Disease #00865 (CACP (camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP)), OMIM:208250)

Official abbreviation	CACP
Name	camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP)
OMIM ID	208250
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	12
Phenotype entries for this disease	11
Associated with 1 gene	PRG4
Associated tissues	-
Disease features	congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia, in some patients progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions
Remarks	autosomal recessive
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
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? (unknown)
- (not applicable)
Afghanistan
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Albania
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Bulgaria
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Cunha
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Tunisia
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Turkey
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Ukraine
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Yemen
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Yugoslavia
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Zaire
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Zambia
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Zimbabwe
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Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
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combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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12 entries on 1 page. Showing entries 1 - 12.

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How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00106541	-	-	-	-	-	-	-	-	-	-	-	CACP	-	PRG4	PRG4	1	1	Saliha Yilmaz
00106542	-	-	-	-	-	-	-	-	-	-	-	CACP	-	PRG4	PRG4	1	1	Saliha Yilmaz
00106544	-	-	-	-	yes	-	-	-	-	-	-	CACP	-	-	PRG4	1	1	Saliha Yilmaz
00106545	-	-	-	F	yes	-	-	-	-	-	-	CACP	-	PRG4	PRG4	1	2	Saliha Yilmaz
00106546	-	-	-	F	yes	-	-	-	-	-	-	CACP	-	PRG4	PRG4	1	1	Saliha Yilmaz
00106547	-	-	-	-	-	-	-	-	-	-	-	CACP	-	PRG4	PRG4	2	2	Saliha Yilmaz
00106548	-	-	-	M	yes	-	-	-	-	-	-	CACP	-	PRG4	PRG4	1	1	Saliha Yilmaz
00106549	-	-	-	M	-	-	-	-	-	-	-	CACP	-	PRG4	PRG4	1	1	Saliha Yilmaz
00106550	-	-	-	-	yes	-	-	-	-	-	-	CACP	-	PRG4	PRG4	1	1	Saliha Yilmaz
00106551	-	-	-	?	-	-	-	-	-	-	-	CACP	-	PRG4	PRG4	1	3	Saliha Yilmaz
00106552	-	-	-	M	yes	-	-	-	-	-	-	CACP	-	PRG4	PRG4	2	1	Saliha Yilmaz
00472227	-	Verebi et al. (submitted)	-	M	-	France	-	-	-	-	-	CACP	Arthrogryposis multiplex congenita	-	PRG4	2	1	Camille Verebi

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