MCID: CMP012
MIFTS: 39

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Categories: Genetic diseases, Rare diseases, Bone 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 57 12 53 75 37 13 73
Pericarditis-Arthropathy-Camptodactyly Syndrome 57 12 53 59 75
Arthropathy-Camptodactyly Syndrome 57 12 53 59 75
Jacobs Syndrome 57 12 53 59 75
Cacp Syndrome 12 53 59 55
Pac Syndrome 57 12 53 75
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome 53 29 6
Camptodactyly-Arthropathy-Pericarditis Syndrome 57 12 75
Fibrosing Serositis, Familial 57 53 75
Cap Syndrome 57 12 75
Cacp 57 12 75
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome 53 59
Hypertrophic Synovitis, Congenital Familial 57 75
Congenital Familial Hypertrophic Synovitis 12 53
Syndrome, Camptodactyly-Arthropathy-Coxa Vara-Pericarditis 40
Camptodactyly Arthropathy Pericarditis Syndrome 53
Pericarditis Arthropathy Camptodactyly Syndrome 53
Arthropathy Camptodactyly Syndrome 53
Familial Fibrosing Serositis 12
Cdags Syndrome 73
Coxa Vara 44

Characteristics:

Orphanet epidemiological data:

59
camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
camptodactyly-arthropathy-coxa vara-pericarditis syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 208250
Disease Ontology 12 DOID:0090127
Orphanet 59 ORPHA2848
UMLS via Orphanet 74 C1859690
MedGen 42 C1859690
KEGG 37 H00526

Summaries for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

NIH Rare Diseases : 53 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 pericarditis-arthropathy-camptodactyly syndrome, is related to coxa vara and cdags syndrome. An important gene associated with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome is PRG4 (Proteoglycan 4). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include testes, lung and heart, and related phenotypes are wrist flexion contracture and arthritis

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 : 57 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 : 75 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 coxa vara 27.9 AZU1 PRG4 TPR VTN
2 cdags syndrome 11.6
3 47,xyy 11.6
4 microcephaly-capillary malformation syndrome 11.1
5 pericarditis 11.0
6 arthropathy 11.0
7 creutzfeldt-jakob disease 10.9
8 arthritis 10.4
9 cataract 10.4

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 wrist flexion contracture 32 HP:0001239
2 arthritis 32 HP:0001369
3 constrictive pericarditis 32 HP:0002563
4 coxa vara 32 HP:0002812
5 arthropathy 32 HP:0003040
6 synovial hypertrophy 32 HP:0005186
7 flattened metatarsal heads 32 HP:0005194
8 generalized morning stiffness 32 HP:0005197
9 congenital finger flexion contractures 32 HP:0005879
10 flattened metacarpal heads 32 HP:0011909

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
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
3 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246

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 29 PRG4

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

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

41
Testes, Lung, Heart, 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 13)
# 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

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 extracellular matrix GO:0031012 8.96 PRG4 VTN
2 extrinsic component of membrane GO:0019898 8.62 AZU1 TPR

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

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.16 PRG4 VTN
2 receptor-mediated endocytosis GO:0006898 8.96 PRG4 VTN
3 immune response GO:0006955 8.8 AZU1 PRG4 VTN

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.16 AZU1 VTN
2 scavenger receptor activity GO:0005044 8.96 PRG4 VTN
3 polysaccharide binding GO:0030247 8.62 PRG4 VTN

Sources for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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