Details of Disease

General Information of Disease (ID: DISV90RW)

Disease Name XYLT1-congenital disorder of glycosylation
Synonyms XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation; XYLT18-CDG; XYLT1-congenital disorder of glycosylation
Disease Hierarchy
DISMFQKM: Developmental anomaly of metabolic origin
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DIS400QP: Congenital disorder of glycosylation
DISV90RW: XYLT1-congenital disorder of glycosylation
Disease Identifiers
MONDO ID
MONDO_0018273
UMLS CUI
C4750849
MedGen ID
1659170
Orphanet ID
370930
SNOMED CT ID
773418007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
XYLT1 OTWQGPPY Supportive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum Genet. 2014 Jan;133(1):29-39. doi: 10.1007/s00439-013-1351-y. Epub 2013 Aug 27.