Details of Disease | DrugMAP

General Information of Disease (ID: DISCOG8O)

Disease Name	Chondrodysplasia with joint dislocations, gPAPP type
Synonyms	gPAPP deficiency; chondrodysplasia with joint dislocations, gPAPP type
Disease Hierarchy	DISO5FAY: Inborn error of metabolism DISPPN0O: Musculoskeletal disorder DISV96AT: Mineral metabolism disease DISCOG8O: Chondrodysplasia with joint dislocations, gPAPP type
Disease Identifiers	MONDO ID MONDO_0013561 UMLS CUI C3279757 OMIM ID 614078 MedGen ID 481387 Orphanet ID 280586 SNOMED CT ID 782882009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CANT1	OT1TPWQR	Strong	Genetic Variation	[1]
BPNT2	OT65C86U	Definitive	Autosomal recessive	[2]
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References

1	IMPAD1 mutations in two Catel-Manzke like patients.Am J Med Genet A. 2012 Sep;158A(9):2183-7. doi: 10.1002/ajmg.a.35504. Epub 2012 Aug 6.
2	Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet. 2011 May 13;88(5):608-15. doi: 10.1016/j.ajhg.2011.04.002. Epub 2011 May 5.