Details of Disease

General Information of Disease (ID: DIS7SW2F)

Disease Name Cerebrocostomandibular syndrome
Synonyms cerebro-costo-mandibular syndrome; rib Gap defects with micrognathia; CEREBROCOSTOMANDIBULAR syndrome; CCMS; CCM syndrome; cerebrocostomandibular syndrome
Definition
Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DIS6SVEE: Syndromic disease
DIS5Z8U6: Skeletal dysplasia
DIS7SW2F: Cerebrocostomandibular syndrome
Disease Identifiers
MONDO ID
MONDO_0007301
MESH ID
C562538
UMLS CUI
C0265342
OMIM ID
117650
MedGen ID
120537
Orphanet ID
1393
SNOMED CT ID
51780007

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
COG1 OT3JSAF7 Strong Genetic Variation [1]
SNRPB OT3UJ4ZU Strong Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.Hum Mol Genet. 2009 Feb 1;18(3):517-24. doi: 10.1093/hmg/ddn379. Epub 2008 Nov 13.
2 Differential host range of viruses of feline leukemia-sarcoma complex. Virology. 1975 Apr;64(2):438-46. doi: 10.1016/0042-6822(75)90121-x.