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Diseases
COMPLEX MOLECULE AND ORGANELLE METABOLISM
19 Disorders of organelle biogenesis, dynamics and interactions
19.6 Disorders of vesicular trafficking
19.6.4 Other disorders of vesicular trafficking
STX5-CDG
CAMLG-CDG
GET3 deficiency
GET4 deficiency
Jagunal 1 deficiency
COPA deficiency
COPB2 deficiency
Archain 1 deficiency
Craniolenticulosutural dysplasia
Congenital dyserythropoietic anemia type 2
TRIP11-CDG
ATP9A deficiency
GOSR2-CDG
VPS4A deficiency
VPS16 deficiency
VPS41
VPS45 deficiency
VPS51 deficiency
VPS53 deficiency
Syndetin deficiency
Arthrogryposis-renal dysfunction-cholestasis syndrome type 2
YIF1B deficiency
TANGO2 deficiency
NBAS deficiency
RINT1 deficiency
SCYL1 deficiency
SCYL2 deficiency
SCYL1-binding protein deficiency
Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis type 3
Familial hemophagocytic lymphohistiocytosis type 4
Familial hemophagocytic lymphohistiocytosis type 5
Golgin A2 deficiency
Syntaxin 16 deficiency
ARFGEF2 deficiency
p34 deficiency
Rubicon deficiency
Grey platelet syndrome
Combined factor V and factor VIII deficienc
Combined factor V and factor VIII deficiency type 1
Combined factor V and factor VIII deficiency type 2
Dymeclin deficiency
Carpenter syndrome
Warburg micro syndrome
Martsolf syndrome
RAB18 deficiency
RAB3GAP1 deficiency
RAB3GAP2 deficiency
RAB5 deficiency
RAB33B deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
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Home
Diseases
COMPLEX MOLECULE AND ORGANELLE METABOLISM
19 Disorders of organelle biogenesis, dynamics and interactions
19.6 Disorders of vesicular trafficking
19.6.4 Other disorders of vesicular trafficking
STX5-CDG
CAMLG-CDG
GET3 deficiency
GET4 deficiency
Jagunal 1 deficiency
COPA deficiency
COPB2 deficiency
Archain 1 deficiency
Craniolenticulosutural dysplasia
Congenital dyserythropoietic anemia type 2
TRIP11-CDG
ATP9A deficiency
GOSR2-CDG
VPS4A deficiency
VPS16 deficiency
VPS41
VPS45 deficiency
VPS51 deficiency
VPS53 deficiency
Syndetin deficiency
Arthrogryposis-renal dysfunction-cholestasis syndrome type 2
YIF1B deficiency
TANGO2 deficiency
NBAS deficiency
RINT1 deficiency
SCYL1 deficiency
SCYL2 deficiency
SCYL1-binding protein deficiency
Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis type 3
Familial hemophagocytic lymphohistiocytosis type 4
Familial hemophagocytic lymphohistiocytosis type 5
Golgin A2 deficiency
Syntaxin 16 deficiency
ARFGEF2 deficiency
p34 deficiency
Rubicon deficiency
Grey platelet syndrome
Combined factor V and factor VIII deficienc
Combined factor V and factor VIII deficiency type 1
Combined factor V and factor VIII deficiency type 2
Dymeclin deficiency
Carpenter syndrome
Warburg micro syndrome
Martsolf syndrome
RAB18 deficiency
RAB3GAP1 deficiency
RAB3GAP2 deficiency
RAB5 deficiency
RAB33B deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
SCYL1 deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
SCYL1
/ SCY1 Like Pseudokinase 1
11q13.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
SCY1 like pseudokinase 1
Disease group(s)
19.6.4 Other disorders of vesicular trafficking