CACP
MCID: CMP012
MIFTS: 45

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 57 12 20 72 36 29 13 6 15 70
Jacobs Syndrome 57 12 20 58 72 44
Pericarditis-Arthropathy-Camptodactyly Syndrome 57 12 20 58 72
Arthropathy-Camptodactyly Syndrome 57 12 20 58 72
Cacp Syndrome 12 20 58 54
Pac Syndrome 57 12 20 72
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome 20 58 17
Camptodactyly-Arthropathy-Pericarditis Syndrome 57 12 72
Fibrosing Serositis, Familial 57 20 72
Cap Syndrome 57 12 72
Cacp 57 12 72
Hypertrophic Synovitis, Congenital Familial 57 72
Congenital Familial Hypertrophic Synovitis 12 20
Syndrome, Camptodactyly-Arthropathy-Coxa Vara-Pericarditis 39
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome 20
Camptodactyly Arthropathy Pericarditis Syndrome 20
Pericarditis Arthropathy Camptodactyly Syndrome 20
Arthropathy Camptodactyly Syndrome 20
Familial Fibrosing Serositis 12
Cdags Syndrome 70
Coxa Vara 44

Characteristics:

Orphanet epidemiological data:

58
camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
camptodactyly-arthropathy-coxa vara-pericarditis syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0090127
OMIM® 57 208250
KEGG 36 H00526
SNOMED-CT 67 771187008
UMLS via Orphanet 71 C1859690
Orphanet 58 ORPHA2848
MedGen 41 C1859690
UMLS 70 C1859690 C1864186

Summaries for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

GARD : 20 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 pericarditis and arthropathy. 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 Striated Muscle Contraction. Related phenotypes are arthritis and wrist flexion contracture

Disease Ontology : 12 A syndrome that is 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 autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) 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) (Updated 05-Apr-2021)

KEGG : 36 The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive disorder caused by mutations in the Proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Affected individuals present with arthropathy associated with camptodactyly. Some patients have pericarditis with effusions.

UniProtKB/Swiss-Prot : 72 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 : 73 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare autosomal recessive genetic... 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 133)
# Related Disease Score Top Affiliating Genes
1 pericarditis 32.0 VTN TPR PRG4
2 arthropathy 31.9 TPR PRG4 ACAN
3 coxa vara 31.8 VTN TPR PRG4 AZU1
4 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 11.6
5 cdags syndrome 11.6
6 47,xyy 11.6
7 spondyloepimetaphyseal dysplasia, strudwick type 11.5
8 microcephaly-capillary malformation syndrome 11.4
9 spondyloepimetaphyseal dysplasia, sponastrime type 11.4
10 spondylometaphyseal dysplasia, corner fracture type 11.3
11 coxa vara, congenital 11.3
12 spondyloepimetaphyseal dysplasia, missouri type 11.3
13 slipped capital femoral epiphysis 11.2
14 spondyloepiphyseal dysplasia congenita 11.2
15 metaphyseal chondrodysplasia, schmid type 11.2
16 lowry-wood syndrome 11.2
17 rhizomelic dysplasia, patterson-lowry type 11.2
18 beukes hip dysplasia 11.1
19 ophthalmomandibulomelic dysplasia 11.1
20 trichorhinophalangeal syndrome, type iii 11.1
21 spondyloepiphyseal dysplasia tarda, x-linked 11.1
22 osteogenesis imperfecta, type vii 11.1
23 saul-wilson syndrome 11.1
24 juvenile rheumatoid arthritis 10.7
25 autosomal recessive disease 10.6
26 legg-calve-perthes disease 10.5
27 avascular necrosis 10.5
28 orthostatic intolerance 10.4
29 constrictive pericarditis 10.4
30 hemopericardium 10.4
31 pericardial effusion 10.4
32 plica syndrome 10.4
33 synovitis 10.4
34 cataract 10.4
35 arthritis 10.4
36 brittle bone disorder 10.4
37 fibrous dysplasia 10.4
38 dysostosis 10.4
39 osteochondrosis 10.4
40 osteochondritis dissecans 10.4
41 overgrowth syndrome 10.4
42 crab allergy 10.3 TPM3 TPM2
43 crustacean allergy 10.3 TPM3 TPM2
44 snail allergy 10.3 TPM3 TPM2
45 heel spur 10.3 PRG4 ACAN
46 cleidocranial dysplasia 10.3
47 developmental dysplasia of the hip 1 10.3
48 spondyloepiphyseal dysplasia with congenital joint dislocations 10.3
49 bone disease 10.3
50 osteomalacia 10.3

