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CACP
MCID: CMP012
MIFTS: 60

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

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

Name: Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 57 11 19 73 28 12 5 14 38 71 75
Jacobs Syndrome 57 11 19 58 73 43
Pericarditis-Arthropathy-Camptodactyly Syndrome 57 11 19 58 73
Arthropathy-Camptodactyly Syndrome 57 11 19 58 73
Cacp Syndrome 11 19 58 53
Pac Syndrome 57 11 19 73
Xyy Syndrome 19 42 58 75
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome 19 58 16
Camptodactyly-Arthropathy-Pericarditis Syndrome 57 11 73
Fibrosing Serositis, Familial 57 19 73
Double Y Syndrome 19 58 28
47, Xyy Syndrome 19 75 71
47,xyy Syndrome 19 42 58
Cap Syndrome 57 11 73
Cacp 57 11 73
Hypertrophic Synovitis, Congenital Familial 57 73
Congenital Familial Hypertrophic Synovitis 11 19
Xyy Karyotype 19 42
Yy Syndrome 19 42
Y Disomy 19 58
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome 19
Camptodactyly Arthropathy Pericarditis Syndrome 19
Pericarditis Arthropathy Camptodactyly Syndrome 19
Arthropathy Camptodactyly Syndrome 19
Familial Fibrosing Serositis 11
Jacob's Syndrome 42
Cdags Syndrome 71
Disomy Y 19
Double Y 19
47,xyy 75

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

47,xyy Syndrome: 1-5/10000 (Denmark) 58
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

47,xyy Syndrome: All ages 58
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome: Childhood,Infancy,Neonatal 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare systemic and rhumatological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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MedlinePlus Genetics: 42 47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of an individual's cells. Although many people with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most individuals with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal male sexual development, and they are usually able to father children.47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Affected children can have delayed development of motor skills (such as sitting and walking) or weak muscle tone (hypotonia). Other signs and symptoms of this condition include hand tremors or other involuntary movements (motor tics), seizures, and asthma. Individuals with 47,XYY syndrome have an increased risk of behavioral, social, and emotional difficulties compared with their unaffected peers. These problems include attention-deficit/hyperactivity disorder (ADHD); depression; anxiety; and autism spectrum disorder, which is a group of developmental conditions that affect communication and social interaction.Physical features related to 47,XYY syndrome can include increased belly fat, a large head (macrocephaly), unusually large teeth (macrodontia), flat feet (pes planus), fifth fingers that curve inward (clinodactyly), widely spaced eyes (ocular hypertelorism), and abnormal side-to-side curvature of the spine (scoliosis). These characteristics vary widely among people with this condition.

MalaCards based summary: Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome, also known as jacobs syndrome, is related to pericarditis and dilated cardiomyopathy. 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 pathway. The drugs Aluminum hydroxide and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and prostate, and related phenotypes are delayed speech and language development and low-set ears

Orphanet 58 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome: 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.

47,xyy syndrome: A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.

GARD: 19 47, XYY syndrome is a syndrome (group of signs and symptoms) that affects males. For some males with this syndrome, signs and symptoms are barely noticeable. For others, signs and symptoms may include learning disabilities, speech delay, low muscle tone (hypotonia), and being taller than expected. 47, XYY syndrome is caused by having an extra copy of the Y chromosome in every cell of the body. The syndrome is usually not inherited. Diagnosis can be made based on prenatal tests, or it may occur during childhood or adulthood if a male has signs or symptoms of the disease.

UniProtKB/Swiss-Prot: 73 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.

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 08-Dec-2022)

Disease Ontology: 11 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.

Wikipedia 75 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare autosomal recessive genetic medical... more...

47,xyy: XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an... more...
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Related Diseases for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

(show top 50) (show all 248)
# Related Disease Score Top Affiliating Genes
1 pericarditis 32.0 VTN PRG4 AZU1
2 dilated cardiomyopathy 29.5 TPM2 TNNI1 NEB CRYAA CFL2 ACTA1
3 cdags syndrome 11.6
4 microcephaly-capillary malformation syndrome 11.3
5 partial deletion of y 11.1
6 coxa vara 11.0
7 arthropathy 11.0
8 osteoarthritis 11.0
9 down syndrome 10.8
10 malaria, mild 10.8
11 47 xxx syndrome 10.8
12 juvenile rheumatoid arthritis 10.7
13 pericardial effusion 10.6
14 hypogonadotropic hypogonadism 10.4
15 orthostatic intolerance 10.4
16 constrictive pericarditis 10.4
17 synovitis 10.4
18 cataract 10.4
19 arthritis 10.4
20 autism spectrum disorder 10.4
21 nemaline myopathy 10.2 TPM2 NEB ACTA1
22 cap myopathy 10.2 TPM3 TPM2
23 severe congenital nemaline myopathy 10.2 NEB ACTA1
24 hypogonadism 10.2
25 intermediate congenital nemaline myopathy 10.2 TPM3 NEB ACTA1
26 prader-willi syndrome 10.2
27 46,xx sex reversal 1 10.2
28 psychotic disorder 10.2
29 arthrogryposis, distal, type 10 10.2 TPM2 TNNT3 TNNI2
30 fissured tongue 10.2 TPM2 TNNT3 TNNI2
31 arthrogryposis, distal, type 2b1 10.2 TPM2 TNNT3 TNNI2
32 arthrogryposis, distal, type 5 10.2 TPM2 TNNT3 TNNI2
33 arthrogryposis, distal, type 5d 10.2 TPM2 TNNT3 TNNI2
34 attention deficit-hyperactivity disorder 10.2
35 autism 10.2
36 cerebellar atrophy, developmental delay, and seizures 10.2
37 male infertility 10.2
38 azoospermia 10.2
39 oligospermia 10.2
40 turner syndrome 10.2
41 infertility 10.2
42 48,xyyy 10.2
43 tremor 10.2
44 rigid spine muscular dystrophy 10.2 SELENON ACTA1
45 arthrogryposis, distal, type 2b3 10.2 TPM2 TNNT3 TNNI2
46 lethal congenital contracture syndrome 4 10.2 TPM2 TNNT3 TNNI2
47 arthrogryposis, distal, type 7 10.1 TPM2 TNNT3 TNNI2
48 spondylocarpotarsal synostosis syndrome 10.1 TPM2 TNNT3 TNNI2
49 androgen insensitivity syndrome 10.1
50 centralopathic epilepsy 10.1

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



Diseases related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
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Symptoms & Phenotypes for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

58 30 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000750
2 low-set ears 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000369
3 motor delay 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001270
4 malar flattening 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000272
5 tall stature 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000098
6 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000256
7 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001249
8 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000316
9 neonatal hypotonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001319
10 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007018
11 specific learning disability 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001328
12 asthma 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002099
13 impulsivity 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100710
14 finger clinodactyly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0040019
15 impaired social interactions 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000735
16 congenital stationary night blindness 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007642
17 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001250
18 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000238
19 macroorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000053
20 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000028
21 increased circulating gonadotropin level 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000837
22 micropenis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000054
23 azoospermia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000027
24 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000047
25 male infertility 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003251
26 oligospermia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000798
27 abnormal brainstem morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002363
28 dysgenesis of the cerebellar vermis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002195
29 increased serum testosterone level 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0030088
30 varicocele 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012871
31 cerebellar dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007033
32 coxa vara 58 30 Very frequent (99-80%)
 HP:0002812
33 behavioral abnormality 58 Frequent (79-30%)
34 arthritis 30 HP:0001369
35 ascites 58 Very rare (<4-1%)
36 osteoporosis 58 Frequent (79-30%)
37 mitral valve prolapse 58 Occasional (29-5%)
38 mitral regurgitation 58 Occasional (29-5%)
39 pericarditis 58 Occasional (29-5%)
40 wrist flexion contracture 30 HP:0001239
41 camptodactyly of finger 58 Very frequent (99-80%)
42 bone cyst 58 Frequent (79-30%)
43 lumbar hyperlordosis 58 Very frequent (99-80%)
44 congenital finger flexion contractures 30 HP:0005879
45 autistic behavior 58 Occasional (29-5%)
46 hyperactivity 58 Frequent (79-30%)
47 pleuritis 58 Occasional (29-5%)
48 increased inflammatory response 58 Excluded (0%)
49 camptodactyly of toe 58 Very frequent (99-80%)
50 flattened femoral head 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

