| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (61.1%) |
27264924 |
Acute myeloblastic leukemia-associated Marfan syndrome and Davidoff-Dyke-Masson syndrome: a case report. Demir C, Bay A, Dilek I, Oner AF. Turk J Haematol. 2008;25(4):198-200. |
| Facial asymmetry Arachnodactyly Hemiatrophy | ||
| ANPEP CD14 CD33 | ||
| 2 (60.5%) |
22349745 |
Anesthetic management of a child with both Marfan syndrome and Turner syndrome. Ornek D, Aydn GB, Kahveci K, Cicek F, Dikmen B. J Anesth. 2012;26(3):442-4. |
| High palate Micrognathia | ||
| Child, Preschool Females Homo sapiens Marfan Syndrome Turner Syndrome | ||
| 3 (58.9%) |
15287423 |
Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene. Elcioglu NH, Akalin F, Elcioglu M, Comeglio P, Child AH. Genet Couns. 2004;15(2):219-25. |
| Microretrognathia Arachnodactyly | ||
| FBN1 | ||
| rs137854481 | ||
| Ectopia Lentis Fatal Outcome Fibrillins Homo sapiens Infant, Newborn Male Marfan Syndrome Microfilament Proteins Missense Mutation | ||
| 3 (58.9%) |
1856834 |
Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE. J Med Genet. 1991;28(4):267-73. |
| Micrognathia Arachnodactyly | ||
| Contracture Homo sapiens Infant, Newborn Male Marfan Syndrome Mitral Valve Insufficiency Mutation Physical Examination Tricuspid Valve Insufficiency | ||
| 5 (58.2%) |
6613995 |
Duplication 9q34 syndrome. Allderdice PW, Eales B, Onyett H, Sprague W, Henderson K, Lefeuvre PA, Pal G. Am J Hum Genet. 1983;35(5):1005-19. |
| Retrognathia Facial asymmetry Arachnodactyly | ||
| Adult Child Chromosome Aberrations Chromosome Banding Chromosomes, Human, 6-12 and X Females Heterozygote Homo sapiens Infant, Newborn Male Middle Aged Newfoundland and Labrador Psychomotor Disorders Risk Syndrome | ||
| 6 (53.2%) |
8319712 |
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. Christodoulou J, Petrova-Benedict R, Robinson BH, Jay V, Clarke JT. Eur J Pediatr. 1993;152(5):428-32. |
| Dolichocephaly Arachnodactyly | ||
| Electron Transport Complex I Homo sapiens Infant Male Marfan Syndrome Mitochondria, Muscle NADH, NADPH Oxidoreductases Phenotype | ||
| 7 (52.0%) |
26200704 |
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes. Martinez F, Marin-Reina P, Sanchis-Calvo A, Perez-Aytes A, Oltra S, Rosello M, Mayo S, Monfort S, Pantoja J, Orellana C. Pediatr Res. 2015;78(5):533-9. |
| Narrow face Arachnodactyly | ||
| rs1555707363 rs770170081 | ||
| Amino Acid Sequence Base Sequence Bone Diseases, Developmental Child Child, Preschool Craniofacial Abnormalities DNA Mutational Analysis Exons Fatal Outcome Females Genetic Association Studies Genetic Markers Genetic Predisposition to Disease Homo sapiens Infant Infant, Newborn Male Molecular Sequence Data Mutation NFI Transcription Factors Phenotype Septo-Optic Dysplasia Young Adult | ||
| 8 (46.6%) |
28442527 |
A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl. Nam HK, Nam MH, Ha KS, Rhie YJ, Lee KH. Ann Clin Lab Sci. 2017;47(2):221-225. |
| High palate Pes planus | ||
| FBN1 | ||
| c|SUB|G|2810|A rs113602180 | ||
| Base Sequence Child DNA Mutational Analysis Females Homo sapiens Marfan Syndrome Mutation Phenotype South Korea | ||
| 9 (45.8%) |
3223499 |
Arachnodactyly and unusual dermatoglyphics: study of a case. Krush AJ, Schaumann BA, Youssoufian H. Am J Med Genet. 1988;31(1):57-62. |
| Arachnodactyly Rhizomelia | ||
| Child, Preschool Dermatoglyphics Females Homo sapiens Male Marfan Syndrome | ||
| 10 (45.4%) |
23980558 |
