Loeys-Dietz Syndrome Mutation Database
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View disease #00003
Official abbreviation
LDS4
Name
Loeys-Dietz syndrome, type 4
OMIM ID
614816
Individuals reported having this disease
73
Phenotype entries for this disease
128
Associated with 1 gene
TGFB2
Individuals
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
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?
73 entries on 1 page. Showing entries 1 - 73.
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Legend
Individual ID
Reference
Gender
Ethnic origin
Age of death
Cause of death
Remarks
Disease
Genes screened
Variants in genes
Variants
Panel size
Owner
00000004
Renard et al. (2013)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000016
Renard et al. (2013)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000322
-
M
Caucasian
-
-
-
LDS4
TGFB2
TGFB2
1
1
Raya Al Maskari
00000486
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000487
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000488
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000489
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000490
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000491
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000492
-
-
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000493
-
-
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000494
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000495
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000496
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000497
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000498
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000499
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000500
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000501
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000502
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000503
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000504
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000505
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000506
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000507
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000508
-
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000509
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000510
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000511
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000512
Gago-Diaz et al (2014)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000513
Ritelli et al (2014)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000514
Ritelli et al (2014)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000515
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000516
Lindsay et al (2011)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000517
Lindsay et al (2011)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000518
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000519
Lindsay et al (2011)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000520
Lindsay et al (2011)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000521
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000522
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000523
Lindsay et al (2011)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000524
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000525
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000526
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000527
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000528
Campens et al (2015)
-
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000529
Campens et al (2015)
-
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000530
Campens et al (2015)
-
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000531
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000532
-
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000533
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000534
Lindsay et al (2011)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000535
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000536
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000537
Lindsay et al (2011)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000538
Lindsay et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000539
Boileau et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000540
Boileau et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000541
Boileau et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000542
Boileau et al (2011)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000543
Renard et al (2013)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000544
Renard et al (2013)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000545
Renard et al (2013)
F
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000546
Renard et al (2013)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000547
Renard et al (2013)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000548
Renard et al (2013)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000549
Fontana et al (2014)
-
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000550
Leutermann et al (2014)
M
-
-
-
-
LDS4
TGFB2
TGFB2
1
1
Giada Tortora
00000625
-
F
-
-
-
-
LDS4
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
TGFB2
1
1
Alessandra Maugeri
00000626
-
M
-
-
-
-
LDS4
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
TGFB2
1
1
Alessandra Maugeri
00000627
-
M
-
-
-
-
LDS4
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
TGFB2
1
1
Alessandra Maugeri
00000628
-
M
-
-
-
In this patient, also a variant of uncertain significance in FBN1 has been found
LDS4
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
TGFB2
1
1
Alessandra Maugeri
00000629
-
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).
LDS4
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
TGFB2
1
1
Alessandra Maugeri
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