OFC8
MCID: ORF016
MIFTS: 16

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 58 12 76 30 13 6
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 8 58 76
Ofc8 58 76
Non-Syndromic Cleft Lip with or Without Cleft Palate 8 76
Non-Syndromic Cleft Lip/palate 8 76
Orofacial Cleft, Type 8 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0080401
OMIM 58 618149
MeSH 45 D002971

Summaries for Orofacial Cleft 8

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Orofacial Cleft 8 is TP63 (Tumor Protein P63).

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

Description from OMIM: 618149

Related Diseases for Orofacial Cleft 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rapp-hodgkin syndrome 11.3

Symptoms & Phenotypes for Orofacial Cleft 8

Clinical features from OMIM:

618149

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 30

Anatomical Context for Orofacial Cleft 8

Publications for Orofacial Cleft 8

Articles related to Orofacial Cleft 8:

# Title Authors 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. ( 29500247 )
2018
2
A mutation of the p63 gene in non-syndromic cleft lip. ( 16740912 )
2006

Variations for Orofacial Cleft 8

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

76
# Symbol AA change Variation ID SNP ID
1 TP63 p.Arg352Gly VAR_035127 rs121908847

ClinVar genetic disease variations for Orofacial Cleft 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh37 Chromosome 3, 189586430: 189586430
2 TP63 NM_003722.4(TP63): c.1054A> G (p.Arg352Gly) single nucleotide variant Pathogenic rs121908847 GRCh38 Chromosome 3, 189868641: 189868641
3 TP63 NM_001114978.1(TP63): c.819_820dup (p.Gln274Profs) duplication Pathogenic GRCh38 Chromosome 3, 189866734: 189866735
4 TP63 NM_001114978.1(TP63): c.819_820dup (p.Gln274Profs) duplication Pathogenic GRCh37 Chromosome 3, 189584523: 189584524

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

Sources for Orofacial Cleft 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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