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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00061 |
Prion disease Creutzfeldt-Jacob disease (CJD) Gerstmann-Straussler disease (GSD) Gerstmann-Straussler-Scheinker disease (GSSD) Fatal familial insomnia (FFI) |
... ubiquitin-proteasome and endosomal-lysosomal systems, synaptic alterations and dendritic atrophy, corticosteroid response, and endoplasmic reticulum stress. In addition, the conformational transition could ... | Neurodegenerative disease | hsa05020 Prion disease | PRNP (mutation) [HSA:5621] [KO:K05634] |
| H00088 | Common variable immunodeficiency | ... minority of patients, and they are diverse in their influence on immune function. Homozygous mutations in ICOS are clearly the cause of disease. Heterozygous mutations in the TNF receptor family member TACI ... | Immune system disease |
(CVID1) ICOS [HSA:29851] [KO:K06713] (CVID2) TNFRSF13B [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:K27448] (CVID15) SEC61A1 [HSA:29927] [KO:K10956] |
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| 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 disorder | HPRT1 [HSA:3251] [KO:K00760] | |
| H00258 |
Aldosterone synthase deficiency Corticosterone methyloxidase type I deficiency Corticosterone methyloxidase type II deficiency |
... defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone to aldosterone. This disease is characterized by life-threatening salt-loss, failure to thrive ... | Endocrine and metabolic disease | CYP11B2 [HSA:1585] [KO:K07433] | |
| H00626 | Focal segmental glomerulosclerosis | ... associations, including genetic mutations in podocyte-associated proteins, viruses, and drug toxicities. For the initial treatment of FSGS, corticosteroid and immunosuppressive therapy is recommended. | Urinary system disease |
(FSGS1) ACTN4 [HSA:81] [KO:K05699] (FSGS2) TRPC6 [HSA:7225] [KO:K04969] (FSGS3) CD2AP [HSA:23607] [KO:K13738] (FSGS4) APOL1 [HSA:8542] [KO:K23585] (FSGS5) INF2 [HSA:64423] [KO:K23958] (FSGS6) MYO1E [HSA:4643] [KO:K10356] (FSGS7) PAX2 [HSA:5076] [KO:K15608] (FSGS8) ANLN [HSA:54443] [KO:K18621] (FSGS9) CRB2 [HSA:286204] [KO:K16681] (FSGS10) LMX1B [HSA:4010] [KO:K09371] (FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001] |
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| H00747 | Thyrotoxic hypokalemic periodic paralysis | Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by thyrotoxicosis in combination with typical episodes of hypokalemic periodic paralysis (HypoPP). People of Asian descent are most often ... | Nervous system disease; Musculoskeletal disease | KCNJ18 [HSA:100134444] [KO:K05005] | |
| H00891 | Combined oxidative phosphorylation deficiency | Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It ... | Inherited metabolic disorder, Mitochondrial disease |
(COXPD1) GFM1 [HSA:85476] [KO:K02355] (COXPD2) MRPS16 [HSA:51021] [KO:K02959] (COXPD3) TSFM [HSA:10102] [KO:K02357] (COXPD4) TUFM [HSA:7284] [KO:K02358] (COXPD5) MRPS22 [HSA:56945] [KO:K17401] (COXPD6) AIFM1 [HSA:9131] [KO:K04727] (COXPD7) MTRFR [HSA:91574] [KO:K23498] (COXPD8) AARS2 [HSA:57505] [KO:K01872] (COXPD9) MRPL3 [HSA:11222] [KO:K02906] (COXPD10) MTO1 [HSA:25821] [KO:K03495] (COXPD11) RMND1 [HSA:55005] [KO:K23499] (COXPD12) EARS2 [HSA:124454] [KO:K01885] (COXPD13) PNPT1 [HSA:87178] [KO:K00962] (COXPD14) FARS2 [HSA:10667] [KO:K01889] (COXPD15) MTFMT [HSA:123263] [KO:K00604] (COXPD16) MRPL44 [HSA:65080] [KO:K17425] (COXPD17) ELAC2 [HSA:60528] [KO:K00784] (COXPD18) SFXN4 [HSA:119559] [KO:K23502] (COXPD19) LYRM4 [HSA:57128] [KO:K22069] (COXPD20) VARS2 [HSA:57176] [KO:K01873] (COXPD21) TARS2 [HSA:80222] [KO:K01868] (COXPD22) ATP5F1A [HSA:498] [KO:K02132] (COXPD23) GTPBP3 [HSA:84705] [KO:K03650] (COXPD24) NARS2 [HSA:79731] [KO:K01893] (COXPD25) MARS2 [HSA:92935] [KO:K01874] (COXPD26) TRMT5 [HSA:57570] [KO:K15429] (COXPD27) CARS2 [HSA:79587] [KO:K01883] (COXPD28) SLC25A26 [HSA:115286] [KO:K15111] (COXPD29) TXN2 [HSA:25828] [KO:K03671] (COXPD30) TRMT10C [HSA:54931] [KO:K17654] (COXPD31) MIPEP [HSA:4285] [KO:K01410] (COXPD32) MRPS34 [HSA:65993] [KO:K17412] (COXPD33) C1QBP [HSA:708] [KO:K15414] (COXPD34) MRPS7 [HSA:51081] [KO:K02992] (COXPD35) TRIT1 [HSA:54802] [KO:K00791] (COXPD36) MRPS2 [HSA:51116] [KO:K02967] (COXPD37) MICOS13 [HSA:125988] [KO:K24624] (COXPD38) MRPS14 [HSA:63931] [KO:K02954] (COXPD39) GFM2 [HSA:84340] [KO:K02355] (COXPD40) QRSL1 [HSA:55278] [KO:K02433] (COXPD41) GATB [HSA:5188] [KO:K02434] (COXPD42) GATC [HSA:283459] [KO:K02435] (COXPD43) TIMM22 [HSA:29928] [KO:K17790] (COXPD44) FASTKD2 [HSA:22868] [KO:K18190] (COXPD45) MRPL12 [HSA:6182] [KO:K02935] (COXPD46) MRPS23 [HSA:51649] [KO:K17402] (COXPD47) MRPS28 [HSA:28957] [KO:K17407] (COXPD48) NSUN3 [HSA:63899] [KO:K21969] (COXPD49) MIEF2 [HSA:125170] [KO:K23507] (COXPD50) MRPS25 [HSA:64432] [KO:K17404] (COXPD51) PTCD3 [HSA:55037] [KO:K17659] (COXPD52) NFS1 [HSA:9054] [KO:K04487] (COXPD53) C2orf69 [HSA:205327] (COXPD54) PRORP [HSA:9692] [KO:K17655] (COXPD55) POLRMT [HSA:5442] [KO:K10908] (COXPD56) TAMM41 [HSA:132001] [KO:K17807] (COXPD57) CRLS1 [HSA:54675] [KO:K08744] (COXPD58) TEFM [HSA:79736] [KO:K17658] (COXPD59) MRPL39 [HSA:54148] [KO:K17420] |
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| H01163 | Corticosteroid-binding globulin (CBG) deficiency | Corticosteroid-binding globulin (CBG) deficiency is a rare autosomal recessive disorder associated with hypotension and fatigue. CBG is the main transport protein for glucocorticoids in blood and only ... | Endocrine and metabolic disease | SERPINA6 [HSA:866] [KO:K04525] | |
| H01269 | Congenital hyperthyroidism | ... molecular cause of congenital nonautoimmune hyperthyroidism. TSHR gene mutations also cause the familial gestational hyperthyroidism, that is characterized by thyrotoxicosis and hyperemesis gravidarum. | Endocrine and metabolic disease | TSHR [HSA:7253] [KO:K04249] | |
| 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] | |
| H01468 |
Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome |
... of the IL-10 promoter gene are the most studied genetic determinants. A combination of high-dose corticosteroids and cyclophosphamide is still the gold standard for the treatment of severe cases, but the ... | Immune system disease | ||
| H01491 |
Neuromyelitis optica Devic disease |
... 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 acute settings ... | Immune system disease | ||
| H01516 |
Adult onset Still disease Adult Still disease |
... Treatment consists of anti-inflammatory medications. Non-steroidal anti-inflammatory drugs have limited efficacy, and corticosteroid therapy and disease-modifying anti-rheumatic drugs are usually required. | Immune system disease | ||
| H01527 | Chronic inflammatory demyelinating polyradiculoneuropathy | ... studies, cerebrospinal fluid (CSF) studies, and pathologic examination. CIDP often responds to immune therapies including corticosteroids, plasma exchange, and high-dose intravenous immunoglobulin (IVIg). | Immune system disease; Nervous system disease | ||
| H01595 | Cutaneous lupus erythematosus | ... been reported that many genetic risk factors for CLE involve HLA or interferon-related pathways. Corticosteroids and antimalarials were considered as the most suitable and effective systemic drugs for CLE ... | Immune system disease; Skin disease | ||
| H01604 | Polymyositis and dermatomyositis | ... pathways in the pathogenesis of PM and DM. Treatment of inflammatory myopathies is generally empirical. Corticosteroids still remain the agents of choice for the initial treatment, but their use is limited by ... | Musculoskeletal disease | ||
