| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (35.3%) |
30556293 |
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. Rath M, Spiegler S, Strom TM, Trenkler J, Kroisel PM, Felbor U. Am J Med Genet A. 2019;179(2):295-299. |
| Hypertension Brachydactyly | ||
| Adult Arterial Occlusive Diseases Bone and Bones Brachydactyly Cell Cycle Proteins Child Congenital Heart Defects Females Genetic Predisposition to Disease Homo sapiens Male Middle Aged Protein Isoforms Syndactyly Whole Exome Sequencing | ||
| 1 (35.3%) |
11241488 |
Severe arterial occlusive disorder and brachysyndactyly in a boy: a further case of Grange syndrome? Weymann S, Yonekawa Y, Khan N, Martin E, Heppner FL, Schinzel A, Kotzot D. Am J Med Genet. 2001;99(3):190-5. |
| Brachydactyly | ||
| rs1057519598 | ||
| Arterial Occlusive Diseases Fingers Homo sapiens Male Syndactyly Syndrome | ||
| 3 (4.0%) |
22987684 |
Grange syndrome: an identifiable cause of stroke in young adults. Volonghi I, Frigerio M, Mardighian D, Gasparotti R, Del Zotto E, Giossi A, Costa P, Poli L, Jeannin G, Gregorini GA, Padovani A, Pezzini A. Am J Med Genet A. 2012;158A(11):2894-8. |
| Hypertension | ||
| Arterial Occlusive Diseases Bone and Bones Brachydactyly Cerebral Angiography Congenital Foot Deformity Congenital Hand Deformities Congenital Heart Defects Facies Females Homo sapiens Intracranial Aneurysm Phenotype Subarachnoid Hemorrhage Syndactyly | ||
| 3 (4.0%) |
16691574 |
A new case of Grange syndrome without cardiac findings. Wallerstein R, Augustyn AM, Wallerstein D, Elton L, Tejeiro B, Johnson V, Lieberman K. Am J Med Genet A. 2006;140(12):1316-20. |
| Hypertension | ||
| rs759089960 | ||
| Child, Preschool Congenital Heart Defects Females Homo sapiens Hypertension, Renovascular Learning Disabilities Syndactyly Syndrome |
Total: 10
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0002659 | Increased susceptibility to fractures | Very frequent (99-80%) |
| HP:0006889 | Intellectual disability, borderline | Very frequent (99-80%) |
| HP:0100545 | Arterial stenosis | Very frequent (99-80%) |
| HP:0000822 | Hypertension | Frequent (79-30%) |
| HP:0001159 | Syndactyly | Frequent (79-30%) |
| HP:0001659 | Aortic regurgitation | Frequent (79-30%) |
| HP:0004279 | Short palm | Frequent (79-30%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000822 | Hypertension | 2 |
| HP:0001297 | Stroke | 1 |
| HP:0002138 | Subarachnoid hemorrhage | 1 |