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Ehlers-Danlos syndrome musculocontractural type 1
Summary
- Definition
- An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14.
- Super Class
- Ehlers-Danlos syndrome autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080736
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100496179 | chst14 | carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 | Xenopus tropicalis (tropical clawed frog) | |
| 108699261 | chst14.L | carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NCH0 | Carbohydrate sulfotransferase 14 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000501 | Glaucoma |
| HP:0000541 | Retinal detachment |
| HP:0000545 | Myopia |
| HP:0000592 | Blue sclerae |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000787 | Nephrolithiasis |
| HP:0000974 | Hyperextensible skin |
| HP:0000978 | Bruising susceptibility |
| HP:0001075 | Atrophic scars |
