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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01686 |
Idiopathic portal hypertension Non-cirrhotic portal fibrosis Banti syndrome |
... splenomegaly. It is mainly managed by supportive treatment such as endoscopic, radiological and/or surgical management for esophageal varices and/or splenomegaly. The definite etiology of IPH is still uncertain, but ... | Digestive system disease | ||
| H01696 | Subacute sclerosing panencephalitis | ... disease, decerebrate and decorticate rigidity appear. Ultimately the patient becomes vegetative. Management of the disease includes seizure control and avoidance of secondary complications associated with ... | Neurodegenerative disease; Viral infectious disease | ||
| H01697 | Antiphospholipid syndrome | ... preeclampsia, and premature birth, have been attributed to placental thrombosis and infarcts, and management of these patients is based on attenuating the procoagulant state. Treatment with low-dose aspirin ... | Hematologic disease | ||
| H01711 | Spinal stenosis | ... sitting or lumbar flexion. The treatment of lumbar spinal stenosis generally begins with conservative management such as physical therapy, home exercise programs, and oral analgesics. Once these therapies fail ... | Musculoskeletal disease | ||
| H01715 |
Obesity hypoventilation syndrome Pickwickian Syndrome |
... While continuous positive airway pressure (CPAP) treatments may temporize cardiopulmonary disease progression, simultaneous pursuit of weight reduction is central to long-term management of this condition. | Respiratory system disease | ||
| H01716 | Idiopathic interstitial pneumonias | ... difficult to manage. It has been reported that pulmonary rehabilitation plays a central role in symptom management and has beneficial effects. According to the current American thoracic society/European respiratory ... | Respiratory system disease | ||
| H01739 | Polycystic ovary syndrome | ... genetic and environmental factors determine the heterogeneous, clinical, and biochemical phenotype. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and ... | Endocrine and metabolic disease | ||
| H01741 |
Autoinflammation lipodystrophy and dermatosis syndrome Proteasome associated autoinflammatory syndromes (PRAAS) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) Japanese autoinflammatory syndrome with lipodystrophy (JASL) |
... event is the leading cause of death in these patients for whom life expectancy is notably reduced. Management of these patients is by palliative care. The need for steroids is very high even in combination ... | Immune system disease | PSMB8 [HSA:5696] [KO:K02740] | |
| 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 | ||
| H01809 | Sturge-Weber syndrome | ... syndrome the hallmark of which is a facial port-wine stain (PWS) involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata, and angioma of the eye (leading to glaucoma). The ... | Congenital malformation | GNAQ [HSA:2776] [KO:K04634] | |
| H01847 |
Thrombocytopenia-absent radius syndrome TAR syndrome |
... inheritance of one of two noncoding single-nucleotide variants and a null allele in RBM8A. Clinical management is based on presentation, with platelet transfusions as required for thrombocytopenia and orthopedic ... | Congenital malformation | RBM8A [HSA:9939] [KO:K12876] | |
| H01871 | Isolated hypoganglionosis | Isolated hypoganglionosis (IHG) is an innervation disorder that provides diagnostic and management challenges secondary to ill-defined diagnostic criteria. The symptoms of IHG resemble classical Hirschsprung ... | Digestive system disease | ||
| H02034 | Central hypothyroidism and testicular enlargement | Central hypothyroidism and testicular enlargement is a novel X-linked disorder in which loss-of-function mutations in IGSF1 are observed. It causes central hypothyroidism, testicular enlargement, and variable ... | Endocrine and metabolic disease | IGSF1 [HSA:3547] [KO:K26168] | |
| H02377 | Leukodystrophy and acquired microcephaly with or without dystonia | ... acquired microcephaly with or without dystonia (LDAMD) is a syndrome caused by a mutation in PLEKHG2, that encodes RhoGEF protein. PLEKHG2 has an effect on the rearrangement of the actin cytoskeleton. | Nervous system disease | PLEKHG2 [HSA:64857] [KO:K23859] | |
| H02461 | Neurodevelopmental disorder with microcephaly | Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... | Congenital malformation |
(NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304] (NEDMCR) GEMIN4 [HSA:50628] [KO:K13132] (NDMSBA) PLAA [HSA:9373] [KO:K14018] (NEDMIBA) DYNC1I2 [HSA:1781] [KO:K10415] (NEDMABA) SMPD4 [HSA:55627] [KO:K12353] (NEDAHM) SVBP [HSA:374969] [KO:K23357] (NEDMCMS) TMX2 [HSA:51075] [KO:K25112] (NEDMEHM) MTHFS [HSA:10588] [KO:K01934] (NMIHBA) PRUNE1 [HSA:58497] [KO:K01514] (NEDHYMS) ADARB1 [HSA:104] [KO:K13194] (NEDSEBA) EXOC7 [HSA:23265] [KO:K07195] (NEDMISB) EXOC8 [HSA:149371] [KO:K19986] (NEDSOSB) SEC31A [HSA:22872] [KO:K14005] (NEDMSC) VPS50 [HSA:55610] [KO:K23288] (NEDMHS) CPSF3 [HSA:51692] [KO:K14403] (NEDMIMS) CHKA [HSA:1119] [KO:K14156] (NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307] (NEDMVIC) DOHH [HSA:83475] [KO:K06072] (NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096] (NEDMIM) TTI1 [HSA:9675] [KO:K20403] (NEDGS) PCDHGC4 [HSA:56098] [KO:K16497] |
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| H02470 | Neurodevelopmental disorder with structural brain abnormalities | Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... | Congenital malformation |
(NDAGSCW) RAB11B [HSA:9230] [KO:K07905] (NEDBAVC) DHX37 [HSA:57647] [KO:K14780] (NEDCHS) INTS8 [HSA:55656] [KO:K13145] (NEDCAS) BRAT1 [HSA:221927] [KO:K23112] (NEDEHCC) LNPK [HSA:80856] [KO:K23292] (NEDBAS) DLL1 [HSA:28514] [KO:K06051] (NEDSBAS) WDR45B [HSA:56270] [KO:K22991] (NEDSWMA) HPDL [HSA:84842] [KO:K24788] (NEDVIBA) HK1 [HSA:3098] [KO:K00844] (NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436] (NECFM) NACC1 [HSA:112939] [KO:K10486] (NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791] (NEDBASS) PTPN23 [HSA:25930] [KO:K18040] (NEDABA) ODC1 [HSA:4953] [KO:K01581] (NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303] (NEDASB) NOVA2 [HSA:4858] [KO:K14944] (NEDCAM) GEMIN5 [HSA:25929] [KO:K13133] (NEDSCAC) MED27 [HSA:9442] [KO:K15170] (NEDCASB) SHMT2 [HSA:6472] [KO:K00600] (NEDHSB) SPATA5 [HSA:166378] [KO:K14575] (NEDMLHB) TAF8 [HSA:129685] [KO:K14649] (NEDSSBA) NSRP1 [HSA:84081] [KO:K13206] (NEDMLOB) INTS11 [HSA:54973] [KO:K13148] (NEDMSB) PI4K2A [HSA:55361] [KO:K13711] |
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| H02647 | Macrodactyly | Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component ... | Congenital malformation | PIK3CA [HSA:5290] [KO:K00922] | |
| H02737 | Familial multinodular goiter | Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland. As opposed to toxic MNG, the non-toxic subtype does not result from an inflammatory or neoplastic ... | Endocrine and metabolic disease | (MNG1) DICER1 [HSA:23405] [KO:K11592] |
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