Marfan syndrome type 2

General Information (adopted from Orphanet):

Synonyms, Signs: MARFAN SYNDROME, TYPE II, FORMERLY
AORTIC ANEURYSM, FAMILIAL THORACIC 3
MFS2
AAT3
LDS2B
Loeys-Dietz syndrome type 2
Number of Symptoms 16
OrphanetNr: 284973
OMIM Id: 610380
ICD-10: Q87.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Marfan syndrome
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare surgical thoracic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
(HPO:0100718) Uterine rupture 3 / 7739
2
(HPO:0000193) Bifid uvula rare [HPO:skoehler] 66 / 7739
3
(HPO:0001388) Joint laxity 117 / 7739
4
(HPO:0012223) Splenic rupture 6 / 7739
5
(HPO:0000023) Inguinal hernia 181 / 7739
6
(HPO:0000974) Hyperextensible skin rare [HPO:skoehler] 59 / 7739
7
(HPO:0010648) Dermal translucency 6 / 7739
8
(HPO:0000978) Bruising susceptibility 123 / 7739
9
(HPO:0000977) Soft skin 23 / 7739
10
(HPO:0001075) Atrophic scars 15 / 7739
11
(HPO:0004955) Generalized arterial tortuosity 7 / 7739
12
(HPO:0002631) Ascending aortic aneurysm 9 / 7739
13
(HPO:0004933) Ascending aortic dissection 6 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(OMIM) Other arterial aneurysm and/or dissection (descending aorta, cerebral, intracranial, carotid, and renal arteries) 1 / 7739
16
(OMIM) Vascular rupture during pregnancy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Boileau et al. (1990) described a large French family in which multiple members in an autosomal dominant pedigree pattern exhibited some of the skeletal and cardiovascular features of the Marfan syndrome (154700) but lacked ocular abnormalities. Boileau et ...
Genotype-Phenotype Correlations OMIM Tran-Fadulu et al. (2009) compared the clinical features of 30 affected individuals from 4 TAAD families with TGFBR1 mutations to those of 77 patients from 4 families previously reported with mutations in the TGFBR2 gene (Pannu et al., ...
Molecular genetics OMIM Identification of a 3p24.1 chromosomal breakpoint disrupting the gene encoding TGF-beta receptor-2 (TGFBR2; 190182) in a Japanese individual with a diagnosis of Marfan syndrome led Mizuguchi et al. (2004) to consider TGFBR2 as the gene underlying the phenotype ...