MCID: ARC004
MIFTS: 31

Arc Syndrome malady

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

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Sources:
65Wikipedia, 33MalaCards
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Wikipedia:65 Arthrogryposis?renal dysfunction?cholestasis syndrome (also known as \"ARC syndrome\") is a cutaneous... 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)). Affiliated tissues include liver.

Aliases & Classifications for Arc Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 62UMLS
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Classifications:

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


Aliases & Descriptions:

arc syndrome 8 43 10
arthrogryposis renal dysfunction cholestasis syndrome 43 20 22 62
arthrogryposis multiplex congenita, renal dysfunction, and cholestasis 43
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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Diseases related to Arc Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cholestasis30.7VPS33B
2vps33b-related arthrogryposis, renal dysfunction, and cholestasis syndrome10.3
3diabetes insipidus10.2
4nephrogenic diabetes insipidus10.2
5nephrocalcinosis10.0
6cerebritis10.0
7renal tubular acidosis10.0
8bursitis10.0
9arthrogryposis, renal dysfunction, and cholestasis 110.0

Graphical network of diseases related to Arc Syndrome:



Diseases related to arc syndrome

Symptoms for Arc Syndrome

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Drugs & Therapeutics for Arc Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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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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33MalaCards
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MalaCards organs/tissues related to Arc Syndrome:

33
Liver

Animal Models for Arc Syndrome or affiliated genes

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Publications for Arc Syndrome

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52PubMed
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Articles related to Arc Syndrome:

(show all 27)
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
Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. (18972129)
2009
8
Clinical characteristics and VPS33B mutations in patients with ARC syndrome. (19274792)
2009
9
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome. (18853461)
2009
10
A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth. (17994566)
2007
11
Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. (16758438)
2006
12
Clinical and molecular genetic features of ARC syndrome. (16896922)
2006
13
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. (16492441)
2006
14
Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis. (16354257)
2005
15
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review. (16155421)
2005
16
ARC syndrome. (15981766)
2005
17
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. (15052268)
2004
18
Liver biopsy complicated by hemorrhage in a patient with ARC syndrome. (15500499)
2004
19
ARC syndrome: an expanding range of phenotypes. (12138079)
2002
20
ARC syndrome is not so rare. (11897818)
2002
21
ARC syndrome: an expanding range of phenotypes. (11668108)
2001
22
Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? (9332665)
1997
23
Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. (8151641)
1994
24
The four-in-one arthroplasty for the painful arc syndrome. (7067240)
1982
25
Subacromial bursitis with loose bodies as a cause of refractory painful-arc syndrome. A case report. (7430208)
1980
26
The refractory painful arc syndrome. (711806)
1978
27
The painful arc syndrome. Clinical classification as a guide to management. (873977)
1977

Variations for Arc Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Arc Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1VPS33BNM_018668.4(VPS33B): c.1594C> T (p.Arg532Ter)single nucleotide variantPathogenicrs121434383GRCh37Chr 15, 91543193: 91543193
2VPS33BNM_018668.4(VPS33B): c.1312C> T (p.Arg438Ter)single nucleotide variantPathogenicrs121434384GRCh37Chr 15, 91545373: 91545373
3VPS33BNM_018668.4(VPS33B): c.89T> C (p.Leu30Pro)single nucleotide variantPathogenicrs121434385GRCh37Chr 15, 91565391: 91565391
4VPS33BNM_018668.3: c.240-577_290-156deldeletionPathogenicGRCh37Chr 15, 91557257: 91558240
5VPS33BVPS33B: c.1225+5G> Csingle nucleotide variantPathogenicrs398122407GRCh37Chr 15, 91548102: 91548102
6VPS33BNM_018668.4(VPS33B): c.1261_1262delCA (p.Gln421Valfs)deletionPathogenicrs398122408GRCh37Chr 15, 91546325: 91546326

Expression for genes affiliated with Arc Syndrome

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2BioGPS, 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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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
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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Arc Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet