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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00001 |
B-cell acute lymphoblastic leukemia B-cell acute lymphocytic leukemia |
... and/or prognostic features so that they can be considered as distinct entities. The most common rearrangements observed in B-ALL are the t(12;21) (p13;q22) rearrangement resulting in expression of the ETV6-RUNX1 ... | Cancer |
BCR-ABL (translocation) [HSA:25] [KO:K06619] MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184] E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355] TEL-AML1 (translocation) [HSA:861] [KO:K08367] c-MYC (rearrangement) [HSA:4609] [KO:K04377] CRLF2 (rearrangement) [HSA:64109] [KO:K05078] PAX5 (rearrangement) [HSA:5079] [KO:K09383] |
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| H00004 | Chronic myeloid leukemia | ... translocation that forms the Philadelphia (Ph) chromosome. The Ph chromosome is the result of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene ... | Cancer | hsa05220 Chronic myeloid leukemia |
BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619] MECOM (overexpression) [HSA:2122] [KO:K04462] RUNX1 (translocation) [HSA:861] [KO:K08367] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] |
| H00008 | Burkitt lymphoma | ... type of BL is associated with HIV-infection in adults. All of these subtypes possess chromosomal rearrangements of the c-myc oncogene, the genetic hallmark of BL that contributes to lymphomagenesis through ... | Cancer |
MYC-IgH (translocation) [HSA:4609] [KO:K04377] p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621] |
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| H00032 | Thyroid cancer | ... (PTC and FTC, respectively) to the extremely aggressive undifferentiated carcinoma (UC). Somatic rearrangements of RET and TRK are almost exclusively found in PTC and may be found in early stages. The most ... | Cancer | hsa05216 Thyroid cancer |
RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288] RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289] TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290] TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290] TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290] PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530] KRAS [HSA:3845] [KO:K07827] HRAS [HSA:3265] [KO:K02833] NRAS [HSA:4893] [KO:K07828] BRAF [HSA:673] [KO:K04365] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] CDH1 [HSA:999] [KO:K05689] MINPP1 [HSA:9562] [KO:K03103] (NMTC1) NKX2-1 [HSA:7080] [KO:K09342] (NMTC2) SRGAP1 [HSA:57522] [KO:K07526] (NMTC4) FOXE1 [HSA:2304] [KO:K09398] (NMTC5) HABP2 [HSA:3026] [KO:K08648] |
| H00033 | Adrenal carcinoma | ... tumor-suppressor genes involved in adrenal carcinomas include mutations in the p53 tumor-suppressor gene and rearrangements of the chromosomal locus 11p15.5 associated with IGF II hyperexpression. Deletions of the ACTH ... | Cancer |
ACTH-R (deletion) [HSA:4158] [KO:K04200] GNAI2 (mutation) [HSA:2771] [KO:K04630] N-ras (mutation) [HSA:4893] [KO:K07828] IGF II (overexpression) [HSA:3481] [KO:K13769] p53 (LOH, mutation) [HSA:7157] [KO:K04451] p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993] MEN1 (LOH, mutation) [HSA:4221] [KO:K14970] |
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| H00043 | Neuroblastoma | ... by near-triploid karyotypes with whole chromosome gains. These tumors rarely have structural rearrangements, and they usually express the TrkA neurotrophin receptor. Patients with these tumors are more ... | Cancer |
MYCN (normal/amplified) [HSA:4613] [KO:K09109] NTRK1 (high/low expression) [HSA:4914] [KO:K03176] NTRK2 (low/high expression) [HSA:4915] [KO:K04360] NTRK3 (high/low expression) [HSA:4916] [KO:K05101] (NBLST1) KIF1B [HSA:23095] [KO:K10392] (NBLST2) PHOX2B [HSA:8929] [KO:K09330] (NBLST3) ALK [HSA:238] [KO:K05119] |
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| H00081 | Hashimoto thyroiditis | ... characterized by an inflammatory infiltrate of immunocytes that replace the parenchyma and induce thyroid enlargement, which eventually leads to gland fibrosis. Progressive thyrocyte depletion results in impaired ... | Immune system disease | CTLA4 [HSA:1493] [KO:K06538] | |
| H00082 | Graves disease | ... autoantibodies. This overstimulation leads to follicular hypertrophy and hyperplasia, causing thyroid enlargement, as well as increases in thyroid hormone production and the fraction of triiodothyronine (T3) ... | Immune system disease | ||
| H00275 | Cystinosis | ... and other systemic complications. Since the introduction of cysteamine into the pharmacological management of cystinosis, well-treated adolescent and young adult patients have experienced normal growth ... | Inherited metabolic disorder, Lysosomal disease | CTNS [HSA:1497] [KO:K12386] | |
| H00486 | Sclerosteosis | ... sclerosing bone dysplasias inherited in an autosomal recessive manner. The main clinical features are enlargement of the jaw and facial bones, which can lead to secondary findings such as facial distortion, increased ... | Congenital malformation |
