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Entry Name Description Category Pathway Gene
H00066 Lewy body dementia (LBD)
Dementia with Lewy bodies (DLB) 		... alpha-synuclein- and ubiquitin-positive Lewy Bodies is seen in the brainstem, the limbic system or cortical and subcortical regions, depending on disease subtype. The genetic risk factors include alpha-synuclein mutations ... Neurodegenerative disease SNCA (mutation, triplication) [HSA:6622] [KO:K04528]
SNCB (mutation) [HSA:6620] [KO:K24201]
LRRK2 (mutation) [HSA:120892] [KO:K08844]
GBA (mutation) [HSA:2629] [KO:K01201]
H00268 Lissencephaly Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. Congenital malformation (LIS1/MDS) PAFAH1B1 [HSA:5048] [KO:K16794]
(LIS2) RELN [HSA:5649] [KO:K06249]
(LIS3) TUBA1A [HSA:7846] [KO:K07374]
(LIS4) NDE1 [HSA:54820] [KO:K16738]
(LIS5) LAMB1 [HSA:3912] [KO:K05636]
(LIS6) KATNB1 [HSA:10300] [KO:K18643]
(LIS7) CDK5 [HSA:1020] [KO:K02090]
(LIS8) TMTC3 [HSA:160418] [KO:K23424]
(LIS9) MACF1 [HSA:23499] [KO:K19827]
(LIS10) CEP85L [HSA:387119] [KO:K16766]
(LISX1) DCX [HSA:1641] [KO:K16579]
(LISX2) ARX [HSA:170302] [KO:K09452]
H00536 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) CADASIL is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the ... Congenital malformation NOTCH3 [HSA:4854] [KO:K20995]
H00875 Megaloencephalic leukoencephalopathy with subcortical cysts Megaloencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline ... 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]
H01280 L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy. Inherited metabolic disorder L2HGDH [HSA:79944] [KO:K00109]
H01757 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
CARASIL 		Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel ... Congenital malformation HTRA1 [HSA:5654] [KO:K08784]
H01776 Aicardi syndrome ... agenesis of corpus callosum, typical brain abnormalities include polymicrogyria, periventricular and subcortical heterotopia, intracranial cysts, cerebellar abnormalities, and enlarged cisterna magna. Neurological ... Congenital malformation
H01841 Acute encephalopathy with biphasic seizures and late reduced diffusion ... and is radiologically characterized by delayed reduced diffusion in the frontal or frontoparietal subcortical white matter, the so-called bright tree appearance, on days 3 to 9. The exact pathogenesis ... Nervous system disease
H02170 Microphthalmia, syndromic Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal ... Congenital malformation (MCOPS1) NAA10 [HSA:8260] [KO:K20791]
(MCOPS2) BCOR [HSA:54880] [KO:K23215]
(MCOPS3) SOX2 [HSA:6657] [KO:K16796]
(MCOPS5) OTX2 [HSA:5015] [KO:K18490]
(MCOPS6) BMP4 [HSA:652] [KO:K04662]
(MCOPS7) HCCS [HSA:3052] [KO:K01764]
(MCOPS9) STRA6 [HSA:64220] [KO:K23088]
(MCOPS11) VAX1 [HSA:11023] [KO:K09318]
(MCOPS12) RARB [HSA:5915] [KO:K08528]
(MCOPS13) HMGB3 [HSA:3149] [KO:K11296]
(MCOPS14) MAB21L2 [HSA:10586]
(MCOPS15) TENM3 [HSA:55714] [KO:K24473]
(MCOPS16) RAX [HSA:30062] [KO:K09332]
H02335 Preimplantation embryonic lethality ... of female infertility. Recently, a mutation in TLE6, which encodes a protein participating in the subcortical maternal complex (SCMC), was reported to cause this disease. The SCMC is composed of maternally ... Reproductive system disease (PREMBL1) TLE6 [HSA:79816] [KO:K04497]
(PREMBL2) PADI6 [HSA:353238] [KO:K01481]
H02598 Progressive leukoencephalopathy ... Leukoencephalopathy with vanishing white matter [DS:H00869], Megaloencephalic leukoencephalopathy with subcortical cysts [DS:H00875], and progressive leukoencephalopathy with ovarian failure [DS:H02200]. Nervous system disease
H02622 Shukla-Vernon syndrome ... disability, seizures, behavioral abnormalities, and dysmorphisms. It has been reported that mutations in BCORL1 are associated with this disease. BCORL1, a transcriptional corepressor, is involved in negative ... Congenital malformation BCORL1 [HSA:63035] [KO:K26199]
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