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 wrist flexion contracture 31 HP:0001239
3 coxa vara 31 HP:0002812
4 congenital finger flexion contractures 31 HP:0005879
5 arthropathy 31 HP:0003040
6 synovial hypertrophy 31 HP:0005186
7 generalized morning stiffness 31 HP:0005197
8 constrictive pericarditis 31 HP:0002563
9 flattened metatarsal heads 31 HP:0005194
10 flattened metacarpal heads 31 HP:0011909

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
coxa vara

Cardiovascular:
constrictive pericarditis

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

Joints:
congenital finger flexion contractures
arthropathy
synovial hypertrophy
generalized morning stiffness
polyarticular large joint arthritis
more
Lab:
normal sedimentation rate

Clinical features from OMIM®:

208250 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 ACTA1 CFL2 NEB SELENON TNNT1 TNNT3

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Alberta Vascular Risk Reduction Community Pharmacy Project: RxEACH Completed NCT01979471

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

Publications for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

(show all 33)
# Title Authors PMID Year
1
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 6 57 61 54
10545950 1999
2
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. 61 57 6
29397575 2018
3
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 61 57
11102929 2000
4
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. 57 61
9550484 1998
5
Total hip arthroplasty in adolescents with severe hip arthropathy and dysplasia associated with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 61 20
22386609 2012
6
A syndrome of fibrosing pleuritis, pericarditis, and synovitis with infantile contractures of fingers and toes in 2 sisters: "familial fibrosing serositis". 57
8835575 1995
7
Familial erosive arthritis associated with camptodactyly. 57
2360003 1990
8
The camptodactyly-arthropathy-pericarditis syndrome: case report and literature review. 57
3964321 1986
9
A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. 57
3964320 1986
10
Congenital contractural deformities of the fingers and arthropathy. 57
4083939 1985
11
A familial syndrome of pericarditis, arthritis, and camptodactyly. 57
6866038 1983
12
The pathology of the involved tendons in patients with familial arthropathy and congenital camptodactyly. 57
6870971 1983
13
Familial arthritis and camptodactyly. 57
7306244 1981
14
Pathologic features of a familial arthropathy associated with congenital flexion contractures of fingers. 57
656159 1978
15
Needle biopsy of the synovium of children. 57
940709 1976
16
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: a mimicker of juvenile idiopathic arthritis. 20
26508154 2016
17
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort. 20
23756439 2014
18
Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing. 54 61
16000300 2005
19
The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. 61 54
15719068 2005
20
Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 54 61
15702367 2005
21
Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 61
32813152 2020
22
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome with Shoulder Joint Involvement: A Case Report with Literature Review. 61
29156476 2018
23
The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. 61
28291008 2017
24
Anti-lubricin monoclonal antibodies created using lubricin-knockout mice immunodetect lubricin in several species and in patients with healthy and diseased joints. 61
25642942 2015
25
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: important differential for juvenile idiopathic arthritis. 61
24083061 2013
26
A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. 61
22678705 2012
27
[Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis syndrome: a case report]. 61
21924065 2011
28
Lubricin: a novel potential biotherapeutic approaches for the treatment of osteoarthritis. 61
20099082 2011
29
A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family. 61
21565623 2011
30
Molecular signatures and new candidates to target the pathogenesis of rheumatoid arthritis. 61
20858714 2010
31
Novel PRG4 mutations underlie CACP in Saudi families. 54
16429407 2006
32
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. 61
16037531 2005
33
Camptodactyly, arthropathy, coxa vara, pericarditis (CACP)syndrome: a case report. 61
15608409 2004

