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Entry Name Description Category Pathway Gene
H00146 Alpha-N-acetylgalactosaminidase deficiency ... deficiency is divided into three types. Type 1 is Schindler disease, characterized by mental retardation, spasticity ,and myoclonus. Type 2, known as Kanzaki disease, is an adult-onset disorder characterized ... Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00266 Hereditary spastic paraplegia Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity. Nervous system disease (SPG1) L1CAM [HSA:3897] [KO:K06550]
(SPG2) PLP1 [HSA:5354] [KO:K17271]
(SPG3) ATL1 [HSA:51062] [KO:K17339]
(SPG4) SPAST [HSA:6683] [KO:K13254]
(SPG5) CYP7B1 [HSA:9420] [KO:K07430]
(SPG6) NIPA1 [HSA:123606] [KO:K19364]
(SPG7) SPG7 [HSA:6687] [KO:K09552]
(SPG8) WASHC5 [HSA:9897] [KO:K18464]
(SPG9) ALDH18A1 [HSA:5832] [KO:K12657]
(SPG10) KIF5A [HSA:3798] [KO:K10396]
(SPG11) SPG11 [HSA:80208] [KO:K19026]
(SPG12) RTN2 [HSA:6253] [KO:K20722]
(SPG13) HSPD1 [HSA:3329] [KO:K04077]
(SPG15) ZFYVE26 [HSA:23503] [KO:K19027]
(SPG17) BSCL2 [HSA:26580] [KO:K19365]
(SPG18A/18B) ERLIN2 [HSA:11160] [KO:K23341]
(SPG20) SPART [HSA:23111] [KO:K19366]
(SPG21) SPG21 [HSA:51324] [KO:K19367]
(SPG23) DSTYK [HSA:25778] [KO:K16288]
(SPG26) B4GALNT1 [HSA:2583] [KO:K00725]
(SPG28) DDHD1 [HSA:80821] [KO:K13619]
(SPG30) KIF1A [HSA:547] [KO:K10392]
(SPG31) REEP1 [HSA:65055] [KO:K17338]
(SPG33) ZFYVE27 [HSA:118813] [KO:K19368]
(SPG35) FA2H [HSA:79152] [KO:K19703]
(SPG39) PNPLA6 [HSA:10908] [KO:K14676]
(SPG42) SLC33A1 [HSA:9197] [KO:K03372]
(SPG43) C19orf12 [HSA:83636] [KO:K23168]
(SPG44) GJC2 [HSA:57165] [KO:K07619]
(SPG45) NT5C2 [HSA:22978] [KO:K01081]
(SPG46) GBA2 [HSA:57704] [KO:K17108]
(SPG47) AP4B1 [HSA:10717] [KO:K12401]
(SPG48) AP5Z1 [HSA:9907] [KO:K19025]
(SPG49) TECPR2 [HSA:9895] [KO:K23881]
(SPG50) AP4M1 [HSA:9179] [KO:K12402]
(SPG51) AP4E1 [HSA:23431] [KO:K12400]
(SPG52) AP4S1 [HSA:11154] [KO:K12403]
(SPG53) VPS37A [HSA:137492] [KO:K12185]
(SPG54) DDHD2 [HSA:23259] [KO:K16545]
(SPG55) MTRFR [HSA:91574] [KO:K23498]
(SPG56) CYP2U1 [HSA:113612] [KO:K07422]
(SPG57) TFG [HSA:10342] [KO:K09292]
(SPG61) ARL6IP1 [HSA:23204] [KO:K24864]
(SPG62) ERLIN1 [HSA:10613] [KO:K23341]
(SPG63) AMPD2 [HSA:271] [KO:K01490]
(SPG64) ENTPD1 [HSA:953] [KO:K01510]
(SPG70) MARS1 [HSA:4141] [KO:K01874]
(SPG72A/72B) REEP2 [HSA:51308] [KO:K17338]
(SPG73) CPT1C [HSA:126129] [KO:K19524]
(SPG74) IBA57 [HSA:200205] [KO:K22073]
(SPG75) MAG [HSA:4099] [KO:K06771]
(SPG76) CAPN1 [HSA:823] [KO:K01367]
(SPG77) FARS2 [HSA:10667] [KO:K01889]
(SPG78) ATP13A2 [HSA:23400] [KO:K13526]
(SPG79A/79B) UCHL1 [HSA:7345] [KO:K05611]
(SPG80) UBAP1 [HSA:51271] [KO:K24629]
(SPG81) SELENOI [HSA:85465] [KO:K00993]
(SPG82) PCYT2 [HSA:5833] [KO:K00967]
(SPG83) HPDL [HSA:84842] [KO:K24788]
(SPG84) PI4KA [HSA:5297] [KO:K00888]
(SPG85) RNF170 [HSA:81790] [KO:K15707]
(SPG86) ABHD16A [HSA:7920] [KO:K25824]
(SPG87) TMEM63C [HSA:57156] [KO:K21989]
(SPG88) KPNA3 [HSA:3839] [KO:K23583]
(SPG89) AMFR [HSA:267] [KO:K10636]
(SPG90A/90B) SPTSSA [HSA:171546] [KO:K26384]
(SPG91) SPTAN1 [HSA:6709] [KO:K06114]
H00679 Hypomyelinating leukodystrophy
Pelizaeus-Merzbacher disease (PMD) 		... nystagmus, impaired motor development, ataxia, choreoathetoid movements, dysarthria and progressive limb spasticity. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by ... Inherited metabolic disorder (HLD1/PMD) PLP1 [HSA:5354] [KO:K17271]
(HLD2) GJC2 [HSA:57165] [KO:K07619]
(HLD3) AIMP1 [HSA:9255] [KO:K15437]
(HLD4) HSPD1 [HSA:3329] [KO:K04077]
(HLD5) FAM126A [HSA:84668] [KO:K21844]
(HLD6) TUBB4A [HSA:10382] [KO:K07375]
