Arthrogryposis renal dysfunction cholestasis syndrome

A hereditary autosomal recessive disorder characterized by FAILURE TO THRIVE, arthrogryposis, MICROCEPHALY; MICROGNATHIA, cholestasis, renal insufficiency and LIVER DISEASES. Structural cardiac defects may also be present but are uncommon. Death usually occurs in infancy. Mutations in the VPS33B gene have been identified. OMIM: 208085

Also Known As:

Networked: 1007 relevant articles (22 outcomes, 77 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	AIDS-Related Complex (ARC)
2.	Neoplasms (Cancer)
3.	Melanoma (Melanoma, Malignant)
4.	Mitochondrial Diseases (Mitochondrial Disease)
5.	Arthrogryposis renal dysfunction cholestasis syndrome

Experts

1.	Cozzi, Luca: 12 articles (08/2016 - 12/2007)
2.	Fogliata, Antonella: 11 articles (08/2016 - 12/2007)
3.	Mintz, Gary S: 8 articles (01/2022 - 07/2003)
4.	Gissen, Paul: 8 articles (01/2016 - 04/2004)
5.	Hammer, John A: 6 articles (11/2022 - 03/2012)
6.	Sheng, Ke: 6 articles (01/2019 - 08/2011)
7.	Mancosu, Pietro: 6 articles (08/2016 - 12/2009)
8.	Scorsetti, Marta: 6 articles (08/2016 - 12/2009)
9.	Reidys, Christian M: 6 articles (12/2015 - 01/2008)
10.	Enkvist, Erki: 6 articles (01/2015 - 01/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Arthrogryposis renal dysfunction cholestasis syndrome:

