Details of Disease | DrugMAP

General Information of Disease (ID: DISJX1JQ)

Disease Name	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Synonyms	CFSMR; cerebro facio thoracic dysplasia; pascual-Castroviejo syndrome; pascual-Castroviejo syndrome type 1; cerebrofaciothoracic dysplasia; CFSMR1
Definition	Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.
Disease Hierarchy	DIS840H2: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome DISJX1JQ: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
Disease Identifiers	MONDO ID MONDO_0800436 UMLS CUI C5677021 OMIM ID 213980 MedGen ID 1808104 Orphanet ID 1394

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
TMCO1	OTSME34W	Definitive	Autosomal recessive	[1]
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References

1	Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. doi: 10.1073/pnas.0908457107. Epub 2009 Dec 14.