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 1 - 10 of 85 in total
HPO ID HPO Term
HP:0000009 Functional abnormality of the bladder
HP:0000023 Inguinal hernia
HP:0000028 Cryptorchidism
HP:0000085 Horseshoe kidney
HP:0000126 Hydronephrosis
HP:0000160 Narrow mouth
HP:0000175 Cleft palate
HP:0000218 High palate
HP:0000219 Thin upper lip vermilion
HP:0000239 Large fontanelles
Displaying all 2 entries
Gene ID Gene Symbol Description
113189 CHST14 carbohydrate sulfotransferase 14
29940 DSE dermatan sulfate epimerase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024