Hereditary Spastic Paraplegia - paediatric
Gene: FICD
Three unrelated families with recurrent homozygous missense variant: p.Arg374His
One further family with Chet variants: p.Arg 374His and p.Gly370GlufsTer53
Fibroblasts from patients with FICD variants have abnormally increased levels of AMPylated and thus inactivated BiP.
Onset of symptoms in childhood with progressive course. Presentation with severe lower limb spasticity and mild upper limb spascticity, nerve conduction test shows motor neuropathy.
Sources: LiteratureCreated: 3 Nov 2022, 3:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary motor neurone disease, FICD-related, MONDO:0024257
Publications
Phenotypes for gene: FICD were changed from Hereditary motor neurone disease, FICD-related, MONDO:0024257 to Spastic paraplegia 92, autosomal recessive, MIM# 620911
Gene: ficd has been classified as Green List (High Evidence).
Gene: ficd has been classified as Green List (High Evidence).
gene: FICD was added gene: FICD was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: FICD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FICD were set to 36136088 Phenotypes for gene: FICD were set to Hereditary motor neurone disease, FICD-related, MONDO:0024257 Review for gene: FICD was set to GREEN