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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00075 |
Refsum disease Heredopathia atactica polyneuritiformis |
Refsum disease (RD) is an autosomal recessive sensory motor neuropathy characterized by retinitis pigmentosa, peripheral neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations ... | Inherited metabolic disorder, Peroxisomal disease |
PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
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| H00140 | beta-Mannosidosis | ... behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly. | Inherited metabolic disorder, Lysosomal disease | MANBA [HSA:4126] [KO:K01192] | |
| H00264 |
Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy |
... and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction velocities, the disease can be divided into demyelinating CMT ... | Neurodegenerative disease |
(CMT1A/1E) PMP22 [HSA:5376] [KO:K19289] (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770] (CMT1C) LITAF [HSA:9516] [KO:K19363] (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496] (CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572] (CMT1G) PMP2 [HSA:5375] [KO:K24977] (CMT1H) FBLN5 [HSA:10516] [KO:K17340] (CMT1I) POLR3B [HSA:55703] [KO:K03021] (CMT1J) ITPR3 [HSA:3710] [KO:K04960] (CMT2A1) KIF1B [HSA:23095] [KO:K10392] (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030] (CMT2B) RAB7A [HSA:7879] [KO:K07897] (CMT2B1) LMNA [HSA:4000] [KO:K12641] (CMT2B2) PNKP [HSA:11284] [KO:K08073] (CMT2C) TRPV4 [HSA:59341] [KO:K04973] (CMT2CC) NEFH [HSA:4744] [KO:K04574] (CMT2D) GARS1 [HSA:2617] [KO:K01880] (CMT2DD) ATP1A1 [HSA:476] [KO:K01539] (CMT2EE) MPV17 [HSA:4358] [KO:K13348] (CMT2F) HSPB1 [HSA:3315] [KO:K04455] (CMT2FF) CADM3 [HSA:57863] [KO:K06780] (CMT2GG) GBF1 [HSA:8729] [KO:K18443] (CMT2HH) JAG1 [HSA:182] [KO:K06052] (CMT2II) SLC12A6 [HSA:9990] [KO:K14427] (CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077] (CMT2K) JPH1 [HSA:56704] [KO:K19530] (CMT2L) HSPB8 [HSA:26353] [KO:K08879] (CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484] (CMT2N) AARS1 [HSA:16] [KO:K01872] (CMT2O) DYNC1H1 [HSA:1778] [KO:K10413] (CMT2P) LRSAM1 [HSA:90678] [KO:K10641] (CMT2Q) DHTKD1 [HSA:55526] [KO:K15791] (CMT2R) TRIM2 [HSA:23321] [KO:K11997] (CMT2S) IGHMBP2 [HSA:3508] [KO:K19036] (CMT2T) MME [HSA:4311] [KO:K01389] (CMT2U) MARS1 [HSA:4141] [KO:K01874] (CMT2V) NAGLU [HSA:4669] [KO:K01205] (CMT2W) HARS1 [HSA:3035] [KO:K01892] (CMT2X) SPG11 [HSA:80208] [KO:K19026] (CMT2Y) VCP [HSA:7415] [KO:K13525] (CMT2Z) MORC2 [HSA:22880] [KO:K24135] (CMT4B1) MTMR2 [HSA:8898] [KO:K18081] (CMT4B2) SBF2 [HSA:81846] [KO:K18061] (CMT4B3) SBF1 [HSA:6305] [KO:K18061] (CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313] (CMT4D) NDRG1 [HSA:10397] [KO:K18266] (CMT4F) PRX [HSA:57716] [KO:K27395] (CMT4H) FGD4 [HSA:121512] [KO:K05723] (CMT4J) FIG4 [HSA:9896] [KO:K22913] (CMT4K) SURF1 [HSA:6834] [KO:K14998] (CMT6B) SLC25A46 [HSA:91137] [KO:K03454] (CMT6C) PDXK [HSA:8566] [KO:K00868] (CMTX1) GJB1 [HSA:2705] [KO:K07620] (CMTX5) PRPS1 [HSA:5631] [KO:K00948] (CMTX6) PDK3 [HSA:5165] [KO:K00898] (CMTDIC) YARS1 [HSA:8565] [KO:K01866] (CMTDIE) INF2 [HSA:64423] [KO:K23958] (CMTDIF) GNB4 [HSA:59345] [KO:K04538] (CMTRIB) KARS1 [HSA:3735] [KO:K04567] (CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464] (CMTRID) COX6A1 [HSA:1337] [KO:K02266] |
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| H00655 | McLeod syndrome | ... syndrome is an X-linked multisystem disorder including the CNS (chorea, epilepsy), the PNS (axonal polyneuropathy), and the blood cells (acanthocytosis of the erythrocytes) characterized by late onset abnormalities ... | Nervous system disease | (MCLDS) XK [HSA:7504] [KO:K19522] | |
| H00682 |
Woodhouse-Sakati syndrome Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome |
... Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein. | Congenital malformation | C2orf37 [HSA:80067] [KO:K23331] | |
| H00876 | Mismatch repair deficiency | ... non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC also referred to as Lynch syndrome, is an autosomal-dominant-inherited disorder characterized by predisposition to colorectal ... | Cancer |
(MMRCS1/HNPCC2) MLH1 [HSA:4292] [KO:K08734] (MMRCS2/HNPCC1) MSH2 [HSA:4436] [KO:K08735] (MMRCS3/HNPCC5) MSH6 [HSA:2956] [KO:K08737] (MMRCS4/HNPCC4) PMS2 [HSA:5395] [KO:K10858] (HNPCC7) MLH3 [HSA:27030] [KO:K08739] |
