OFC2
MCID: ORF050
MIFTS: 19

Orofacial Cleft 2 (OFC2)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 2

MalaCards integrated aliases for Orofacial Cleft 2:

Name: Orofacial Cleft 2 57 12 70
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 2 57
Nonsyndromic Cleft Lip with or Without Cleft Palate 2 12
Otofaciocervical Syndrome 2 70
Orofacial Cleft-2 13
Ofc2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on gwas studies


Classifications:



External Ids:

Disease Ontology 12 DOID:0080396
OMIM® 57 602966
OMIM Phenotypic Series 57 PS119530
MedGen 41 C1864323
UMLS 70 C1864323 C3714942

Summaries for Orofacial Cleft 2

Disease Ontology : 12 An orofacial cleft that has material basis in variation in the chromosome region 2p13.

MalaCards based summary : Orofacial Cleft 2, also known as cleft lip with or without cleft palate, nonsyndromic, 2, is related to otofaciocervical syndrome 2 and orofacial cleft. An important gene associated with Orofacial Cleft 2 is OFC2 (Orofacial Cleft 2).

More information from OMIM: 602966 PS119530

Related Diseases for Orofacial Cleft 2

Graphical network of the top 20 diseases related to Orofacial Cleft 2:



Diseases related to Orofacial Cleft 2

Symptoms & Phenotypes for Orofacial Cleft 2

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate
cleft lip
cleft lip and palate

Clinical features from OMIM®:

602966 (Updated 05-Apr-2021)

Drugs & Therapeutics for Orofacial Cleft 2

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 2

Genetic Tests for Orofacial Cleft 2

Anatomical Context for Orofacial Cleft 2

Publications for Orofacial Cleft 2

Articles related to Orofacial Cleft 2:

(show all 21)
# Title Authors PMID Year
1
A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation. 61 57
9676424 1998
2
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. 57
19444471 2009
3
Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate. 57
9244439 1997
4
Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal. 57
9181353 1997
5
Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. 57
8644715 1996
6
Nonsyndromic cleft lip and palate: evidence of linkage to a microsatellite marker on 6p23. 57
7825597 1995
7
Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). 57
8105683 1993
8
Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip. 57
8096116 1993
9
Resolving an apparent paradox concerning the role of TGFA in CL/P. 57
8094269 1993
10
Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. 57
1361101 1992
11
Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. 57
1352354 1992
12
No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. 57
1352355 1992
13
Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. 57
1679292 1991
14
Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate. 57
1673285 1991
15
Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. 57
2570526 1989
16
CRISPR-Mediated Knockout of the ABCC2 Gene in Ostrinia furnacalis Confers High-Level Resistance to the Bacillus thuringiensis Cry1Fa Toxin. 61
32290427 2020
17
The promising role of PAX1 (aliases: HUP48, OFC2) gene methylation in cancer screening. 61
30636379 2019
18
Evidence-Based Medicine: Cleft Palate. 61
28027255 2017
19
Human genetic factors in nonsyndromic cleft lip and palate: an update. 61
17606301 2007
20
[The genetics of labio-palatal clefts]. 61
11577471 2001
21
Genetics of nonsyndromic cleft lip and palate: a review of international studies and data regarding the Italian population. 61
10670887 2000

Variations for Orofacial Cleft 2

Expression for Orofacial Cleft 2

Search GEO for disease gene expression data for Orofacial Cleft 2.

Pathways for Orofacial Cleft 2

GO Terms for Orofacial Cleft 2

Sources for Orofacial Cleft 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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