MCID: ARC004
MIFTS: 31

Arc Syndrome malady

Nephrological diseases category

Summaries for Arc Syndrome

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63Wikipedia, 32MalaCards
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Wikipedia:63 Arthrogryposis–renal dysfunction–cholestasis syndrome (also known as \"ARC syndrome\") is a... more...

MalaCards: 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)). The compound ganglioside have been mentioned in the context of this disorder. Affiliated tissues include liver.

Aliases & Classifications for Arc Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

arc syndrome 8 42 10
arthrogryposis renal dysfunction cholestasis syndrome 42 20 22 60
arthrogryposis multiplex congenita, renal dysfunction, and cholestasis 42
arthrogryposis-renal dysfunction-cholestasis 8


External Ids:

Disease Ontology8 DOID:0050763

Related Diseases for Arc Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Arc Syndrome:



Diseases related to arc syndrome

Clinical Features for Arc Syndrome

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Drugs & Therapeutics for Arc Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Arc Syndrome

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Arc Syndrome:

32
Liver

Animal Models for Arc Syndrome or affiliated genes

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Publications for Arc Syndrome

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50PubMed
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Articles related to Arc Syndrome:

(show all 30)
idTitleAuthorsYear
1
Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report. (23622807)
2013
2
ARC Syndrome Due to VIPAR Mutation is Another Cause of Neonatal Cholestasis with Normal Serum Gammaglutamyl Transferase Activity. (23636179)
2013
3
ARC syndrome in preterm baby. (24071963)
2013
4
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus. (22805396)
2012
5
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. (22753090)
2012
6
Agranular platelets as a cardinal feature of ARC syndrome. (20224444)
2010
7
Preview. Angelman syndrome: finding the lost arc. (20211128)
2010
8
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. (20211139)
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: an expanding range of phenotypes. (12138079)
2002
22
ARC syndrome is not so rare. (11897818)
2002
23
ARC syndrome: an expanding range of phenotypes. (11668108)
2001
24
Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? (9332665)
1997
25
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. (8151641)
1994
26
Recombinant alpha-2a interferon treatment in patients with acquired immunodeficiency syndrome (AIDS) and AIDS-related complex (ARC): clinical and immunological evaluation. (1811417)
1991
27
The four-in-one arthroplasty for the painful arc syndrome. (7067240)
1982
28
Subacromial bursitis with loose bodies as a cause of refractory painful-arc syndrome. A case report. (7430208)
1980
29
The refractory painful arc syndrome. (711806)
1978
30
The painful arc syndrome. Clinical classification as a guide to management. (873977)
1977

Genetic Variations for Arc Syndrome

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Expression for genes affiliated with Arc Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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44Novoseek
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Compounds related to Arc Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ganglioside449.0CEACAM5, LAMP1

GO Terms for genes affiliated with Arc Syndrome

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16Gene Ontology
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Cellular components related to Arc Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1early endosomeGO:0057699.0VIPAS39, VPS33A, VPS18
2late endosome membraneGO:0319028.6VPS33A, VPS18, VPS33B, VPS39
3HOPS complexGO:0308978.3VPS18, VPS33B, VPS33A, VPS39, VIPAS39
4late endosomeGO:0057708.2VIPAS39, VPS33B, LAMP1, VPS33A
5lysosomal membraneGO:0057657.7LAMP1, VPS39, VPS33A, VPS33B, VPS18, DPP4

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

idNameGO IDScoreTop Affiliating Genes
1lysosome localizationGO:0324189.7VPS33A, VPS33B
2melanosome localizationGO:0324009.6VPS33A, VPS33B
3vesicle docking involved in exocytosisGO:0069049.3VPS33A, VPS33B
4protein transportGO:0150319.2VPS39, VPS33A, VPS33B
5vesicle-mediated transportGO:0161929.0VPS33A, VPS33B, VPS18

Products for genes affiliated with Arc Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet