Ehlers-Danlos syndrome musculocontractural type 2

Summary
Definition
An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22.
Super Class
Ehlers-Danlos syndrome autosomal recessive disease
External Links
Disease Ontology
DOID:0080737
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29940 DSE dermatan sulfate epimerase
The Human Phenotype Ontology
Displaying entries 21 - 30 of 85 in total
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
Displaying all 2 entries
Gene ID Gene Symbol Description
113189 CHST14 carbohydrate sulfotransferase 14
29940 DSE dermatan sulfate epimerase

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024