(SOST1) SOST [HSA:50964] [KO:K16834] (SOST2) LRP4 [HSA:4038] [KO:K20051] |
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| H00632 |
Heterotaxy Situs ambiguus |
Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations ... | Congenital malformation |
(HTX1) ZIC3 [HSA:7547] [KO:K18487] (HTX2) CFC1 [HSA:55997] [KO:K25454] (HTX4) ACVR2B [HSA:93] [KO:K13596] (HTX5) NODAL [HSA:4838] [KO:K04666] (HTX6) CFAP53 [HSA:220136] [KO:K24225] (HTX7) MMP21 [HSA:118856] [KO:K08000] (HTX8) PKD1L1 [HSA:168507] [KO:K04987] (HTX9) MNS1 [HSA:55329] [KO:K25441] (HTX10) CFAP52 [HSA:146845] [KO:K24728] (HTX11) CFAP45 [HSA:25790] [KO:K25551] (HTX12) CIROP [HSA:100128908] (RAI) GDF1 [HSA:2657] [KO:K05495] |
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| H00941 |
Factor XII deficiency Hageman factor deficiency |
Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role ... | Hematologic disease | F12 [HSA:2161] [KO:K01328] | |
| H00958 |
Congenital stromal corneal dystrophy Congenital hereditary stromal dystrophy Witschel dystrophy |
... progressive to decrease the visual acuity. In CSCD, the morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter ... | Nervous system disease | DCN [HSA:1634] [KO:K04660] | |
| H01028 |
Argininosuccinic aciduria Argininosuccinate lyase deficiency |
... in argininosuccinate lyase. ARGINSA is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing ... | Inherited metabolic disorder | ASL [HSA:435] [KO:K01755] | |
| H01039 | Ovarian hyperstimulation syndrome | ... induction (OI) occurring during the luteal phase or early pregnancy. OHSS is characterised by a cystic enlargement of the ovaries and an acute fluid shift from the intravascular to the third space, which may result ... | Reproductive system disease | FSHR [HSA:2492] [KO:K04247] | |
| H01096 | Pyruvate kinase deficiency | ... cortex, and small intestine) and R-PK (restricted to erythrocytes). The symptoms include jaundice, enlargement of the spleen, and hemolysis, leading to anemia. One hundred fifty-eight mutations associated ... | Inherited metabolic disorder | PKLR [HSA:5313] [KO:K12406] | |
| H01162 |
Scott syndrome Bleeding disorder platelet-type 7 (BDPLT7) |
... disorder caused by a defect in blood coagulation. When platelets are activated, a calcium-induced rearrangement of the platelet membrane phospholipids takes place, exposing negatively charged phosphatidylserine ... | Hematologic disease | ANO6 [HSA:196527] [KO:K19500] | |
| H01203 |
Primary congenital glaucoma Glaucoma 3 |
... outflow pathway. PCG clinical features include elevated intraocular pressure (IOP), corneal edema, enlargement of the globe (buphthalmos), corneal enlargement, rupture of Descemet's membrane, and optic nerve ... | Congenital malformation |
(GLC3A) CYP1B1 [HSA:1545] [KO:K07410] (GLC3D) LTBP2 [HSA:4053] [KO:K08023] (GLC3E) TEK [HSA:7010] [KO:K05121] |
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| H01219 | Restrictive cardiomyopathy | ... filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial enlargement and elevated systemic and pulmonary venous pressure. To date, mutations have been identified in ... | Cardiovascular disease |
(RCM1) TNNI3 [HSA:7137] [KO:K12044] (RCM3) TNNT2 [HSA:7139] [KO:K12045] (RCM4) MYPN [HSA:84665] [KO:K22028] (RCM5) FLNC [HSA:2318] [KO:K27393] (RCM6) KIF20A [HSA:10112] [KO:K10402] DES [HSA:1674] [KO:K07610] ACTC1 [HSA:70] [KO:K12314] |
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| H01246 |
Isolated congenital nail clubbing Isolated congenital digital clubbing |
Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the ... | Congenital malformation | HPGD [HSA:3248] [KO:K00069] | |
| H01250 | Hereditary gingival fibromatosis | ... dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. Four gene loci have been mapped for autosomal ... | Digestive system disease |
(GINGF1) SOS1 [HSA:6654] [KO:K03099] (GINGF5) REST [HSA:5978] [KO:K09222] |
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| H01393 |
Van Maldergem syndrome Cerebro-facio-articular syndrome |
Van Maldergem syndrome (VMS) is an autosomal-recessive disorder characterized by intellectual disability, hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity ... | Congenital malformation |
(VMLDS1) DCHS1 [HSA:8642] [KO:K16507] (VMLDS2) FAT4 [HSA:79633] [KO:K16669] |
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| H01495 | Meniere disease | ... and aural fullness. Prevailing theories on its pathogenesis point to endolymphatic hydrops as one derangement responsible for producing dysfunction within the cochlea and peripheral vestibular apparatus. ... | Nervous system disease | ||
| H01522 | Zollinger-Ellison syndrome | ... regional lymph nodes and the liver. The treatment of the ZES includes surgical removal and medical management of gastric acid hypersecretion for the prevention of malignant transformation and the genesis ... | Endocrine and metabolic disease | MEN1 [HSA:4221] [KO:K14970] | |
| H01566 | Beriberi | ... termed Shoshin beriberi may occur, and is characterized by cardiovascular collapse. Appropriate management of this form is mandatory since thiamine supplementation leads to rapid recovery while untreated ... | Endocrine and metabolic disease | ||