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| H01115 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, autosomal-recessive, neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis ... | Neurodegenerative disease | ABHD12 [HSA:26090] [KO:K13704] | |
| H01170 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | ... degeneration of the cerebellum and spinal cord. ARSACS is clinically characterized by spasticity, ataxia, polyneuropathy, retinal changes, and in some cases late cognitive decline. Patients demonstrate an unsteady ... | Nervous system disease | SACS [HSA:26278] [KO:K17592] | |
| H01296 | Hereditary neuropathy with liability to pressure palsies | ... neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative polyneuropathy. HNPP is caused by a peripheral myelin protein (PMP22) gene deletion. PMP22 is duplicated ... | Nervous system disease | PMP22 [HSA:5376] [KO:K19289] | |
| H01432 |
Choreoacanthocytosis Chorea-acanthocytosis |
... CHAC is characterized by involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy. Oral-lingual dystonia is a noticeable feature, often resulting in mouth or tongue lacerations ... | Nervous system disease | VPS13A [HSA:23230] [KO:K19525] | |
| H01436 | Guillain-Barre syndrome | Guillain-Barre syndrome (GBS) is an acute polyneuropathy characterized by progressive motor weakness of limbs with areflexia. This disease is usually triggered by an infection, which provokes immune-mediated ... | Nervous system disease | PMP22 [HSA:5376] [KO:K19289] | |
| H01459 | Diabetic neuropathy | ... nerve-damaging disorders caused by diabetes. Diabetic neuropathy broadly comprises generalized symmetric polyneuropathies (acute sensory, chronic sensorimotor, autonomic) and asymmetric (focal and multifocal) ... | Endocrine and metabolic disease; Nervous system disease | VEGFA (polymorphism) [HSA:7422] [KO:K05448] | |
| H01461 |
Crow-Fukase syndrome POEMS syndrome |
... syndrome, is a rare paraneoplastic syndrome due to an underlying plasma cell neoplasm, characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes as its salient features ... | Neoplasm | ||
| H01527 | Chronic inflammatory demyelinating polyradiculoneuropathy | Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a polyneuropathy that is often disabling, with more than 50% of patients reported as having temporary disability, and about 10% eventually ... | Immune system disease; Nervous system disease | ||
| H01689 |
Fisher syndrome Miller Fisher syndrome |
... is a relatively rare neurological disorder, accounting for approximately 5% of acute inflammatory polyneuropathies. This disease is an immune-mediated condition and specific anti-ganglioside antibodies ... | Immune system disease; Nervous system disease | ||
| H02345 | Autosomal recessive peripheral neuropathy (PNRIID) | ... neuropathy with or without impaired intellectual development (PNRIID) is characterized by sensorymotor polyneuropathy and distal muscle weakness. It could be associated with mild intellectual disability, strabismus ... | Nervous system disease | MCM3AP [HSA:8888] [KO:K24317] | |
| H02566 | Muir-Torre syndrome | ... and one or more visceral malignancies. Because patients have germline mutations in the DNA mismatch repair genes MSH2 and MLH1, Muir-Torre syndrome is considered a phenotypic subtype of Lynch syndrome. | Cancer |
MSH2 [HSA:4436] [KO:K08735] MLH1 [HSA:4292] [KO:K08734] |
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| H02573 | Autosomal recessive spinocerebellar ataxias with axonal neuropathy | Autosomal recessive spinocerebellar ataxias with axonal neuropathy (SCAN) is a heterogeneous group of inherited neurodegenerative disorders characterized by ataxia, cerebellar atrophy, and polyneuropathy. | Neurodegenerative disease |
(SCAN1) TDP1 [HSA:55775] [KO:K10862] (SCAN2) SETX [HSA:23064] [KO:K10706] (SCAN3) COA7 [HSA:65260] [KO:K18180] |
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| H02634 | Deafness, cataract, impaired intellectual development, and polyneuropathy | Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) is a novel autosomal recessive syndrome with varying degrees of neurosensorial dysfunctions. DCIDP is caused by mutations ... | Nervous system disease | PSMC3 [HSA:5702] [KO:K03065] | |
| H02672 | Systemic autoinflammatory disease with vasculitis | ... severe perinatal-onset, systemic inflammation. It has been reported that gain-of-function mutations in LYN associated with this disease. LYN is a member of the Src family of protein tyrosine kinases, and ... | Immune system disease | LYN [HSA:4067] [KO:K05854] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |