Details of Disease

General Information of Disease (ID: DISUGPNI)

Disease Name Tessier number 4 facial cleft
Synonyms facial clefting, oblique, 1; OBLFC1; oculomaxillofacial dysplasia with oblique Facial clefts; facial clefting, oblique, type 1
Disease Hierarchy
DISG9E1R: Oculomaxillofacial dysostosis
DISUGPNI: Tessier number 4 facial cleft
Disease Identifiers
MONDO ID
MONDO_0010850
UMLS CUI
C4703420
MedGen ID
1642051
HPO ID
HP:0031576
Orphanet ID
141258

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
SPECC1L OT3WGZ73 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. Am J Hum Genet. 2011 Jul 15;89(1):44-55. doi: 10.1016/j.ajhg.2011.05.023. Epub 2011 Jun 23.