OFC5
MCID: ORF014
MIFTS: 21

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 57 12 72 29 13 6 70
Ofc5 57 72
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 5 57
Non-Syndromic Cleft Lip with or Without Cleft Palate 5 72
Nonsyndromic Cleft Lip with or Without Cleft Palate 5 12
Non-Syndromic Cleft Lip/palate 5 72
Non-Syndromic Orofacial Cleft 5 72
Orofacial Cleft, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
orofacial cleft 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080399
OMIM® 57 608874
OMIM Phenotypic Series 57 PS119530
MeSH 44 D002971
MedGen 41 C1837210
UMLS 70 C1837210

Summaries for Orofacial Cleft 5

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 608874 PS119530

Related Diseases for Orofacial Cleft 5

Symptoms & Phenotypes for Orofacial Cleft 5

Human phenotypes related to Orofacial Cleft 5:

31
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 cleft upper lip 31 HP:0000204

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate, isolated
cleft lip and palate, unilateral or bilateral

Clinical features from OMIM®:

608874 (Updated 05-Apr-2021)

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 29 MSX1

Anatomical Context for Orofacial Cleft 5

Publications for Orofacial Cleft 5

Articles related to Orofacial Cleft 5:

# Title Authors PMID Year
1
MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. 6 57
16868654 2006
2
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. 57 6
16327884 2005
3
In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. 57 6
15354328 2004
4
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. 57 6
12807959 2003
5
Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate. 57
11810291 2002
6
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. 57
10742093 2000
7
Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. 57
9683588 1998
8
Human genetic factors in nonsyndromic cleft lip and palate: an update. 61
17606301 2007

Variations for Orofacial Cleft 5

ClinVar genetic disease variations for Orofacial Cleft 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSX1 NM_002448.3(MSX1):c.251A>T (p.Glu84Val) SNV Pathogenic 14883 rs28928890 GRCh37: 4:4861877-4861877
GRCh38: 4:4860150-4860150
2 MSX1 NM_002448.3(MSX1):c.365G>A (p.Gly122Glu) SNV Pathogenic 14884 rs28933081 GRCh37: 4:4861991-4861991
GRCh38: 4:4860264-4860264
3 MSX1 NM_002448.3(MSX1):c.458C>A (p.Pro153Gln) SNV Pathogenic 14885 rs104893854 GRCh37: 4:4862084-4862084
GRCh38: 4:4860357-4860357
4 MSX1 NM_002448.3(MSX1):c.471G>T (p.Arg157Ser) SNV Uncertain significance 225414 rs150284621 GRCh37: 4:4864429-4864429
GRCh38: 4:4862702-4862702

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

72
# 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

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
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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