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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00118 | Congenital disorders of glycosylation type I | Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves ... | Inherited metabolic disorder |
(CDG1A) PMM2 [HSA:5373] [KO:K17497] (CDG1B) MPI [HSA:4351] [KO:K01809] (CDG1C) ALG6 [HSA:29929] [KO:K03848] (CDG1D) ALG3 [HSA:10195] [KO:K03845] (CDG1E) DPM1 [HSA:8813] [KO:K00721] (CDG1F) MPDU1 [HSA:9526] [KO:K09660] (CDG1G) ALG12 [HSA:79087] [KO:K03847] (CDG1H) ALG8 [HSA:79053] [KO:K03849] (CDG1I) ALG2 [HSA:85365] [KO:K03843] (CDG1J) DPAGT1 [HSA:1798] [KO:K01001] (CDG1K) ALG1 [HSA:56052] [KO:K03842] (CDG1L) ALG9 [HSA:79796] [KO:K03846] (CDG1M) DOLK [HSA:22845] [KO:K00902] (CDG1N) RFT1 [HSA:91869] [KO:K06316] (CDG1O) DPM3 [HSA:54344] [KO:K09659] (CDG1P) ALG11 [HSA:440138] [KO:K03844] (CDG1Q) SRD5A3 [HSA:79644] [KO:K12345] (CDG1R) DDOST [HSA:1650] [KO:K12670] (CDG1S) ALG13 [HSA:79868] [KO:K07432] (CDG1T) PGM1 [HSA:5236] [KO:K01835] (CDG1U) DPM2 [HSA:8818] [KO:K09658] (CDG1WAR) STT3A [HSA:3703] [KO:K07151] (CDG1X) STT3B [HSA:201595] [KO:K07151] (CDG1Y) SSR4 [HSA:6748] [KO:K04571] (CDG1AA) NUS1 [HSA:116150] [KO:K19177] (CDG1BB) DHDDS [HSA:79947] [KO:K11778] (CDG1CC) MAGT1 [HSA:84061] [KO:K19478] (CDG1DD) DHRSX [HSA:207063] [KO:K11170] (CDG1EE) MAN2B2 [HSA:23324] [KO:K12312] |
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| H00978 | Thrombocytopenia (THC) | Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are ... | Hematologic disease |
(THC1) WAS [HSA:7454] [KO:K05747] (THC2) ANKRD26 [HSA:22852] [KO:K25138] (THC3) FYB1 [HSA:2533] [KO:K17698] (THC4) CYCS [HSA:54205] [KO:K08738] (THC5) ETV6 [HSA:2120] [KO:K03211] (THC6) SRC [HSA:6714] [KO:K05704] (THC7) IKZF5 [HSA:64376] [KO:K09220] (THC8) ACTB [HSA:60] [KO:K05692] (THC9) THPO [HSA:7066] [KO:K06854] (THC10) PTPRJ [HSA:5795] [KO:K05698] (THC11) RAP1B [HSA:5908] [KO:K07836] (THC12) GNE [HSA:10020] [KO:K12409] (THC13) GALE [HSA:2582] [KO:K01784] (XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182] (THAMY) MPIG6B [HSA:80739] [KO:K25640] (FPDMM) RUNX1 [HSA:861] [KO:K08367] |
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| H01248 | Monocarboxylate transporter 1 deficiency | Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. Patients were found to have missense mutations in monocarboxylate transporter ... | Inherited metabolic disorder | SLC16A1 [HSA:6566] [KO:K08179] | |
| H01472 | Multidrug-resistant tuberculosis | ... generally defined as infection with M. tuberculosis strains that are resistant to isoniazid and rifampin, the first-line antibiotics for treating tuberculosis. Drug-resistant tuberculosis has reached new ... | Bacterial infectious disease | ||
| H01529 |
Avascular necrosis of femoral head Osteonecrosis of the femoral head |
... individuals between 30 and 50 years old. The clinical manifestations of ANFH, including pain on exertion, limping gait, and discrepancy in leg length, cause considerable disability. The etiology of ANFH is unknown ... | Musculoskeletal disease |
(ANFH1) COL2A1 [HSA:1280] [KO:K19719] (ANFH2) TRPV4 [HSA:59341] [KO:K04973] SERPINE1 [HSA:5054] [KO:K03982] VEGFA [HSA:7422] [KO:K05448] NOS3 [HSA:4846] [KO:K13242] ABCB1 [HSA:5243] [KO:K05658] |
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| H01604 | Polymyositis and dermatomyositis | ... immune-based 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 ... | Musculoskeletal disease | ||
| H01708 |
Diffuse idiopathic skeletal hyperostosis Forestier disease Ankylosing hyperostosis Ossification of the anterior longitudinal ligament |
... focus on the pathologic OALL. There's no cure for DISH. Therapy for DISH is based on symptomatic and empiric treatment. In general, physical therapy, analgesics, antiinflammatory drugs, and muscle relaxants ... | Musculoskeletal disease | ||
| H01862 | Hypoparathyroidism | ... phosphate clearance. Hypocalcemic patients can present with a wide range of symptoms, including fatigue, cramping, tetany, seizures and congestive heart failure. Mild chronic hypocalcemia can be asymptomatic. ... | Endocrine and metabolic disease |
(FIH1) PTH [HSA:5741] [KO:K05261] (FIH2) GCM2 [HSA:9247] [KO:K21598] |
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| H01943 |
Glycogen storage disease type V McArdle disease |
... disorder of glycogen metabolism. GSD-V is caused by mutations in the PYGM gene, which encodes muscle glycogen phosphorylase. It is characterized by exercise intolerance, muscle cramping, and myoglobinuria. | Inherited metabolic disorder | PYGM [HSA:5837] [KO:K00688] | |
| H02088 |
Primary intraosseous vascular malformation Primary intraosseous hemangioma |
Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is almost exclusively ... | Cardiovascular disease | ELMO2 [HSA:63916] [KO:K18985] | |
| H02237 | AMP deaminase deficiency | ... myoadenylate deaminase (MAD). MAD deficiency (MADD) was discovered in patients with muscle weakness and cramping after exercise, and the mutations in AMP deaminase gene (AMPD1) have been identified. Although ... | Inherited metabolic disorder |
AMPD1 [HSA:270] [KO:K01490] AMPD3 [HSA:272] [KO:K01490] |
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