Gene Symbol CTSD
Gene ID 1509
Chromosomal Location 11p15.5
Genomic RefSeqGene NG_008655 18238 bp
Transcript RefSeq NM_001909.4 2141 bp
Protein RefSeq NP_001900 412
No. patients 18
No. families 13
DB Patient ID Other Patient ID Allele 1 nt (aa) Allele 2 nt (aa) Changes in same gene Changes in other genes Phenotype Progression Age at onset Histology Country of origin Country of residence Reference PMID Notes
Pa-ctsd.003 1_Fritchie_2009 p.(Ser100Phe) p.(Ser100Phe) congenital  at birth GRODs USA Fritchie et al., 2009 18762956
Pa-ctsd.001 1_Steinfeld_2006 p.(Phe229Ile) p.(Trp383Cys) juvenile  early school age GRODs Germany Steinfeld et al., 2006 16685649
Pa-ctsd.002 3_Siintola_2006 p.(Tyr255*) p.(Tyr255*) p.(Gly282Arg) in cis congenital  at birth GRODs Pakistan Siintola et al., 2006b 16670177
Pa-ctsd.015 Pa-ctsd.015 p.(Glu324Lys) p.(Glu324Lys) juvenile 11 y Canada D Callen pers comm N.A. global delay, seizures, no visual failure
Pa-ctsd.004 B3_Hersheson_2014 p.(Arg399His) p.(Arg399His) juvenile 8 y GRODs; granulovacuolar material in angular atrophic fibres of muscle Somalia UK Hersheson et al, Neurology, 2014 25298308 11% CatD activity; initially diagnosed with cerebellar ataxia and retinisits pigmentosa
Pa-ctsd.005 RAY54_Kousi_2011_novel c.353-17C>T late infantile Canada Kousi et al, Hum Mutat, 2012 21990111
Pa-ctsd.006 RAY45_Kousi_2011_novel c.353-12C>T late infantile Canada Kousi et al, Hum Mutat, 2012 21990111
Pa-ctsd.007 RAY42_Kousi_2011_novel c.827+13T>C late infantile Canada Kousi et al, Hum Mutat, 2012 21990111
Pa-ctsd.008 RAY46_Kousi_2011_novel c.828-17G>A late infantile Canada Kousi et al, Hum Mutat, 2012 21990111
Pa-ctsd.009 A3_Hersheson_2014 p.(Gly149Val) p.(Gly149Val)     juvenile   15 y GRODs; granulovacuolar material in angular atrophic fibres of muscle Somalia UK Hersheson et al, Neurology, 2014 25298308 sibs. initially diagnosed with cerebellar ataxia
Pa-ctsd.010 A4_Hersheson_2014 p.(Gly149Val) p.(Gly149Val) juvenile 15 y Somalia UK Hersheson et al, Neurology, 2014 25298308 also cardiomyopathy
Pa-ctsd.011 A5_Hersheson_2014 p.(Gly149Val) p.(Gly149Val) juvenile 15 y Somalia UK Hersheson et al, Neurology, 2014 25298308
Pa-ctsd.012 A8_Hersheson_2014 p.(Gly149Val) p.(Gly149Val)     juvenile   15 y   Somalia UK Hersheson et al, Neurology, 2014 25298308 11% CatD activity
Pa-ctsd.013 UCL473Pa p.(Lys331del) p.(Lys331del)     juvenile   14 y   The Netherlands   S Mole pers comm N.A. siblings, onset visual failure
Pa-ctsd.014 UCL473Pb p.(Lys331del) p.(Lys331del)     juvenile       The Netherlands   S Mole pers comm N.A.
Pa-ctsd.016   c.268_269insC c.268_269insC     congenital    at birth     Germany Meyer et al. Wien Med Wochenschr (2015)  26059544 severe epilepsy, respiratory compromise, severe cerebral and cerebellar hypoplasia
Pa-ctsd.017   c.268_269insC c.268_269insC     congenital    at birth     Germany Meyer et al. Wien Med Wochenschr (2015)  26059544 severe epilepsy, respiratory compromise, severe cerebral and cerebellar hypoplasia
Pa-ctsd.018   p.(Glu69Lys) p.(Glu69Lys) infantile by eight months GROD Italy Doccini et al. J Neurol (2016)  27072142 acquired microcephaly, cerebral atrophy, severely progressive epilepsy, hypertrophic cardiomyopathy
Notes
C - around birth, I - infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - varaint late infantile, J - juvenile (5-10 yr), A - adult 
GROD - Granular osmiophilic deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed