Arthrogryposis–renal dysfunction–cholestasis syndrome

Other names: ARC syndrome[1]
A–D: Person AB. Aged (A) 3 years and (B) 5 years. Hyperkeratosis and lichenification of palm of right hand (C) and sole of left foot (D). E–I: Person CD. Facies aged 3 (E); in plaster after corrective hip surgery (F). Hyperkeratosis, dorsum of right foot (G). Radiographs of right foot showing vertical talus (H) and of pelvis showing hip dislocation (I).
Specialty| Dermatology

Arthrogryposis–renal dysfunction–cholestasis syndrome is a cutaneous condition caused by a mutation in the VPS33B gene.[2] 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.

## See also[edit | edit source]

* Multiple sulfatase deficiency
* List of cutaneous conditions

## References[edit | edit source]

1. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Arthrogryposis renal dysfunction cholestasis syndrome". www.orpha.net. Archived from the original on 30 July 2017. Retrieved 18 May 2019.
2. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

## External links[edit | edit source]

Classification|

* ICD-10: Q89.7
* OMIM: 208085
* MeSH: C535382

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External resources|

* Orphanet: 2697

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Inherited disorders of trafficking / vesicular transport proteins

Vesicle formation|

| Lysosome/Melanosome:|

* HPS1–HPS7
* Hermansky–Pudlak syndrome
* LYST
* Chédiak–Higashi syndrome

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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

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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

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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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