(HLD7) POLR3A [HSA:11128] [KO:K03018]
(HLD8) POLR3B [HSA:55703] [KO:K03021]
(HLD9) RARS1 [HSA:5917] [KO:K01887]
(HLD10) PYCR2 [HSA:29920] [KO:K00286]
(HLD11) POLR1C [HSA:9533] [KO:K03027]
(HLD12) VPS11 [HSA:55823] [KO:K20179]
(HLD13) HIKESHI [HSA:51501] [KO:K23327]
(HLD14) UFM1 [HSA:51569] [KO:K12162]
(HLD15) EPRS1 [HSA:2058] [KO:K14163]
(HLD16) TMEM106B [HSA:54664] [KO:K25048]
(HLD17) AIMP2 [HSA:7965] [KO:K15438]
(HLD18) DEGS1 [HSA:8560] [KO:K04712]
(HLD19) TMEM63A [HSA:9725] [KO:K21989]
(HLD20) CNP [HSA:1267] [KO:K01121]
(HLD21) POLR3K [HSA:51728] [KO:K03019]
(HLD22) CLDN11 [HSA:5010] [KO:K06087]
(HLD23) RNF220 [HSA:55182] [KO:K25174]
(HLD24) ATP11A [HSA:23250] [KO:K26934]
(HLD25) TMEM163 [HSA:81615] [KO:K14694]
(HLD26) SLC35B2 [HSA:347734] [KO:K15276]
(HLD27) POLR1A [HSA:25885] [KO:K02999]
H00856 Distal hereditary motor neuropathies ... (CMT) [DS:H00264] and with juvenile forms of amyotrophic lateral sclerosis [DS:H00058] and hereditary spastic paraplegia [DS:H00266]. The causative genes with autosomal dominant, recessive, and X-linked ... Nervous system disease (HMND2) HSPB8 [HSA:26353] [KO:K08879]
(HMND3) HSPB1 [HSA:3315] [KO:K04455]
(HMND4) HSPB3 [HSA:8988] [KO:K09544]
(HMND5) GARS1 [HSA:2617] [KO:K01880]
(HMND6) FBXO38 [HSA:81545] [KO:K10313]
(HMND7) SLC5A7 [HSA:60482] [KO:K14387]
(HMND8) TRPV4 [HSA:59341] [KO:K04973]
(HMND9) WARS1 [HSA:7453] [KO:K01867]
(HMND10) EMILIN1 [HSA:11117] [KO:K24246]
(HMND11) SPTAN1 [HSA:6709] [KO:K06114]
(HMND12/HMNR6) REEP1 [HSA:65055] [KO:K17338]
(HMND13) BSCL2 [HSA:26580] [KO:K19365]
(HMND14) DCTN1 [HSA:1639] [KO:K04648]
(HMNR1) IGHMBP2 [HSA:3508] [KO:K19036]
(HMNR2) SIGMAR1 [HSA:10280] [KO:K20719]
(HMNR4) PLEKHG5 [HSA:57449] [KO:K19464]
(HMNR5) DNAJB2 [HSA:3300] [KO:K09508]
(HMNR7) VWA1 [HSA:64856] [KO:K24507]
(HMNR8) SORD [HSA:6652] [KO:K00008]
(HMNR9) COQ7 [HSA:10229] [KO:K06134]
(HMNR10) VRK1 [HSA:7443] [KO:K08816]
(HMNX) ATP7A [HSA:538] [KO:K17686]
H00869 Leukoencephalopathy with vanishing white matter
Vanishing white matter disease
Childhood ataxia with diffuse central nervous system hypomyelination (CACH)
Cree leukoencephalopathy (CLE) 		... later-onset forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any ... Nervous system disease (VWM1) EIF2B1 [HSA:1967] [KO:K03239]
(VWM2) EIF2B2 [HSA:8892] [KO:K03754]
(VWM3) EIF2B3 [HSA:8891] [KO:K03241]
(VWM4) EIF2B4 [HSA:8890] [KO:K03680]
(VWM5) EIF2B5 [HSA:8893] [KO:K03240]
H00875 Megaloencephalic leukoencephalopathy with subcortical cysts ... rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. Magnetic resonance imaging (MRI) shows bilateral extensive white-matter ... Nervous system disease (MLC1) MLC1 [HSA:23209] [KO:K20070]
(MLC2A/2B) HEPACAM [HSA:220296] [KO:K23116]
(MLC3) GPRC5B [HSA:51704] [KO:K04619]
(MLC4) AQP4 [HSA:361] [KO:K09866]
H01034 L1 syndrome ... mutations in the L1CAM gene, including X-linked hydrocephalus, MASA syndrome (mental retardation, aphasia, spastic paraplegia, adducted thumbs), X-linked complicated hereditary spastic paraplegia type 1, and ... Congenital malformation L1CAM [HSA:3897] [KO:K06550]
H01097 Spastic quadriplegic cerebral palsy Spastic quadriplegic cerebral palsy (CPSQ) is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural ... Nervous system disease (CPSQ1) GAD1 [HSA:2571] [KO:K01580]
(CPSQ2) KANK1 [HSA:23189] [KO:K22808]
(CPSQ3) ADD3 [HSA:120] [KO:K18622]
H01170 Autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ARSACS ... Nervous system disease SACS [HSA:26278] [KO:K17592]
