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
Displaying 1 entry
Gene ID Gene Symbol Description Source
113189 CHST14 carbohydrate sulfotransferase 14
Displaying 1 entry
Gene ID Gene Symbol Description Source
72136 Chst14 carbohydrate sulfotransferase 14
Displaying 1 entry
Gene ID Gene Symbol Description Source
691394 Chst14 carbohydrate sulfotransferase 14
Displaying 1 entry
Gene ID Gene Symbol Description Source
404732 chst14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
Displaying all 2 entries
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
Displaying 1 entry
UniProt ID Protein Name Source
Q8NCH0 Carbohydrate sulfotransferase 14
The Human Phenotype Ontology
Displaying entries 21 - 30 of 103 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

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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