OFC8
MCID: ORF016
MIFTS: 26

Orofacial Cleft 8 (OFC8)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 8

MalaCards integrated aliases for Orofacial Cleft 8:

Name: Orofacial Cleft 8 56 12 73 29 6 15
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 8 56 73
Ofc8 56 73
Non-Syndromic Cleft Lip with or Without Cleft Palate 8 73
Non-Syndromic Cleft Lip/palate 8 73
Orofacial Cleft, Type 8 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0080401
OMIM 56 618149
OMIM Phenotypic Series 56 PS119530
MeSH 43 D002971

Summaries for Orofacial Cleft 8

UniProtKB/Swiss-Prot : 73 Orofacial cleft 8: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

MalaCards based summary : Orofacial Cleft 8, also known as cleft lip with or without cleft palate, nonsyndromic, 8, is related to rapp-hodgkin syndrome and reticular dysgenesis. An important gene associated with Orofacial Cleft 8 is TP63 (Tumor Protein P63). Related phenotype is digestive/alimentary.

Disease Ontology : 12 An orofacial cleft that has material basis in heterozygous mutation in the TP63 gene on chromosome 3q28.

OMIM : 56 Orofacial cleft-8 (OFC8) is characterized by unilateral or bilateral cleft lip (Leoyklang et al., 2006; Basha et al., 2018). (618149)

Related Diseases for Orofacial Cleft 8

Graphical network of the top 20 diseases related to Orofacial Cleft 8:



Diseases related to Orofacial Cleft 8

Symptoms & Phenotypes for Orofacial Cleft 8

Clinical features from OMIM:

618149

MGI Mouse Phenotypes related to Orofacial Cleft 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.02 GBP3 P2RY14 PIGR SNCA TP63

Drugs & Therapeutics for Orofacial Cleft 8

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 8

Genetic Tests for Orofacial Cleft 8

Genetic tests related to Orofacial Cleft 8:

# Genetic test Affiliating Genes
1 Orofacial Cleft 8 29

Anatomical Context for Orofacial Cleft 8

Publications for Orofacial Cleft 8

Articles related to Orofacial Cleft 8:

# Title Authors PMID Year
1
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes. 56 6
29500247 2018
2
A mutation of the p63 gene in non-syndromic cleft lip. 56 6
16740912 2006
3
TP63-Related Disorders 61
20556892 2010

Variations for Orofacial Cleft 8

ClinVar genetic disease variations for Orofacial Cleft 8:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TP63 NM_003722.5(TP63):c.1054A>G (p.Arg352Gly)SNV Pathogenic 6547 rs121908847 3:189586430-189586430 3:189868641-189868641
2 TP63 NM_003722.5(TP63):c.819_820dup (p.Gln274fs)duplication Pathogenic 585267 rs1560277554 3:189584521-189584522 3:189866732-189866733
3 TP63 NM_003722.5(TP63):c.63-1G>CSNV Uncertain significance 632415 rs200607940 3:189455528-189455528 3:189737739-189737739

UniProtKB/Swiss-Prot genetic disease variations for Orofacial Cleft 8:

73
# Symbol AA change Variation ID SNP ID
1 TP63 p.Arg352Gly VAR_035127 rs121908847

Expression for Orofacial Cleft 8

Search GEO for disease gene expression data for Orofacial Cleft 8.

Pathways for Orofacial Cleft 8

GO Terms for Orofacial Cleft 8

Cellular components related to Orofacial Cleft 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.1 TNFAIP6 STAG3 SNCA PLA1A PIGR LTF
2 tertiary granule lumen GO:1904724 8.96 TNFAIP6 LTF

Biological processes related to Orofacial Cleft 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of osteoblast differentiation GO:0045669 9.46 TP63 LTF
2 nucleobase-containing compound metabolic process GO:0006139 9.43 AK4 AK3
3 positive regulation of protein serine/threonine kinase activity GO:0071902 9.4 SNCA LTF
4 retina homeostasis GO:0001895 9.37 PIGR LTF
5 protein tetramerization GO:0051262 9.32 TP63 SNCA
6 GTP metabolic process GO:0046039 9.26 AK4 AK3
7 nucleoside monophosphate phosphorylation GO:0046940 9.16 AK4 AK3
8 AMP metabolic process GO:0046033 8.96 AK4 AK3
9 ADP biosynthetic process GO:0006172 8.62 AK4 AK3

Molecular functions related to Orofacial Cleft 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.62 GBP3 GBP1 AK4 AK3
2 nucleobase-containing compound kinase activity GO:0019205 9.26 AK4 AK3
3 adenylate kinase activity GO:0004017 9.16 AK4 AK3
4 phosphotransferase activity, phosphate group as acceptor GO:0016776 8.96 AK4 AK3
5 nucleoside triphosphate adenylate kinase activity GO:0046899 8.62 AK4 AK3

Sources for Orofacial Cleft 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....