Details of Disease | DrugMAP

General Information of Disease (ID: DISI9W4I)

Disease Name	Hypertrichotic osteochondrodysplasia Cantu type
Synonyms	hypertrichotic osteochondrodysplasia, Cantu type; hypertrichotic osteochondrodysplasia; Craniofaciocardioskeletal syndrome; Cantu syndrome; hypertrichotic osteochondrodysplasia (Cantu syndrome)
Definition	Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DIS6SVEE: Syndromic disease DIS9SPWW: Osteochondrodysplasia DISYKSRF: Genetic disease DISI9W4I: Hypertrichotic osteochondrodysplasia Cantu type
Disease Identifiers	MONDO ID MONDO_0009406 MESH ID C535572 UMLS CUI C0795905 OMIM ID 239850 MedGen ID 208647 Orphanet ID 1517 SNOMED CT ID 239087008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC9	DT3JCE6	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MED23	OTKZQT0R	moderate	Genetic Variation	[2]
KCNJ8	OTZ8G8FE	Strong	Autosomal dominant	[3]
ABCC9	OTGAXLQN	Definitive	Autosomal dominant	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2	Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity.J Clin Invest. 2020 Mar 2;130(3):1116-1121. doi: 10.1172/JCI130571.
3	Mutation of KCNJ8 in a patient with Cant syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28.