OFC5
MCID: ORF014
MIFTS: 20

Orofacial Cleft 5 (OFC5) malady

Categories: Genetic diseases, Fetal diseases, Rare diseases, Oral diseases

Aliases & Classifications for Orofacial Cleft 5

Aliases & Descriptions for Orofacial Cleft 5:

Name: Orofacial Cleft 5 54 24 66 29 13 69
Non-Syndromic Cleft Lip with or Without Cleft Palate 5 66
Nonsyndromic Cleft Lip with or Without Cleft Palate 5 24
Non-Syndromic Cleft Lip/palate 5 66
Non-Syndromic Orofacial Cleft 5 66
Ofc5 66

Characteristics:

HPO:

32
orofacial cleft 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608874
MedGen 40 C1837210
MeSH 42 D002971

Summaries for Orofacial Cleft 5

UniProtKB/Swiss-Prot : 66 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 non-syndromic cleft lip with or without cleft palate 5, and has symptoms including cleft palate and cleft upper lip. An important gene associated with Orofacial Cleft 5 is MSX1 (Msh Homeobox 1). The drugs Ethanol and Folic Acid have been mentioned in the context of this disorder.

Description from OMIM: 608874

Related Diseases for Orofacial Cleft 5

Symptoms & Phenotypes for Orofacial Cleft 5

Clinical features from OMIM:

608874

Human phenotypes related to Orofacial Cleft 5:

32
id Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 cleft upper lip 32 HP:0000204

Drugs & Therapeutics for Orofacial Cleft 5

Drugs for Orofacial Cleft 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702
2
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
4 Vitamin B Complex
5 Folate Nutraceutical
6 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068
2 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638

Search NIH Clinical Center for Orofacial Cleft 5

Genetic Tests for Orofacial Cleft 5

Genetic tests related to Orofacial Cleft 5:

id Genetic test Affiliating Genes
1 Orofacial Cleft 5 29 24 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:

66
id 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
id 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.365G> A (p.Gly122Glu) single nucleotide variant Pathogenic rs28933081 GRCh37 Chromosome 4, 4861991: 4861991
3 MSX1 NM_002448.3(MSX1): c.458C> A (p.Pro153Gln) single nucleotide variant Pathogenic rs104893854 GRCh37 Chromosome 4, 4862084: 4862084

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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