arthrogryposis-renal dysfunction-cholestasis syndrome
Findings
No curated finding names arthrogryposis-renal dysfunction-cholestasis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017123), read 2026-09-29. CC BY 4.0.
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Very frequent (80% to 99% of cases)
- Abnormal alpha granulesHPOHP:0012483
- Frequent (30% to 79% of cases)
- Abnormal platelet aggregationHPOHP:0030402
- Frequent (30% to 79% of cases)
- Abnormal platelet countHPOHP:0011873
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- Chronic diarrheaHPOHP:0002028
- Frequent (30% to 79% of cases)
- Congenital bilateral hip dislocationHPOHP:0008780
- Frequent (30% to 79% of cases)
- Conjugated hyperbilirubinemiaHPOHP:0002908
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- HyperkeratosisHPOHP:0000962
- Frequent (30% to 79% of cases)
- IchthyosisHPOHP:0008064
- Frequent (30% to 79% of cases)
Reported absent (1)
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
Show the remaining 19
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Neonatal cholestatic liver diseaseHPOHP:0006566
- Frequent (30% to 79% of cases)
- Recurrent infectionsHPOHP:0002719
- Frequent (30% to 79% of cases)
- Renal Fanconi syndromeHPOHP:0001994
- Frequent (30% to 79% of cases)
- Renal tubular dysfunctionHPOHP:0000124
- Frequent (30% to 79% of cases)
- Cutis laxaHPOHP:0000973
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
2 names
Resolves to: arthrogryposis-renal dysfunction-cholestasis syndrome
- Also called
- ARC syndromearthrogryposis, renal dysfunction, and cholestasis