Variations for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRG4 PRG4, 5-BP DEL, NT2805 Deletion Pathogenic 5651 GRCh37:
GRCh38:
2 PRG4 PRG4, 7-BP DEL, NT3240 Deletion Pathogenic 5652 GRCh37:
GRCh38:
3 PRG4 PRG4, 2-BP DEL, NT3023 Deletion Pathogenic 5653 GRCh37:
GRCh38:
4 PRG4 PRG4, 5-BP DEL, NT3690 Deletion Pathogenic 5654 GRCh37:
GRCh38:
5 PRG4 , TPR NM_003292.3(TPR):c.*217_*218delinsCT Indel Pathogenic 5655 rs387906339 GRCh37: 1:186282885-186282886
GRCh38: 1:186313753-186313754
6 PRG4 PRG4, IVS6, 41-BP INS Insertion Pathogenic 5656 GRCh37:
GRCh38:
7 PRG4 PRG4, EX1DEL Deletion Pathogenic 599362 GRCh37:
GRCh38:
8 PRG4 NM_005807.5(PRG4):c.1194del (p.Thr399fs) Deletion Pathogenic 684664 rs748663740 GRCh37: 1:186276043-186276043
GRCh38: 1:186306911-186306911
9 PRG4 , TPR NM_003292.3(TPR):c.*1657_*1674del Deletion Pathogenic 684665 rs1571587012 GRCh37: 1:186281429-186281446
GRCh38: 1:186312297-186312314
10 PRG4 NM_005807.5(PRG4):c.3277_3278del (p.Lys1093fs) Deletion Pathogenic 684666 rs1258207620 GRCh37: 1:186278127-186278128
GRCh38: 1:186308995-186308996
11 PRG4 , TPR NM_003292.3(TPR):c.*1093G>C SNV Pathogenic 684667 rs1388040598 GRCh37: 1:186282010-186282010
GRCh38: 1:186312878-186312878
12 PRG4 NM_005807.5(PRG4):c.2215A>T (p.Lys739Ter) SNV Pathogenic 684668 rs776645239 GRCh37: 1:186277066-186277066
GRCh38: 1:186307934-186307934
13 PRG4 NM_005807.5(PRG4):c.1911del (p.Glu638fs) Deletion Pathogenic 684669 rs1571569884 GRCh37: 1:186276762-186276762
GRCh38: 1:186307630-186307630
14 PRG4 NM_005807.5(PRG4):c.1910_1911del (p.Pro637fs) Deletion Pathogenic 684670 rs780281715 GRCh37: 1:186276761-186276762
GRCh38: 1:186307629-186307630
15 PRG4 NM_005807.5(PRG4):c.2841_2842del (p.Lys947fs) Deletion Pathogenic 684671 rs1475926873 GRCh37: 1:186277688-186277689
GRCh38: 1:186308556-186308557
16 PRG4 NM_005807.5(PRG4):c.849del (p.Val284fs) Deletion Pathogenic 684672 rs1571563202 GRCh37: 1:186275700-186275700
GRCh38: 1:186306568-186306568
17 PRG4 NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs) Deletion Pathogenic 800914 rs1571575523 GRCh37: 1:186277989-186277990
GRCh38: 1:186308857-186308858
18 PRG4 NM_005807.6(PRG4):c.1320dup (p.Lys441fs) Duplication Pathogenic 987918 GRCh37: 1:186276166-186276167
GRCh38: 1:186307034-186307035
19 PRG4 NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer) Microsatellite Pathogenic 992974 GRCh37: 1:186278091-186278097
GRCh38: 1:186308959-186308965
20 PRG4 NM_005807.6(PRG4):c.2078del (p.Pro693fs) Deletion Pathogenic 1031575 GRCh37: 1:186276926-186276926
GRCh38: 1:186307794-186307794
21 PRG4 , TPR NM_005807.6(PRG4):c.4064C>G (p.Ser1355Ter) SNV Pathogenic 1031576 GRCh37: 1:186281973-186281973
GRCh38: 1:186312841-186312841
22 PRG4 , TPR NM_005807.6(PRG4):c.4107del (p.Ser1371fs) Deletion Pathogenic 1032361 GRCh37: 1:186282015-186282015
GRCh38: 1:186312883-186312883
23 PRG4 NM_005807.6(PRG4):c.531_535del (p.Thr178fs) Deletion Pathogenic 1032362 GRCh37: 1:186273987-186273991
GRCh38: 1:186304855-186304859
24 PRG4 NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) Microsatellite Pathogenic/Likely pathogenic 974887 GRCh37: 1:186278090-186278091
GRCh38: 1:186308958-186308959
25 PRG4 NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs) Microsatellite Pathogenic/Likely pathogenic 973566 GRCh37: 1:186278961-186278964
GRCh38: 1:186309829-186309832
26 PRG4 NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter) Duplication Likely pathogenic 801585 rs1406678014 GRCh37: 1:186280690-186280691
GRCh38: 1:186311558-186311559
27 PRG4 NM_005807.6(PRG4):c.2247del (p.Ala750fs) Deletion Likely pathogenic 974881 GRCh37: 1:186277096-186277096
GRCh38: 1:186307964-186307964
28 PRG4 NM_005807.6(PRG4):c.3735_3736insAG (p.Ala1246fs) Insertion Likely pathogenic 976225 GRCh37: 1:186280670-186280671
GRCh38: 1:186311538-186311539
29 PRG4 NM_005807.5(PRG4):c.538C>T (p.Arg180Trp) SNV Benign 518309 rs2273779 GRCh37: 1:186273994-186273994
GRCh38: 1:186304862-186304862
30 PRG4 NM_005807.5(PRG4):c.1737T>C (p.Thr579=) SNV Benign 518310 rs778925933 GRCh37: 1:186276588-186276588
GRCh38: 1:186307456-186307456
31 PRG4 NM_005807.5(PRG4):c.3138A>G (p.Pro1046=) SNV Benign 518311 rs3737940 GRCh37: 1:186277989-186277989
GRCh38: 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 cytoskeleton GO:0005856 9.87 TPR TPM3 TPM2 NEB CLASP2 CFL2
2 actin filament GO:0005884 9.43 TPM3 TPM2 ACTA1
3 actin cytoskeleton GO:0015629 9.35 TPM3 TPM2 NEB CFL2 ACTA1
4 muscle thin filament tropomyosin GO:0005862 9.16 TPM3 TPM2
5 troponin complex GO:0005861 8.92 TNNT3 TNNT1 TNNI2 TNNI1

