Disease #03902 (EDSSPD2 (Ehlers-Danlos, spondylodysplastic syndrome, type 2 (EDSSPD2)), OMIM:615349)

Official abbreviation	EDSSPD2
Name	Ehlers-Danlos, spondylodysplastic syndrome, type 2 (EDSSPD2)
OMIM ID	615349
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	17
Phenotype entries for this disease	-
Associated with 1 gene	B3GALT6
Associated tissues	-
Disease features	-
Remarks	-
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
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
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Andorra
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Angola
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Anguilla
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Bouvet Island
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Brazil
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British Indian Ocean Territory
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Brunei Darussalam
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Bulgaria
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Burkina Faso
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Burundi
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Cambodia
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Cameroon
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Canada
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Cape Verde
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Cayman Islands
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Central African Republic
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Central Europe
Chad
(Chad)
Chile
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China
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Christmas Island
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Cocos (Keeling Islands)
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Colombia
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Comoros
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Congo
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Cook Islands
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Costa Rica
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Cote D'Ivoire (Ivory Coast)
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Croatia (Hrvatska)
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Cuba
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Georgia
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Germany
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Guinea
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Guyana
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Jordan
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Kenya
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Kiribati
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Korea
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Korea, North (People's Republic)
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Latvia
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Romania
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Russian Federation
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San Marino
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Scotland
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Senegal
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Serbia
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Singapore
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Cunha
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Cunha)
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Sweden
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Syria
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Tanzania
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Thailand
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Togo
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Tokelau
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Tonga
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Trinidad and Tobago
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Tunisia
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Turkey
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Turkmenistan
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Turks and Caicos Islands
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Tuvalu
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Uganda
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Ukraine
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United Arab Emirates
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United Kingdom (Great Britain)
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United States
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Uruguay
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US Minor Outlying Islands
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Vanuatu
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Virgin Islands (British)
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Virgin Islands (US)
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Wales
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Wallis and Futuna Islands
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Western Sahara
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Yemen
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Yugoslavia
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Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

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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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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!	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
>=	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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<	Numeric	<23	all entries lower than 23
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Example	Matches
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17 entries on 1 page. Showing entries 1 - 17.

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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
00318136	-	PubMed: Van Damme et al., 2018	-	-	-	India	Indian	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Sofie Symoens
00318139	-	PubMed: Van Damme et al., 2018	The technique used was the custom NGS Gene panel.	-	-	France	French	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Sofie Symoens
00318140	-	PubMed: Van Damme et al., 2018	A non-consanguineous couple of Caucasian origin had two pregnancies terminated because of severe skeletal dysplasia. The second pregnancy was assigned the Patient ID AN_005849.The technique used was whole exome sequencing.	-	-	Netherlands	Dutch	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Sofie Symoens
00318141	-	PubMed: Van Damme et al., 2018	This patient (PIV:1) has two affected siblings with IDs AN_005842 and AN_005843.	-	-	Congo;Rwanda	Congolese-Rwandan	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Sofie Symoens
00318150	P3	PubMed: Malfait et al., 2013	Has a younger sister, P4, of the same genotype	-	-	Iran	-	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Raymond Dalgleish
00318152	-	PubMed: Van Damme et al., 2018	-	-	-	Netherlands	Dutch	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Sofie Symoens
00318153	-	PubMed: Sellars et al., 2014	The authors have confirmed the transcript-level sequence variants that cause the amino acid substitutions.The technique used was whole exome sequencing.	-	-	-	-	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Raymond Dalgleish
00318154	-	PubMed: Van Damme et al., 2018	-	-	-	Netherlands	Dutch	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Sofie Symoens
00318156	-	PubMed: Van Damme et al., 2018	The technique used was the custom NGS Gene panel.	-	-	United States	USA	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Sofie Symoens
00318157	Family 9	PubMed: Alazami et al., 2016	The formal ID for this family is 12DG2007.The technique used was whole exome sequencing.	-	-	-	-	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	1	1	Raymond Dalgleish
00318158	-	PubMed: Van Damme et al., 2018	-	-	-	Iran	Iranian	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	1	1	Sofie Symoens
00318159	Family 6	PubMed: Alazami et al., 2016	The proband has an affected cousin.The formal ID for this family is 12DG0715.The technique used was whole exome sequencing.	-	-	-	-	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	1	1	Raymond Dalgleish
00318160	Family 7	PubMed: Alazami et al., 2016	There are two affected individuals in this family.The formal ID for this family is 12DG1291.The technique used was whole genome sequencing.	-	-	-	-	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	1	1	Raymond Dalgleish
00318161	Family 8	PubMed: Alazami et al., 2016	The formal ID for this family is 12DG2397.The technique used was whole genome sequencing.	-	-	-	-	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	1	1	Raymond Dalgleish
00318164	P1	PubMed: Malfait et al., 2013	P1 has a maternal cousin, P2, of the same genotype	-	-	Iran	-	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	1	1	Raymond Dalgleish
00318165	P5	PubMed: Malfait et al., 2013	-	-	-	Iran	-	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	1	1	Raymond Dalgleish
00318167	-	PubMed: Van Damme et al., 2018	The technique used was whole exome sequencing.	-	-	United States	USA	-	-	-	-	EDS, EDSSPD2	-	B3GALT6	B3GALT6	2	1	Sofie Symoens

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