Marfan syndrome: a review of the literature and case report. Tsang AK, Taverne A, Holcombe T. Spec Care Dentist. 2013;33(5):248-54. |
| Retrognathia Dental crowding | ||
| Child Females Homo sapiens Marfan Syndrome Mouth Diseases |
Total: 59
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000768 | Pectus carinatum | Very frequent (99-80%) |
| HP:0001065 | Striae distensae | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | Very frequent (99-80%) |
| HP:0001519 | Disproportionate tall stature | Very frequent (99-80%) |
| HP:0001533 | Slender build | Very frequent (99-80%) |
| HP:0001763 | Pes planus | Very frequent (99-80%) |
| HP:0002108 | Spontaneous pneumothorax | Very frequent (99-80%) |
| HP:0005111 | obsolete Dilatation of the ascending aorta | Very frequent (99-80%) |
| HP:0012432 | Chronic fatigue | Very frequent (99-80%) |
| HP:0000275 | Narrow face | Frequent (79-30%) |
| HP:0000505 | Visual impairment | Frequent (79-30%) |
| HP:0000545 | Myopia | Frequent (79-30%) |
| HP:0000678 | Dental crowding | Frequent (79-30%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0001083 | Ectopia lentis | Frequent (79-30%) |
| HP:0001132 | Lens subluxation | Frequent (79-30%) |
| HP:0001382 | Joint hypermobility | Frequent (79-30%) |
| HP:0001634 | Mitral valve prolapse | Frequent (79-30%) |
| HP:0002360 | Sleep disturbance | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002705 | High, narrow palate | Frequent (79-30%) |
| HP:0003179 | Protrusio acetabuli | Frequent (79-30%) |
| HP:0005059 | Arthralgia/arthritis | Frequent (79-30%) |
| HP:0007800 | Increased axial length of the globe | Frequent (79-30%) |
| HP:0012019 | Lens luxation | Frequent (79-30%) |
| HP:0012369 | Abnormality of malar bones | Frequent (79-30%) |
| HP:0100775 | Dural ectasia | Frequent (79-30%) |
| HP:0000023 | Inguinal hernia | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000278 | Retrognathia | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000541 | Retinal detachment | Occasional (29-5%) |
| HP:0000938 | Osteopenia | Occasional (29-5%) |
| HP:0000939 | Osteoporosis | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001635 | Congestive heart failure | Occasional (29-5%) |
| HP:0002097 | Emphysema | Occasional (29-5%) |
| HP:0002105 | Hemoptysis | Occasional (29-5%) |
| HP:0002435 | Meningocele | Occasional (29-5%) |
| HP:0002636 | Dilatation of an abdominal artery | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0002996 | Limited elbow movement | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0003302 | Spondylolisthesis | Occasional (29-5%) |
| HP:0003326 | Myalgia | Occasional (29-5%) |
| HP:0004326 | Cachexia | Occasional (29-5%) |
| HP:0004382 | Mitral valve calcification | Occasional (29-5%) |
| HP:0004927 | Pulmonary artery dilatation | Occasional (29-5%) |
| HP:0004933 | Ascending aortic dissection | Occasional (29-5%) |
| HP:0005294 | Arterial dissection | Occasional (29-5%) |
| HP:0006687 | Aortic tortuosity | Occasional (29-5%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Occasional (29-5%) |
| HP:0007676 | Hypoplasia of the iris | Occasional (29-5%) |
| HP:0007720 | Flat cornea | Occasional (29-5%) |
| HP:0010807 | Open bite | Occasional (29-5%) |
| HP:0012499 | Descending aortic dissection | Occasional (29-5%) |
Total: 194
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002647 | Aortic dissection | 91 |
| HP:0002617 | Dilatation | 40 |
| HP:0004942 | Aortic aneurysm | 31 |
| HP:0100775 | Dural ectasia | 20 |
| HP:0001659 | Aortic regurgitation | 19 |
