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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00045 | Pancreatic neuroendocrine tumor | ... Associated Protein/Mental Retardation Syndrome X-Linked Genes) and the mTOR pathway (Mammalian Target of Rapamycin). A germline mutation in the MEN1 tumor suppressor gene causes MEN1, the above-mentioned autosomal ... | Cancer |
MEN1 [HSA:4221] [KO:K14970] DAXX [HSA:1616] [KO:K02308] ATRX [HSA:546] [KO:K10779] |
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| H00048 |
Hepatocellular carcinoma Liver cancer |
... Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway. Recent studies using whole-exome sequencing have revealed recurrent mutations ... | Cancer | hsa05225 Hepatocellular carcinoma |
TGFA (overexpression) [HSA:7039] [KO:K08774] IGF2 (overexpression) [HSA:3481] [KO:K13769] IGF1R (overexpression) [HSA:3480] [KO:K05087] TERT (overexpression) [HSA:7015] [KO:K11126] FZD7 (overexpression) [HSA:8324] [KO:K02432] HGF (overexpression) [HSA:3082] [KO:K05460] MET (mutation, overexpression) [HSA:4233] [KO:K05099] MYC (amplification) [HSA:4609] [KO:K04377] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A (deletion) [HSA:1029] [KO:K06621] TGFBR2 (reduced expression) [HSA:7048] [KO:K04388] TP53 [HSA:7157] [KO:K04451] PTEN [HSA:5728] [KO:K01110] CTNNB1 [HSA:1499] [KO:K02105] AXIN1 [HSA:8312] [KO:K02157] KEAP1 [HSA:9817] [KO:K10456] NFE2L2 [HSA:4780] [KO:K05638] PIK3CA [HSA:5290] [KO:K00922] ARID1A [HSA:8289] [KO:K11653] ARID2 [HSA:196528] [KO:K11765] CASP8 [HSA:841] [KO:K04398] IGF2R [HSA:3482] [KO:K06564] |
| H00057 | Parkinson disease | ... (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental factors and mutations ... | Neurodegenerative disease | hsa05012 Parkinson disease |
(PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528] (PARK2) PRKN [HSA:5071] [KO:K04556] (PARK5) UCHL1 [HSA:7345] [KO:K05611] (PARK6) PINK1 [HSA:65018] [KO:K05688] (PARK7) PARK7 [HSA:11315] [KO:K05687] (PARK8) LRRK2 [HSA:120892] [KO:K08844] (PARK9) ATP13A2 [HSA:23400] [KO:K13526] (PARK11) GIGYF2 [HSA:26058] [KO:K18730] (PARK13) HTRA2 [HSA:27429] [KO:K08669] (PARK14) PLA2G6 [HSA:8398] [KO:K16343] (PARK15) FBXO7 [HSA:25793] [KO:K10293] (PARK17) VPS35 [HSA:55737] [KO:K18468] (PARK18) EIF4G1 [HSA:1981] [KO:K03260] (PARK19) DNAJC6 [HSA:9829] [KO:K09526] (PARK22) CHCHD2 [HSA:51142] [KO:K22758] (PARK23) VPS13C [HSA:54832] [KO:K19525] (PARK24) PSAP [HSA:5660] [KO:K12382] (PARK25) PTPA [HSA:5524] [KO:K17605] (IDLDP) NR4A2 [HSA:4929] [KO:K08558] MAPT [HSA:4137] [KO:K04380] |
| H00548 |
Brunner syndrome MAOA deficiency |
... X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and epinephrine. | Inherited metabolic disorder | MAOA [HSA:4128] [KO:K00274] | |
| H00744 |
Potassium-aggravated myotonia Sodium channel myotonia |
Potassium-aggravated myotonia (PAM), which is also known as sodium channel myotonia (SCM), is a group of pure myotonic disorders caused by mutations in the SCN4A gene. PAM includes three diseases with ... | Nervous system disease; Musculoskeletal disease | SCN4A [HSA:6329] [KO:K04837] | |
| H00915 |
Tuberous sclerosis complex Bourneville-Pringle disease |
... These gene products form a physical and functional complex to limit activation of the mammalian target rapamycin (mTOR) complex 1. When these genes are deficient, mTOR complex 1 is constitutively up-regulated ... | Congenital malformation |
(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
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| H01005 |
Dopamine beta-hydroxylase deficiency Norepinephrine deficiency Noradrenaline deficiency |
Dopamine beta-hydroxylase (DBH) deficiency is a very rare form of primary autonomic failure characterized by cardiovascular disorders and severe orthostatic hypotension. DBH deficiency is caused by a series ... | Nervous system disease | DBH [HSA:1621] [KO:K00503] | |
| H01159 | Anterior segment dysgenesis | Anterior segment dysgenesis (ASGD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest ... | Congenital malformation |
(ASGD1) PITX3 [HSA:5309] [KO:K09357] (ASGD2) FOXE3 [HSA:2301] [KO:K09398] (ASGD3) FOXC1 [HSA:2296] [KO:K09396] (ASGD4) PITX2 [HSA:5308] [KO:K04686] (ASGD5) PAX6 [HSA:5080] [KO:K08031] (ASGD6) CYP1B1 [HSA:1545] [KO:K07410] (ASGD7) PXDN [HSA:7837] [KO:K19511] (ASGD8) CPAMD8 [HSA:27151] |
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| H01161 | Aromatic L-amino acid decarboxylase deficiency | ... severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined deficiency of serotonin and the two catecholamines, dopamine and norepinephrine. | Nervous system disease | DDC [HSA:1644] [KO:K01593] | |
| H01449 |
Excoriation disorder Skin picking disorder |
... although some studies suggested that fluoxetine is effective. Tricyclic antidepressants, neuroleptics, and the dopamine-blocking opioid antagonist have also been found to be effective for skin-picking. | Mental and behavioural disorder | ||
| H01450 | Obsessive-compulsive disorder | ... neurotransmission is one of the most consistent biological findings in OCD. Studies have also reported dopaminergic abnormalities in the basal ganglia and nucleus accumbens, as well as altered glutamate transmission ... | Mental and behavioural disorder |