| H01568 |
3C syndrome Ritscher-Schinzel syndrome Craniocerebellocardiac dysplasia |
... Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia, and enlargement of the cisterna magna. Craniofacial abnormalities seen are cleft palate, ocular coloboma, prominent ... | Congenital malformation |
(RTSC1) WASHC5 [HSA:9897] [KO:K18464] (RTSC2) CCDC22 [HSA:28952] [KO:K23343] (RTSC3) VPS35L [HSA:57020] [KO:K25731] (RTSC4) DPYSL5 [HSA:56896] [KO:K07529] |
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| H01573 | Zimmermann-Laband syndrome | ... dominant inheritance with de novo mutations. The main clinical characteristics of ZLS are gingival enlargement, prominent nose and thick ears with soft cartilages, nail aplasia or hypoplasia, hypertrichosis ... | Congenital malformation |
(ZLS1) KCNH1 [HSA:3756] [KO:K04904] (ZLS2) ATP6V1B2 [HSA:526] [KO:K02147] (ZLS3) KCNN3 [HSA:3782] [KO:K04944] |
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| H01587 | Disseminated intravascular coagulation | ... (causative factor) supported by repeated laboratory tests for coagulation profile and clotting factors. Treatment of DIC is aimed at combating the underlying disorder followed by supportive management. | Hematologic disease | ||
| H01588 | Cluster headache | Cluster headache (CH) is the commonest of the trigeminal autonomic cephalalgias (TAC) characterized by attacks of severe, strictly unilateral pain, which is orbital, supraorbital, temporal, or in any combination ... | Nervous system disease | ||
| H01601 | Anaplastic large-cell lymphoma | ... NPM-ALK chimeric protein with constitutive tyrosine kinase activity. ALK-negative ALCLs lack ALK rearrangements and their genetic and clinical features are more variable. A subset of ALK-negative ALCLs has ... | Cancer |
NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165] |
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| H01602 | Gastroesophageal reflux disease | ... endoscopy and esophageal pH monitoring. GERD is a chronic disease that typically requires long term management in the form of lifestyle modification, medical therapy and, for a subset of patients, surgical ... | Digestive system disease | ||
| H01618 | Pituitary gigantism | ... syndrome. The clinical manifestations may include increased growth velocity with tall stature, enlargement of the hands and feet, excessive perspiration, coarsening of facial features, and headaches. It ... | Endocrine and metabolic disease | GPR101 (duplication) [HSA:83550] [KO:K08423] | |
| H01638 |
Neuropathic pain Neuralgia |
... cancer-related neuropathic pain, postherpetic neuralgia, HIV-related neuropathy, spinal cord injury, trigeminal neuralgia and complex regional pain syndrome type II, among others. Treatments are generally ... | Nervous system disease | ||
| H01640 |
Uterine leiomyoma Fibroid |
Uterine leiomyoma, also known as fibroid, is the most common benign neoplasm of the female genital tract. It is a discrete, round, firm, often multiple uterine tumor composed of smooth muscle and connective ... | 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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| H01642 | Renal anemia | ... since the late 1980s, the availability of recombinant human erythropoietin has revolutionized the management of renal anemia, and erythropoiesis-stimulating agents (ESAs) are now the mostly widely used drugs | Urinary system disease | ||
| H01644 | Blepharitis | ... diagnosis of blepharitis is almost always based on the history and clinical examination. Long-term management of symptoms may include daily eyelid cleansing routines and the use of therapeutic agents that ... | Nervous system disease | ||
| H01653 |
Bipolar disorder Manic depressive illness |
... present with a depressive episode that differs subtly from unipolar depression. The first step in the management of bipolar disorder is to confirm the diagnosis of mania or hypomania and define the patient's ... | Mental and behavioural disorder | (MAFD7) XBP1 [HSA:7494] [KO:K09027] | |
| H01661 |
Xanthoma Xanthomatosis |
... the mechanism of phagocytosis. They are seen in several lipidoses and are usually indicative of a derangement in lipoprotein metabolism, in particular familial hypercholesterolemia. Prevention of xanthomas ... | Skin disease; Inherited metabolic disorder | ||
| H01676 | Normal pressure hydrocephalus | ... disease characterized by gait impairment, urinary incontinence, and dementia, and by ventricular enlargement in the absence of elevated intracranial pressure. NPH can be secondary to disease processes that ... | Nervous system disease | ||
| H01678 | Dandy-Walker syndrome | ... has been suggested that heterozygous loss of ZIC1 and ZIC4 is the cause of this disease. Various managements of DWS have been reported from open excision of the cysts to CSF diversion. Ventriculoperitoneal ... | Congenital malformation |
ZIC1 [HSA:7545] [KO:K09224] ZIC4 [HSA:84107] [KO:K09225] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |