Details of Disease | DrugMAP

General Information of Disease (ID: DISJ607K)

Disease Name	Ehlers-Danlos syndrome, spondylodysplastic type, 1
Synonyms	Ehlers-Danlos syndrome, progeroid type, 1, formerly; Ehlers-Danlos syndrome, progeroid type, 1; galactosyltransferase 1 deficiency; XGPT deficiency; Ehlers-Danlos syndrome, progeroid type 1; dermatan sulphate proteoglycan; Ehlers-Danlos syndrome, spondylodysplastic type, 1; Ehlers-Danlos syndrome with Short stature and Limb anomalies; PDS, defective biosynthesis of; dermatan sulfate proteoglycan; proteodermatan sulfate, defective biosynthesis of; EDSSPD1; xylosylprotein 4-Beta-galactosyltransferase deficiency
Disease Hierarchy	DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density. DISFYHM7: Ehlers-Danlos syndrome, spondylodysplastic type DISJ607K: Ehlers-Danlos syndrome, spondylodysplastic type, 1
Disease Identifiers	MONDO ID MONDO_0020682 MESH ID C536201 UMLS CUI C4552003 OMIM ID 130070 MedGen ID 1646889 SNOMED CT ID 720861000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
B4GALT7	DEKRS6L	Limited	Biomarker	[1]
B4GALT7	DEKRS6L	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ESM1	OT331Y8V	Limited	Biomarker	[3]
B3GALT6	OTF4HBAT	Strong	Biomarker	[4]
PRG2	OT0BCPQG	Strong	Genetic Variation	[5]
B4GALT7	OTG5WHRW	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550.
2	A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am J Med Genet A. 2004 Jul 1;128A(1):39-45. doi: 10.1002/ajmg.a.30005.
3	Serum endocan levels in patients with stable COPD.Int J Chron Obstruct Pulmon Dis. 2018 Oct 15;13:3367-3372. doi: 10.2147/COPD.S182731. eCollection 2018.
4	Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9.
5	Expression of osteonectin, decorin, and transforming growth factor-beta 1 genes in fibroblasts cultured from patients with systemic sclerosis and morphea.J Rheumatol. 1991 Feb;18(2):247-51.