GenomeRNAi Phenotypes related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 ACAN ACTA1 ASCC1 AZU1 CFL2 CINP
2 no effect GR00402-S-2 10.13 ACAN ACTA1 ASCC1 CFL2 CINP PRG4

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.56 ACAN ACTA1 CFL2 KBTBD13 NEB SELENON
2 mortality/aging MP:0010768 9.47 ACAN ACTA1 ASCC1 CFL2 CINP NEB
Sources

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

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 4 21645-51-2
2 Vaccines Phase 4
3
Azelaic acid Approved Phase 3 123-99-9 2266
4
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
5
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
6 Dermatologic Agents Phase 3
7 Neurotransmitter Agents Phase 3
8
Brimonidine Tartrate Phase 3 70359-46-5
9 Adrenergic alpha-Agonists Phase 3
10 Adrenergic Agonists Phase 3
11 Adrenergic Agents Phase 3
12 Antihypertensive Agents Phase 3
13
Eptifibatide Approved, Investigational Phase 2 188627-80-7 448812
14 Platelet Aggregation Inhibitors Phase 2
15 Hormones Phase 2
16 Emollients Phase 1
17 Immunoglobulins Phase 1
18 Antibodies, Monoclonal Phase 1
19 Antibodies Phase 1
20 Immunologic Factors Phase 1
21
Acetaminophen Approved 103-90-2 1983
22
Ibuprofen Approved 15687-27-1 3672
23
Testosterone Approved, Investigational 58-22-0 5408 6013
24 Analgesics
25 Antirheumatic Agents
26 Antipyretics
27 Cyclooxygenase Inhibitors
28 Anti-Inflammatory Agents, Non-Steroidal
29 Anti-Inflammatory Agents
30 Analgesics, Non-Narcotic

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 A Phase IV Open, Randomized, Controlled Study to Evaluate the Safety and Immunogenicity of a Pediatric Presentation (0.25 ml) of the Virosomal Hepatitis A Virus (HAV) Vaccine HAVpur in Healthy Young Children Aged Between and Including 18 Months to 47 Months, Using a 0/6 Month Immunization Schedule Completed NCT01349829 Phase 4
2 A Phase 3, Randomized, Observer-Blind, Multicenter, Noninferiority Study to Evaluate Safety and Immunogenicity of a Cell-Based Quadrivalent Subunit Influenza Virus Vaccine (QIVc) and a United States Licensed Quadrivalent Influenza Virus Vaccine (QIV) in Healthy Subjects 6 Months Through 47 Months Completed NCT04074928 Phase 3
3 A Multicenter, Randomized, Controlled, Double-masked, Crossover Design Study to Compare Efficacy and Assess Safety of CD07805/47 Gel 0.5% Applied Once Daily vs Azelaic Acid Gel 15% Applied Twice Daily in Subjects With Erythema of Rosacea Completed NCT01659853 Phase 3 CD07805/47 gel 0.5%/CD07805/47 Vehicle;azelaic acid gel 15%
4 A Multicenter, Open-Label Study to Evaluate the Long-Term Safety and Efficacy of CD07805/47 Gel 0.5% Applied Topically Once Daily for up to 52 Weeks in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01318733 Phase 3 CD07805/47 gel 0.5%
5 Phase 3 Efficacy and Safety Study of CD07805/47 Topical Gel in Subjects With Facial Erythema of Rosacea Completed NCT01789775 Phase 3 Drug: CD07805/47 gel;CD07805/47 gel Placebo
6 A Multicenter, Randomized Double-Blind, Vehicle-Controlled, Parallel Group Study to Demonstrate the Efficacy and Safety of CD07805/47 Gel Applied Topically Once Daily in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01355471 Phase 3 CD07805/47 Gel;Placebo
7 A Multicenter, Randomized Double-Blind, Vehicle-Controlled, Parallel Group Study to Demonstrate the Efficacy and Safety of CD07805/47 Gel Applied Topically Once Daily in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01355458 Phase 3 CD07805/47 gel;Placebo
8 A Phase 3, Randomized, Observer-blind, Multicenter Study to Evaluate the Efficacy, Immunogenicity and Safety of Seqirus' Cell-Based Quadrivalent Subunit Influenza Virus Vaccine (QIVc) Compared to a Non-Influenza Vaccine When Administrated in Healthy Subjects Aged 6 Months Through 47 Months Recruiting NCT03932682 Phase 3
9 Phase 3 Efficacy and Safety Study of CD07805/47 Topical Gel in Subjects With Persistent Facial Erythema Withdrawn NCT01882712 Phase 3 CD07805/47 Gel 0.5%;CD07805/47 Gel Placebo
10 A 4-week, Randomized, Double-blind, Parallel-group, Vehicle-controlled, Multicenter Study Investigating the Efficacy and Safety of CD07805/47 Gel 0.5% Applied Topically Once Daily (QD), and CD07805/47 Gel 0.18% Applied Topically Once Daily (QD) or Twice Daily (BID), in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01174030 Phase 2 CD07805/47 Gel;Vehicle Gel
11 Effect of CD07805/47 Gel in Subjects Presenting With Flushing Related to Erythematotelangiectatic or Papulopustular Rosacea Completed NCT02300129 Phase 2 CD07805/47, CD07805/47+Placebo, Placebo, CD07805/47, Placebo;Placebo, CD07805/47+Placebo, CD07805/47, CD07805/47, Placebo;CD07805/47, CD07805/47+Placebo, Placebo, Placebo, CD07805/47;Placebo, CD07805/47+Placebo, CD07805/47, Placebo, CD07805/47
12 Randomized, Double-Blind, Parallel-Group, Vehicle-Controlled, Dose-Finding Study Investigating the Pharmacodynamics and Safety of Three Concentrations of CD07805/47 Topical Gel (0.07%, 0.18%, and 0.50%), Applied in Subjects With Moderate to Severe Erythematotelangiectatic Rosacea Completed NCT00989014 Phase 2 CD07805/47;CD07805/47 placebo
13 A Dbl-blind,Randomized,Controlled,Phase IIb Field Trial in 12-47 Month-old Children in Western Kenya to Eval the Efficacy,Safety and Immunogenicity of the FMP1/AS02A Malaria Vaccine vs Rabies Vaccine Completed NCT00223990 Phase 2
14 IntraCoronary Treatment With Integrilin To Improve ANgiographic Outcomes (IC TITAN - TIMI 47) Trial Terminated NCT00719914 Phase 2 eptifibatide;normal saline
15 A Phase II Study of CGC-11047 in Patients With Metastatic Hormone Refractory Prostate Cancer (47-02-001) Terminated NCT00585416 Phase 2 CGC-11047
16 A 47 Hour, Single Application, Occlusive Forearm Skin Patch Test to Assess, Under Dermatological Control, the Acute Cutaneous Tolerance of Project Storm on the Forearm of Adult Subjects With Dry/Atopic and Very Dry/Atopic Skin Completed NCT02620293 Phase 1
17 A Phase 1a Study Evaluating the Safety, Tolerability, and Initial Efficacy of Recombinant Human Anti-cluster Differentiation Antigen 47 (CD47) Monoclonal Antibody Injection (IBI188) in Patients With Advanced Malignant Tumors and Lymphomas Completed NCT03763149 Phase 1
18 A Phase 1 Study Evaluating the Safety, Tolerability, and Initial Efficacy of Recombinant Human Anti-cluster Differentiation Antigen 47 (CD47) Monoclonal Antibody Injection (IBI188) in Patients With Advanced Malignancies Completed NCT03717103 Phase 1 IBI188
19 Double-blind,Randomized,Controlled,Dose Escalation Phase 1 Trial in 12-47 Month Old Children in Western Kenya to Evaluate the Safety and Immunogenicity of WRAIR's MSP-1(FMP1) Malaria Vaccine Adjuvanted in GSK's AS02A Versus Rabies Vaccine. Completed NCT00317473 Phase 1
20 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
21 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
22 Comparison of Double Y-shaped Plates and Lag Screws in Fixation of Anterior Mandibular Fractures Completed NCT04396054
23 Cardiometabolic Profiles of Pubertal Boys With Klinefelter Syndrome With or Without One Year of Exogenous Testosterone Treatment Completed NCT02723305
24 Fertility Preservation in Cases of Spermatogenesis Failure : Prospective Study for Klinefelter Syndrome With Non-mosaic Karyotype (47, XXY, Homogeneous) Completed NCT01918280
25 Clinical Immunization Safety Assessment (CISA): A Study to Assess the Effect of Prophylactic Antipyretics on Immune Responses and Fever After 2014-2015 and 2015-2016 Inactivated Influenza Vaccine (IIV) Administered to Children 6 Through 47 Months of Age Completed NCT02212990
26 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562
27 Randomized Controlled Trial for the Effect of ODISEA 2.0 Video-feedback Intervention in Promoting Parenting Skills in Caregivers of Children Between 10 and 47 Months Not yet recruiting NCT04244318

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

Cochrane evidence based reviews: jacobs syndrome

Sources

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

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

# Genetic test Affiliating Genes
1 Double Y Syndrome 28
2 Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 28 PRG4
Sources

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

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

MalaCards : Bone, Skin, Prostate, Pituitary, Amygdala, Testis, Temporal Lobe
Sources

Publications for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

About this section

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

(show top 50) (show all 579)
# Title Authors PMID Year
1
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 53 62 57 5
10545950 1999
2
Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. 62 57 5
29397575 2018
3
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 62 57
11102929 2000
4
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. 62 57
9550484 1998
5
A syndrome of fibrosing pleuritis, pericarditis, and synovitis with infantile contractures of fingers and toes in 2 sisters: "familial fibrosing serositis". 62 57
8835575 1995
6
The camptodactyly-arthropathy-pericarditis syndrome: case report and literature review. 62 57
3964321 1986
7
Familial erosive arthritis associated with camptodactyly. 57
2360003 1990
8
A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. 57
3964320 1986
9
Congenital contractural deformities of the fingers and arthropathy. 57
4083939 1985
10
The pathology of the involved tendons in patients with familial arthropathy and congenital camptodactyly. 57
6870971 1983
11
A familial syndrome of pericarditis, arthritis, and camptodactyly. 57
6866038 1983
12
Familial arthritis and camptodactyly. 57
7306244 1981
13
Pathologic features of a familial arthropathy associated with congenital flexion contractures of fingers. 57
656159 1978
14
Needle biopsy of the synovium of children. 57
940709 1976
15
Novel PRG4 mutations underlie CACP in Saudi families. 53 62
16429407 2006
16
Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing. 53 62
16000300 2005
17
The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. 53 62
15719068 2005
18
Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 53 62
15702367 2005
19
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: The First Familial Case in China and Novel Mutations of the Proteoglycan 4 Gene. 62
36109080 2022
20
Recombinant lubricin improves anti-adhesive, wear protection, and lubrication of collagen II surface. 62
36252540 2022
21
A new incision in the correction of radial longitudinal deficiency: the double Y sliding flap approach. 62
36351555 2022
22
Assessing the value of second-trimester nasal bone hypoplasia in predicting chromosomal abnormalities: a retrospective chromosomal microarray analysis of 351 fetuses. 62
36269386 2022
23
Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility. 62
36452190 2022
24
600-GHz high-temperature superconducting sub-harmonic mixer coupled using a double-Y-type slot integrated lens antenna. 62
36258485 2022
25
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Variations for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

