Arthrogryposis–renal dysfunction–cholestasis syndrome

Arthrogryposis–renal dysfunction–cholestasis syndrome
Classification and external resources
OMIM	208085

Arthrogryposis–renal dysfunction–cholestasis syndrome (also known as "ARC syndrome") is a cutaneous condition caused by a mutation in the VPS33B gene.^[1] Most of the cases have been survived for infancy. Recently, College of Medical Sciences in Nepal reports a case of ARC syndrome in a girl at the age of more than 18 years.^[2]

References

↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
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Inherited disorders of trafficking / vesicular transport proteins

Vesicle formation

Lysosome/Melanosome:	HPS1-HPS7 Hermansky–Pudlak syndrome LYST Chédiak–Higashi syndrome

COPII:	SEC23A Cranio–lenticulo–sutural dysplasia

COG7 CDOG IIE

APC:	AP1S2 X-linked intellectual disability AP3B1 Hermansky–Pudlak syndrome 2 AP4M1 CPSQ3

Rab

ARL6 BBS3

RAB27A Griscelli syndrome 2

CHM Choroideremia MLPH Griscelli syndrome 3

Cytoskeleton

Myosin:	MYO5A Griscelli syndrome 1

Microtubule:	SPG4 Hereditary spastic paraplegia 4

Kinesin:	KIF5A Hereditary spastic paraplegia 10

Spectrin:	SPTBN2 Spinocerebellar ataxia 5

Vesicle fusion

Synaptic vesicle:	SNAP29 CEDNIK syndrome STX11 Hemophagocytic lymphohistiocytosis 4

Caveolae:	CAV1 Congenital generalized lipodystrophy 3 CAV3 Limb-girdle muscular dystrophy 2B, Long QT syndrome 9

Vacuolar protein sorting:	VPS33B ARC syndrome VPS13B Cohen syndrome

DYSF Distal muscular dystrophy

See also vesicular transport proteins

Index of cells

Description	Structure nucleus chromosome genetics Organelles peroxisome cytoskeleton centrosome epithelia cilia mitochondria Membranes proteins cell adhesions Membrane transport ion channels vesicular transport solute carrier ABC transporters ATPase oxidoreduction-driven

Disease	Structural peroxisome cytoskeleton cilia mitochondria nucleus scleroprotein Membrane channelopathy solute carrier ATPase ABC transporters other extracellular ligands cell surface receptors intracellular signalling Vesicular transport Pore-forming toxins