MCID: ARC004
MIFTS: 36

Arc Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases categories
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Summaries for Arc Syndrome

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Disease Ontology:8 A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused by homozygous or compound heterozygous mutation located in vps33b gene.

MalaCards based summary: Arc Syndrome, also known as arthrogryposis renal dysfunction cholestasis syndrome, is related to cholestasis and vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome. An important gene associated with Arc Syndrome is VPS33B (vacuolar protein sorting 33 homolog B (yeast)). Affiliated tissues include vps33b gene and liver.

Wikipedia:65 Arthrogryposis?renal dysfunction?cholestasis syndrome (also known as \"ARC syndrome\") is a cutaneous... more...

Descriptions from OMIM:46 613404,208085

Aliases & Classifications for Arc Syndrome

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Arc Syndrome, Aliases & Descriptions:

Name: Arc Syndrome 8 42 10
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 42 20 22 62
Arthrogryposis Multiplex Congenita, Renal Dysfunction, and Cholestasis 42
 
Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 8
Arthrogryposis, Renal Dysfunction, and Cholestasis 8
Arthrogryposis-Renal Dysfunction-Cholestasis 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


External Ids:

Disease Ontology8 DOID:0050763

Related Diseases for Arc Syndrome

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Graphical network of diseases related to Arc Syndrome:



Diseases related to arc syndrome

Symptoms for Arc Syndrome

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Clinical features from OMIM:

613404,208085

Drugs & Therapeutics for Arc Syndrome

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Drug clinical trials:

Search ClinicalTrials for Arc Syndrome

Search NIH Clinical Center for Arc Syndrome

Genetic Tests for Arc Syndrome

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Genetic tests related to Arc Syndrome:

id Genetic test Affiliating Genes
1 Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome20 VPS33B
2 Arthrogryposis Renal Dysfunction Cholestasis Syndrome22

Anatomical Context for Arc Syndrome

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MalaCards organs/tissues related to Arc Syndrome:

32
Liver

FMA organs/tissues related to Arc Syndrome:

14
Vps33b gene

Animal Models for Arc Syndrome or affiliated genes

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Publications for Arc Syndrome

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Articles related to Arc Syndrome:

(show all 28)
idTitleAuthorsYear
1
ArthrogryposisA?renal dysfunctionA?cholestasis (ARC) syndrome: from molecular genetics to clinical features. (25239142)
2014
2
ARC syndrome with high GGT cholestasis caused by VPS33B mutations. (24782640)
2014
3
Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report. (23622807)
2013
4
ARC Syndrome Due to VIPAR Mutation is Another Cause of Neonatal Cholestasis with Normal Serum Gammaglutamyl Transferase Activity. (23636179)
2013
5
ARC syndrome in preterm baby. (24071963)
2013
6
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. (22805396)
2012
7
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. (22753090)
2012
8
Agranular platelets as a cardinal feature of ARC syndrome. (20224444)
2010
9
Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. (18972129)
2009
10
Clinical characteristics and VPS33B mutations in patients with ARC syndrome. (19274792)
2009
11
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. (18853461)
2009
12
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. (17994566)
2007
13
Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. (16758438)
2006
14
Clinical and molecular genetic features of ARC syndrome. (16896922)
2006
15
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. (16492441)
2006
16
Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis. (16354257)
2005
17
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. (16155421)
2005
18
ARC syndrome. (15981766)
2005
19
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. (15052268)
2004
20
Liver biopsy complicated by hemorrhage in a patient with ARC syndrome. (15500499)
2004
21
ARC syndrome is not so rare. (11897818)
2002
22
ARC syndrome: an expanding range of phenotypes. (11668108)
2001
23
Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? (9332665)
1997
24
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. (8151641)
1994
25
The four-in-one arthroplasty for the painful arc syndrome. (7067240)
1982
26
Subacromial bursitis with loose bodies as a cause of refractory painful-arc syndrome. A case report. (7430208)
1980
27
The refractory painful arc syndrome. (711806)
1978
28
The painful arc syndrome. Clinical classification as a guide to management. (873977)
1977

Variations for Arc Syndrome

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Expression for genes affiliated with Arc Syndrome

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Expression patterns in normal tissues for genes affiliated with Arc Syndrome

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Pathways for genes affiliated with Arc Syndrome

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Compounds for genes affiliated with Arc Syndrome

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GO Terms for genes affiliated with Arc Syndrome

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Cellular components related to Arc Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1perinuclear region of cytoplasmGO:0484719.5VPS33B, VPS33A
2late endosomeGO:0057708.9VIPAS39, VPS33B, VPS33A
3early endosomeGO:0057698.3VPS33A, VPS18, VIPAS39
4late endosome membraneGO:0319028.1VPS33A, VPS18, VPS39, VPS33B
5lysosomal membraneGO:0057658.1VPS33A, VPS18, VPS39, VPS33B
6HOPS complexGO:0308977.6VIPAS39, VPS33B, VPS39, VPS18, VPS33A

Biological processes related to Arc Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosome localizationGO:0324009.6VPS33B, VPS33A
2lysosome localizationGO:0324189.5VPS33A, VPS33B
3protein transportGO:0150319.5VPS33B, VPS33A
4vesicle docking involved in exocytosisGO:0069049.2VPS33B, VPS33A
5intracellular protein transportGO:0068868.4VIPAS39, VPS39, VPS18
6vesicle-mediated transportGO:0161928.2VPS33B, VPS39, VPS18, VPS33A

Molecular functions related to Arc Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055158.2VIPAS39, VPS33B, VPS18, VPS33A

Products for genes affiliated with Arc Syndrome

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Sources for Arc Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet