KEGG   DISEASE: Spastic paraplegia-psychomotor retardation-seizures syndrome
Entry
H02293                      Disease                                
Name
Spastic paraplegia-psychomotor retardation-seizures syndrome
Description
Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase that regulates the activity of GTPases, including Rac1 and members of the Rab family.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Spinal cord disorders excluding trauma
   8B44  Degenerative myelopathic disorders
    H02293  Spastic paraplegia-psychomotor retardation-seizures syndrome
Gene
(SPPRS) HACE1 [HSA:57531] [KO:K12166]
Other DBs
ICD-11: 8B44.01
OMIM: 616756
Reference
PMID:26437029
  Authors
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME
  Title
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
  Journal
Nat Genet 47:1363-9 (2015)
DOI:10.1038/ng.3410
Reference
PMID:26424145
  Authors
Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT
  Title
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
  Journal
J Med Genet 52:797-803 (2015)
DOI:10.1136/jmedgenet-2015-103344
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