Disease #06174 (EDSPD2 (Ehlers-Danlos syndrome, periodontal type, 2), OMIM:617174)

Official abbreviation	EDSPD2
Name	Ehlers-Danlos syndrome, periodontal type, 2
OMIM ID	617174
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	13
Phenotype entries for this disease	12
Associated with 1 gene	C1S
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	N/A

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)
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Cunha
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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
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
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Example	Matches
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13 entries on 1 page. Showing entries 1 - 13.

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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
00435001	IV-2	PubMed: Stock et al., 2021	German family with classical EDS was investigated. Physical and genetic examination of two affected and three unaffected family members revealed a family diagnosis of cEDS with a heterozygous mutation in COL5A1. An additional diagnosis of periodontal EDS was suspected and genetic analysis revealed a novel missense mutation in C1R in a heterozygous state.	F	no	Germany	-	-	-	-	-	EDSCL1, EDSPD2	Bilateral club feet, bilateral pes adductus, central coordination disturbance, and asymmetry of posture and tonus were noted and retrospectively attributed to joint hypermobility. Hypermobility of the ankles as a baby, recurring luxation of the patella and chronic joint pain at the age of four years, bluish discolorations on her shins and forearms, skin was very soft and hyperelastic; multiple subcutaneous papules and few atrophic scars., Premature loss of two lower incisors at four years of age, primary dentition with missing teeth 71 and 81. Gingival inflammation and probing pocket depths ≤3 mm. Furcation involvement grade III was diagnosed for deciduous molars 54, 64, 74, and 84. Lack of attached gingiva and severe gingival recession up to 6 mm was found for all primary teeth except the lower second molars.	C1R, COL5A1	C1R, COL5A1	2	1	Nassim Louail
00435003	-	Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	1	Chloe Angwin
00435006	-	PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	4	Chloe Angwin
00435014	-	Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	1	Chloe Angwin
00435016	-	PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	2	Chloe Angwin
00435019	-	Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	1	Chloe Angwin
00435020	-	PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	1	Chloe Angwin
00435022	-	Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	1	Chloe Angwin
00435023	-	Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	1	Chloe Angwin
00435024	-	PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	2	Chloe Angwin
00435025	-	Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	2	Chloe Angwin
00435037	-	PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	2	Chloe Angwin
00435039	-	Journal: Angwin 2023	-	-	-	-	-	-	-	-	-	EDSPD2	-	C1R, C1S	C1R	1	2	Chloe Angwin

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Global Variome shared LOVD

SPTB (spectrin, beta, erythrocytic)