5 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRG4 NM_005807.6(PRG4):c.1194del (p.Thr399fs) DEL Pathogenic
 684664 rs748663740 GRCh37: 1:186276043-186276043
GRCh38: 1:186306911-186306911
2 PRG4, TPR NM_005807.6(PRG4):c.3917_3934del (p.Arg1306_Ser1311del) DEL Pathogenic
 684665 rs1571587012 GRCh37: 1:186281429-186281446
GRCh38: 1:186312297-186312314
3 PRG4 NM_005807.6(PRG4):c.3277_3278del (p.Lys1093fs) DEL Pathogenic
 684666 rs1258207620 GRCh37: 1:186278127-186278128
GRCh38: 1:186308995-186308996
4 PRG4, TPR NM_005807.6(PRG4):c.4101C>G (p.Tyr1367Ter) SNV Pathogenic
 684667 rs1388040598 GRCh37: 1:186282010-186282010
GRCh38: 1:186312878-186312878
5 PRG4 NM_005807.6(PRG4):c.2215A>T (p.Lys739Ter) SNV Pathogenic
 684668 rs776645239 GRCh37: 1:186277066-186277066
GRCh38: 1:186307934-186307934
6 PRG4 NM_005807.6(PRG4):c.1911del (p.Glu638fs) DEL Pathogenic
 684669 rs1571569884 GRCh37: 1:186276762-186276762
GRCh38: 1:186307630-186307630
7 PRG4 NM_005807.6(PRG4):c.2841_2842del (p.Lys947fs) DEL Pathogenic
 684671 rs1475926873 GRCh37: 1:186277688-186277689
GRCh38: 1:186308556-186308557
8 PRG4 NM_005807.6(PRG4):c.849del (p.Val284fs) DEL Pathogenic
 684672 rs1571563202 GRCh37: 1:186275700-186275700
GRCh38: 1:186306568-186306568
9 PRG4 NM_005807.6(PRG4):c.3139_3140del (p.Lys1047fs) DEL Pathogenic
 800914 rs1571575523 GRCh37: 1:186277989-186277990
GRCh38: 1:186308857-186308858
10 PRG4, TPR NM_005807.6(PRG4):c.4190_4191delinsAG (p.Ser1397Ter) INDEL Pathogenic
 5655 rs387906339 GRCh37: 1:186282885-186282886
GRCh38: 1:186313753-186313754
11 PRG4 NM_005807.6(PRG4):c.1320dup (p.Lys441fs) DUP Pathogenic
 987918 rs1557943002 GRCh37: 1:186276166-186276167
GRCh38: 1:186307034-186307035
12 PRG4, TPR NM_003292.3(TPR):c.*1130G>C SNV Pathogenic
 1323494 rs1657377652 GRCh37: 1:186281973-186281973
GRCh38: 1:186312841-186312841
13 PRG4 NM_005807.6(PRG4):c.3486dup (p.Val1163fs) DUP Pathogenic
 1323495 GRCh37: 1:186278988-186278989
GRCh38: 1:186309856-186309857
14 PRG4 NM_005807.6(PRG4):c.2894_2898del (p.Thr965fs) DEL Pathogenic
 1333348 GRCh37: 1:186277742-186277746
GRCh38: 1:186308610-186308614
15 PRG4 NM_005807.6(PRG4):c.301G>T (p.Glu101Ter) SNV Pathogenic
 1526151 GRCh37: 1:186270825-186270825
GRCh38: 1:186301693-186301693
16 PRG4 NM_005807.6(PRG4):c.1935del (p.Glu646fs) DEL Pathogenic
 1323496 GRCh37: 1:186276786-186276786
GRCh38: 1:186307654-186307654
17 PRG4 PRG4, 2-BP DEL, NT3023 DEL Pathogenic
 5653 GRCh37:
GRCh38:
18 PRG4 PRG4, IVS6, 41-BP INS INSERT Pathogenic
 5656 GRCh37:
GRCh38:
19 PRG4 NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer) MICROSAT Pathogenic
 992974 rs769917456 GRCh37: 1:186278091-186278097
GRCh38: 1:186308959-186308965
20 PRG4 NC_000001.10:g.(?_186265850)_(186266785_?)del DEL Pathogenic
 599362 GRCh37: 1:186265850-186266785
GRCh38:
21 PRG4 NM_005807.6(PRG4):c.2806_2810del (p.Lys936fs) DEL Pathogenic
 5651 GRCh37: 1:186277656-186277660
GRCh38: 1:186308524-186308528
22 PRG4 NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs) DEL Pathogenic
 684670 rs780281715 GRCh37: 1:186276761-186276762
GRCh38: 1:186307629-186307630
23 PRG4 NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) MICROSAT Pathogenic/Likely Pathogenic
 974887 rs769917456 GRCh37: 1:186278090-186278091
GRCh38: 1:186308958-186308959
24 PRG4 NM_005807.6(PRG4):c.3735_3736insAG (p.Ala1246fs) INSERT Likely Pathogenic
 976225 rs1657235121 GRCh37: 1:186280670-186280671
GRCh38: 1:186311538-186311539
25 PRG4 NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs) MICROSAT Likely Pathogenic
 973566 rs768053349 GRCh37: 1:186278961-186278964
GRCh38: 1:186309829-186309832
26 PRG4 NM_005807.6(PRG4):c.2247del (p.Ala750fs) DEL Likely Pathogenic
 974881 rs1656851989 GRCh37: 1:186277096-186277096
GRCh38: 1:186307964-186307964
27 PRG4 NM_005807.6(PRG4):c.962T>A (p.Leu321Ter) SNV Likely Pathogenic
 1695913 GRCh37: 1:186275813-186275813
GRCh38: 1:186306681-186306681
28 PRG4 NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter) DUP Likely Pathogenic
 801585 rs1406678014 GRCh37: 1:186280690-186280691
GRCh38: 1:186311558-186311559
29 PRG4 NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn) SNV Uncertain Significance
 1679878 GRCh37: 1:186280302-186280302
GRCh38: 1:186311170-186311170
30 PRG4 NM_005807.6(PRG4):c.538C>T (p.Arg180Trp) SNV Benign
 518309 rs2273779 GRCh37: 1:186273994-186273994
GRCh38: 1:186304862-186304862
31 PRG4 NM_005807.6(PRG4):c.3138A>G (p.Pro1046=) SNV Benign
 518311 rs3737940 GRCh37: 1:186277989-186277989
GRCh38: 1:186308857-186308857
32 PRG4 NM_005807.6(PRG4):c.1737T>C (p.Thr579=) SNV Benign
 518310 rs778925933 GRCh37: 1:186276588-186276588
GRCh38: 1:186307456-186307456
33 PRG4 NM_005807.6(PRG4):c.-30-30T>A SNV Benign
 1327442 GRCh37: 1:186265948-186265948
GRCh38: 1:186296816-186296816
34 PRG4 NM_005807.6(PRG4):c.1810A>G (p.Thr604Ala) SNV Benign
 1327443 GRCh37: 1:186276661-186276661
GRCh38: 1:186307529-186307529
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Expression for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Cardiac conduction 66
Show member pathways
 12.23 TPM3 TPM2 TNNT3 TNNI2 TNNI1 NEB
2
Striated muscle contraction pathway 74
Show member pathways
 11.04 TPM3 TPM2 TNNT3 TNNI2 TNNI1 NEB
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GO Terms for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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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 cytoskeleton GO:0015629 9.85 TPM3 TPM2 NEB CFL2 ACTA1
2 muscle thin filament tropomyosin GO:0005862 9.26 TPM3 TPM2
3 troponin complex GO:0005861 9.1 TNNT3 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 9.7 TPM3 TPM2 KBTBD13 CFL2
2 regulation of ATP-dependent activity GO:0043462 9.62 TPM2 TNNT3
3 regulation of striated muscle contraction GO:0006942 9.56 TNNT3 TNNI1
4 regulation of muscle contraction GO:0006937 9.54 TNNT3 TNNI2
5 skeletal muscle contraction GO:0003009 9.43 TNNT3 TNNI2 TNNI1
6 muscle contraction GO:0006936 9.4 TPM3 TPM2 TNNT3 TNNI2 TNNI1 ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.65 TPM3 TPM2 NEB KBTBD13 CFL2
2 polysaccharide binding GO:0030247 9.46 VTN PRG4
3 actin binding GO:0003779 9.36 TPM3 TPM2 TNNT3 TNNI2 TNNI1 NEB
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Sources for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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