CACP
MCID: CMP012
MIFTS: 46

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

MalaCards integrated aliases for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:

Name: Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 58 12 54 76 38 13 15 74
Jacobs Syndrome 58 12 54 60 76 45
Pericarditis-Arthropathy-Camptodactyly Syndrome 58 12 54 60 76
Arthropathy-Camptodactyly Syndrome 58 12 54 60 76
Cacp Syndrome 12 54 60 56
Pac Syndrome 58 12 54 76
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome 54 30 6
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome 54 60 17
Camptodactyly-Arthropathy-Pericarditis Syndrome 58 12 76
Fibrosing Serositis, Familial 58 54 76
Cap Syndrome 58 12 76
Cacp 58 12 76
Hypertrophic Synovitis, Congenital Familial 58 76
Congenital Familial Hypertrophic Synovitis 12 54
Syndrome, Camptodactyly-Arthropathy-Coxa Vara-Pericarditis 41
Camptodactyly Arthropathy Pericarditis Syndrome 54
Pericarditis Arthropathy Camptodactyly Syndrome 54
Arthropathy Camptodactyly Syndrome 54
Familial Fibrosing Serositis 12
Cdags Syndrome 74
Coxa Vara 45

Characteristics:

Orphanet epidemiological data:

60
camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
camptodactyly-arthropathy-coxa vara-pericarditis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090127
OMIM 58 208250
KEGG 38 H00526
UMLS via Orphanet 75 C1859690
Orphanet 60 ORPHA2848
MedGen 43 C1859690

Summaries for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

NIH Rare Diseases : 54 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare condition which causes joint abnormalities that begin at birth or during early childhood. The name comes from the main symptoms, including permanent bending of the fingers (camptodactyly), joint disease (arthropathy), and changes in the hip joint resulting in shortened legs and a possible limp (coxa vara). Some people with CACP also have too many cells between their joints (synovial hyperplasia) and too much fluid around the heart (pericardial effusion) or lungs (pleural effusion).  Camptodactyly-arthyropathy-coxa vara-pericarditis syndrome is caused by a mutation in the PRG4 gene. This gene is responsible for making a protein that lubricates the joints.The condition is inherited in an autosomal recessive manner. CACP may be at first confused with juvenile idiopathic arthritis because the two diseases have similar symptoms.  Diagnosis is based on clinical findings (symptoms which the doctor notices on a physical exma) and a biopsy of the fluid between the joints (synovial fluid).Genetic testing can confirm the diagnosis. Treatment options such as physical therapy and pain medication focus on relieving symptoms of the disease. The medication for juvenile idiopathic arthritis is not helpful for those with CACP.

MalaCards based summary : Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome, also known as jacobs syndrome, is related to coxa vara and coxa vara, congenital. An important gene associated with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome is PRG4 (Proteoglycan 4), and among its related pathways/superpathways are Cardiac conduction and Cardiac muscle contraction. The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and testes, and related phenotypes are arthritis and wrist flexion contracture

Disease Ontology : 12 An autosomal recessive disease characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has material basis in homozygous mutation in the PRG4 gene on chromosome 1q31.

OMIM : 58 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). (208250)

UniProtKB/Swiss-Prot : 76 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions.

Wikipedia : 77 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare genetic condition due to a mutation... more...

Related Diseases for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Diseases related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 coxa vara 31.5 PRG4 TPR VTN
2 coxa vara, congenital 12.4
3 spondyloepimetaphyseal dysplasia, strudwick type 11.9
4 cdags syndrome 11.8
5 47,xyy 11.8
6 spondylometaphyseal dysplasia, corner fracture type 11.8
7 ischiocoxopodopatellar syndrome 11.7
8 slipped capital femoral epiphysis 11.6
9 epiphyseal dysplasia, microcephaly, and nystagmus 11.6
10 spondyloepimetaphyseal dysplasia, missouri type 11.4
11 beukes hip dysplasia 11.3
12 metaphyseal chondrodysplasia, schmid type 11.3
13 spondyloepimetaphyseal dysplasia, sponastrime type 11.3
14 rhizomelic dysplasia, patterson-lowry type 11.3
15 osteogenesis imperfecta, type vii 11.3
16 pillay syndrome 11.3
17 microcephaly-capillary malformation syndrome 11.2
18 nipah virus disease 11.2
19 creutzfeldt-jakob disease 11.1
20 pericarditis 11.1
21 arthropathy 11.1
22 arthritis 10.6
23 cataract 10.6
24 pseudoarthrosis 10.5
25 legg-calve-perthes disease 10.3
26 cerebral palsy 10.3
27 joint disorders 10.3
28 osteochondritis dissecans 10.3
29 osteochondrosis 10.3
30 fibrous dysplasia 10.3
31 dysostosis 10.3
32 idiopathic avascular necrosis 10.3
33 achondroplasia 10.2
34 mccune-albright syndrome 10.2
35 neural tube defects 10.2
36 tetralogy of fallot 10.2
37 brittle bone disorder 10.2
38 hemangioma 10.2
39 osteopetrosis 10.2
40 osteomyelitis 10.2
41 osteomalacia 10.2
42 rickets 10.2
43 protein-losing enteropathy 10.2
44 microcephaly 10.2
45 hypoparathyroidism 10.2
46 synostosis 10.2
47 renal osteodystrophy 10.2
48 ankylosis 10.2
49 col1a1/2-related osteogenesis imperfecta 10.2
50 cleidocranial dysplasia spectrum disorder 10.2

