Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CACP MCID: CMP012 MIFTS: 45	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP) Categories: Bone diseases, Genetic diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare systemic and rhumatological diseases

External Ids:

Disease Ontology ¹² DOID:0090127

OMIM® ⁵⁷ 208250

KEGG ³⁶ H00526

MeSH ⁴⁴ C537560 D001177 D006228 more

SNOMED-CT ⁶⁷ 771187008

UMLS via Orphanet ⁷¹ C1859690

Orphanet ⁵⁸ ORPHA2848

MedGen ⁴¹ C1859690

SNOMED-CT via HPO ⁶⁸ 202275008 240206002 258211005 more

EFO ¹⁷ EFO_0009028

UMLS ⁷⁰ C1859690 C1864186

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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...

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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:

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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 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

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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

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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

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

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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	Marcelino J...Warman ML	10545950	1999
2	Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. ⁶¹ ⁵⁷ ⁶	Yilmaz S...Tuysuz B	29397575	2018
3	Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ⁶¹ ⁵⁷	Faivre L...Cormier-Daire V	11102929	2000
4	The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. ⁵⁷ ⁶¹	Bahabri SA...Warman ML	9550484	1998
5	Total hip arthroplasty in adolescents with severe hip arthropathy and dysplasia associated with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ⁶¹ ²⁰	Murphy JM...Urquhart AG	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	Verma UN...Singh RR	8835575	1995
7	Familial erosive arthritis associated with camptodactyly. ⁵⁷	Gigante MC...Giacomello A	2360003	1990
8	The camptodactyly-arthropathy-pericarditis syndrome: case report and literature review. ⁵⁷	Laxer RM...Stein LD	3964321	1986
9	A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. ⁵⁷	Bulutlar G...Schreuder I	3964320	1986
10	Congenital contractural deformities of the fingers and arthropathy. ⁵⁷	Martin JR...Lawton LJ	4083939	1985
11	A familial syndrome of pericarditis, arthritis, and camptodactyly. ⁵⁷	Martinez-Lavin M...Salinas L	6866038	1983
12	The pathology of the involved tendons in patients with familial arthropathy and congenital camptodactyly. ⁵⁷	Ochi T...Ono K	6870971	1983
13	Familial arthritis and camptodactyly. ⁵⁷	Malleson P...Pagon RA	7306244	1981
14	Pathologic features of a familial arthropathy associated with congenital flexion contractures of fingers. ⁵⁷	Athreya BH...Schumacher HR	656159	1978
15	Needle biopsy of the synovium of children. ⁵⁷	Jacobs JC...Johnston AD	940709	1976
16	Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: a mimicker of juvenile idiopathic arthritis. ²⁰	Madhusudan S...Singh S	26508154	2016
17	CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort. ²⁰	Ciullini Mannurita S...Gambineri E	23756439	2014
18	Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing. ⁵⁴ ⁶¹	Rhee DK...Warman ML	16000300	2005
19	The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. ⁶¹ ⁵⁴	Rhee DK...Carpten JD	15719068	2005
20	Synovial pathology in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ⁵⁴ ⁶¹	Shayan K...Thorner PS	15702367	2005
21	Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome. ⁶¹	Johnson N...Vignesh P	32813152	2020
22	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome with Shoulder Joint Involvement: A Case Report with Literature Review. ⁶¹	Albtoush OM...Mahafza WS	29156476	2018
23	The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. ⁶¹	Al-Mayouf SM...Alismail K	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	Ai M...Warman ML	25642942	2015
25	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: important differential for juvenile idiopathic arthritis. ⁶¹	Kakkar RM...Desai SB	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	Akawi NA...Al-Gazali L	22678705	2012
27	[Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis syndrome: a case report]. ⁶¹	Li XL...Fu SM	21924065	2011
28	Lubricin: a novel potential biotherapeutic approaches for the treatment of osteoarthritis. ⁶¹	Bao JP...Wu LD	20099082	2011
29	A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family. ⁶¹	Basit S...Ahmad W	21565623	2011
30	Molecular signatures and new candidates to target the pathogenesis of rheumatoid arthritis. ⁶¹	Ungethuem U...Blass S	20858714	2010
31	Novel PRG4 mutations underlie CACP in Saudi families. ⁵⁴	Alazami AM...Meyer B	16429407	2006
32	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. ⁶¹	Offiah AC...Hall CM	16037531	2005
33	Camptodactyly, arthropathy, coxa vara, pericarditis (CACP)syndrome: a case report. ⁶¹	Choi BR...Yoo DH	15608409	2004

