Skip to content
Use your HSA or FSA funds

Condition report · Gastrointestinal

ARC Syndrome 1 (VPS33B)

A rare, serious condition of infancy combining joint contractures (arthrogryposis), kidney tubule dysfunction and liver bile flow problems (cholestasis). It is caused by changes in both copies of the VPS33B gene.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The condition we analyse

Autosomal recessive

Caused by loss of function of both copies of VPS33B, a gene involved in sorting proteins inside cells, which affects liver, kidney and platelet function.

Signs and symptoms

Babies have joint contractures from birth, jaundice from cholestasis, and kidney problems. Some have platelet problems. Early death can occur.

What a diagnosis changes

Care is supportive, with nutrition, fat-soluble vitamin and fluid and salt replacement, and management of itch and infection. Carrier testing of relatives and genetic counselling are available, along with options for testing in future pregnancies.

Genes analysed

Also known as

ARCS1; arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B; VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome; VPS33B-related arthrogryposis, renal dysfunction, and cholestasis

MONDO:0008822OMIM 208085MedGen 347219Sources: [1][2][3]

Limitations

  • Some people with ARC syndrome have changes in a different gene, VIPAS39 (ARC syndrome 2), which is not covered by this report.

References

  1. Liu RJY, Al-Molieh Y, Chen SZ, Drobac M, Urban D, Chen CH et al., 2023. The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B. The Journal of biological chemistry
  2. Dai J, Lu Y, Wang C, Chen X, Fan X, Gu H et al., 2017. Vps33b regulates Vwf-positive vesicular trafficking in megakaryocytes. The Journal of pathology
  3. Carlton VE, Pawlikowska L, Bull LN, 2005. Molecular basis of intrahepatic cholestasis. Annals of medicine

Other gastrointestinal conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium