LOEYS-DIETZ SYNDROME, TYPE 2A

General Information (adopted from Orphanet):

Synonyms, Signs: AORTIC ANEURYSM, FAMILIAL THORACIC 5
AAT5
LDS2A
Number of Symptoms 22
OrphanetNr:
OMIM Id: 608967
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000193) Bifid uvula 66 / 7739
2
(HPO:0001388) Joint laxity 117 / 7739
3
(HPO:0005692) Joint hyperflexibility 20 / 7739
4
(HPO:0001382) Joint hypermobility 231 / 7739
5
(HPO:0000023) Inguinal hernia 181 / 7739
6
(HPO:0000977) Soft skin 23 / 7739
7
(HPO:0000978) Bruising susceptibility 123 / 7739
8
(HPO:0000973) Cutis laxa 43 / 7739
9
(HPO:0010648) Dermal translucency 6 / 7739
10
(HPO:0001075) Atrophic scars 15 / 7739
11
(HPO:0008067) Abnormally lax or hyperextensible skin 3 / 7739
12
(HPO:0000974) Hyperextensible skin 59 / 7739
13
(HPO:0004933) Ascending aortic dissection 6 / 7739
14
(HPO:0002631) Ascending aortic aneurysm 9 / 7739
15
(HPO:0004955) Generalized arterial tortuosity 7 / 7739
16
(OMIM) Uterine hemorrhage 2 / 7739
17
(OMIM) Erdheim cystic medial necrosis 1 / 7739
18
(OMIM) Vascular rupture during pregnancy 2 / 7739
19
(OMIM) Bowel rupture (some) 1 / 7739
20
(OMIM) Deposition of mucopolysaccharide-like material in the media 1 / 7739
21
(OMIM) Arterial aneurysm and/or dissection (abdominal aorta, carotid, and coronary arteries) 1 / 7739
22
(OMIM) Loss of elastic fibers of aortic wall 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nicod et al. (1989) described a family in which 9 members over 2 generations had aortic dissecting aneurysm or aortic or arterial dilatation at a young age. Three died of ruptured aortic dissecting aneurysms at ages 14, 18, ...
Genotype-Phenotype Correlations OMIM Tran-Fadulu et al. (2009) analyzed the TGFBR1 gene in 150 unrelated families with thoracic aortic aneurysm (AAT) and identified heterozygous missense mutations in 4 families, including a 4-generation family originally described by Nicod et al. (1989) (190181.0007). Tran-Fadulu ...
Molecular genetics OMIM In 4 patients with LDS2, Loeys et al. (2006) detected heterozygosity for 4 different missense mutations in the TGFBR1 gene. Three of these involved the same codon and occurred at the same codon, arg487 at the C-terminal end ...