Preferred Label : Orofacial cleft 1;
Symbol : OFC1;
CISMeF acronym : OFC; OFC1;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Orofacial cleft, nonsyndromic; Cleft lip/palate, nonsyndromic; Cleft lip with or without cleft palate, nonsyndromic, 1; OFC;
Description : Isolated cleft lip with or without cleft palate (CL/P) is genetically heterogeneous.
One locus, OFC1, has been mapped to chromosome 6p24. - Genetic Heterogeneity of Orofacial
Cleft Other CL/P loci have been mapped to 2p13 (OFC2; 602966), 19q13 (OFC3; 600757),
4q (OFC4; 608371), 13q33.1-q34 (OFC9; 610361), 8q24.3 (OFC12; 612858), and 1p33 (OFC13;
613857). OFC5 (608874) is caused by mutation in the MSX1 gene (142983) on 4p16.1;
OFC6 (608864) is associated with variation in an enhancer of the IRF6 gene (607199)
on 1q; OFC7 is associated with mutation in the PVRL1 gene (600644) on 11q; OFC8 (see
129400) is caused by mutation in the TP63 gene (603273) on 3q27; and OFC11 (600625)
is caused by mutation in the BMP4 gene (112262) on 14q22. OFC10 is associated with
haploinsufficiency of the SUMO1 gene (601912). A common polymorphism in the MTR gene
(156570.0008) has been associated with susceptibility to orofacial clefting. Cleft
lip with or without cleft palate has been found in association with gastric cancer
(see 137215) in individuals with mutation in the CDH1 gene (192090).;
Inheritance : Autosomal dominant;
Prefixed ID : %119530;
Origin ID : 119530;
UMLS CUI : C1861537;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
