KEGG   DISEASE: Neurodevelopmental disorder with parkinsonism or other movement abnormalities
Entry
H03045                      Disease                                
Name
Neurodevelopmental disorder with parkinsonism or other movement abnormalities
Description
Neurodevelopmental disorder with parkinsonism or other movement abnormalities (NEDPAM) is a novel autosomal recessive disorder caused by mutations in EPG5. The age-dependent phenotypic spectrum of this disease includes rapidly progressive adolescent-onset movement disorders, such as parkinsonism with dystonia and subsequent cognitive decline. EPG5 encodes the ectopic P-granules 5 autophagy protein, which plays a key role in autophagosome-lysosome fusion.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H03045  Neurodevelopmental disorder with parkinsonism or other movement abnormalities
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06550  Lysosome biogenesis
   H03045  Neurodevelopmental disorder with parkinsonism or other movement abnormalities
Network
nt06550 Lysosome biogenesis
Gene
EPG5 [HSA:57724] [KO:K23883]
Other DBs
ICD-11: LD90.Y
OMIM: 621506
Reference
  Authors
Dafsari HS, Deneubourg C, Singh K, Maroofian R, Suprenant Z, Kho AL, Ingham NJ, Steel KP, Sheshadri P, Baur F, Hentrich L, Gerisch B, Zamani M, Alves C, Siddiqui A, Dafsari HS, Salari M, Lang AE, Harris M, Abdelaleem A, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Sedaghat A, Zeighami J, Calame D, Marafi D, Duan R, Boehnke A, Clark GD, Rosenfeld JA, Mohila CA, Steel D, Chopra S, Sharma S, Kohlschmidt N, Patzer S, Saffari A, Ebrahimi-Fakhari D, Cavdartepe BE, Chang IJ, Beckman E, Peters R, Fennell AP, Lo B, Averdunk L, Distelmaier F, Baethmann M, Elmslie F, Joost K, Nampoothiri S, Yesodharan D, Mandel H, Kimball A, Kline AD, Mignot C, Keren B, Laugel V, Ounap K, Devadathan K, van Berkestijn FMC, Silwal A, Koene S, Verma S, Karim MY, Boubidi C, Aziz M, ElGhazali G, Mattas L, Miryounesi M, Hashemi-Gorji F, Alavi S, Nouri N, Noruzinia M, Kavousi S, Kamath A, Jayawant S, Saneto R, Haridy NA, Kart PO, Cansu A, Joubert M, Beneteau C, Stuurman KE, Wilke M, Barakat TS, Tajsharghi H, Scardamaglia A, Vallian S, Hiz S, Shoeibi A, Boostani R, Hashemi N, Babaei M, Alsaleh NS, Porter J, Attie-Bitach T, Marzin P, Wicher D, Gold JI, Schuler E, Kashgari A, Alanazi RF, Eyaid W, Engelen M, Langeveld M, Stuve B, Li Y, Yigit G, Wollnik B, Monje MHG, Krainc D, Mencacci NE, Bakhtiari S, Kruer M, Argilli E, Sherr E, Jamshidi Y, Karimiani EG, Cheung YWS, Karin I, Zifarelli G, Bauer P, Chung WK, Lupski JR, Kurian MA, Dotsch J, von Kleist-Retzow JC, Klopstock T, Wagner M, Yip C, Roos A, Carsetti R, Dionisi-Vici C, Gautel M, Duchen MR, Antebi A, Houlden H, Fanto M, Jungbluth H
  Title
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
  Journal
Ann Neurol 98:932-950 (2025)
DOI:10.1002/ana.78013
Reference
  Authors
Sun QY, Tang FL, Zhou Y, Pan HX, Zhou X, Zhao YW, He RC, Zeng S, Wang JP, Lin W, Zeng WQ, Wang DD, Wang XJ, Liu ZH, Xu Q, Li JC, Yan XX, Guo JF, Qiu J, Tang BS
  Title
Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.
  Journal
Ann Neurol 98:369-385 (2025)
DOI:10.1002/ana.27242
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