OFC5
MCID: ORF014
MIFTS: 16

Orofacial Cleft 5 (OFC5)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 5

MalaCards integrated aliases for Orofacial Cleft 5:

Name: Orofacial Cleft 5 58 12 76 30 13 6 74
Ofc5 58 76
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 5 58
Non-Syndromic Cleft Lip with or Without Cleft Palate 5 76
Nonsyndromic Cleft Lip with or Without Cleft Palate 5 12
Non-Syndromic Cleft Lip/palate 5 76
Non-Syndromic Orofacial Cleft 5 76
Orofacial Cleft, Type 5 41

Characteristics:

HPO:

33
orofacial cleft 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080399
OMIM 58 608874
MeSH 45 D002971
MedGen 43 C1837210
UMLS 74 C1837210

Summaries for Orofacial Cleft 5

UniProtKB/Swiss-Prot : 76 Non-syndromic orofacial cleft 5: 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 5, is also known as ofc5. An important gene associated with Orofacial Cleft 5 is MSX1 (Msh Homeobox 1). Related phenotypes are cleft palate and cleft upper lip

Disease Ontology : 12 An orofacial cleft that has material basis in mutation in the MSX1 gene on chromosome 4p16.

Description from OMIM: 608874

Related Diseases for Orofacial Cleft 5

Symptoms & Phenotypes for Orofacial Cleft 5

Human phenotypes related to Orofacial Cleft 5:

33
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 HP:0000175
2 cleft upper lip 33 HP:0000204

Clinical features from OMIM:

608874

Drugs & Therapeutics for Orofacial Cleft 5

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 5

Genetic Tests for Orofacial Cleft 5

Genetic tests related to Orofacial Cleft 5:

# Genetic test Affiliating Genes
1 Orofacial Cleft 5 30 MSX1

Anatomical Context for Orofacial Cleft 5

Publications for Orofacial Cleft 5

Variations for Orofacial Cleft 5

UniProtKB/Swiss-Prot genetic disease variations for Orofacial Cleft 5:

76
# Symbol AA change Variation ID SNP ID
1 MSX1 p.Glu84Val VAR_018391 rs28928890
2 MSX1 p.Gly97Asp VAR_018392
3 MSX1 p.Val120Gly VAR_018393 rs759548721
4 MSX1 p.Gly122Glu VAR_018394 rs28933081
5 MSX1 p.Arg157Ser VAR_018395 rs150284621

ClinVar genetic disease variations for Orofacial Cleft 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MSX1 NM_002448.3(MSX1): c.251A> T (p.Glu84Val) single nucleotide variant Pathogenic rs28928890 GRCh37 Chromosome 4, 4861877: 4861877
2 MSX1 NM_002448.3(MSX1): c.251A> T (p.Glu84Val) single nucleotide variant Pathogenic rs28928890 GRCh38 Chromosome 4, 4860150: 4860150
3 MSX1 NM_002448.3(MSX1): c.365G> A (p.Gly122Glu) single nucleotide variant Pathogenic rs28933081 GRCh37 Chromosome 4, 4861991: 4861991
4 MSX1 NM_002448.3(MSX1): c.365G> A (p.Gly122Glu) single nucleotide variant Pathogenic rs28933081 GRCh38 Chromosome 4, 4860264: 4860264
5 MSX1 NM_002448.3(MSX1): c.458C> A (p.Pro153Gln) single nucleotide variant Pathogenic rs104893854 GRCh37 Chromosome 4, 4862084: 4862084
6 MSX1 NM_002448.3(MSX1): c.458C> A (p.Pro153Gln) single nucleotide variant Pathogenic rs104893854 GRCh38 Chromosome 4, 4860357: 4860357
7 MSX1 NM_002448.3(MSX1): c.471G> T (p.Arg157Ser) single nucleotide variant Uncertain significance rs150284621 GRCh38 Chromosome 4, 4862702: 4862702
8 MSX1 NM_002448.3(MSX1): c.471G> T (p.Arg157Ser) single nucleotide variant Uncertain significance rs150284621 GRCh37 Chromosome 4, 4864429: 4864429

Expression for Orofacial Cleft 5

Search GEO for disease gene expression data for Orofacial Cleft 5.

Pathways for Orofacial Cleft 5

GO Terms for Orofacial Cleft 5

Sources for Orofacial Cleft 5

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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