AORTIC ANEURYSM, FAMILIAL THORACIC 4

General Information (adopted from Orphanet):

Synonyms, Signs: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS
FAA4
AAT4
Number of Symptoms 20
OrphanetNr:
OMIM Id: 132900
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:0008034) Abnormal iris pigmentation 3 / 7739
2
(HPO:0002140) Ischemic stroke 70 / 7739
3
(HPO:0001297) Stroke 44 / 7739
4
(HPO:0012180) Cystic medial necrosis 2 / 7739
5
(HPO:0004942) Aortic aneurysm 10 / 7739
6
(HPO:0001643) Patent ductus arteriosus 228 / 7739
7
(HPO:0001677) Coronary artery disease 58 / 7739
8
(HPO:0001659) Aortic regurgitation 36 / 7739
9
(HPO:0002622) Dissecting aortic aneurysm 3 / 7739
10
(HPO:0001647) Bicuspid aortic valve 34 / 7739
11
(HPO:0001724) Aortic dilatation 24 / 7739
12
(HPO:0011648) Patent ductus arteriosus after birth at term 18 / 7739
13
(OMIM) Aneurysm, ascending aorta 1 / 7739
14
(OMIM) Carotid aneurysm, intracranial (in some patients) 1 / 7739
15
(OMIM) Dissection, ascending aorta (in some patients) 1 / 7739
16
(OMIM) Aneurysm, descending aorta (in some patients) 1 / 7739
17
(MedDRA:10024119) Left ventricular failure 2 / 7739
18
(MedDRA:10024120) Left ventricular failures 1 / 7739
19
(OMIM) Dissection, descending aorta (in some patients) 1 / 7739
20
(OMIM) Peripheral vascular occlusive disease (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Glancy et al. (2001) reported 3 generations of a family in which 5 members had aortic dissection and/or patent ductus arteriosus (PDA; 607411). The proband underwent repair of a symptomatic dissecting aortic aneurysm extending from the aortic valve ...
Molecular genetics OMIM One of the genes in the critical linkage region on chromosome 16p identified by Khau Van Kien et al. (2004) is MYH11 (160745), which encodes the smooth muscle myosin heavy chain, a major specific contractile protein produced in ...