KEGG   DISEASE: Congenital facial palsy with ptosis and velopharyngeal dysfunction
Entry
H02594                      Disease                                
Name
Congenital facial palsy with ptosis and velopharyngeal dysfunction
Description
Congenital facial palsy with ptosis and velopharyngeal dysfunction (FPVEPD) is an autosomal dominant disorder caused by mutations in TUBB6, a gene encoding a class V tubulin. Tubulins form microtubules, which are essential for the cytoskeleton and thereby for cell division, differentiation and migration as well as intracellular trafficking.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Disorders of nerve root, plexus or peripheral nerves
   Disorders of cranial nerves
    8B8Y  Other specified disorders of cranial nerves
     H02594  Congenital facial palsy with ptosis and velopharyngeal dysfunction
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H02594  Congenital facial palsy with ptosis and velopharyngeal dysfunction
  nt06541  Cytoskeleton in neurons
   H02594  Congenital facial palsy with ptosis and velopharyngeal dysfunction
Pathway
hsa04540  Gap junction
Network
nt06515 Regulation of kinetochore-microtubule interactions
nt06541 Cytoskeleton in neurons
Gene
TUBB6 [HSA:84617] [KO:K07375]
Other DBs
ICD-11: 8B8Y
MeSH: D005158
OMIM: 617732
Reference
PMID:29016863
  Authors
Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nurnberg G, Thoenes M, Becker J, Altmuller J, Volk AE, Kubisch C, Heller R
  Title
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
  Journal
Hum Mol Genet 26:4055-4066 (2017)
DOI:10.1093/hmg/ddx296
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