View disease #00002

Official abbreviation	LDS3
Name	Loeys-Dietz syndrome, type 3
OMIM ID	613795
Individuals reported having this disease	95
Phenotype entries for this disease	85
Associated with 1 gene	SMAD3

Individuals

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Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Gender: The gender of the reported individual.
All options:

? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Age of death: The age at which the individual deceased, if known and applicable.

35y = 35 years
04y08m = 4 years and 8 months
18y? = around 18 years
>54y = still alive at 55
? = unknown

Cause of death: The cause of the individual's death, if known and applicable.

Remarks: Remarks about the individual.

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

Panel size: How many individuals does this entry represent?

95 entries on 1 page. Showing entries 1 - 95.

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Individual ID	Reference	Gender	Ethnic origin	Age of death	Cause of death	Remarks	Disease	Genes screened	Variants in genes	Variants	Panel size	Owner
00000001	Wischmeijer et al (2013)	M	Caucasian	-	-	-	LDS3	SMAD3	SMAD3	1	8	Giada Tortora
00000012	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000013	Wischmeijer et al (2013)	M	Caucasian	-	-	-	LDS3	SMAD3	SMAD3	1	8	Giada Tortora
00000017	Wischmeijer et al (2013)	F	Caucasian	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000018	Wischmeijer et al (2013)	M	Caucasian	-	-	-	LDS3	SMAD3	SMAD3	1	1	Bart Loeys
00000344	Wooderchak-Donahue et al. (2015)	F	-	-	-	case 166	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000345	Wooderchak-Donahue et al. (2015)	M	-	-	-	case 65	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000360	Poninska et al. (2016)	M	-	47y	complications of dissected abdominal aorta	Family TAAD045. Mother died at 46y and brother at 26y of TAAD	LDS3	SMAD3	SMAD3	1	2	Giada Tortora
00000361	Poninska et al. (2016)	M	-	-	-	Son, family TAAD045	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000365	Luo at al. (2016)	M	-	-	-	Patient number 76. Family history of sudden death in his father and uncle before 40y	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000371	Luo at al. (2016)	M	-	-	-	Patient number 324	LDS3	SMAD3	SMAD3	1	2	Giada Tortora
00000372	Luo at al. (2016)	M	-	-	-	Father of patient 324	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000411	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000412	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000413	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000414	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000415	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000416	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000417	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000418	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000419	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000420	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000421	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000422	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000423	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000424	-	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000425	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000426	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000427	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000428	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000429	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000430	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000431	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000432	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000433	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000434	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000435	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000436	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000437	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000438	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000439	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000440	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000441	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000442	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000443	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000444	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000445	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000446	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000447	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000448	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000449	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000450	Hilhorst-Hofstee et al (2013)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000451	Berthet et al (2015)	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000452	Campens et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000453	Campens et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000454	Campens et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000455	Campens et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000456	Campens et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000457	Campens et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000458	Campens et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000459	Proost et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000460	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000461	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000462	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000463	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000464	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000465	-	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000466	Van de Laar et al (2012)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000467	Van de Laar et al (2012)	M	-	-	Aortic dissection	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000468	Van de Laar et al (2012)	M	-	54y	Aortic dissection	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000469	Van de Laar et al (2012)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000470	Van de Laar et al (2012)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000471	Van de Laar et al (2012)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000472	Van de Laar et al (2012)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000473	Van de Laar et al (2011)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000474	Van de Laar et al (2011)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000475	Van de Laar et al (2011)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000476	Martens et al (2013)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000477	Fitzgerald et al (2014)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000478	Zhang et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000479	Blinc et al (2015)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000480	Haller et al (2015)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000481	Haller et al (2015)	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000482	Courtois et al (2017)	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000483	Garcia-Bermudez et al (2017)	-	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000484	Nevidomskyte et al (2017)	F	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000485	-	M	-	-	-	-	LDS3	SMAD3	SMAD3	1	1	Giada Tortora
00000617	-	F	-	-	-	-	LDS3	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	SMAD3	1	1	Alessandra Maugeri
00000618	-	M	-	-	-	-	LDS3	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	SMAD3	1	1	Alessandra Maugeri
00000619	-	F	-	-	-	-	LDS3	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	SMAD3	1	1	Alessandra Maugeri
00000620	-	F	-	-	-	-	LDS3	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	SMAD3	1	1	Alessandra Maugeri
00000621	-	M	-	-	-	-	LDS3	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	SMAD3	1	1	Alessandra Maugeri
00000630	-	F	-	-	-	-	LDS3	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	SMAD3	1	1	Alessandra Maugeri
00000631	-	F	-	-	-	-	LDS3	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	SMAD3	1	1	Alessandra Maugeri
00000632	-	M	-	-	-	The deletion identified in this patient was detected by CNV- detection on NGS data, using the bioinformatic tool XHMM. This deletion was successively confirmed by MLPA analysis (home-made test).	LDS3	SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2	SMAD3	1	1	Alessandra Maugeri

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