Ehlers-Danlos syndrome spondylodysplastic type 2

Summary
Synonym
  • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
  • Ehlers-Danlos syndrome progeroid type
Definition
An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene.
Super Class
Ehlers-Danlos syndrome autosomal recessive disease
External Links
Disease Ontology
DOID:0050802
Mondo Disease Ontology
UMLS
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
1462 VCAN versican
1634 DCN decorin
3339 HSPG2 heparan sulfate proteoglycan 2
5553 PRG2 proteoglycan 2, pro eosinophil major basic protein
11285 B4GALT7 beta-1,4-galactosyltransferase 7
126792 B3GALT6 beta-1,3-galactosyltransferase 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
117592 B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
298690 B3galt6 Beta-1,3-galactosyltransferase 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
35848 beta3GalTII beta-1,3-Galactosyltransferase II
Displaying 1 entry
Gene ID Gene Symbol Description Source
572324 b3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
548849 b3galt6 Beta-1,3-galactosyltransferase 6 Xenopus tropicalis (tropical clawed frog)
108696563 b3galt6.L Beta-1,3-galactosyltransferase 6 L homeolog Xenopus laevis (African clawed frog)
108697636 b3galt6.S Beta-1,3-galactosyltransferase 6 S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
173635 sqv-2 Beta-1,3-galactosyltransferase sqv-2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 100 in total
HPO ID HPO Term
HP:0000218 High palate
HP:0000238 Hydrocephalus
HP:0000343 Long philtrum
HP:0000347 Micrognathia
HP:0000358 Posteriorly rotated ears
HP:0000369 Low-set ears
HP:0000410 Mixed hearing impairment
HP:0000463 Anteverted nares
HP:0000473 Torticollis
HP:0000482 Microcornea
Displaying 1 entry
Gene ID Gene Symbol Description
126792 B3GALT6 beta-1,3-galactosyltransferase 6

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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