KEGG   DISEASE: Oblique facial cleft
Entry
H02202                      Disease                                
Name
Oblique facial cleft
Description
Oblique facial cleft is a rare and severe congenital facial malformation. It has shown that loss-of-function mutations in SPECC1L are pathogenic for this disease. SPECC1L encodes a cytoskeletal protein, and its deficiency results in defective cell adhesion and migration.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the face, mouth or teeth
    LA51  Facial clefts
     H02202  Oblique facial cleft
Gene
SPECC1L [HSA:23384] [KO:K23028]
Other DBs
ICD-11: LA51
MeSH: C537736
OMIM: 600251
Reference
PMID:21703590
  Authors
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL
  Title
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
  Journal
Am J Hum Genet 89:44-55 (2011)
DOI:10.1016/j.ajhg.2011.05.023
Reference
PMID:25357034
  Authors
Gfrerer L, Shubinets V, Hoyos T, Kong Y, Nguyen C, Pietschmann P, Morton CC, Maas RL, Liao EC
  Title
Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.
  Journal
Plast Reconstr Surg 134:748-59 (2014)
DOI:10.1097/PRS.0000000000000517
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