1.	SolutionsIBA 09/04/1970 - "An improved solution for the gravity field shows ocean rises, as well as trench and island arcs, as mass excesses. " 11/01/2023 - "The PLANTdataHUB offers a solution that realizes RDM of scientific (meta)data as evolving collections of files in a directory - yielding FAIR digital objects called ARCs - with tools that enable scientists to plan, communicate, collaborate, publish, and reuse data on the same platform while gaining continuous quality control insights. " 09/27/2023 - "This method provides a suitable solution for the inspection of micro multi-section arcs in precision assembly with the potential to improve the accuracy of the inspection results." 06/14/2020 - "Meanwhile, the ARCS can be identical with the solution which is obtained by the single radar wave. " 01/13/2020 - "By fitting an ellipse to the imaged limb arcs, and exploiting some analytical results available from projective geometry, a closed form solution for computing the attitude matrix is provided. "
2.	Immune Sera (Antisera)IBA 12/01/1996 - "The serum samples selected for this study were exposed to rabbit hyperimmune antifilarial antisera and human immune antisera: specific arcs were observed in 35/60 filarial patients, of whom 24/47 were microfilaraemic and 11/13 amicofilaraemic. " 12/01/1996 - "The identity of rabbit hyperimmune antisera and loiasial immune sera was confirmed by the continuity of precipitation arcs. " 03/01/1995 - "Crossed immunoelectrophoresis of the stage 1 sHA, against stage 1 and 2 antisera showed multiple precipitin arcs; however, the anti-sHA coated erythrocyte serum produced only two arcs. " 04/01/1989 - "Serum immunoelectrophoresis demonstrated atypical precipitant arcs reacting with mu and kappa antisera. " 02/01/1983 - "Identification of radiolabelled precipitin arcs provided a highly sensitive method for confirming the specificity of antisera and for detecting VIIIR:Ag and Fn. "
3.	Phosphotransferases (Kinase)IBA 05/01/2010 - "Thus, we speculate that ArcS might have adopted the role of ArcB after a loss of the original sensor kinase, perhaps as a consequence of regulatory adaptation to a redox-stratified environment." 02/01/2013 - "Domain analysis of ArcS, the hybrid sensor kinase of the Shewanella oneidensis MR-1 Arc two-component system, reveals functional differentiation of its two receiver domains." 05/01/2010 - "Here, we identified the hybrid sensor kinase SO_0577, now designated ArcS, as the previously elusive cognate sensor kinase of the Arc system in Shewanella oneidensis MR-1. " 05/01/2010 - "ArcS, the cognate sensor kinase in an atypical Arc system of Shewanella oneidensis MR-1." 03/01/2010 - "The bisubstrate character (simultaneous association with both binding sites of the kinase) and high affinity of ARCs allow ARC-based probes and sensors to be used for characterization of inhibitors targeted to either binding site of the kinase with affinities in whole nanomolar to micromolar range. "
4.	Heterophile AntigensIBA 12/01/1979 - "The result obtained in this study are as follows: 1. A larger number of precipitin arcs were demonstrated in homologous antigen-antibody reactions than in heterologous antigen-antibody reactions both in Ouchterlony tests and immunoelectrophoreses. " 08/01/1984 - "However, when heterologous antigen or antibody preparations were added to BHV1 homologous 2-dimensional immunoelectrophoresis tests, all 11 BVH1 arcs were modified by BHV1, 2 by BHV2, 4 by BHV3 and 4 by SHV1 preparations. " 05/01/1980 - "When the antisera were subsequently absorbed with the dehydrated culture medium used to grow the peptostreptococci, all cross-reactions in heterologous antigen-antibody combinations were eliminated, leaving only species-specific precipitin arcs. "
5.	Gadolinium DTPA (Magnevist)FDA Link 11/01/1991 - "The rings and arcs of enhancement with Gd-DTPA on MR is a reflection of the lobulated growth pattern of cartilaginous tumors and therefore helpful in differential diagnosis of bone tumors." 06/01/1995 - "The MR study clearly showed the extent of the tumor and a "rings and arcs" pattern appeared after Gadolinium-DTPA administration in the T1 weighted images. " 11/01/1991 - "MR of enchondroma and chondrosarcoma: rings and arcs of Gd-DTPA enhancement."
6.	CalciumIBA 05/01/2012 - "By IVUS analysis, patients with HPR had significantly greater target lesion calcium lengths, calcium arcs, and calcium indexes. " 01/01/2022 - "The interaction of lesion morphology (continuous long and large arcs of calcium) and vessel geometry (bend in the vessel or ostial lesion location) affect lesion crossability." 10/01/2016 - "As a result, the mean late lumen area loss was significantly larger in lesions with calcium arcs of 0° and in the first and second quadrants than in those with calcium arcs in the third and fourth quadrants (2.8 ± 7.2, 1.3 ± 5.6, 0.6 ± 5.9, 1.2 ± 5.4, -0.8 ± 5.2 mm(2), respectively; p < 0.001). " 01/01/2016 - "The RA + CB and RA groups were similar in baseline mean arcs of superficial calcium, and minimum lumen cross-sectional areas (CSAs). " 12/01/2014 - "Using sea star oocytes we gain insights into the functions of endogenously expressed TPCs and ARCs in the context of the global calcium signals at fertilization. "
7.	Small Interfering RNA (siRNA)IBA 01/01/2020 - "Here, we report a method to generate antibody-siRNA (1:2) conjugates (ARCs) that are structurally defined and easy to assemble. " 01/01/2015 - "We report that such coupling generates monomeric antibody-siRNA conjugates (ARCs) that retain antibody and siRNA activities. " 05/11/2022 - "While antibody-siRNA conjugates (ARCs) provide an alternative way to address this challenge, the uncontrollable siRNA release potentially leads to undesirable off-tumor side effects, limiting their in vivo therapeutic efficacy. " 09/10/2019 - "Antibody-siRNA (and ASO) conjugates (ARCs) produced using this strategy are soluble, chemically defined targeted oligonucleotide therapeutics that have the potential to greatly increase the number of targetable cell types." 11/01/2023 - "Also, the current challenges in the use of siRNA therapeutics could be overcome by the emerging siRNA delivery methods, such as Antibody-siRNA conjugates (ARCs) and Gelatin-Antibody Delivery System (GADS), in the near future and these siRNAs could be employed as potential therapeutic agents against KRAS-mutated cancers. "
8.	PolymersIBA 08/27/2013 - "Here, we demonstrate that the two main drawbacks of moth eye-structured ARCs-i.e., the lack of suitable coating materials and a process for large area, high volume applications-can be largely eliminated, paving the way for cost-efficient and large-scale production of durable moth eye-structured ARCs on polymer substrates. " 09/27/2022 - "Here, we introduce polymer of intrinsic microporosity 1 (PIM-1) to design single-layer and multilayered all-inorganic antireflective coatings (ARCs) with excellent mechanical properties. " 07/20/2022 - "We demonstrate the feasibility of making antireflection coatings (ARCs) for terahertz (THz) light using multilayered polymer films from commercial adhesive tapes. " 06/05/2007 - "Thermally stable nanoporous organosilicate thin films were realized by the microphase separation of pore-generating polymers mixed with an organosilicate matrix to be antireflective coatings (ARCs), for which a thin film with a refractive index (n) of 1.23 for zero reflection is required. " 12/20/2013 - "In this paper, a polymer-based sol-gel route was devised to fabricate highly uniform and porous MgF2 ARCs on large-area glass substrates. "
9.	HydrogenIBA 01/01/2023 - "A decrease in the total pressure of the system from 900 mbar to 450 mbar resulted in an improved hydrogen utilization, thus suggesting that a larger population of H atoms can exist in the plasma arcs ignited under 450 mbar. " 09/01/1975 - "Vacuum ultraviolet radiometry with hydrogen arcs. " 07/01/1973 - "VUV Radiometry with Hydrogen Arcs. " 02/24/1922 - "DISSOCIATION OF HYDROGEN IN A TUNGSTEN FURNACE AND LOW VOLTAGE ARCS IN THE MONATOMIC GAS." 01/01/2021 - "Ce62, an almost complete ring, precipitates instantaneously in the presence of ammonium cations as two torqued arcs that interlock by hydrogen boding through NH4+, a structural motif not observed before in inorganic systems. "
10.	PrecipitinsIBA 05/01/2006 - "Aspergillus precipitins were quantitated by numbers of arcs and serum dilution and 11 (100%) showed improvement of at least one band or fall of titre. " 08/01/2012 - "Serum precipitins to the Shiitake mushroom spores were positive (3 precipitins arcs with high intensity) and as a result we advised the patient to cease his mushroom production activities. " 04/01/2005 - "Broncho-alveolar lavage revealed a marked lymphocytosis (63%) and precipitins for Microsporum Faeni were strongly positive (6 arcs). "