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 9.65 TPM3 TPM2 CFL2
2 sarcomere organization GO:0045214 9.5 TNNT3 TNNT1 CFL2
3 muscle contraction GO:0006936 9.5 TPM3 TPM2 TNNT3 TNNT1 TNNI2 TNNI1
4 skeletal muscle fiber development GO:0048741 9.46 SELENON ACTA1
5 skeletal muscle contraction GO:0003009 9.46 TNNT3 TNNT1 TNNI2 TNNI1
6 regulation of ATPase activity GO:0043462 9.43 TPM2 TNNT3
7 regulation of muscle contraction GO:0006937 9.43 TNNT3 TNNT1 TNNI2
8 transition between fast and slow fiber GO:0014883 9.4 TNNT1 TNNI1
9 regulation of striated muscle contraction GO:0006942 9.37 TNNT3 TNNI1
10 muscle filament sliding GO:0030049 9.23 TPM3 TPM2 TNNT3 TNNT1 TNNI2 TNNI1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring compression resistance GO:0030021 9.37 PRG4 ACAN
2 actin filament binding GO:0051015 9.35 TPM3 TPM2 NEB CLASP2 CFL2
3 tropomyosin binding GO:0005523 9.32 TNNT3 TNNT1
4 polysaccharide binding GO:0030247 9.26 VTN PRG4
5 actin binding GO:0003779 9.17 TPM3 TPM2 TNNT3 TNNI2 TNNI1 NEB
6 troponin T binding GO:0031014 9.16 TNNT1 TNNI2

Sources for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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