HTR2A [HSA:3356] [KO:K04157] SLC6A4 [HSA:6532] [KO:K05037] |
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| H01510 |
Malignant paraganglioma Pheochromocytoma |
... hypoxic pathway, while the second cluster contains all RET- , NF1-, MAX and TMEM127- mutated tumors and is associated to the activation of MAPK and mTOR (mammalian target of rapamycin) signaling pathways. | 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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| H01528 | Neuroleptic malignant syndrome | ... olanzapine, quetiapine), other D2-receptor antagonists (metoclopramide), and following withdrawal of anti dopaminergic agents. Although the precise pathophysiologic mechanism underlying NMS remains unknown, a ... | Nervous system disease | ||
| H01588 | Cluster headache | ... the use of supplemental oxygen, sumatriptan, and zolmitriptan for acute treatment of episodic CH. Verapamil is used to treat chronic CH. More invasive treatments, including nerve stimulation and surgery ... | Nervous system disease | ||
| H01597 |
Restless legs syndrome Willis Ekbom disease |
... have been identified, but no causative gene mutation has been found. Standard medications for RLS are dopamine agonists and CACN alpha-2 delta blocker. A high prevalence of iron deficiency has been found among ... | Nervous system disease | ||
| H01607 | Galactorrhea | ... based on the serum prolactin level, the severity of galactorrhea, and the patient's fertility desires. Dopamine agonists are the treatment of choice in most patients with hyperprolactinemic disorders. Medications ... | Reproductive system disease | ||
| H01636 |
Fibromyalgia Fibromyalgia syndrome |
... fibromyalgia is uncertain. Genetic studies suggest an association with polymorphisms in serotonergic, dopaminergic, and catecholaminergic pathways involved in pain transmission and modulation. The disease ... | Musculoskeletal disease | ||
| H01653 |
Bipolar disorder Manic depressive illness |
... association studies, contribute to the polygenic risk of bipolar disorder. It is suggested that the dopaminergic system may play a central role in bipolar disorder, although no singular dysfunction of neurotransmitter ... | Mental and behavioural disorder | (MAFD7) XBP1 [HSA:7494] [KO:K09027] | |
| H01670 |
Social anxiety disorder Social phobia |
... social anxiety disorder. In addition, there is evidence from various studies, that the serotonin, and dopamine neurotransmitter systems mediate the symptoms of SAD. A range of effective cognitive behavioural ... | Mental and behavioural disorder | ||
| H01692 | Subependymal giant cell astrocytoma | ... the TSC1 or TSC2 genes. These mutations lead to constitutive upregulation of the mammalian target of rapamycin (mTOR) pathway, which affects many cellular processes involved in tumor growth. Clinical studies ... | Nervous system disease |
(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
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| H01830 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | ... limbs. A homozygous mutation in MAGMAS (Mitochondria-associated granulocyte macrophage colony stimulating factor-signaling molecule), also referred to as PAM16, is identified from patients of this disease. | Congenital malformation | PAM16 [HSA:51025] [KO:K17805] | |
| H01895 | Attention deficit hyperactivity disorder (ADHD) | ... implicate variants of genes important for the synthesis, uptake, transport and receptor binding of dopamine in the etiology of ADHD. And interaction between the dopamine and serotonin systems has been implicated ... | Mental and behavioural disorder |
(ADHD) DRD5 [HSA:1816] [KO:K05840] (ADHD) DRD4 [HSA:1815] [KO:K04147] (ADHD7) TPH2 [HSA:121278] [KO:K00502] (ADHD8) CDH2 [HSA:1000] [KO:K06736] |
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| H02399 | Primary amoebic meningoencephalitis (PAM) | Primary amoebic meningoencephalitis (PAM) is a perilous and devastating waterborne disease caused by Naegleria fowleri. N. fowleri is a free-living, thermophilic amoeba distributed worldwide in soil and ... | Parasitic infectious disease | ||
| H02557 | Dopa-responsive dystonia | ... treatment. DRD usually results from genetic defects in enzymes that are involved in the biosynthesis of dopamine. The most common condition is autosomal dominant GTP cyclohydrolase 1 deficiency (Segawa syndrome) | Nervous system disease |
(DYT5a) GCH1 [HSA:2643] [KO:K01495] (DYT5b) TH [HSA:7054] [KO:K00501] |
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| H02597 | Sepiapterin reductase deficiency | ... monoamine neurotransmitter depletion. Patients exhibit progressive psychomotor retardation, dystonia, dopamine and serotonin deficiencies. Mutations in the SPR gene have been reported. Sepiapterin reductase ... | Inherited metabolic disorder | SPR [HSA:6697] [KO:K00072] | |
| H02606 | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an autosomal recessive neuronal migration disorder. It has been reported that PAMDDFS is caused ... | Congenital malformation | TUBGCP2 [HSA:10844] [KO:K16569] |
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