OFC4
MCID: ORF023
MIFTS: 24

Orofacial Cleft 4 (OFC4)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 4

MalaCards integrated aliases for Orofacial Cleft 4:

Name: Orofacial Cleft 4 57 12 13 15 70
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 4 57
Nonsyndromic Cleft Lip with or Without Cleft Palate 4 12
Ofc4 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0080398
OMIM® 57 608371
OMIM Phenotypic Series 57 PS119530
MedGen 41 C1842143
UMLS 70 C1842143

Summaries for Orofacial Cleft 4

Disease Ontology : 12 An orofacial cleft that has material basis in variation in the 4q21-q31 chromosomal region.

MalaCards based summary : Orofacial Cleft 4, also known as cleft lip with or without cleft palate, nonsyndromic, 4, is related to orofacial cleft and split-hand/foot malformation 1. An important gene associated with Orofacial Cleft 4 is OFC4 (Orofacial Cleft 4), and among its related pathways/superpathways is TP53 Network. Related phenotypes are craniofacial and digestive/alimentary

More information from OMIM: 608371 PS119530

Related Diseases for Orofacial Cleft 4

Graphical network of the top 20 diseases related to Orofacial Cleft 4:



Diseases related to Orofacial Cleft 4

Symptoms & Phenotypes for Orofacial Cleft 4

Clinical features from OMIM®:

608371 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Orofacial Cleft 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 DLX6 NOTCH1 SUMO1 TP63
2 digestive/alimentary MP:0005381 9.02 DLX6 NOTCH1 SUMO1 TP63 WNT10B

Drugs & Therapeutics for Orofacial Cleft 4

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 4

Genetic Tests for Orofacial Cleft 4

Anatomical Context for Orofacial Cleft 4

Publications for Orofacial Cleft 4

Articles related to Orofacial Cleft 4:

# Title Authors PMID Year
1
Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip. 57
12727354 2003
2
Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families. 57
12087515 2002
3
Possible localization of a major gene for cleft lip and palate to 4q. 57
7820940 1994
4
Comparison of Cervical Spine Anatomy in Calves, Pigs and Humans. 61
26866593 2016
5
Human genetic factors in nonsyndromic cleft lip and palate: an update. 61
17606301 2007

Variations for Orofacial Cleft 4

Expression for Orofacial Cleft 4

Search GEO for disease gene expression data for Orofacial Cleft 4.

Pathways for Orofacial Cleft 4

Pathways related to Orofacial Cleft 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
9.97 TP63 SUMO1

GO Terms for Orofacial Cleft 4

Biological processes related to Orofacial Cleft 4 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.85 TP63 SUMO1 NOTCH1 DLX6
2 multicellular organism development GO:0007275 9.76 WNT10B TP63 NOTCH1 DLX6
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.62 WNT10B TP63 SUMO1 NOTCH1
4 epidermis development GO:0008544 9.56 TP63 NOTCH1
5 epithelial cell differentiation GO:0030855 9.54 TP63 DLX6
6 positive regulation of osteoblast differentiation GO:0045669 9.52 WNT10B TP63
7 cell fate commitment GO:0045165 9.51 WNT10B NOTCH1
8 roof of mouth development GO:0060021 9.49 SUMO1 DLX6
9 positive regulation of epithelial cell proliferation GO:0050679 9.48 NOTCH1 DLX6
10 keratinocyte differentiation GO:0030216 9.43 TP63 NOTCH1
11 positive regulation of Notch signaling pathway GO:0045747 9.4 TP63 NOTCH1
12 negative regulation of cold-induced thermogenesis GO:0120163 9.37 WNT10B NOTCH1
13 embryonic hindlimb morphogenesis GO:0035116 9.26 TP63 NOTCH1
14 hair follicle morphogenesis GO:0031069 9.16 TP63 NOTCH1
15 anatomical structure formation involved in morphogenesis GO:0048646 8.96 TP63 DLX6
16 embryonic limb morphogenesis GO:0030326 8.8 TP63 NOTCH1 DLX6

Sources for Orofacial Cleft 4

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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