSA:2109] [KO:K03521] CPT2 [HSA:1376] [KO:K08766] SLC25A20 [HSA:788] [KO:K15109] SLC7A7 [HSA:9056] [KO:K13867] ALDH18A1 [HSA:5832] [KO:K12657] PC [HSA:5091] [KO:K01958] OAT [HSA:4942] [KO:K00819] CA5A [HSA:763] [KO:K01672] GLUD1 [HSA:2746] [KO:K00261] TMEM70 [HSA:54968] [KO:K17966] GLUL [HSA:2752] [KO:K01915] |
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| H01423 | Penicillin-resistant Streptococcus pneumoniae infection | ... community-acquired pneumonia. It is also a major cause of bacteremia. Pneumococcal antibiotic resistance towards different families of antibiotics, in particular, penicillin and the macrocodes, continues to be a much-debated ... | Bacterial infectious disease | ||
| H01425 | Lysosomal storage disease | ... enzyme-replacement therapy can be effective. LSDs are divided into the following 5 groups. For details, please refer to the each entry. 1. Defects in glycan degradation: Fabry disease, Mucopolysaccharidosis, Glycoproteinoses ... | Inherited metabolic disorder | ||
| H01426 | Invasive streptococcal disease | ... mortality. One of clinical presentations is group A streptococcal toxic shock syndrome, which is differentiated from other types of this disease by the occurrence of shock and multi-organ system failure ... | Bacterial infectious disease | ||
| H01433 | Budd-Chiari syndrome | ... heterogeneous group of disorders characterized by hepatic venous outflow obstruction at the hepatic veins or inferior vena cava. Clinically, the disease is characterized by hepatomegaly, manifestations of portal ... | Digestive system disease |
F5 [HSA:2153] [KO:K03902] JAK2 [HSA:3717] [KO:K04447] |
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| H01441 | Pseudomonas aeruginosa infection | ... systems such as multidrug efflux pumps or antibiotic inactivating enzymes. Some strains acquire increased resistance via the horizontal transfer of resistance determinants and mutations in chromosomal genes. | Bacterial infectious disease | ||
| H01453 | Obsessive-Compulsive and Related Disorder | ... anxiety disorders. Although OCD and anxiety disorders often share core clinical feature, significant differences also exist in effective first-line pharmacological interventions. Patients with anxiety disorders ... | Mental and behavioural disorder | ||
| H01457 | Diabetic retinopathy | ... world. The development of DR is divided into two stages: in the early stages, also called as nonproliferative stage, it is asymptomatic because the signs are not visible to the eye. however, some defects ... | 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] |
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| H01460 |
West syndrome Infantile spasms |
... disorders, and genetic syndromes such as Down's syndrome. The treatment options are hormonal therapy (adrenocorticotropic hormone ACTH, glucocorticosteroids) or the GABA aminotransferase inhibitor vigabatrin. | Nervous system disease | ARX [HSA:170302] [KO:K09452] | |
| H01470 | Giant cell tumor of bone | ... produce RANKL that recruits monocytic osteoclast precursors from blood to the tumor, and stimulates differentiation into multinucleated giant cells. Recently, denosumab (RANKL inhibitor) has become a new ... | Cancer |
RANKL (overexpression) [HSA:8600] [KO:K05473] H3F3A (mutation) [HSA:3020] [KO:K11253] TP53 (mutation) [HSA:7157] [KO:K04451] HRAS (mutation) [HSA:3265] [KO:K02833] |
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| H01479 | Castleman disease | Castleman disease is a rare lymphoproliferative disorder with two primary subtypes that vary in presentation and course. Unicentric Castleman disease is localized and carries an excellent prognosis. Multicentric ... | Immune system disease | IL6 [HSA:3569] [KO:K05405] | |
| H01482 | Infantile hemangioma | Infantile hemangiomas (IH) are neoplastic proliferations of vascular endothelial cells (ECs), characterized by a period of growth after birth, and eventual spontaneous involution. Forty percent of the ... | Neoplasm |
TEM8 [HSA:84168] [KO:K20909] VEGFR2 [HSA:3791] [KO:K05098] |
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| H01488 |
Hyperphosphatasia with mental retardation syndrome Mabry syndrome |
... elevated levels of serum alkaline phosphatase, often accompanied by seizures, facial dysmorphism, and various anomalies such as brachytelephalangy. Mutation in different genes result in phenotypic variation. | Inherited metabolic disorder |