Graphical network of the top 20 diseases related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:



Diseases related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Symptoms & Phenotypes for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Human phenotypes related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 arthritis 33 HP:0001369
2 wrist flexion contracture 33 HP:0001239
3 coxa vara 33 HP:0002812
4 congenital finger flexion contractures 33 HP:0005879
5 arthropathy 33 HP:0003040
6 generalized morning stiffness 33 HP:0005197
7 synovial hypertrophy 33 HP:0005186
8 constrictive pericarditis 33 HP:0002563
9 flattened metatarsal heads 33 HP:0005194
10 flattened metacarpal heads 33 HP:0011909

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
coxa vara

Lab:
normal sedimentation rate

Radiology:
flattened metacarpal and metatarsal heads
flattened proximal femoral ossification centers

Joints:
congenital finger flexion contractures
arthropathy
generalized morning stiffness
polyarticular large joint arthritis
elbow and wrist contractures
more
Cardiovascular:
constrictive pericarditis

Clinical features from OMIM:

208250

Drugs & Therapeutics for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Drugs for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved 329-65-7 838
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 6013 10204
4 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
2 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246
3 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562

Search NIH Clinical Center for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Cochrane evidence based reviews: coxa vara

Genetic Tests for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Genetic tests related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:

# Genetic test Affiliating Genes
1 Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome 30 PRG4

Anatomical Context for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

MalaCards organs/tissues related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:

42
Lung, Heart, Testes, Brain, Bone

Publications for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Articles related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:

(show all 11)
# Title Authors Year
1
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome with Shoulder Joint Involvement: A Case Report with Literature Review. ( 29156476 )
2017
2
The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. ( 28291008 )
2017
3
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: important differential for juvenile idiopathic arthritis. ( 24083061 )
2013
4
Total hip arthroplasty in adolescents with severe hip arthropathy and dysplasia associated with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ( 22386609 )
2012
5
A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. ( 22678705 )
2012
6
A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family. ( 21565623 )
2011
7
Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ( 15702367 )
2005
8
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. ( 16037531 )
2005
9
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ( 11102929 )
2000
10
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly- arthropathy-coxa vara-pericarditis syndrome. ( 10545950 )
1999
11
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. ( 9550484 )
1998

Variations for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

ClinVar genetic disease variations for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRG4 PRG4, 5-BP DEL, NT2805 deletion Pathogenic
2 PRG4 PRG4, 7-BP DEL, NT3240 deletion Pathogenic
3 PRG4 PRG4, 2-BP DEL, NT3023 deletion Pathogenic
4 PRG4 PRG4, 5-BP DEL, NT3690 deletion Pathogenic
5 PRG4 NM_005807.4(PRG4): c.4190_4191delCCinsAG (p.Ser1397Ter) indel Pathogenic rs387906339 GRCh37 Chromosome 1, 186282885: 186282886
6 PRG4 NM_005807.4(PRG4): c.4190_4191delCCinsAG (p.Ser1397Ter) indel Pathogenic rs387906339 GRCh38 Chromosome 1, 186313753: 186313754
7 PRG4 PRG4, IVS6, 41-BP INS insertion Pathogenic
8 PRG4 NM_005807.4(PRG4): c.538C> T (p.Arg180Trp) single nucleotide variant Benign rs2273779 GRCh38 Chromosome 1, 186304862: 186304862
9 PRG4 NM_005807.4(PRG4): c.538C> T (p.Arg180Trp) single nucleotide variant Benign rs2273779 GRCh37 Chromosome 1, 186273994: 186273994
10 PRG4 NM_005807.4(PRG4): c.1737T> C (p.Thr579=) single nucleotide variant Benign rs778925933 GRCh37 Chromosome 1, 186276588: 186276588
11 PRG4 NM_005807.4(PRG4): c.1737T> C (p.Thr579=) single nucleotide variant Benign rs778925933 GRCh38 Chromosome 1, 186307456: 186307456
12 PRG4 NM_005807.4(PRG4): c.3138A> G (p.Pro1046=) single nucleotide variant Benign rs3737940 GRCh37 Chromosome 1, 186277989: 186277989
13 PRG4 NM_005807.4(PRG4): c.3138A> G (p.Pro1046=) single nucleotide variant Benign rs3737940 GRCh38 Chromosome 1, 186308857: 186308857
14 PRG4 PRG4, EX1DEL deletion Pathogenic

Expression for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Search GEO for disease gene expression data for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome.

Pathways for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

GO Terms for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Cellular components related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.16 TPM2 TPM3
2 troponin complex GO:0005861 8.96 TNNI2 TNNT3
3 muscle thin filament tropomyosin GO:0005862 8.62 TPM2 TPM3

Biological processes related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.4 TPM2 TPM3
2 cardiac muscle contraction GO:0060048 9.37 TNNI2 TNNT3
3 skeletal muscle contraction GO:0003009 9.32 TNNI2 TNNT3
4 regulation of muscle contraction GO:0006937 9.26 TNNI2 TNNT3
5 muscle contraction GO:0006936 9.26 TNNI2 TNNT3 TPM2 TPM3
6 regulation of ATPase activity GO:0043462 9.16 TNNT3 TPM2
7 muscle filament sliding GO:0030049 8.92 TNNI2 TNNT3 TPM2 TPM3

Molecular functions related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 9.16 PRG4 VTN
2 polysaccharide binding GO:0030247 8.96 PRG4 VTN
3 actin binding GO:0003779 8.92 TNNI2 TNNT3 TPM2 TPM3

Sources for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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