Details of Disease

General Information of Disease (ID: DISZMDJW)

Disease Name Desbuquois dysplasia 1
Synonyms
desbuquois syndrome; micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; DBQD1; Desbuquois dysplasia, Kim variant; Desbuquois dysplasia caused by mutation in CANT1; Desbuquois dysplasia 1; CANT1 Desbuquois dysplasia; Desbuquois dysplasia type 1
Definition Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.
Disease Hierarchy
DISCBF04: Desbuquois dysplasia
DISZMDJW: Desbuquois dysplasia 1
Disease Identifiers
MONDO ID
MONDO_0009629
UMLS CUI
C4012146
OMIM ID
251450
MedGen ID
860583

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
CANT1 OT1TPWQR Definitive Autosomal recessive [1]
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References

1 Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet. 2009 Nov;85(5):706-10. doi: 10.1016/j.ajhg.2009.10.001. Epub 2009 Oct 22.