| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (21.2%) |
29444731 |
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation. Arroyave J, Carretero JM, Gruosso D. Cardiol Young. 2018;28(5):765-767. |
| Osteoarthritis | ||
| Aneurysm, Dissecting Aorta Aortic Aneurysm, Thoracic Child DNA DNA Mutational Analysis Echocardiography Homo sapiens Magnetic Resonance Imaging, Cine Male Mutation Phenotype Smad3 Protein | ||
| 1 (21.2%) |
26221609 (4499615) |
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome. Zhang W, Zhou M, Liu C, Liu C, Qiao T, Huang D, Ran F, Wang W, Liu C, Liu Z. Biomed Res Int. 2015;2015:968135. |
| Osteoarthritis | ||
| SMAD3 | ||
| c|SUB|G|266|A p|SUB|C|89|Y | ||
| Aneurysm China Genetic Association Studies Homo sapiens Mutation Smad3 Protein | ||
| 1 (21.2%) |
23693005 |
[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?]. van der Linde D, van de Laar I, Moelker A, Wessels MW, Bertoli-Avella AM, Roos-Hesselink JW. Ned Tijdschr Geneeskd. 2013;157(21):A5588. |
| Mitral valve prolapse Osteoarthritis | ||
| SMAD3 | ||
| Adult Aneurysm Cardiovascular Diseases Differential Diagnosis Females Genetic Predisposition to Disease Homo sapiens Male Marfan Syndrome Middle Aged Mutation Smad3 Protein Syndrome | ||
| 1 (21.2%) |
23272854 |
Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome. Martens T, Van Herzeele I, De Ryck F, Renard M, De Paepe A, Francois K, Vermassen F, De Backer J. Ann Thorac Surg. 2013;95(1):332-5. |
| Osteoarthritis | ||
| SMAD3 | ||
| Adult Aortic Aneurysm, Thoracic DNA Differential Diagnosis Disease Progression Follow-Up Studies Genetic Predisposition to Disease Homo sapiens Iliac Aneurysm Magnetic Resonance Angiography Mutation Smad3 Protein Syndrome | ||
| 5 (4.0%) |
27986426 |
Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection. Garcia-Bermudez M, Moustafa AH, Barros-Membrilla A, Tizon-Marcos H. Can J Cardiol. 2017;33(2):292.e1-292.e3. |
| Coronary artery dissection | ||
| SMAD3 | ||
| Adult Coronary Vessel Anomalies DNA DNA Mutational Analysis Homo sapiens Mutation Smad3 Protein Ultrasonography, Interventional Unconscious State Vascular Diseases |
Total: 51
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001763 | Pes planus | Very frequent (99-80%) |
| HP:0002617 | Dilatation | Very frequent (99-80%) |
| HP:0011645 | Dilatation of the sinus of Valsalva | Very frequent (99-80%) |
| HP:0000023 | Inguinal hernia | Frequent (79-30%) |
| HP:0000139 | Uterine prolapse | Frequent (79-30%) |
| HP:0000193 | Bifid uvula | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000272 | Malar flattening | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000348 | High forehead | Frequent (79-30%) |
| HP:0000689 | Dental malocclusion | Frequent (79-30%) |
| HP:0000978 | Bruising susceptibility | Frequent (79-30%) |
| HP:0000987 | Atypical scarring of skin | Frequent (79-30%) |
| HP:0001065 | Striae distensae | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001537 | Umbilical hernia | Frequent (79-30%) |
| HP:0001653 | Mitral regurgitation | Frequent (79-30%) |
| HP:0001659 | Aortic regurgitation | Frequent (79-30%) |
| HP:0002076 | Migraine | Frequent (79-30%) |
| HP:0002315 | Headache | Frequent (79-30%) |
| HP:0002647 | Aortic dissection | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002758 | Osteoarthritis | Frequent (79-30%) |
| HP:0003179 | Protrusio acetabuli | Frequent (79-30%) |
| HP:0004268 | Osteoarthritis of the small joints of the hand | Frequent (79-30%) |
| HP:0004944 | Dilatation of the cerebral artery | Frequent (79-30%) |
| HP:0005086 | Knee osteoarthritis | Frequent (79-30%) |
| HP:0005116 | Arterial tortuosity | Frequent (79-30%) |
| HP:0005294 | Arterial dissection | Frequent (79-30%) |
| HP:0012432 | Chronic fatigue | Frequent (79-30%) |
| HP:0025487 | Abnormality of bladder morphology | Frequent (79-30%) |
| HP:0000278 | Retrognathia | Occasional (29-5%) |
| HP:0000767 | Pectus excavatum | Occasional (29-5%) |
| HP:0000768 | Pectus carinatum | Occasional (29-5%) |
| HP:0001388 | Joint laxity | Occasional (29-5%) |
| HP:0001519 | Disproportionate tall stature | Occasional (29-5%) |
| HP:0001627 | Abnormal heart morphology | Occasional (29-5%) |
| HP:0001642 | Pulmonic stenosis | Occasional (29-5%) |
| HP:0001712 | Left ventricular hypertrophy | Occasional (29-5%) |
| HP:0003302 | Spondylolisthesis | Occasional (29-5%) |
| HP:0004953 | obsolete Dilatation of abdominal aorta | Occasional (29-5%) |
| HP:0005110 | Atrial fibrillation | Occasional (29-5%) |
| HP:0008419 | Intervertebral disc degeneration | Occasional (29-5%) |
| HP:0010886 | Osteochondritis Dissecans | Occasional (29-5%) |
| HP:0100490 | Camptodactyly of finger | Occasional (29-5%) |
| HP:0100775 | Dural ectasia | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Very rare (4-1%) |
| HP:0000939 | Osteoporosis | Very rare (4-1%) |
| HP:0001643 | Patent ductus arteriosus | Very rare (4-1%) |
| HP:0001363 | Craniosynostosis | Excluded (0%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002758 | Osteoarthritis | 3 |
| HP:0012727 | Thoracic aortic aneurysm | 2 |