ORPHA:2848
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Synonyms: Arthropathy-camptodactyly syndrome · CACP syndrome · Pericarditis-arthropathy-camptodactyly syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | Arthropathy-camptodactyly syndrome · CACP syndrome · Pericarditis-arthropathy-camptodactyly syndrome |
| fr | Syndrome de camptodactylie-arthropathie-coxa vara-péricardite | CACP · Syndrome d'arthropathie-camptodactylie · Syndrome de péricardite-arthrite-camptodactylie |
| de | Kamptodaktylie-Arthropathie-Coxa vara-Perikarditis-Syndrom | Arthropathie-Kamptodaktylie-Syndrom · CACP-Syndrom · Jacobs-Syndrom · Perikarditis - Arthritis - Kamptodaktylie |
| es | Síndrome de camptodactilia-artropatía-coxa vara-pericarditis | Pericarditis-artropatía-camptodactilia · Síndrome CACP · Síndrome de artropatía-camptodactilia |
| it | Sindrome da camptodattilia, artropatia, coxa vara, pericardite | Pericardite - artropatia - camptodattilia · Sindrome CACP · Sindrome artropatia-camptodattilia · Sindrome di Jacobs |
| nl | Camptodactylie - artropathie - coxa vara - pericarditis-syndroom | Artropathie - camptodactylie-syndroom · CACP-syndroom · Pericarditis - artropathie - camptodactylie-syndroom · Syndroom van Jacobs |
| pt | Síndrome de camptodactilia-artropatia-coxa vara-pericardite | Síndrome CACP · Síndrome Jacobs · Síndrome de artropatia-camptodactilia · Síndrome de pericardite-artropatia-campodactilia |
| pl | Zespół kamptodaktylia-artropatia-biodro szpotawe-zapalenie osierdzia | Zapalenie osierdzia - artropatia - kamptodaktylia · Zespół artropatia-kamptodaktylia · Zespół CACP · Zespół Jacobs |
| cs | Syndrom zahrnující kamptodaktylii, artropatii, coxa vara a perikarditidu | Syndrom zahrnující artropatii a kamptodaktylii · CACP syndrom · Syndrom zahrnující perikarditidu, artropatii a kamptodaktylii · Jacobsův syndrom |
| uk | Синдром камптодактилії-артропатії-coxa vara-перикардиту | Синдром артропатії-камптодактилії · Синдром CACP · Синдром перикардиту-артропатії-камптодактилії |
| zh | 屈曲指-关节病-髋内翻-心包炎综合征 | 心包炎-关节病-屈曲指综合征 |
| tr | Kamptodaktili-artropati-koksa-vara-perikardit sendromu | CACP sendromu · Jacobs sendromu · Artropati-kamptodaktili sendromu · Perikardit-artropati-kamptodaktili sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208250 | E | validated | |
| ICD-10 | M12.8 | NTBT | attributed | validated |
| ICD-11 | FA5Y | NTBT | attributed | validated |
| MONDO | 0008828 | E | validated | |
| MeSH | C537560 | E | validated | |
| UMLS | C1859690 | E | validated | |
| GARD | 306 | E | validated | |
| MedDRA | 10083494 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRG4 | Disease-causing germline mutation(s) in | Assessed | HGNC:9364 | ENSG00000116690 | 604283 | 1q31.1 | proteoglycan 4 | 10545950[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | 15702367[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2024-07-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0001836 | Camptodactyly of toe | |
| HP:0002812 | Coxa vara | |
| HP:0008812 | Flattened femoral head | |
| HP:0005086 | Knee osteoarthritis | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0003940 | Osteoarthritis of the elbow | |
| HP:0005195 | Polyarticular arthropathy | |
| HP:0001225 | Wrist swelling | |
| Frequent (79-30%) | ||
| HP:0012062 | Bone cyst | |
| HP:0000939 | Osteoporosis | |
| HP:0100864 | Short femoral neck | |
| Occasional (29-5%) | ||
| HP:0001653 | Mitral regurgitation | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001701 | Pericarditis | |
| HP:0002102 | Pleuritis | |
| Very rare (<4-1%) | ||
| HP:0001541 | Ascites | |
| HP:0008610 | Infantile sensorineural hearing impairment | |
| HP:0100018 | Nuclear cataract | |
| Excluded (0%) | ||
| HP:0033331 | Acute phase response | |
| HP:0002960 | Autoimmunity | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 29397575[PMID]_32813152[PMID]_22678705[PMID]_34012381[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2848
- This record as JSON: /data/d/2848.json