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Genes for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Genes related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (2 elite genes):

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PRG4	Proteoglycan 4	Protein Coding	1449.94	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	10545950 15702367 15719068 (more) 16000300 16429407
2	TPR	Translocated Promoter Region, Nuclear Basket Protein	Protein Coding	418.59	Pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	10545950
3	VTN	Vitronectin	Protein Coding	13.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	AZU1	Azurocidin 1	Protein Coding	8.12	GeneCards inferred via : Publications (show sections)
5	TPM2	Tropomyosin 2	Protein Coding	7.7	DISEASES inferred ¹⁵
6	TPM3	Tropomyosin 3	Protein Coding	6.6	DISEASES inferred ¹⁵
7	SLC25A29	Solute Carrier Family 25 Member 29	Protein Coding	6.1	DISEASES inferred ¹⁵
8	NEB	Nebulin	Protein Coding	5.99	DISEASES inferred ¹⁵
9	TNNT3	Troponin T3, Fast Skeletal Type	Protein Coding	5.97	DISEASES inferred ¹⁵
10	TNNI2	Troponin I2, Fast Skeletal Type	Protein Coding	5.97	DISEASES inferred ¹⁵
11	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	5.84	DISEASES inferred ¹⁵
12	CINP	Cyclin Dependent Kinase 2 Interacting Protein	Protein Coding	5.77	DISEASES inferred ¹⁵
13	ACAN	Aggrecan	Protein Coding	5.61	DISEASES inferred ¹⁵
14	CFL2	Cofilin 2	Protein Coding	5.57	DISEASES inferred ¹⁵
15	TNNI1	Troponin I1, Slow Skeletal Type	Protein Coding	5.49	DISEASES inferred ¹⁵
16	TNNT1	Troponin T1, Slow Skeletal Type	Protein Coding	5.36	DISEASES inferred ¹⁵
17	RFESD	Rieske Fe-S Domain Containing	Protein Coding	5.29	DISEASES inferred ¹⁵
18	SELENON	Selenoprotein N	Protein Coding	5.28	DISEASES inferred ¹⁵
19	CAAP1	Caspase Activity And Apoptosis Inhibitor 1	Protein Coding	5.13	DISEASES inferred ¹⁵
20	CLASP2	Cytoplasmic Linker Associated Protein 2	Protein Coding	5.08	DISEASES inferred ¹⁵
21	ECI2	Enoyl-CoA Delta Isomerase 2	Protein Coding	5.02	DISEASES inferred ¹⁵
22	HPX	Hemopexin	Protein Coding	4.99	DISEASES inferred ¹⁵
23	CFL1	Cofilin 1	Protein Coding	4.99	DISEASES inferred ¹⁵
24	FMOD	Fibromodulin	Protein Coding	4.99	DISEASES inferred ¹⁵

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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

Sources

Expression for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

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

#	Super pathways	Score	Top Affiliating Genes
1	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.23	TPM3 TPM2 TNNT3 TNNT1 TNNI2 TNNI1
2	Striated Muscle Contraction ⁶⁵ ¹	11.08	TPM3 TPM2 TNNT3 TNNT1 TNNI2 TNNI1

Sources

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

Sources for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

¹ BioSystems

² BitterDB

³ CDC

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²⁰ GARD

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²⁴ GeneHancer via GeneCards

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²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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

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

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

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

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

Interventional clinical trials:

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:

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:

Genes for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Genes related to Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (2 elite genes):

Variations for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

Expression for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Pathways for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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

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:

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

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

Sources for Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome