4.2.f
Disorders of vesicular trafficking
- Conserved oligomeric Golgi complex subunit 1 deficiency (COG1-CDG)
- Conserved oligomeric Golgi complex subunit 2 deficiency (COG2-CDG)
- Conserved oligomeric Golgi complex subunit 4 deficiency (COG4-CDG)
- Conserved oligomeric Golgi complex subunit 4 superactivity (Saul-Wilson syndrome)
- Conserved oligomeric Golgi complex subunit 5 deficiency (COG5-CDG)
- Conserved oligomeric Golgi complex subunit 6 deficiency (COG6-CDG)
- Conserved oligomeric Golgi complex subunit 7 deficiency (COG7-CDG)
- Conserved oligomeric Golgi complex subunit 8 deficiency (COG8-CDG)
- Jagunal 1 deficiency (Severe congenital neutropenia type 6)
- COPA deficiency (Autoimmune interstitial lung, joint, and kidney disease)
- COPB2 deficiency
- Archain 1 deficiency
- Craniolenticulosutural dysplasia
- Congenital dyserythropoietic anemia type 2 (SEC23B-CDG)
- TRIP11-CDG
- Spondyloepiphyseal dysplasia tarda
- TRAPPC2L deficiency
- TRAPPC4 deficiency
- TRAPPC6B deficiency
- TRAPPC9 deficiency
- TRAPPC11-CDG (Limb-girdle muscular dystrophy type 2S)
- TRAPPC12 deficiency
- GOSR2-CDG
- VPS45 deficiency
- Arthrogryposis-renal dysfunction-cholestasis syndrome type 2
- TANGO2 deficiency (Metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration – MECRCN)Â
- NBAS deficiency
- SCYL1 deficiency
- SCYL2 deficiency
- SCYL1-binding protein deficiency
- Famillial hemophagocytic lymphohistiocytosis type 3
- Famillial hemophagocytic lymphohistiocytosis type 4
- Famillial hemophagocytic lymphohistiocytosis type 5
- ARFGEF2 deficiency
- AP1S2 deficiency
- AP2S1 deficiency (Hypocalciuric hypercalcemia type 3)
- AP3B2 deficiency (Early infantile epileptic encephalopathy type 48)
- AP4B1 deficiency (Autosomal recessive spastic paraplegia type 47)
- AP4E1 deficiency (Autosomal recessive spastic paraplegia type 51)
- AP4M1 deficiency (Autosomal recessive spastic paraplegia type 50)
- AP4S1 deficiency (Autosomal recessive spastic paraplegia type 52)
- p34 deficiency
- Rubicon deficiency (Autosomal recessive spinocerebellar ataxia type 15)
- Grey platelet syndrome
- Combined factor V and factor VIII deficiency type 1
- Combined factor V and factor VIII deficiency type 2
- Dymeclin deficiency (Dyggve-Melchior-Clausen syndrome, severe; Smith-McCort dysplasia, milder)
- Carpenter syndrome
- RAB18 deficiency (Warburg micro syndrome type 3)
- RAB3GAP1 deficiency (Warburg micro syndrome type 1)
- RAB3GAP2 deficiency (Warburg micro syndrome type 2; Martsolf syndrome)
Subnetworks
CDG
Congenital disorders of glycosylation and disorders of intracellular trafficking
