ReviewItalian journal of pediatrics2014
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.
Review in Italian journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.Orphanet journal of rare diseases · 2024Pooled it
- VPS33B regulates MHC class II antigen presentation in dendritic cells to drive CD4 T cell immunity.iScience · 2026Article
- Safety and efficacy analysis of in vivo lentiviral gene therapy in pre-clinical ARC syndrome models.Nature communications · 2026Article
- ER-associated degradation pathway protein SEL1L plays an evolutionarily conserved role in platelet adhesion.The Journal of clinical investigation · 2026Article
- Article
- [Rare VPS33B gene mutation combined with GP1BA mutation causes severe decrease in plasma VWF levels: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings.Clinical case reports · 2024Article
- Neural Granger Causal Discovery for Derangements in ICU-Acquired Acute Kidney Injury Patients.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2024Article
- Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems.BMJ case reports · 2023Article
- Two novel mutations in theWorld journal of clinical cases · 2022Article
- One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.BMC nephrology · 2022Article
- Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.Journal of medical case reports · 2022Article
- Two novel mutations inFrontiers in pediatrics · 2022Article
- Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a NovelFrontiers in genetics · 2022Article
- Newer variants of progressive familial intrahepatic cholestasis.World journal of hepatology · 2021Review
- VPS33B suppresses lung adenocarcinoma metastasis and chemoresistance to cisplatin.Genes & diseases · 2021Article
- The ESCRT-III molecules regulate the apical targeting of bile salt export pump.Journal of biomedical science · 2021Article
- Hypersensitivity of Vps33B mutant flies to non-pathogenic infections is dictated by aberrant activation of p38b MAP kinase.Traffic (Copenhagen, Denmark) · 2020Article
- An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers.Pediatric nephrology (Berlin, Germany) · 2020Article
- A NovelPediatric gastroenterology, hepatology & nutrition · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledArthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare but fatal autosomal recessive multisystem disorder caused by mutations in the VPS33B or VIPAR gene. The classical presentation of ARC includes congenital joint contractures, renal tubular dysfunction, and cholestasis. Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive. Diagnosis of ARC syndrome relies on clinical features, organ biopsy, and mutational analysis. However, no specific treatment currently exists for this syndrome.
conclusionThis is an overview of the latest knowledge regarding the genetic features and clinical manifestations of ARC syndrome. Greater awareness and understanding of this syndrome should allow more timely intervention with potential for improving long-term outcome.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.