| H01641 |
Dry eye disease Keratoconjunctivitis sicca |
... benefit of long-term topical anti-inflammatory treatment of moderate or severe dry eye disease with corticosteroids or cyclosporine A eye drops has been documented in clinical trials on a high evidence level ... | Nervous system disease | ||
| H01644 | Blepharitis | ... therapeutic agents that reduce infection and inflammation. Recent clinical trials have shown that antibiotics and topical corticosteroids can produce significant improvement in signs and symptoms of blepharitis. | Nervous system disease | ||
| H01645 |
Hyperthyroidism Thyrotoxicosis |
... characterised by increased thyroid hormone synthesis and secretion from the thyroid gland. The term thyrotoxicosis is not synonymous with hyperthyroidism. Thyrotoxicosis is defined as the clinical syndrome of ... | Endocrine and metabolic disease | ||
| H01647 |
Subacute thyroiditis Subacute granulomatous thyroiditis De Quervain thyroiditis |
... 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 thyroid pain in patients ... | Endocrine and metabolic disease | ||
| H01652 | Seborrheic dermatitis | ... are the first-line therapy for acute and long-term treatment of SD of the face and body. Treatment includes over-the-counter shampoos and topical antifungals, calcineurin inhibitors, and corticosteroids. | Immune system disease; Skin disease | ||
| H01657 | Nephrotic syndrome | ... resulting in massive leakage of plasma proteins into the urine. First line treatment is with oral corticosteroids, but some patients do not respond to this treatment. Steroid-resistant nephrotic syndrome ... | Urinary system disease |
(NPHS1) NPHS1 [HSA:4868] [KO:K24496] (NPHS2) NPHS2 [HSA:7827] [KO:K18268] (NPHS3) PLCE1 [HSA:51196] [KO:K05860] (NPHS4) WT1 [HSA:7490] [KO:K09234] (NPHS5) LAMB2 [HSA:3913] [KO:K06243] (NPHS6) PTPRO [HSA:5800] [KO:K18035] (NPHS7) DGKE [HSA:8526] [KO:K00901] (NPHS8) ARHGDIA [HSA:396] [KO:K12462] (NPHS9) COQ8B [HSA:79934] [KO:K08869] (NPHS10) EMP2 [HSA:2013] [KO:K26256] (NPHS11) NUP107 [HSA:57122] [KO:K14301] (NPHS12) NUP93 [HSA:9688] [KO:K14309] (NPHS13) NUP205 [HSA:23165] [KO:K14310] (NPHS14) SGPL1 [HSA:8879] [KO:K01634] (NPHS15) MAGI2 [HSA:9863] [KO:K05629] (NPHS16) KANK2 [HSA:25959] [KO:K22808] (NPHS17) NUP85 [HSA:79902] [KO:K14304] (NPHS18) NUP133 [HSA:55746] [KO:K14300] (NPHS19) NUP160 [HSA:23279] [KO:K14303] (NPHS20) TBC1D8B [HSA:54885] [KO:K19951] (NPHS21/25) AVIL [HSA:10677] [KO:K08017] (NPHS22) NOS1AP [HSA:9722] [KO:K16513] (NPHS23) KIRREL1 [HSA:55243] [KO:K25874] (NPHS24) DAAM2 [HSA:23500] [KO:K04512] (NPHS26) LAMA5 [HSA:3911] [KO:K06240] |
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| H01658 | Microscopic polyangiitis | ... substantially improved the prognosis. The standardized therapeutic regimen is based on cyclophosphamide and corticosteroids. Using this regimen, remission can be achieved in most of the patients. Rituximab may represent ... | Immune system disease | ||
| H01684 | Primary sclerosing cholangitis | ... improvements in serum hepatobiliary enzymes. UDCA has been tested alone and in combination with corticosteroids or other immunosuppressant agents. However, there is no medical treatment for PSC with enough ... | Digestive system disease | ||
| H01688 | Rapidly progressive glomerulonephritis | ... leading to the systemic small vessel vasculitis such as granulomatosis with polyangiitis (GPA). Corticosteroids and cyclophosphamide are the first-line treatment, but infection is the most common cause ... | Urinary system disease | ||
| H01690 | Lichen sclerosus et atrophicus | ... association with autoimmune diseases. Morphea may coexist with LSA. Standard treatment includes topical corticosteroid and calcineurin inhibitors, such as tacrolimus. The association between LSA and squamous cell ... | Immune system disease; Skin disease | ||
| H01704 | Sudden sensorineural hearing loss | ... hemorrhage, have been proposed as causative factors. Different treatment regimens like antioxidants, corticosteroids, vasodilators, hyperbaric oxygen (HBO), or carbogen therapy have been described. Among these ... | Nervous system disease | ||
| H01712 |
Fulminant hepatic failure Fulminant hepatitis |
... herpesvirus infection. Different therapeutic options such as complete exchange blood transfusion, corticosteroids, and plasma pheresis, have been tried. However, the overall prognosis for patients with FHF ... | Digestive system disease | ||
| H01718 |
Kawasaki disease Mucocutaneous lymph node syndrome |
... IVIG therapy and present higher risk of coronary vasculitis. If there is no response to treatment, patients are given a second dose of IVIG with or without corticosteroids or other adjunctive treatment. | Immune system disease | ||
| H01721 |
Anti-glomerular basement membrane (GBM) disease Goodpasture syndrome |
... even death. Early and intensive treatment with plasmapheresis and immunosuppression with systemic corticosteroids pending results of diagnostic testing, and later cyclophosphamide, is often beneficial, with ... | Immune system disease | ||
| H01743 | Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation | ... sinopulmonary infections presumably due to a lack of class-switched memory B cells on lymphocyte immunophenotyping. The patients were partially responsive to anakinra and to high-dose corticosteroids. | Immune system disease | PLCG2 [HSA:5336] [KO:K05859] | |
| H01761 |
Immunoglobulin G4-related disease Immunoglobulin G4-positive multi-organ lymphoproliferative syndrome |
... features of this syndrome include mass-forming lesion with fibrosis and prompt and good response to corticosteroids. This disease includes Mikulicz's disease (MD), autoimmune pancreatitis, sclerosing cholangitis ... | Immune system disease | ||
| H01788 | Klippel-Trenaunay-Weber syndrome | ... blood and lymph vessels. This disease is characterized by a classic triad of cutaneous hemangiomas, varicose veins, and bone or soft tissue hypertrophy causing limb asymmetry. Clinical presentation may vary ... | Congenital malformation | ||
| H01823 |
Myoclonic-astatic epilepsy Doose syndrome |
... retardation. Favorable outcomes were reported in half to two-thirds of cases. Treatment strategies such as corticosteroids, ethosuximide, and valproate have been described as only partially effective, but newer anticonvulsants ... | Nervous system disease | ||
| H01863 |
Atopic myelitis Eosinophilic myelitis |
... eosinophilic inflammation of the spinal cord. It has been suggested that immunotherapy, such as corticosteroids, intravenous immunoglobulin (IVIG), and plasma exchanges (PE), are effective in atopic myelitis ... | Immune system disease | ||
| H01873 |
Obliterative bronchiolitis Bronchiolitis obliterans |
... There is no uniformly accepted treatment protocol for patients with OB. Many patients are tried on corticosteroids or other immunosuppressants based on anecdotal evidence of improvement. However, these medications ... | Respiratory system disease | ||
| H02019 |
Familial male-limited precocious puberty Familial testotoxicosis Gonadotropin-independent familial sexual precocity |
Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing ... | Endocrine and metabolic disease | LHCGR [HSA:3973] [KO:K04248] | |
| H02416 | Cimicosis | Cimicosis is an ectoparasitosis caused by the bite of bed bugs, belonging to the family Cimicidae. Although the Cimicidae comprises more than 90 species, only two species, Cimex lectularius and C. hemipterus ... | Parasitic infectious disease |
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