Arthrogryposis–renal dysfunction–cholestasis syndrome

Arthrogryposis–renal dysfunction–cholestasis syndrome
Classification and external resources
ICD-10	Q89.7
OMIM	208085
MeSH	C535382
Orphanet	2697

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.

References

↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

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

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