OFC3
MCID: ORF049
MIFTS: 19

Orofacial Cleft 3 (OFC3)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 3

MalaCards integrated aliases for Orofacial Cleft 3:

Name: Orofacial Cleft 3 57 12 70
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 3 57
Nonsyndromic Cleft Lip with or Without Cleft Palate 3 12
Orofacial Cleft-3 13
Ofc3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
? autosomal dominant (19q13)


HPO:

31
orofacial cleft 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080397
OMIM® 57 600757
OMIM Phenotypic Series 57 PS119530
MedGen 41 C1833369
UMLS 70 C1833369

Summaries for Orofacial Cleft 3

Disease Ontology : 12 An orofacial cleft that has material basis in variation in the chromosomal region 19q13.

MalaCards based summary : Orofacial Cleft 3, also known as cleft lip with or without cleft palate, nonsyndromic, 3, is related to orofacial cleft and cleft palate, isolated. An important gene associated with Orofacial Cleft 3 is OFC3 (Orofacial Cleft 3). Affiliated tissues include brain and lung, and related phenotype is abnormality of the face.

More information from OMIM: 600757 PS119530

Related Diseases for Orofacial Cleft 3

Diseases in the Orofacial Cleft family:

Orofacial Cleft 1 Orofacial Cleft 11
Orofacial Cleft 3 Orofacial Cleft 2
Orofacial Cleft 4 Orofacial Cleft 6
Orofacial Cleft 5 Orofacial Cleft 9
Orofacial Cleft 12 Orofacial Cleft 10
Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 15 Orofacial Cleft 8

Diseases related to Orofacial Cleft 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofacial cleft 10.9
2 cleft palate, isolated 9.9
3 ectodermal dysplasia 9.9

Symptoms & Phenotypes for Orofacial Cleft 3

Human phenotypes related to Orofacial Cleft 3:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the face 31 HP:0000271

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Facies:
orofacial cleft

Clinical features from OMIM®:

600757 (Updated 05-Apr-2021)

Drugs & Therapeutics for Orofacial Cleft 3

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 3

Genetic Tests for Orofacial Cleft 3

Anatomical Context for Orofacial Cleft 3

MalaCards organs/tissues related to Orofacial Cleft 3:

40
Brain, Lung

Publications for Orofacial Cleft 3

Articles related to Orofacial Cleft 3:

(show all 13)
# Title Authors PMID Year
1
Genetic evidence for the role of loci at 19q13 in cleft lip and palate. 57
16740910 2006
2
Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families. 57
9003487 1997
3
Nonsyndromic cleft lip with or without cleft palate: new BCL3 information. 57
8751880 1996
4
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. 57
7668251 1995
5
[Analysis of Post-Recurrence Survival of Resected Lung Cancer with Brain Metastasis]. 61
32156903 2019
6
Dorsomorphin promotes survival and germline competence of zebrafish spermatogonial stem cells in culture. 61
23936500 2013
7
Association analysis of the poliovirus receptor related-2 gene in patients with nonsyndromic cleft lip with or without cleft palate. 61
20662561 2010
8
Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate. 61
21637507 2009
9
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 61
18471249 2008
10
Human genetic factors in nonsyndromic cleft lip and palate: an update. 61
17606301 2007
11
Linkage disequilibrium analysis of two genes mapping on OFC3: PVR and PVRL2. 61
17534374 2007
12
[The genetics of labio-palatal clefts]. 61
11577471 2001
13
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 3

Expression for Orofacial Cleft 3

Search GEO for disease gene expression data for Orofacial Cleft 3.

Pathways for Orofacial Cleft 3

GO Terms for Orofacial Cleft 3

Sources for Orofacial Cleft 3

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
Content
Loading form....