| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 21 (21.2%) |
25142510 |
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia. Wang Y, Zhang H, Ye J, Han L, Gu X. J Hum Genet. 2014;59(10):563-7. |
| Ectopia lentis Skeletal dysplasia | ||
| ADAMTSL2 FBN1 | ||
| c|SUB|A|5189|T c|SUB|G|5198|A c|SUB|G|5198|T c|SUB|G|5243|T p|SUB|C|1733|F p|SUB|C|1733|Y p|SUB|C|1748|F p|SUB|C|1748|R p|SUB|N|1730|I | ||
| Bone Diseases, Developmental Child Child, Preschool China DNA Mutational Analysis Females Fibrillins Homo sapiens Infant Infant, Newborn Limb Deformities, Congenital Male Microfilament Proteins Missense Mutation Pregnancy Tertiary Protein Structure | ||
| 21 (21.2%) |
2738900 |
Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. MacDermot KD, Patton MA, Williams MJ, Winter RM. J Med Genet. 1989;26(6):382-5. |
| Skeletal dysplasia | ||
| rs1131691799 rs150800017 rs1555036394 rs1555036436 rs1555038115 rs1555039242 rs1555039343 rs1555039606 rs1555040480 rs1555046355 rs1555046404 rs1555046428 rs1555046615 rs1555047506 rs1555052879 rs1555053483 rs1555138529 rs781978013 rs782297546 rs868985556 rs886041896 | ||
| Adult Age Determination by Skeleton Child Females Growth Disorders Homo sapiens Hypertrichosis Male | ||
| 23 (20.4%) |
16749567 |
Anesthetic characteristics and airway evaluation of patients with Weill-Marchesani syndrome. Riad W, Abouammoh M, Fathy M. Middle East J Anaesthesiol. 2006;18(4):725-31. |
| Glaucoma Joint stiffness | ||
| Adult Connective Tissue Diseases Homo sapiens Male Syndrome | ||
| 23 (20.4%) |
12648208 |
Anesthetic management of a patient with Weill-Marchesani syndrome. Dal D, Sahin A, Aypar U. Acta Anaesthesiol Scand. 2003;47(3):369-70. |
| Glaucoma Joint stiffness | ||
| Adult Anesthetics, Inhalation Connective Tissue Diseases General Anesthesia Glaucoma Homo sapiens Laryngeal Masks Male Methyl Ethers Ophthalmologic Surgical Procedures Syndrome | ||
| 23 (20.4%) |
11912838 |
[Weill Marchesani syndrome. Report of a case]. el Kettani A, Hamdani M, Rais L, el Belhadji M, Rachid R, Laouissi N, Zaghloul K, Amraoui A. J Fr Ophtalmol. 2001;24(9):944-8. |
| Glaucoma Joint stiffness | ||
| Adult Bone and Bones Dwarfism Homo sapiens Lens, Crystalline Male Phenotype Syndrome | ||
| 23 (20.4%) |
6739588 |
Median nerve compression in Weill-Marchesani syndrome. Dellon AL, Trojak JE, Rochman GM. Plast Reconstr Surg. 1984;74(1):127-30. |
| Joint stiffness | ||
| Body Height Carpal Tunnel Syndrome Child, Preschool Connective Tissue Diseases Females Fingers Homo sapiens Male Movement Syndrome | ||
| 23 (20.4%) |
1519650 |
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes. Verloes A, Hermia JP, Galand A, Koulischer L, Dodinval P. Am J Med Genet. 1992;44(1):48-51. |
| Glaucoma Joint stiffness | ||
| Adult Arthropathy Ectopia Lentis Females Glaucoma Growth Disorders Homo sapiens Male Pregnancy Syndrome | ||
| 28 (4.0%) |
31114122 |
Fibrin Glue-Assisted Intraocular Lens Fixation in Weill-Marchesani Syndrome. Kalamkar C, Radke NV, Mukherjee A, Radke SN. Middle East Afr J Ophthalmol. 2019;26(1):33-36. |
| Glaucoma | ||
| Adult Fibrin Tissue Adhesive Homo sapiens Male Pseudophakia Sclera Tissue Adhesives Visual Acuity Vitrectomy | ||
| 28 (4.0%) |
30380740 (6266624) |
Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma. Saeedi O, Yousaf S, Tsai J, Palmer K, Riazuddin S, Ahmed ZM. Genes (Basel). 2018;9(11):. |
| Glaucoma | ||
| LTBP2 | ||
| c|SUB|C|2966|G;RS#:76172717 c|SUB|T|5235|G;RS#:528254230 p|SUB|N|1745|K;RS#:528254230 p|SUB|P|989|R;RS#:76172717 | ||
| 28 (4.0%) |
29191498 |
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH. Eur J Med Genet. 2018;61(4):219-224. |
| Short stature | ||
| ADAMTSL2 FBN1 | ||
| c|SUB|G|5284|A;RS#:387906623 p|SUB|G|1762|S;RS#:387906623 | ||
| ADAMTS Proteins Bone Diseases, Developmental Child Child, Preschool Females Genotype Heterozygote Homo sapiens Limb Deformities, Congenital Male Middle Aged Missense Mutation Phenotype |
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 |