OFC11
MCID: ORF027
MIFTS: 24

Orofacial Cleft 11 (OFC11)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 11

MalaCards integrated aliases for Orofacial Cleft 11:

Name: Orofacial Cleft 11 58 12 76 30 13 6 15 74
Ofc11 58 76
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 11 58
Non-Syndromic Cleft Lip with or Without Cleft Palate 11 76
Nonsyndromic Cleft Lip with or Without Cleft Palate 11 12
Non-Syndromic Cleft Lip/palate 11 76
Non-Syndromic Orofacial Cleft 11 76
Cleft Lip, Congenital Healed 74
Cleft Lip Congenital Healed 76
Congenital Healed Cleft Lip 76
Orofacial Cleft, Type 11 41
Chcl 76

Characteristics:

OMIM:

58
Inheritance:
? familial predisposition


HPO:

33
orofacial cleft 11:
Inheritance polygenic inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080404
OMIM 58 600625
MeSH 45 D002971
SNOMED-CT via HPO 70 253983005 66948001

Summaries for Orofacial Cleft 11

UniProtKB/Swiss-Prot : 76 Non-syndromic orofacial cleft 11: 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 11, also known as ofc11, is related to microphthalmia, syndromic 6 and cleft lip. An important gene associated with Orofacial Cleft 11 is BMP4 (Bone Morphogenetic Protein 4). Related phenotypes are oral cleft and cleft lip

Disease Ontology : 12 An orofacial cleft that has material basis in heterozygous mutation in the BMP4 gene on chromosome 14q22.

OMIM : 58 Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995). (600625)

Related Diseases for Orofacial Cleft 11

Diseases in the Orofacial Cleft family:

Orofacial Cleft 1 Orofacial Cleft 11
Orofacial Cleft 3 Orofacial Cleft 2
Orofacial Cleft 4 Orofacial Cleft 6
Orofacial Cleft 5 Orofacial Cleft 9
Orofacial Cleft 12 Orofacial Cleft 10
Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 15 Orofacial Cleft 8

Diseases related to Orofacial Cleft 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 6 31.9 BMP4 MIR5580
2 cleft lip 10.0
3 physical disorder 9.8 BMP4 NHLH1
4 cleft palate, isolated 9.7 BMP4 NHLH1
5 orofacial cleft 9.5 BMP4 MIR5580 NHLH1

Graphical network of the top 20 diseases related to Orofacial Cleft 11:



Diseases related to Orofacial Cleft 11

Symptoms & Phenotypes for Orofacial Cleft 11

Human phenotypes related to Orofacial Cleft 11:

33
# Description HPO Frequency HPO Source Accession
1 oral cleft 33 hallmark (90%) HP:0000202
2 cleft lip 33 HP:0410030

Symptoms via clinical synopsis from OMIM:

58
Mouth:
congenital 'healed' cleft lip (chcl)
paramedian upper lip 'scar'
ipsilateral notch of vermilion border

Misc:
most often in males
preferentially left sided

Nose:
collapsed nostril

Clinical features from OMIM:

600625

Drugs & Therapeutics for Orofacial Cleft 11

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 11

Genetic Tests for Orofacial Cleft 11

Genetic tests related to Orofacial Cleft 11:

# Genetic test Affiliating Genes
1 Orofacial Cleft 11 30 BMP4

Anatomical Context for Orofacial Cleft 11

Publications for Orofacial Cleft 11

Articles related to Orofacial Cleft 11:

# Title Authors Year
1
Microform cleft lip or congenital healed cleft lip? ( 25171616 )
2014

Variations for Orofacial Cleft 11

UniProtKB/Swiss-Prot genetic disease variations for Orofacial Cleft 11:

76
# Symbol AA change Variation ID SNP ID
1 BMP4 p.Ser91Cys VAR_043531 rs121912767
2 BMP4 p.Arg162Gln VAR_058315 rs770493925
3 BMP4 p.Arg287His VAR_058317 rs121912768
4 BMP4 p.Ala346Val VAR_058318 rs121912766

ClinVar genetic disease variations for Orofacial Cleft 11:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMP4 NM_001202.5(BMP4): c.1037C> T (p.Ala346Val) single nucleotide variant Pathogenic rs121912766 GRCh37 Chromosome 14, 54416940: 54416940
2 BMP4 NM_001202.5(BMP4): c.1037C> T (p.Ala346Val) single nucleotide variant Pathogenic rs121912766 GRCh38 Chromosome 14, 53950222: 53950222
3 BMP4 NM_001202.5(BMP4): c.272C> G (p.Ser91Cys) single nucleotide variant Pathogenic rs121912767 GRCh37 Chromosome 14, 54418669: 54418669
4 BMP4 NM_001202.5(BMP4): c.272C> G (p.Ser91Cys) single nucleotide variant Pathogenic rs121912767 GRCh38 Chromosome 14, 53951951: 53951951
5 BMP4 NM_001202.5(BMP4): c.860G> A (p.Arg287His) single nucleotide variant Benign rs121912768 GRCh37 Chromosome 14, 54417117: 54417117
6 BMP4 NM_001202.5(BMP4): c.860G> A (p.Arg287His) single nucleotide variant Benign rs121912768 GRCh38 Chromosome 14, 53950399: 53950399
7 BMP4 NM_001202.5(BMP4): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs387906597 GRCh37 Chromosome 14, 54417385: 54417385
8 BMP4 NM_001202.5(BMP4): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs387906597 GRCh38 Chromosome 14, 53950667: 53950667
9 BMP4 NM_001202.5(BMP4): c.76T> C (p.Leu26=) single nucleotide variant Benign rs74486266 GRCh38 Chromosome 14, 53952147: 53952147
10 BMP4 NM_001202.5(BMP4): c.76T> C (p.Leu26=) single nucleotide variant Benign rs74486266 GRCh37 Chromosome 14, 54418865: 54418865
11 BMP4 NM_001202.5(BMP4): c.361C> T (p.His121Tyr) single nucleotide variant Uncertain significance rs754308298 GRCh38 Chromosome 14, 53951862: 53951862
12 BMP4 NM_001202.5(BMP4): c.361C> T (p.His121Tyr) single nucleotide variant Uncertain significance rs754308298 GRCh37 Chromosome 14, 54418580: 54418580

Expression for Orofacial Cleft 11

Search GEO for disease gene expression data for Orofacial Cleft 11.

Pathways for Orofacial Cleft 11

GO Terms for Orofacial Cleft 11

Sources for Orofacial Cleft 11

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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