KEGG DISEASE: Early-onset progressive encephalopathy

KEGG

DISEASE: Early-onset progressive encephalopathy

Entry

H02472                      Disease

Name

Early-onset progressive encephalopathy

Subgroup

Early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS)
Early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB)

Description

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 reported in fibroblasts of patients.Early-onset progressive encephalopathy with episodic rhabdomyolysis (PEERB) is caused by mutations in TRAPPC2L. Both TRAPPC2L and TRAPPC12 are members of the TRAPP protein complex, which functions in membrane trafficking.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Epilepsy or seizures
   8A62  Epileptic encephalopathies
    H02472  Early-onset progressive encephalopathy

Gene

(PEBAS) TRAPPC12 [HSA:51112] [KO:K20309]
(PEERB) TRAPPC2L [HSA:51693] [KO:K20301]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Milev MP, Grout ME, Saint-Dic D, Cheng YH, Glass IA, Hale CJ, Hanna DS, Dorschner MO, Prematilake K, Shaag A, Elpeleg O, Sacher M, Doherty D, Edvardson S

Title

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Journal

Am J Hum Genet 101:291-299 (2017)
DOI:10.1016/j.ajhg.2017.07.006

Reference

Authors

Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM

Title

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Journal

J Med Genet 55:753-764 (2018)
DOI:10.1136/jmedgenet-2018-105441

LinkDB

» Japanese version

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