(HPMRS1) PIGV [HSA:55650] [KO:K07542] (HPMRS2) PIGO [HSA:84720] [KO:K05288] (HPMRS3) PGAP2 [HSA:27315] [KO:K23552] (HPMRS4) PGAP3 [HSA:93210] [KO:K23553] (HPMRS5) PIGW [HSA:284098] [KO:K05283] (HPMRS6) PIGY [HSA:84992] [KO:K11001] |
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| H01490 | Multiple sclerosis | ... levels is involved. Authorized first-line treatments are considered equally effective, and include interferon beta and glatiramer acetate. They are primarily directed against inflammation, and might fail to ... | Immune system disease |
(MS) PDCD1 [HSA:5133] [KO:K06744] (MS) HLA-DRB1 [HSA:3123] [KO:K06752] (MS) HLA-DQB1 [HSA:3119] [KO:K06752] (MS5) TNFRSF1A [HSA:7132] [KO:K03158] |
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| H01491 |
Neuromyelitis optica Devic disease |
... NMO was considered to be a subtype of multiple sclerosis (MS), but prognosis and optimal treatments differ. Corticosteroids and plasma exchange (PLEX) are the most commonly used therapeutic modalities in ... | Immune system disease | ||
| H01493 |
Localized Scleroderma Morphea |
... subcutaneous tissue, fascia, and underlying muscles and bone may also be involved. It is generally differentiated from systemic scleroderma by the lack of Raynaud's phenomenon and visceral involvements. ... | Immune system disease; Skin disease | (DPMC) STAT4 [HSA:6775] [KO:K11222] | |
| H01495 | Meniere disease | ... peripheral vestibular apparatus. Although the familial clustering and the geographical and racial differences in incidence suggest a certain role for genetic factors in the development of Meniere disease ... | Nervous system disease | ||
| H01496 | Spondyloocular syndrome | ... autosomal recessive disorder due to mutations in the XYLT2 gene. XYLT2 encodes one of the xylosyltransferases involved in proteoglycan biosynthesis. The affected individuals were found to produce lower amount ... | Congenital malformation | XYLT2 [HSA:64132] [KO:K00771] | |
| H01503 | Zygomycosis | ... Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce different infections. Genera from the order Mucorales cause an angioinvasive infection called mucormycosis ... | Fungal infectious disease | ||
| H01507 | Seronegative arthritis | Seronegative spondyloarthropathies (SpA) represent a group of chronic articular inflammatory diseases which differ from rheumatoid arthritis for the typical absence of rheumatoid factor in serum, and have in common ... | Immune system disease | HLA-B [HSA:3106] [KO:K06751] | |
| H01510 |
Malignant paraganglioma Pheochromocytoma |
... sporadic cases. Sporadic as well as hereditary PGLs have been divided in two main clusters linked to two different signalling pathways: the first cluster contains all VHL-, SDHx-, and FH- mutated tumors and is ... | Cancer |
SDHD [HSA:6392] [KO:K00237] SDHB [HSA:6390] [KO:K00235] SDHC [HSA:6391] [KO:K00236] NF1 [HSA:4763] [KO:K08052] RET [HSA:5979] [KO:K05126] VHL [HSA:7428] [KO:K03871] TMEM127 [HSA:55654] [KO:K25206] MAX [HSA:4149] [KO:K04453] KIF1B [HSA:23095] [KO:K10392] EPAS1 [HSA:2034] [KO:K09095] FH [HSA:2271] [KO:K01679] |
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| H01511 | Mast-cell leukemia | ... kinase (PI3K)/AKT, are inappropriately activated, and this is believed to contribute to the abnormal proliferation and survival of these neoplastic cells. The reason of poor prognosis of MCL patients is mostly ... | Cancer | KIT (mutation) [HSA:3815] [KO:K05091] | |
| H01512 | Langerhans cell histiocytosis | Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by a clonal proliferation of specialized cells with characteristics resembling antigen-presenting cells that reside in the ... | Cancer |
BRAF (mutation) [HSA:673] [KO:K04365] MAP2K1 (mutation) [HSA:5604] [KO:K04368] |
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| H01516 |
Adult onset Still disease Adult Still disease |
... neutrophilic leukocytosis, abnormal liver function tests, and elevated acute-phase reactants (ESR, CRP, ferritin). The exact pathogenesis of AOSD is unknown. Several factors such as genetics, infectious (bacterial ... | Immune system disease | ||
| H01519 | Scabies | ... ectoparasitic mite Sarcoptes scabiei. Scabies is a contagious cutaneous inflammation and common among many different species of animals. S. scabiei burrows into the skin of their host, reproducing and laying eggs ... | Parasitic infectious disease | ||
| H01551 |
Interstitial cystitis Bladder pain syndrome |
