KEGG   DISEASE: Halperin-Birk syndrome
Entry
H03035                      Disease                                
Name
Halperin-Birk syndrome
Description
Halperin-Birk syndrome (HLBKS) is a lethal autosomal recessive neurological syndrome characterized by spastic quadriplegia with multiple contractures, profound developmental delay and convulsions. Brain MRIs of patients demonstrate microcephaly, semilobar holoprosencephaly and agenesis of corpus callosum. It has been reported that mutations in SEC31A cause this syndrome. SEC31A encodes a component of the COP-II complex, trafficking newly synthesized proteins from the endoplasmic reticulum to the Golgi.
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
   H03035  Halperin-Birk syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06550  Lysosome biogenesis
   H03035  Halperin-Birk syndrome
Network
nt06550 Lysosome biogenesis
Gene
SEC31A [HSA:22872] [KO:K14005]
Other DBs
ICD-11: LD90.Y
OMIM: 618651
Reference
PMID:30464055
  Authors
Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS
  Title
SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
  Journal
J Med Genet 56:139-148 (2019)
DOI:10.1136/jmedgenet-2018-105503
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