Therapies and Procedures

1.	Therapeutics 10/05/2011 - "The average daily beam time was 6 min (6 arcs, 767 monitor units); the total treatment time including patient set-up and set-up correction was less than 20 min. Combined therapy was well tolerated and complete remission was achieved. " 09/06/2012 - "The purpose of this study was to assess the feasibility of using a multiple partial volumetric-modulated arcs therapy (MP-VMAT) technique on the left breast irradiation and to evaluate the dosimetry and treatment efficiency. " 06/01/2012 - "Use of volumetric modulated rotational therapy by multiple non-coplanar arcs is an idea treatment modality to focus the high dose in the target area while spreading the low dose to even larger volume to reduce the middle range dose to surrounding critical organs. " 06/01/2012 - "The rotational therapy plans consisted of 2 to 3 arcs and the IMRT fields consisted of 7 to 9 fields. " 06/01/2012 - "Plans were designed for conformal 3D therapy (3DCRT) or for RapidArc with double partial arcs (RA). "
2.	Intensity-Modulated Radiotherapy (Radiotherapy, Intensity Modulated) 04/01/2017 - "For ipsilateral neck irradiation, a volumetric-modulated arc therapy technique using two 360° arcs with avoidance sectors around the contralateral parotid was dosimetrically comparable to intensity-modulated radiotherapy, with improved conformity (conformity index = 1.22 vs 1.36, p < 0.04) and lower contralateral parotid mean dose (5.6 vs 6.8Gy, p < 0.03). " 01/01/2023 - "The present ancillary study aimed to compare the dosimetric impact of adding non-coplanar arcs to the volumetric modulated arc therapy (VMAT) technique and to evaluate acute toxicities on the first patients included in this trial. " 10/01/2014 - "The objective of this study was to analyze the influence of the increment of gantry angle and the number of arcs on esophageal volumetric modulated arc therapy plan. " 10/01/2014 - "Influence of increment of gantry angle and number of arcs on esophageal volumetric modulated arc therapy planning in Monaco planning system: A planning study." 12/01/2023 - "An in-house script was created that split each of the 360-degree volumetric modulated arc therapy arcs into 12 sectors, with each sector being 30 degrees. "
3.	Radiotherapy 01/01/2012 - "This investigation focuses on possible dosimetric and efficiency advantages of HybridArc-a novel treatment planning approach combining optimized dynamic arcs with intensity-modulated radiation therapy (IMRT) beams. " 04/01/2020 - "Several studies have demonstrated potential improvements in treatment time through the use of dynamic arcs for delivery of stereotactic body radiation therapy (SBRT) on Cyberknife. " 08/01/2017 - "The purpose of this study was to evaluate the dosimetric and practical effects of the Monaco treatment planning system "max arcs-per-beam" optimization parameter in pelvic radiotherapy treatments. " 04/18/2016 - "Our study aimed to compare the dosimetric results of fractionated stereotactic radiotherapy between non-coplanar dynamic arcs and coplanar volumetric modulated arctherapy (Rapidarc®). " 12/01/2007 - "A treatment planning study was performed to evaluate the performance of new radiotherapy techniques based on non-coplanar multiple fields or on dynamic conformal arcs for early stage breast treatments. "
4.	Resistance Training 10/01/2009 - "Consequently, further studies are indicated to investigate if resistance training that incorporates multidirectional movement arcs is more effective than those used in conventional strength training programs. " 10/01/2009 - "Optimizing exercise outcomes: the efficacy of resistance training using conventional vs. novel movement arcs." 10/01/2009 - "The purpose of this study was to examine the effect of using multidirectional movement arcs in a resistance training program for the shoulder. " 10/01/2009 - "Group A was assigned a strength training program that used conventional curvilinear movement arcs. "
5.	Hip Replacement Arthroplasty (Total Hip Replacement) 03/01/2011 - "The large diameter head total hip arthroplasty group had significantly greater total arcs of motion (approximately 20°), mostly due to an increase of hip flexion and external rotation, but did not reach normal hip motion. " 01/01/2022 - "Hip precautions are often enforced after total hip arthroplasty without knowing normal arcs of motion during real-life activities. "