Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

Preferred Label : Camptodactyly-arthropathy-coxa vara-pericarditis syndrome;

Symbol : CACP;

CISMeF acronym : CACP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cap syndrome; Hypertrophic synovitis, congenital familial; Camptodactyly-arthropathy-pericarditis syndrome; Arthropathy-camptodactyly syndrome; Jacobs syndrome; Pac syndrome; Pericarditis-arthropathy-camptodactyly syndrome; Fibrosing serositis, familial;

Description : The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by Faivre et al., 2000).;

Inheritance : Autosomal recessive;

Prefixed ID : #208250;

Details

Origin ID

208250;

UMLS CUI

C1859690;

Automatic exact mappings (from CISMeF team)
- 47, XYY syndrome [MeSH Supplementary Concept]
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [MedDRA Preferred Term]
- symbol withdrawn CACP [HGNC gene]
Currated CISMeF NLP mapping
- Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome (disorder) [SNOMED CT concept]
- Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome [ORDO Disease]
- Jacobs syndrome [MeSH concept]
- camptodactyly-arthropathy-coxa vara-pericarditis syndrome [DO Concept]
- jacobs syndrome [MeSH Supplementary Concept]
DO Cross reference
- camptodactyly-arthropathy-coxa vara-pericarditis syndrome [DO Concept]
False automatic mappings
- Craniosynostosis-anal anomalies-porokeratosis syndrome [ORDO Disease]
Genes related to phenotype
- Proteoglycan 4 [OMIM gene]
HPO term(s)
- Arthritis [HPO term]
- Arthropathy [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital finger flexion contractures [HPO term]
- Constrictive pericarditis [HPO term]
- Coxa vara [HPO term]
- Flattened metacarpal heads [HPO term]
- Flattened metatarsal heads [HPO term]
- Generalized morning stiffness [HPO term]
- Synovial hypertrophy [HPO term]
- Wrist flexion contracture [HPO term]
ORDO concept(s)
- Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome (disorder) [SNOMED CT concept]
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome [MedDRA Preferred Term]
- Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome [ORDO Disease]
- Jacobs syndrome [MeSH concept]
- camptodactyly-arthropathy-coxa vara-pericarditis syndrome [DO Concept]
- jacobs syndrome [MeSH Supplementary Concept]

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