Research By Disease – CheckOrphan

Disease: Arthrogryposis renal dysfunction cholestasis syndrome

A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease
A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival
A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype
A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome
A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome
Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome
Advances in our understanding of the molecular basis of disorders of platelet function
Agranular platelets as a cardinal feature of ARC syndrome
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions
ARC syndrome
ARC syndrome in preterm baby
ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus
ARC syndrome with high GGT cholestasis caused by VPS33B mutations
Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report
ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features
Arthrogryposis-renal dysfunction-cholestasis syndrome
Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report
Arthrogryposis–renal dysfunction–cholestasis syndrome
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney
Arthrogryposis, renal dysfunction and cholestasis syndrome
Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation
Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems
Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review
Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature
Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI)
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification
Biliary malformation with renal tubular insufficiency in two male infants: third family report
Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)?
Characterization of a Novel Integrin Binding Protein, VPS33B, Which Is Important for Platelet Activation and In Vivo Thrombosis and Hemostasis
Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity
Clinical and molecular genetic features of ARC syndrome
Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings
Clinical characteristics and VPS33B mutations in patients with ARC syndrome
Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome
Constipation as an Atypical Sign of ARC Syndrome - Case Report
CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease
Current Strategies in Diagnosis of Inherited Storage Pool Defects
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia
Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome
Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report
Hepatic Vps33b deficiency aggravates cholic acid-induced cholestatic liver injury in male mice
Hypersensitivity of Vps33B mutant flies to non-pathogenic infections is dictated by aberrant activation of p38b MAP kinase
Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis
Identification of genes and signaling pathways associated with arthrogryposis-renal dysfunction-cholestasis syndrome using weighted correlation network analysis
Identification of genes and signaling pathways associated with arthrogryposis‑renal dysfunction‑cholestasis syndrome using weighted correlation network analysis
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome
Improvement of refractory pruritus after lipoprotein-apheresis in arthrogryposis-renal failure-cholestasis syndrome
Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene
Liver biopsy complicated by hemorrhage in a patient with ARC syndrome
Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus
Metabolomics and Lipidomics Reveal the Effect of Hepatic Vps33b Deficiency on Bile Acids and Lipids Metabolism
Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant
Molecular basis of intrahepatic cholestasis
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Nonsyndromic paucity of interlobular bile ducts: report of 10 patients
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome
One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype
Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome
Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome
Recycling endosomes in apical plasma membrane domain formation and epithelial cell polarity
Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis
Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis
Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report
Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?
Sorting machineries: how platelet-dense granules differ from α-granules
The complex phenotype of ARC syndrome: A new case
The full-of-bacteria gene is required for phagosome maturation during immune defense in Drosophila
The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome
The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage
The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B
The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis
The zebrafish mutant lbk/vam6 resembles human multisystemic disorders caused by aberrant trafficking of endosomal vesicles
Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report
Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China
Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function
Vps33b is crucial for structural and functional hepatocyte polarity
VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype
Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes
VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes
Vps33b regulates Vwf-positive vesicular trafficking in megakaryocytes
Wide spectrum of clinical features in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome
Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6
α-granule biogenesis: from disease to discovery