MCID: ORF027
MIFTS: 21

Orofacial Cleft 11

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 11

MalaCards integrated aliases for Orofacial Cleft 11:

Name: Orofacial Cleft 11 57 75 29 13 6 73
Ofc11 57 75
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 11 57
Non-Syndromic Cleft Lip with or Without Cleft Palate 11 75
Non-Syndromic Cleft Lip/palate 11 75
Non-Syndromic Orofacial Cleft 11 75
Cleft Lip, Congenital Healed 73
Cleft Lip Congenital Healed 75
Congenital Healed Cleft Lip 75
Orofacial Cleft, Type 11 40
Chcl 75

Characteristics:

OMIM:

57
Inheritance:
? familial predisposition


HPO:

32
orofacial cleft 11:
Inheritance familial predisposition


Classifications:



External Ids:

OMIM 57 600625
MeSH 44 D002971
SNOMED-CT via HPO 69 253983005 66948001 92821006

Summaries for Orofacial Cleft 11

UniProtKB/Swiss-Prot : 75 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 orofacial cleft. An important gene associated with Orofacial Cleft 11 is BMP4 (Bone Morphogenetic Protein 4). Related phenotypes are oral cleft and facial cleft

OMIM : 57 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

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 11.3
2 orofacial cleft 9.0 BMP4 MIR5580

Symptoms & Phenotypes for Orofacial Cleft 11

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Orofacial Cleft 11:

32
# Description HPO Frequency HPO Source Accession
1 oral cleft 32 hallmark (90%) HP:0000202
2 facial cleft 32 HP:0002006

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 29 BMP4

Anatomical Context for Orofacial Cleft 11

Publications for Orofacial Cleft 11

Variations for Orofacial Cleft 11

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

75
# 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
# 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.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs387906597 GRCh37 Chromosome 14, 54417385: 54417385
6 BMP4 NM_001202.5(BMP4): c.592C> T (p.Arg198Ter) single nucleotide variant Pathogenic rs387906597 GRCh38 Chromosome 14, 53950667: 53950667
7 BMP4 NM_001202.5(BMP4): c.76T> C (p.Leu26=) single nucleotide variant Benign rs74486266 GRCh38 Chromosome 14, 53952147: 53952147
8 BMP4 NM_001202.5(BMP4): c.76T> C (p.Leu26=) single nucleotide variant Benign rs74486266 GRCh37 Chromosome 14, 54418865: 54418865
9 BMP4 NM_001202.5(BMP4): c.361C> T (p.His121Tyr) single nucleotide variant Uncertain significance rs754308298 GRCh37 Chromosome 14, 54418580: 54418580
10 BMP4 NM_001202.5(BMP4): c.361C> T (p.His121Tyr) single nucleotide variant Uncertain significance rs754308298 GRCh38 Chromosome 14, 53951862: 53951862

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 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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