Details of Disease

General Information of Disease (ID: DISZTO2J)

Disease Name Toriello-Carey syndrome
Synonyms
agenesis of corpus callosum with facial anomalies and Robin sequence; corpus callosum agenesis facial anomalies Robin sequence; corpus callosum, agenesis of, with facial anomalies and ROBIN sequence; Toriello-Carey syndrome; corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
Definition Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DISZTO2J: Toriello-Carey syndrome
Disease Identifiers
MONDO ID
MONDO_0009021
MESH ID
C563127
UMLS CUI
C0796184
OMIM ID
217980
MedGen ID
163225
Orphanet ID
3338
SNOMED CT ID
722477003

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
DDX3X OTDO4TRX Supportive Autosomal recessive [1]
PGAP3 OTH9A75E Strong Biomarker [2]
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References

1 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. Am J Med Genet A. 2017 May;173(5):1369-1373. doi: 10.1002/ajmg.a.38164. Epub 2017 Mar 29.
2 Expanding the phenome and variome of skeletal dysplasia. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5.