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arthrogryposis-renal dysfunction-cholestasis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis-renal dysfunction-cholestasis syndrome

MONDO:0017123

Also known as:ARC syndromearthrogryposis, renal dysfunction and cholestasis (ARC) syndromearthrogryposis, renal dysfunction, and cholestasis

Overview

Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.

OnsetCONGENITAL

ResearchLimited published research (8 articles)

Diagnosis

Biomarker and diagnostic research for arthrogryposis-renal dysfunction-cholestasis syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for arthrogryposis-renal dysfunction-cholestasis syndrome.

9 publications have been identified in PubMed for arthrogryposis-renal dysfunction-cholestasis syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Caluianu M (2026). [PMID: 41686830](https://pubmed.ncbi.nlm.nih.gov/41686830/). *PLoS One*. [Gene Therapy / Novel Therapeutics]
Díaz-Ajenjo L (2026). [PMID: 41138802](https://pubmed.ncbi.nlm.nih.gov/41138802/). *J Thromb Haemost*. [Case Report / Case Series]
Moustafa M (2026). [PMID: 41923461](https://pubmed.ncbi.nlm.nih.gov/41923461/). *Int J Surg Pathol*. [Case Report / Case Series]
Darouich S (2025). [PMID: 39856600](https://pubmed.ncbi.nlm.nih.gov/39856600/). *Pediatr Dev Pathol*. [Case Report / Case Series]
Yao HHY (2025). [PMID: 39617187](https://pubmed.ncbi.nlm.nih.gov/39617187/). *J Thromb Haemost*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2697

GARD

Genetic and Rare Diseases Info Center

GARD:794

Questions for Your Care Team

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arthrogryposis-renal dysfunction-cholestasis syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team