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Entry Name Description Category Pathway Gene
H00149 Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis (NCL) is a group of severe neurodegenerative lysosomal storage diseases characterized by intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms ... Inherited metabolic disorder, Lysosomal disease (CLN1) PPT1 [HSA:5538] [KO:K01074]
(CLN2) TPP1 [HSA:1200] [KO:K01279]
(CLN3) CLN3 [HSA:1201] [KO:K12389]
(CLN4A/6) CLN6 [HSA:54982] [KO:K12359]
(CLN4B) DNAJC5 [HSA:80331] [KO:K09525]
(CLN5) CLN5 [HSA:1203] [KO:K12390]
(CLN7) MSFD8 [HSA:256471] [KO:K12307]
(CLN8) CLN8 [HSA:2055] [KO:K12360]
(CLN10) CTSD [HSA:1509] [KO:K01379]
(CLN11) GRN [HSA:2896] [KO:K23879]
(CLN12) ATP13A2 [HSA:23400] [KO:K13526]
(CLN13) CTSF [HSA:8722] [KO:K01373]
(CLN14) KCTD7 [HSA:154881] [KO:K21917]
H00810 Progressive myoclonic epilepsy ... and early death. PME include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), Dentatorubro-pallidoluysian atrophy (DRPLA) ... Nervous system disease (EPM1A) CSTB [HSA:1476] [KO:K13907]
(EPM1B) PRICKLE1 [HSA:144165] [KO:K04511]
(EPM2A) EPM2A [HSA:7957] [KO:K14165]
(EPM2B) NHLRC1 [HSA:378884] [KO:K10602]
(EPM3) KCTD7 [HSA:154881] [KO:K21917]
(EPM4) SCARB2 [HSA:950] [KO:K12384]
(EPM6) GOSR2 [HSA:9570] [KO:K08496]
(EPM7) KCNC1 [HSA:3746] [KO:K04887]
(EPM8) CERS1 [HSA:10715] [KO:K04710]
(EPM9) LMNB2 [HSA:84823] [KO:K07611]
(EPM10) PRDM8 [HSA:56978] [KO:K20797]
(EPM11) SEMA6B [HSA:10501] [KO:K06842]
(EPM12) SLC7A6OS [HSA:84138]
H00819 Stargardt disease
Fundus flavimaculatus 		... posterior pole of the retina. Histopathologically, eyes with STGD reveal abnormal accumulations of lipofuscin in the RPE. To date, mutations in four genes have been identified as causing STGD, including ABCA4 ... Nervous system disease (STGD1) ABCA4 [HSA:24] [KO:K05644]
(STGD3) ELOVL4 [HSA:6785] [KO:K10249]
(STGD4) PROM1 [HSA:8842] [KO:K06532]
H01028 Argininosuccinic aciduria
Argininosuccinate lyase deficiency 		... characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. Inherited metabolic disorder ASL [HSA:435] [KO:K01755]
H01425 Lysosomal storage disease ... degradation of sphingomyelin, Wolman disease 3. Defects in protein degradation: Neuronal ceroid lipofuscinosis, Lysosomal cysteine protease deficiencies, Acid phosphatase deficiency 4. Defects in lysosomal ... Inherited metabolic disorder
H01502 Sjogren syndrome ... infections, progressive caries, dysphagia and oral pain. Current tests for SS include sialometry, salivary scintigraphy, sialography, serological tests or minor salivary gland biopsies. Recently, salivary biomarkers ... Immune system disease
H02275 Batten disease
Spielmeyer-Vogt disease
Juvenile neuronal ceroid lipofuscinoses 		Batten disease, also known as Juvenile neuronal ceroid lipofuscinoses (JNCL), is an autosomal recessive lysosomal disease. It manifests with vision loss, followed by seizures and progressive neurodegeneration ... Inherited metabolic disorder, Lysosomal disease CLN3 [HSA:1201] [KO:K12389]
H02276 Kufs disease
Adult-onset neuronal ceroid lipofuscinosis 		Kufs disease, an adult-onset neuronal ceroid lipofuscinosis (NCL), differs from most other forms of NCL because the retina is not involved, and vision is preserved. The clinical presentation has been divided ... Inherited metabolic disorder, Lysosomal disease CLN6 [HSA:54982] [KO:K12359]
DNAJC5 [HSA:80331] [KO:K09525]
CTSF [HSA:8722] [KO:K01373]
H02277 Santavuori-Haltia disease
Infantile neuronal ceroid lipofuscinosis 		Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients ... Inherited metabolic disorder, Lysosomal disease PPT1 [HSA:5538] [KO:K01074]
H02278 Jansky-Bielschowsky disease
Late infantile neuronal ceroid lipofuscinosis 		Jansky-Bielschowsky disease, a classical late infantile neuronal ceroid lipofuscinosis (LINCL), is an autosomal recessive neurodegenerative disease with onset of symptoms between 2 and 4 years of age. ... Inherited metabolic disorder, Lysosomal disease TPP1 [HSA:1200] [KO:K01279]
H02279 Cathepsin D deficiency Cathepsin D deficiency underlies congenital neuronal ceroid-lipofuscinosis (NCL). It represents the earliest-onset and the most aggressive form of the NCL, leading to extreme brain atrophy and death soon ... Inherited metabolic disorder, Lysosomal disease CTSD [HSA:1509] [KO:K01379]
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