OFC8
MCID: ORF016
MIFTS: 10

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 57 29 13 6
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 8 57
Ofc8 57

Classifications:



External Ids:

OMIM 57 618149

Summaries for Orofacial Cleft 8

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).

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 12.0

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 29

Anatomical Context for Orofacial Cleft 8

Publications for Orofacial Cleft 8

Variations for Orofacial Cleft 8

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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