H01172 Infantile-onset ascending hereditary spastic paralysis Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare autosomal recessive early onset motor neuron disease caused by mutations in the gene ALS2. IAHSP is allelic to juvenile amyotrophic ... Nervous system disease ALS2 [HSA:57679] [KO:K04575]
H01177 Infantile bilateral striatal necrosis ... the brain. The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. The mechanism ... Nervous system disease NUP62 [HSA:23636] [KO:K14306]
MT-ATP6 [HSA:4508] [KO:K02126]
H01268 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
HHH syndrome 		... (HHH) syndrome is a rare autosomal recessive disorder, characterized by mental retardation, progressive spastic paraparesis, seizures, and myoclonus epilepsy. This disease varies widely in its severity and ... Inherited metabolic disorder SLC25A15 [HSA:10166] [KO:K15101]
H01351 Spastic ataxia Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... Neurodegenerative disease (SPAX1) VAMP1 [HSA:6843] [KO:K08510]
(SPAX2) KIF1C [HSA:10749] [KO:K10392]
(SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874]
(SPAX4) MTPAP [HSA:55149] [KO:K18060]
(SPAX5) AFG3L2 [HSA:10939] [KO:K08956]
(SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592]
(SPAX8) NKX6-2 [HSA:84504] [KO:K09350]
(SPAX9) CHP1 [HSA:11261] [KO:K17610]
(SPAX10) COQ4 [HSA:51117] [KO:K18586]
H01576 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Spondyloenchondrodysplasia (SPENCD) 		... metaphyseal and vertebral lesions. Patients may exhibit varying degrees of neurological impairment including spasticity, developmental delay, and basal ganglia calcification. In addition, signs of autoimmune disease ... Congenital malformation ACP5 [HSA:54] [KO:K14379]
H01724 HTLV1-associated myelopathy
Tropical spastic paraparesis 		Human T lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic progressive myelopathy characterized by bilateral pyramidal tract involvement with sphincteric ... Immune system disease; Nervous system disease
H01776 Aicardi syndrome ... coloboma, developmental delay, mental retardation, intractable epilepsy, hypotonia and limb hypertonia with spasticity. The etiology of Aicardi syndrome is still unknown. However, as the disorder is only observed ... Congenital malformation
H01881 Complex cortical dysplasia with other brain malformations ... guidance. Patients exhibit mental retardation, strabismus combined with nystagmus, axial hypotonia, and spasticity. The severity of mental retardation ranged from mild to severe. Complex cortical malformations ... Congenital malformation (CDCBM1) TUBB3 [HSA:10381] [KO:K07375]
(CDCBM2) KIF5C [HSA:3800] [KO:K10396]
(CDCBM3) KIF2A [HSA:3796] [KO:K10393]
(CDCBM4) TUBG1 [HSA:7283] [KO:K10389]
(CDCBM5) TUBB2A [HSA:7280] [KO:K07375]
(CDCBM6) TUBB [HSA:203068] [KO:K07375]
(CDCBM7) TUBB2B [HSA:347733] [KO:K07375]
(CDCBM9) CTNNA2 [HSA:1496] [KO:K05691]
(CDCBM10) APC2 [HSA:10297] [KO:K02085]
(CDCBM11) KIF26A [HSA:26153] [KO:K10404]
(CDCBM12) CAMSAP1 [HSA:157922] [KO:K17493]
(CDCBM13) DYNC1H1 [HSA:1778] [KO:K10413]
H01920 Partington syndrome ... retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow dystonic movements, and mild spasticity of the hands. The symptoms are extrapyramidal and without cerebellar involvement. ARX gene ... Nervous system disease ARX [HSA:170302] [KO:K09452]
H02114 Spastic paraplegia, optic atrophy, and neuropathy Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder clinically defined by congenital optic atrophy, progressive spastic paraplegia with onset ... Nervous system disease KLC2 [HSA:64837] [KO:K10407]
H02137 Laurence-Moon syndrome ... (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, and spastic paraplegia. Polydactyly and renal disease are absent. So it is distinct from Bardet-Biedl syndrome Nervous system disease PNPLA6 [HSA:10908] [KO:K14676]
