Ehlers-Danlos syndrome
SaudiVarKB evidence summary derived from retained literature mentions.
18Phenotype mentions
18Publications
23Associated gene records
10Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| COL1A1 | HGNC:2197 | 3 | 3 |
| COL1A2 | HGNC:2198 | 2 | 2 |
| AEBP1 | HGNC:303 | 2 | 2 |
| COL5A1 | HGNC:2209 | 2 | 2 |
| ZNF469 | HGNC:23216 | 2 | 2 |
| SLC2A10 | HGNC:13444 | 1 | 1 |
| OLA1 | HGNC:28833 | 1 | 1 |
| KCNQ1 | HGNC:6294 | 1 | 1 |
| COL3A1 | HGNC:2201 | 1 | 1 |
| ALDH18A1 | HGNC:9722 | 1 | 1 |
| TNXB | HGNC:11976 | 1 | 1 |
| PRDM5 | HGNC:9349 | 1 | 1 |
| SPARC | HGNC:11219 | 1 | 1 |
| ROBO1 | HGNC:10249 | 1 | 1 |
| B3GALT6 | HGNC:17978 | 1 | 1 |
| GORAB | HGNC:25676 | 1 | 1 |
| B3GAT3 | HGNC:923 | 1 | 1 |
| FKBP14 | HGNC:18625 | 1 | 1 |
| PYCR1 | HGNC:9721 | 1 | 1 |
| CHST14 | HGNC:24464 | 1 | 1 |
| ATP6V1E1 | HGNC:857 | 1 | 1 |
| ATP6V0D2 | HGNC:18266 | 1 | 1 |
| KCNE1 | HGNC:6240 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| p.Glu684Lys | p.Glu684Lys | 2 | 2 |
| c.2050G>A | c.2050G>A | 1 | 1 |
| p.S81R | p.S81R | 1 | 1 |
| c.8488C>T | c.8488C>T | 1 | 1 |
| p.Gln2830* | p.Gln2830* | 1 | 1 |
| c.1470delC | c.1470delC | 1 | 1 |
| c.1743C>A | c.1743C>A | 1 | 1 |
| c.1320_1326del | c.1320_1326del | 1 | 1 |
| c.1630+1G>A | c.1630+1G>A | 1 | 1 |
| c.8817_8830dup | c.8817_8830dup | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 5 | 5 |
| Population record | — | 2 | 2 |
| Population record | Cohort 18 | 1 | 1 |
| Population record | Cohort 69 | 1 | 1 |
| Saudi Arabia · Jazan | — | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 23 | 1 | 1 |
Supporting publications
18 records- 2026Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.Journal of perinatal medicine1 mentions
- 2026Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.American journal of human genetics1 mentions
- 2026A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.Genes1 mentions
- 2026Intracerebral Hemorrhage in a Middle-Aged Male With Classical Ehlers-Danlos Syndrome in the Absence of Macrovascular Lesions: A Case Report.Cureus1 mentions
- 2025A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers-Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan-McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report.Pediatric reports1 mentions
- 2022Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene.American journal of medical genetics. Part A1 mentions
- 2022Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.Journal of cutaneous pathology1 mentions
- 2021Gastric perforation leading to the diagnosis of classic Ehlers-Danlos syndrome: a case report.Journal of medical case reports1 mentions
- 2020Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.Global medical genetics1 mentions
- 2018The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.Clinical genetics1 mentions
- 2018Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.American journal of human genetics1 mentions
- 2016Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.Human genetics1 mentions
- 2015Myofibroblast expression in skin wounds is enhanced by collagen III suppression.BioMed research international1 mentions
- 2014Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.Clinical genetics1 mentions
- 2012Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.Gene1 mentions
- 2011Rectal redundancy leading to intestinal obstruction in a boy with Ehlers-Danlos syndrome.Tropical gastroenterology : official journal of the Digestive Diseases Foundation1 mentions
- 2004Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.American journal of medical genetics. Part A1 mentions
- 1993Corneal abnormalities in Ehlers-Danlos syndrome type VI.Cornea1 mentions