| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (53.4%) |
12770659 |
Airway management of a patient with Weill-Marchesani syndrome. Karabiyik L. J Clin Anesth. 2003;15(3):214-6. |
| Narrow palate Brachydactyly | ||
| Adult Anesthesia, Intravenous Connective Tissue Diseases Homo sapiens Laryngeal Masks Lens, Crystalline Male Mouth Abnormalities Syndrome | ||
| 2 (48.2%) |
24214363 |
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V. Am J Med Genet A. 2013;161A(12):3130-2. |
| Ectopia lentis Small hand | ||
| ADAMTS10 ADAMTS17 ADAMTSL2 FBN1 TGFB1 | ||
| c|SUB|A|IVS8-2|G c|SUB|G|IVS14-7|A | ||
| ADAM Proteins ADAMTS Proteins Adult Bone Diseases, Developmental Differential Diagnosis Dwarfism Females Fibrillins Homo sapiens Limb Deformities, Congenital Microfilament Proteins Point Mutation | ||
| 3 (45.9%) |
22486325 |
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS. Ophthalmic Genet. 2012;33(4):235-9. |
| Joint stiffness Short foot | ||
| ADAMTS10 ADAMTS17 FBN1 | ||
| p|FS|D|218|T|41 rs1555501030 | ||
| ADAM Proteins ADAMTS Proteins Dwarfism Females Genotyping Techniques Homo sapiens Male Mutation Polymerase Chain Reaction Saudi Arabia Sequence Analysis, DNA Young Adult | ||
| 4 (35.3%) |
26966104 |
Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features. Lim SH, Son JH, Cha SC. Int Ophthalmol. 2016;36(6):921-924. |
| Brachydactyly | ||
| Adult Angle Closure Glaucoma Corneal Diseases Ectopia Lentis Glaucoma Homo sapiens Lens, Crystalline Male Myopia | ||
| 4 (35.3%) |
25571963 (4298062) |
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. Guo H, Wu X, Cai K, Qiao Z. BMC Ophthalmol. 2015;15:3. |
| Glaucoma Brachydactyly | ||
| Adult Corneal Diseases Ectopia Lentis Females Glaucoma Homo sapiens Lens Subluxation | ||
| 4 (35.3%) |
25469541 (4538198) |
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F. Eur J Hum Genet. 2015;23(9):1186-91. |
| Brachydactyly | ||
| ADAMTS10 | ||
| c|SUB|T|41|A | ||
| ADAM Proteins ADAMTS Proteins Amino Acid Sequence Base Sequence Endoplasmic Reticulum Females Gene Expression Genotype HEK293 Cells Homo sapiens Homozygote Missense Mutation Molecular Sequence Data Phenotype Sequence Analysis, DNA Young Adult | ||
| 4 (35.3%) |
24940034 (4057248) |
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. Shah MH, Bhat V, Shetty JS, Kumar A. Mol Vis. 2014;20:790-6. |
| Brachydactyly | ||
| ADAMTS10 ADAMTS17 FBN1 LTBP2 | ||
| c|SUB|G|873+1|T rs1160509052 | ||
| ADAM Proteins ADAMTS Proteins Adult Base Sequence Computational Biology Exome Family Females Genetic Predisposition to Disease Homo sapiens Homozygote India Male Middle Aged Molecular Sequence Data Mutation Phenotype RNA Splice Sites RNA Splicing Reproducibility of Results Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Young Adult | ||
| 4 (35.3%) |
22864047 |
Weill- Marchesani syndrome: a rare case report. Puri LR, Sharma H, Aryal S. Nepal J Ophthalmol. 2012;4(2):336-8. |
| Myopia Brachydactyly | ||
| Differential Diagnosis Disease Progression Homo sapiens Lens Subluxation Lens, Crystalline Male Myopia Ocular Refraction Visual Acuity Young Adult | ||
| 4 (35.3%) |
22606482 (3350144) |
Retinal vascular tortuosity in a patient with weill-marchesani syndrome. Gallagher K, Salam T, Sin B, Gupta S, Zambarakji H. Case Rep Ophthalmol Med. 2011;2011:952543. |
| Blurred vision Brachydactyly | ||
| 4 (35.3%) |
22569327 |
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis. Mandal SK, Mondal SS, Mani S, Chatterjee S, Chatterjee K, Bhattacharya R, Pramanik AB. Indian J Med Sci. 2010;64(3):140-3. |
| Optic atrophy Brachydactyly | ||
| Females Homo sapiens Pulmonary Valve Stenosis |
Total: 16
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000501 | Glaucoma | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0009778 | Short thumb | Very frequent (99-80%) |
| HP:0011003 | High myopia | Very frequent (99-80%) |
| HP:0001072 | Thickened skin | Frequent (79-30%) |
| HP:0001083 | Ectopia lentis | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000572 | Visual loss | Occasional (29-5%) |
| HP:0001256 | Intellectual disability, mild | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001642 | Pulmonic stenosis | Occasional (29-5%) |
| HP:0001650 | Aortic valve stenosis | Occasional (29-5%) |
| HP:0001653 | Mitral regurgitation | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000501 | Glaucoma | 16 |
| HP:0030961 | Microspherophakia | 13 |
| HP:0004322 | Short stature | 10 |
| HP:0001083 | Ectopia lentis | 8 |
| HP:0001156 | Brachydactyly | 8 |
| HP:0012109 | Angle closure glaucoma | 5 |
| HP:0000545 | Myopia | 3 |
| HP:0001387 | Joint stiffness | 3 |
| HP:0011003 | High myopia | 3 |
| HP:0001132 | Lens subluxation | 2 |
| HP:0000518 | Cataract | 1 |
| HP:0000563 | Keratoconus | 1 |
| HP:0000648 | Optic atrophy | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0001634 | Mitral valve prolapse | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0012841 | Retinal vascular tortuosity | 1 |