Ehlers-Danlos syndrome spondylodysplastic type 1

Summary
Definition
An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.
Super Class
Ehlers-Danlos syndrome autosomal recessive disease
External Links
Disease Ontology
DOID:0080738
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11285 B4GALT7 beta-1,4-galactosyltransferase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
218271 B4galt7 beta-1,4-galactosyltransferase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
364675 B4galt7 beta-1,4-galactosyltransferase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
42991 beta4GalT7 beta-4-galactosyltransferase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
445022 b4galt7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
495369 b4galt7.S xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 S homeolog Xenopus laevis (African clawed frog)
100144979 b4galt7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 Xenopus tropicalis (tropical clawed frog)
108710989 b4galt7.L xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
176382 sqv-3 Xylosylprotein 4-beta-galactosyltransferase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9UBV7 Beta-1,4-galactosyltransferase 7
The Human Phenotype Ontology
Displaying entries 21 - 30 of 74 in total
HPO ID HPO Term
HP:0000286 Epicanthus
HP:0003202 Skeletal muscle atrophy
HP:0000987 Atypical scarring of skin
HP:0007469 Palmoplantar cutis gyrata
HP:0001252 Hypotonia
HP:0000938 Osteopenia
HP:0001999 Abnormal facial shape
HP:0010511 Long toe
HP:0001075 Atrophic scars
HP:0005328 Progeroid facial appearance
Displaying 1 entry
Gene ID Gene Symbol Description
11285 B4GALT7 beta-1,4-galactosyltransferase 7

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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