OROFACIAL CLEFT 6, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6
OFC6
Number of Symptoms 9
OrphanetNr:
OMIM Id: 608864
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Polygenic inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000204) Cleft upper lip 193 / 7739
2
(HPO:0000176) Submucous cleft hard palate 19 / 7739
3
(HPO:0000193) Bifid uvula 66 / 7739
4
(HPO:0000175) Cleft palate 349 / 7739
5
(HPO:0000202) Oral cleft 120 / 7739
6
(HPO:0000185) Cleft soft palate 18 / 7739
7
(HPO:0011819) Submucous cleft soft palate 12 / 7739
8
(HPO:0010982) Polygenic inheritance 14 / 7739
9
(OMIM) Cleft lip, isolated 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Rahimov et al. (2008) found that the A allele of a common SNP (dbSNP rs642961, G-A) in an IRF6 enhancer within the 5-prime untranslated region of the IRF6 gene was significantly overtransmitted (p = 1 x 10(-11)) in ...