KEGG DISEASE: Childhood-onset striatonigral degeneration

KEGG

DISEASE: Childhood-onset striatonigral degeneration

Entry

H02802                      Disease

Name

Childhood-onset striatonigral degeneration

Description

Childhood-onset striatonigral degeneration (SNDC) is an abrupt onset progressive neurological disorder with regression of developmental milestones. Characteristic MRI findings as degenerative changes in basal ganglia and periventricular region are noted in some patients. It has been reported that mutations in VAC14 cause this disease. VAC14 is a dimeric protein involved in intracellular vesicle transport through the endolysosome pathway. It regulates biosynthesis of phosphatidylinositol 3,5-bisphosphate that is critical for the survival of neural cells.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Disorders of autonomic nervous system
   8D87  Autonomic nervous system disorder due to certain specified neurodegenerative disorder
    H02802  Childhood-onset striatonigral degeneration

Gene

VAC14 [HSA:55697] [KO:K15305]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R

Title

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

Journal

Am J Hum Genet 99:188-94 (2016)
DOI:10.1016/j.ajhg.2016.05.008

Reference

Authors

Karaoglu P, Kose M

Title

Expanding the spectrum of VAC14 related pediatric-onset neurological disease; striatonigral degeneration with brainstem involvement.

Journal

Eur J Med Genet 64:104117 (2021)
DOI:10.1016/j.ejmg.2020.104117

LinkDB

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