MCID: ORF014
MIFTS: 16

Orofacial Cleft 5

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Orofacial Cleft 5

MalaCards integrated aliases for Orofacial Cleft 5:

Name: Orofacial Cleft 5 53 71 28 13 69
Ofc5 53 71
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 5 53
Non-Syndromic Cleft Lip with or Without Cleft Palate 5 71
Non-Syndromic Cleft Lip/palate 5 71
Non-Syndromic Orofacial Cleft 5 71

Characteristics:

HPO:

31
orofacial cleft 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 608874
MedGen 39 C1837210
MeSH 41 D002971
UMLS 69 C1837210

Summaries for Orofacial Cleft 5

UniProtKB/Swiss-Prot : 71 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, and has symptoms including cleft palate and cleft upper lip. An important gene associated with Orofacial Cleft 5 is MSX1 (Msh Homeobox 1).

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:

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

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 28 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:

71
# 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.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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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