Details of Disease

General Information of Disease (ID: DISZB072)

• Disease Name: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
• Synonyms: fibrosing serositis, familial; camptodactyly arthropathy pericarditis syndrome; hypertrophic synovitis, congenital familial; camptodactyly arthropathy coxa vara pericarditis syndrome; arthropathy camptodactyly syndrome; camptodactyly-arthropathy-coxa-vara-pericarditis syndrome; pericarditis arthropathy camptodactyly syndrome; PAC syndrome; congenital familial hypertrophic synovitis; pericarditis-arthropathy-camptodactyly syndrome; familial fibrosing serositis; CACP syndrome; arthropathy-camptodactyly syndrome; camptodactyly-arthropathy-pericarditis syndrome; camptodactyly-arthropathy-coxa vara-pericarditis syndrome; CACP; Jacobs syndrome
• Definition: Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.
• Disease Hierarchy:
  DISCPWH9: Autosomal recessive disease
  DIS8I9FS: Hereditary disorder of connective tissue
  DIS77ACK: Rheumatic disorder
  DISZB072: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008828
  MESH ID: C537560
  UMLS CUI: C1859690
  OMIM ID: 208250
  MedGen ID: 349226
  Orphanet ID: 2848
  SNOMED CT ID: 771187008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRG4	TTSKF4V	Strong	Biomarker	[1]
PRG4	TTSKF4V	Definitive	Autosomal recessive	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSTPIP1	OT4PGEAB	Strong	Biomarker	[3]
STAMBP	OTOT2OXM	Strong	Genetic Variation	[4]
PRG4	OT34NR3N	Definitive	Autosomal recessive	[2]

References

• [1] Friction-Induced Mitochondrial Dysregulation Contributes to Joint Deterioration in Prg4 Knockout Mice.Int J Mol Sci. 2017 Jun 11;18(6):1252. doi: 10.3390/ijms18061252.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [3] Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene.Clin Exp Dermatol. 2015 Jun;40(4):367-72. doi: 10.1111/ced.12585. Epub 2015 Feb 16.
• [4] Novel STAMBP mutation and additional findings in an Arabic family.Am J Med Genet A. 2015 Apr;167A(4):805-9. doi: 10.1002/ajmg.a.36782. Epub 2015 Feb 18.