MCID: ARC004
MIFTS: 34

Arc Syndrome malady

Nephrological category

Summaries for Arc Syndrome

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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 n syndrome 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 spleen, heart and kidney.

Aliases & Classifications for Arc Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 61UMLS
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Classifications:

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


Aliases & Descriptions:

arc syndrome 8 43 10
arthrogryposis renal dysfunction cholestasis syndrome 43 20 22 61
arthrogryposis multiplex congenita, renal dysfunction, and cholestasis 43
arthrogryposis-renal dysfunction-cholestasis 8


External Ids:

Disease Ontology8 DOID:0050763

Related Diseases for Arc Syndrome

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



Diseases related to arc syndrome

Clinical Features for Arc Syndrome

Drugs & Therapeutics for Arc Syndrome

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Arc Syndrome:

33
Spleen, Heart, Kidney, Liver, Skin, Myeloid, B cells, Fetal liver

Animal Models for Arc Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Arc Syndrome

Sources:
51PubMed
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Articles related to Arc Syndrome:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Crohn's disease masked by median arcuate ligament syndrome. (23876920)
2013
2
Palatal height and dental arch dimensions in Turner syndrome karyotypes. (23397057)
2013
3
Head and neck vessel size by angiography predicts neo-aortic arch obstruction after Norwood/Sano operation for hypoplastic left heart syndrome. (23388224)
2013
4
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. (23783273)
2013
5
Case report: Thoracic outlet syndrome in an elite archer in full-draw position. (23430722)
2013
6
Prenatal diagnosis of down syndrome associated with right aortic arch and dilated septum cavi pellucidi. (23056970)
2012
7
Antifungal activity of Arctotis arctotoides (L.f.) O. Hoffm. and Gasteria bicolor Haw. against opportunistic fungi associated with human immunodeficiency virus/acquired immunodeficiency syndrome. (22701287)
2012
8
Pathology of the aortic arch in hypoplastic left heart syndrome: surgical implications. (21104077)
2011
9
Malapropisms, or "the Archie Bunker syndrome," and frontotemporal dementia. (22231338)
2011
10
Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome). (21743015)
2011
11
Predictors of retrograde aortic arch obstruction after hybrid palliation of hypoplastic left heart syndrome. (20957474)
2011
12
Congenital stridor and wheezing as harbingers of the del22q11.2 syndrome presenting cardiovascular malformations of right aortic arch, aberrant left subclavian artery, Kommerell's diverticulum, and left ligamentum arteriosum. (20129799)
2011
13
The knee alignment and the foot arch in patients with Turner syndrome. (22027067)
2011
14
Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits. (20067957)
2010
15
Architecture of a native mitral valve thrombus in a patient with hypereosinophilic syndrome. (21053738)
2010
16
Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome. (20559786)
2010
17
Appearance of a double aortic arch in DiGeorge syndrome on ECG-gated 64 detector row computed tomography. (20133426)
2010
18
Aortic decision-making in the Loeys-Dietz syndrome: aortic root aneurysm and a normal-caliber ascending aorta and aortic arch. (19619806)
2009
19
Interrupted aortic arch type B in A patient with cat eye syndrome. (19629279)
2009
20
Posterior arch defects of the cervical spine: a comparison between absent pedicle syndrome and spondylolysis. (19233739)
2009
21
Unicuspid aortic valve and aortic arch aneurysm in a patient with Turner syndrome. (18515684)
2008
22
MeCP2 in Rett syndrome: transcriptional repressor or chromatin architectural protein? (17317146)
2007
23
Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I. (17958786)
2007
24
Aortic arch abnormality in a patient with Klippel-Feil syndrome. (16849023)
2006
25
Persistent fifth aortic arch associated with 22q11.2 deletion syndrome. (16618608)
2006
26
Transverse aortic arch replacement associated with MAGIC syndrome: case report and literature review. (16779521)
2006
27
Isolated persistent fifth aortic arch in a patient with Cornelia de Lange syndrome. (15565268)
2005
28
Interrupted aortic arch type C associated with DiGeorge syndrome in 22q11.2 deletion: first case detected in Japan. (16354229)
2005
29
Repair in infancy of right aortic arch with aberrant left brachiocephalic artery in the setting of a variant of the hypoplastic left heart syndrome. (15680052)
2004
30
Architecture of the X chromosome, expression of LIM kinase 1, and recombination in the agnostic mutants of Drosophila: a model of human Williams syndrome]. (15341266)
2004
31
ARPC1/Arc40 mediates the interaction of the actin-related protein 2 and 3 complex with Wiskott-Aldrich syndrome protein family activators. (15485833)
2004
32
Aplasia of zygomatic arch and dislocation of temporomandibular joint capsule in Treacher-Collins syndrome: three-dimensional reconstruction of computed tomographic scans. (14597369)
2003
33
A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? (11932993)
2002
34
Inflammatory response to chronic otitis media in DiGeorge syndrome: a case study using immunohistochemistry on archival temporal bone sections. (10453783)
1999
35
Symptomatic coronary-subclavian steal syndrome: report of a case with complete occlusion of proximal left subclavian artery and anomalous origin of left vertebral artery from the aortic arch. (10469979)
1999
36
Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. (10545604)
1999
37
Ulnar nerve compression syndrome due to an anomalous arch of the ulnar nerve piercing the flexor carpi ulnaris: a case report. (8683063)
1996
38
Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization. (8834234)
1996
39
Sensitive detection of abnormal aortic architecture in Marfan syndrome with high-frequency ultrasonic tissue characterization. (7850939)
1995
40
Hypoplastic left heart syndrome with right aortic arch in a newborn. (8518070)
1993
41
Congenital subclavian steal syndrome with anomaly of the aortic arch. (8351626)
1993
42
Distal aortopulmonary window with aortic origin of the right pulmonary artery and interruption of the aortic arch (Berry syndrome): diagnosis by MR imaging. (1892045)
1991
43
Goodpasture syndrome: molecular architecture and function of basement membrane antigen. (2671489)
1989
44
Interrupted right aortic arch in DiGeorge syndrome. (3663429)
1987
45
Hypersomnia, bithalamic lesions, and altered sleep architecture in Kearns-Sayre syndrome. (3982647)
1985
46
The teratogenic effects of a bis(dichloroacetyl)diamine on hamster embryos. Aortic arch anomalies and the pathogenesis of the DiGeorge syndrome. (3970137)
1985
47
Familial mixed deafness with branchial arch defects (earpits-deafness syndrome). (4075550)
1985
48
Radial palsy following muscular effort. A nerve compression syndrome possibly related to a fibrous arch of the lateral head of the triceps. (4327331)
1971
49
Congenital subclavian steal syndrome associated with right aortic arch. (5719010)
1968
50
Aortic arch syndrome with aortic incompetence. (6019429)
1967

Genetic Variations for Arc Syndrome

Expression for genes affiliated with Arc Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Arc Syndrome

Search GEO for disease gene expression data for Arc Syndrome.

Pathways for genes affiliated with Arc Syndrome

Compounds for genes affiliated with Arc Syndrome

Sources:
45Novoseek
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Compounds related to Arc Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ganglioside459.0CEACAM5, LAMP1

GO Terms for genes affiliated with Arc Syndrome

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

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

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

idNameGO IDScoreTop Affiliating Genes
1melanosome localizationGO:0324009.7VPS33B, VPS33A
2lysosome localizationGO:0324189.6VPS33B, VPS33A
3vesicle docking involved in exocytosisGO:0069049.3VPS33B, VPS33A
4protein transportGO:0150319.2VPS33B, VPS33A, VPS39
5vesicle-mediated transportGO:0161929.0VPS33A, VPS33B, VPS18

Products for genes affiliated with Arc Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Arc Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet