Details of Disease

General Information of Disease (ID: DIS26XB7)

Disease Name Desbuquois dysplasia 2
Synonyms DBQD2; Desbuquois dysplasia type 2; Desbuquois dysplasia caused by mutation in XYLT1; Baratela-Scott syndrome; XYLT1 Desbuquois dysplasia; Desbuquois dysplasia 2
Definition Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.
Disease Hierarchy
DISCBF04: Desbuquois dysplasia
DIS26XB7: Desbuquois dysplasia 2
Disease Identifiers
MONDO ID
MONDO_0014343
UMLS CUI
C4014294
OMIM ID
615777
MedGen ID
862731

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 Strong Autosomal recessive [1]
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References

1 GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.