H02178 MASA syndrome
X-linked hereditary spastic paraplegia 		... cell adhesion molecule L1 (L1CAM) have been reported from families of MASA syndrome, X-linked recessive spastic paraplegia, and X-linked aqueductal stenosis or hydrocephalus (HSAS) [DS:H02458] and these syndromes ... Nervous system disease L1CAM [HSA:3897] [KO:K06550]
H02200 Leukoencephalopathy, progressive, with ovarian failure
Ovarioleukodystrophy 		... synthetase. Patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. Female patients had ovarian failure. Nervous system disease AARS2 [HSA:57505] [KO:K01872]
H02261 PEBAT
Early-onset progressive encephalopathy with brain atrophy and thin corpus callosum 		... Clinical features include developmental delay and profound intellectual disability, seizures, progressive spasticity, and early-onset cortical atrophy. Mutations in TBCD cause PEBAT. TBCD encodes one of the ... Nervous system disease TBCD [HSA:6904] [KO:K21767]
H02282 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is an autosomal recessive neurodevelopmental disorder of childhood. Mutations in SLC1A4, encoding the brain serine transporter ... Congenital malformation (SPATCCM) SLC1A4 [HSA:6509] [KO:K05615]
H02293 Spastic paraplegia-psychomotor retardation-seizures syndrome Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase ... Nervous system disease (SPPRS) HACE1 [HSA:57531] [KO:K12166]
H02433 Hypomyelination with brainstem and spinal cord involvement and leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) is characterized by focal cerebral white matter abnormalities and spinal cord signal abnormalities. HBSL is the result ... Inherited metabolic disorder DARS1 [HSA:1615] [KO:K22503]
H02472 Early-onset progressive encephalopathy Early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS) is caused by mutations in TRAPPC12. Changes in Golgi morphology, membrane trafficking dysfunction, and mitotic delay were ... Nervous system disease (PEBAS) TRAPPC12 [HSA:51112] [KO:K20309]
(PEERB) TRAPPC2L [HSA:51693] [KO:K20301]
H02487 Diencephalic-mesencephalic junction dysplasia syndrome ... sections on MRI. Patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. A few genes that cause DMJDS have been identified. Congenital malformation (DMJDS1) PCDH12 [HSA:51294] [KO:K16499]
(DMJDS2) GSX2 [HSA:170825] [KO:K09310]
H02580 Hereditary sensory neuropathy with spastic paraplegia Hereditary sensory neuropathy with spastic paraplegia is a very rare disease with both autosomal dominant and recessive modes of inheritance. The autosomal recessive form is characterised by progressive ... Nervous system disease CCT5 [HSA:22948] [KO:K09497]
H02598 Progressive leukoencephalopathy ... disorders of cerebral white matter, characterized by neurologic deterioration consisting of ataxia, spasticity, and cognitive decline. It includes Leukoencephalopathy with vanishing white matter [DS:H00869] ... Nervous system disease
H02675 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is a rare neurological disorder caused by mutations in ELOVL1. ELOVL1 catalyzes fatty acid elongation to produce very ... Congenital malformation ELOVL1 [HSA:64834] [KO:K10247]
H02706 Early-onset dystonia and/or spastic paraplegia Early-onset dystonia and/or spastic paraplegia (DYTSPG) is an autosomal dominant neurological disease caused by mutations in ATP5MC3. ATP5MC3 encodes the c subunit of mitochondrial complex V. Nervous system disease ATP5MC3 [HSA:518] [KO:K02128]
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