MCID: ORF014
MIFTS: 16

Orofacial Cleft 5

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 5

MalaCards integrated aliases for Orofacial Cleft 5:

Name: Orofacial Cleft 5 57 75 29 13 6 73
Ofc5 57 75
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 5 57
Non-Syndromic Cleft Lip with or Without Cleft Palate 5 75
Non-Syndromic Cleft Lip/palate 5 75
Non-Syndromic Orofacial Cleft 5 75
Orofacial Cleft, Type 5 40

Characteristics:

HPO:

32
orofacial cleft 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608874
MedGen 42 C1837210
MeSH 44 D002971
UMLS 73 C1837210

Summaries for Orofacial Cleft 5

UniProtKB/Swiss-Prot : 75 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

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
# 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

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

Variations for Orofacial Cleft 5

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

75
# 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 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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