| HP:0001083 | Ectopia lentis | 16 |
| HP:0000767 | Pectus excavatum | 14 |
| HP:0001653 | Mitral regurgitation | 14 |
| HP:0000822 | Hypertension | 13 |
| HP:0012727 | Thoracic aortic aneurysm | 13 |
| HP:0002315 | Headache | 12 |
| HP:0005112 | Abdominal aortic aneurysm | 12 |
| HP:0001634 | Mitral valve prolapse | 11 |
| HP:0001647 | Bicuspid aortic valve | 11 |
| HP:0002107 | Pneumothorax | 10 |
| HP:0100584 | Endocarditis | 10 |
| HP:0001166 | Arachnodactyly | 9 |
| HP:0000545 | Myopia | 8 |
| HP:0002108 | Spontaneous pneumothorax | 8 |
| HP:0002650 | Scoliosis | 8 |
| HP:0007293 | Anterior sacral meningocele | 8 |
| HP:0031625 | Pseudoaneurysm | 8 |
| HP:0100749 | Chest pain | 8 |
| HP:0000501 | Glaucoma | 7 |
| HP:0002097 | Emphysema | 7 |
| HP:0002616 | Aortic root aneurysm | 6 |
| HP:0100753 | Schizophrenia | 6 |
| HP:0000098 | Tall stature | 5 |
| HP:0002156 | Homocystinuria | 5 |
| HP:0031649 | Aortic rupture | 5 |
| HP:0000518 | Cataract | 4 |
| HP:0000541 | Retinal detachment | 4 |
| HP:0001132 | Lens subluxation | 4 |
| HP:0001945 | Fever | 4 |
| HP:0002094 | Dyspnea | 4 |
| HP:0100790 | Hernia | 4 |
| HP:0001635 | Congestive heart failure | 3 |
| HP:0001638 | Cardiomyopathy | 3 |
| HP:0002580 | Volvulus | 3 |
| HP:0002615 | Hypotension | 3 |
| HP:0003418 | Back pain | 3 |
| HP:0005294 | Arterial dissection | 3 |
| HP:0009125 | Lipodystrophy | 3 |
| HP:0012089 | Arteritis | 3 |
| HP:0012180 | Cystic medial necrosis | 3 |
| HP:0032079 | Medial degeneration | 3 |
| HP:0000316 | Hypertelorism | 2 |
| HP:0000739 | Anxiety | 2 |
| HP:0001289 | Confusion | 2 |
| HP:0001382 | Joint hypermobility | 2 |
| HP:0001907 | Thromboembolism | 2 |
| HP:0001909 | Leukemia | 2 |
| HP:0002098 | Respiratory distress | 2 |
| HP:0002099 | Asthma | 2 |
| HP:0002110 | Bronchiectasis | 2 |
| HP:0002140 | Ischemic stroke | 2 |
| HP:0002204 | Pulmonary embolism | 2 |
| HP:0002435 | Meningocele | 2 |
| HP:0002621 | Atherosclerosis | 2 |
| HP:0002634 | Arteriosclerosis | 2 |
| HP:0002878 | Respiratory failure | 2 |
| HP:0003270 | Abdominal distention | 2 |
| HP:0004933 | Ascending aortic dissection | 2 |
| HP:0004937 | Pulmonary artery aneurysm | 2 |
| HP:0005110 | Atrial fibrillation | 2 |
| HP:0005180 | Tricuspid regurgitation | 2 |
| HP:0007185 | Loss of consciousness | 2 |
| HP:0008443 | Spinal deformities | 2 |
| HP:0009901 | Crumpled ear | 2 |
| HP:0010301 | Spinal dysraphism | 2 |
| HP:0011675 | Arrhythmia | 2 |
| HP:0030882 | Coronary artery aneurysm | 2 |
| HP:0100719 | Lens coloboma | 2 |
| HP:0000027 | Azoospermia | 1 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000093 | Proteinuria | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000268 | Dolichocephaly | 1 |
| HP:0000276 | Long face | 1 |
| HP:0000478 | Abnormality of the eye | 1 |
| HP:0000490 | Deeply set eye | 1 |
| HP:0000491 | Keratitis | 1 |
| HP:0000563 | Keratoconus | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0000592 | Blue sclerae | 1 |
| HP:0000678 | Dental crowding | 1 |
| HP:0000709 | Psychosis | 1 |
| HP:0000768 | Pectus carinatum | 1 |
| HP:0000774 | Narrow chest | 1 |
| HP:0000787 | Nephrolithiasis | 1 |
| HP:0000789 | Infertility | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000843 | Hyperparathyroidism | 1 |
| HP:0001003 | Multiple lentigines | 1 |
| HP:0001056 | Milia | 1 |
| HP:0001073 | Cigarette-paper scars | 1 |
| HP:0001075 | Atrophic scars | 1 |
| HP:0001171 | Split hand | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001279 | Syncope | 1 |
| HP:0001287 | Meningitis | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001324 | Muscle weakness | 1 |
| HP:0001388 | Joint laxity | 1 |
| HP:0001548 | Overgrowth | 1 |
| HP:0001582 | Redundant skin | 1 |
| HP:0001629 | Ventricular septal defect | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001645 | Sudden cardiac death | 1 |
| HP:0001649 | Tachycardia | 1 |
| HP:0001655 | Patent foramen ovale | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001663 | Ventricular fibrillation | 1 |
| HP:0001694 | Right-to-left shunt | 1 |
| HP:0001919 | Acute kidney injury | 1 |
| HP:0001920 | Renal artery stenosis | 1 |
| HP:0002013 | Vomiting | 1 |
| HP:0002015 | Dysphagia | 1 |
| HP:0002017 | Nausea and vomiting | 1 |
| HP:0002018 | Nausea | 1 |
| HP:0002019 | Constipation | 1 |
| HP:0002036 | Hiatus hernia | 1 |
| HP:0002076 | Migraine | 1 |
| HP:0002138 | Subarachnoid hemorrhage | 1 |
| HP:0002253 | Colonic diverticula | 1 |
| HP:0002256 | Small bowel diverticula | 1 |
| HP:0002286 | Fair hair | 1 |
| HP:0002612 | Congenital hepatic fibrosis | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0002779 | Tracheomalacia | 1 |
| HP:0002870 | Obstructive sleep apnea | 1 |
| HP:0002907 | Microscopic hematuria | 1 |
| HP:0002947 | Cervical kyphosis | 1 |
| HP:0003179 | Protrusio acetabuli | 1 |
| HP:0003198 | Myopathy | 1 |
| HP:0003302 | Spondylolisthesis | 1 |
| HP:0003388 | Easy fatigability | 1 |
| HP:0004755 | Supraventricular tachycardia | 1 |
| HP:0004756 | Ventricular tachycardia | 1 |
| HP:0005113 | Aortic arch aneurysm | 1 |
| HP:0005116 | Arterial tortuosity | 1 |
| HP:0005313 | Arterial fibromuscular dysplasia | 1 |
| HP:0005758 | Basilar impression | 1 |
| HP:0005939 | Multiple bilateral pneumothoraces | 1 |
| HP:0006702 | Coronary artery dissection | 1 |
| HP:0007302 | Bipolar affective disorder | 1 |
| HP:0007906 | Ocular hypertension | 1 |
| HP:0008905 | Rhizomelia | 1 |
| HP:0009064 | Generalized lipodystrophy | 1 |
| HP:0010535 | Sleep apnea | 1 |
| HP:0010550 | Paraplegia | 1 |
| HP:0010562 | Keloids | 1 |
| HP:0010781 | Skin dimple | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0011666 | Absent right superior vena cava | 1 |
| HP:0011962 | Obstructive azoospermia | 1 |
| HP:0012019 | Lens luxation | 1 |
| HP:0012251 | ST segment elevation | 1 |
| HP:0012263 | Immotile cilia | 1 |
| HP:0012378 | Fatigue | 1 |
| HP:0012393 | Allergy | 1 |
| HP:0012499 | Descending aortic dissection | 1 |
| HP:0012759 | Neurodevelopmental abnormality | 1 |
| HP:0012771 | Increased arm span | 1 |
| HP:0012819 | Myocarditis | 1 |
| HP:0025612 | Corneal astigmatism | 1 |
| HP:0030084 | Clinodactyly | 1 |
| HP:0030148 | Heart murmur | 1 |
| HP:0030731 | Carcinoma | 1 |
| HP:0030833 | Neck pain | 1 |
| HP:0030839 | Knee pain | 1 |
| HP:0030957 | Ventricular septal aneurysm | 1 |
| HP:0030965 | Aortic stiffness | 1 |
| HP:0031273 | Shock | 1 |
| HP:0031500 | Abdominal mass | 1 |
| HP:0031944 | Pleural thickening | 1 |
| HP:0032005 | Hemidystonia | 1 |
| HP:0040075 | Hypopituitarism | 1 |
| HP:0040213 | Hypopnea | 1 |
| HP:0100532 | Scleritis | 1 |
| HP:0100537 | Fasciitis | 1 |
| HP:0100545 | Arterial stenosis | 1 |
| HP:0100699 | Scarring | 1 |
| HP:0100712 | Abnormality of the lumbar spine | 1 |
| HP:0100724 | Hypercoagulability | 1 |
| HP:0100735 | Hypertensive crisis | 1 |
| HP:0100762 | Hemobilia | 1 |
| HP:0100807 | Long fingers | 1 |
| HP:0100817 | Renovascular hypertension | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|