Details of Disease

General Information of Disease (ID: DISFYHM7)

• Disease Name: Ehlers-Danlos syndrome, spondylodysplastic type
• Synonyms: Ehlers-Danlos syndrome, progeroid type (former); Ehlers-Danlos syndrome, progeroid type; spondylodysplastic Ehlers-Danlos syndrome; galactosyltransferase 1 deficiency; XGPT deficiency; dermatan sulphate proteoglycan; xylosylprotein 4-beta-galactosyltransferase deficiency; Ehlers-Danlos syndrome, spondylodysplastic type, 1; Pds, defective biosynthesis of; Ehlers-Danlos syndrome with short stature and limb anomalies; dermatan sulfate proteoglycan; proteodermatan sulfate, defective biosynthesis of; EDSSPD1; B4GALT7-CDG; Ehlers-Danlos syndrome progeroid type; defective biosynthesis of proteodermatan sulfate; PDS; defective biosynthesis of proteodermatan sulphate; galactosyltransferase I deficiency; EDS, progeroid type
• Definition: A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.
• Disease Hierarchy:
  DISSVBRR: Ehlers-Danlos syndrome
  DISO5FAY: Inborn error of metabolism
  DISMFQKM: Developmental anomaly of metabolic origin
  DISFYHM7: Ehlers-Danlos syndrome, spondylodysplastic type

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
B4GALT7	DEKRS6L	Supportive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
B4GALT7	OTG5WHRW	Supportive	Autosomal recessive	[1]

References

• [1] 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.