Interstitial cystitis (IC), also referred to as bladder pain syndrome (BPS), is a chronic non-infectious inflammatory condition characterized by recurring discomfort, pain or pressure in the bladder and ... | Urinary system disease | ||
| H01561 |
Chiari malformation Arnold-Chiari syndrome |
Chiari malformations, also known as Arnold-Chiari syndrome, is a group of syndromes consisting of different kinds of pathologic conditions of the posterior fossa development. They are congenital in most ... | Congenital malformation | ||
| H01563 | HIV infection | ... type is concentrated in West Africa and is rarely found elsewhere. Infection with HIV occurs by transfer of blood, semen, and breast milk. The identification of HIV as the causative agent of AIDS catalyzed ... | Viral infectious disease | hsa05170 Human immunodeficiency virus 1 infection |
CCR5 (resistance) [HSA:1234] [KO:K04180] CCR2 (resistance) [HSA:729230] [KO:K04177] TLR3 (resistance) [HSA:7098] [KO:K05401] CXCL12 (resistance) [HSA:6387] [KO:K10031] CCL2 (resistance) [HSA:6347] [KO:K14624] CCL3 (resistance) [HSA:6348] [KO:K05408] CCL11 (resistance) [HSA:6356] [KO:K16597] IL10 (susceptibility) [HSA:3586] [KO:K05443] CD209 (susceptibility) [HSA:30835] [KO:K06563] HLA-C (susceptibility) [HSA:3107] [KO:K06751] CCL3L1 (susceptibility) [HSA:6349] [KO:K05408] IFNG (rapid progression) [HSA:3458] [KO:K04687] CX3CR1 (rapid progression) [HSA:1524] [KO:K04192] CXCR1 (slow progression) [HSA:3577] [KO:K04175] IL4R (slow progression) [HSA:3566] [KO:K05071] CCL5 (delayed/rapid progression) [HSA:6352] [KO:K12499] KIR3DL1 (delayed/rapid progression) [HSA:3811] [KO:K07980] |
| H01571 | Singleton-Merten syndrome | ... periodontitis and root resorption), osteopenia, and acro-osteolysis. A gain-of-function mutation in interferon induced with helicase C domain 1 (IFIH1), encoding melanoma differentiation-associated protein ... | Congenital malformation |
(SGMRT1) IFIH1 [HSA:64135] [KO:K12647] (SGMRT2) RIGI [HSA:23586] [KO:K12646] |
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| H01576 |
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) Spondyloenchondrodysplasia (SPENCD) |
... resembling systemic lupus erythematosus (SLE) are commonly observed. Furthermore, patients may also suffer from recurrent infections. SPENCD is caused by biallelic mutations in ACP5, encoding tartrate-resistant ... | Congenital malformation | ACP5 [HSA:54] [KO:K14379] | |
| H01578 | Subacute myelo-optico-neuropathy (SMON) | ... began solving the cause of SMON. The green color was derived from a chelate compound of clioquinol with ferric iron. A large number of SMON were observed throughout Japan, and the total number of cases reached ... | Neurodegenerative disease | ||
| H01579 |
Congenital symmetric circumferential skin creases Kunze-Riehm syndrome Michelin tire baby syndrome |
Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described ... | Congenital malformation |
(CSCSC1) TUBB [HSA:203068] [KO:K07375] (CSCSC2) MAPRE2 [HSA:10982] [KO:K10436] |
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| H01583 |
Hydroxykynureninuria Xanthurenic aciduria Kynureninase deficiency |
... symptoms, while it was reported in some patients no symptom of niacin deficiency was observed. The different clinical outcomes could be explained by differences in the intake of niacin. The sufficient intake ... | Inherited metabolic disorder | KYNU [HSA:8942] [KO:K01556] | |
| H01587 | Disseminated intravascular coagulation | ... characterised by the intravascular activation of coagulation with loss of localisation arising from different causes. It can originate from and cause damage to the microvasculature, which if sufficiently ... | Hematologic disease | ||
| H01590 | Chronic eosinophilic leukemia | Chronic eosinophilic leukemia (CEL) is a chronic myeloproliferative disease of unknown etiology in which a clonal proliferation of eosinophilic precursors results in a persistently elevated number of eosinophils ... | Cancer |
FIP1L1-PDGFRA (deletion) [HSA:5156] [KO:K04363] BCR-PDGFRA (translocation) [HSA:5156] [KO:K04363] |
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| H01592 | Medullary thyroid cancer | ... disproportionate number of thyroid cancer deaths due to its more aggressive clinical behavior compared with well-differentiated papillary and follicular thyroid carcinomas. A subset of MTC cases is hereditary and due ... | Cancer |
RET [HSA:5979] [KO:K05126] HRAS [HSA:3265] [KO:K02833] KRAS [HSA:3845] [KO:K07827] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |