OFC11
MCID: ORF027
MIFTS: 34

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 57 12 72 29 13 6 15 70
Ofc11 57 72
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 11 57
Non-Syndromic Cleft Lip with or Without Cleft Palate 11 72
Nonsyndromic Cleft Lip with or Without Cleft Palate 11 12
Non-Syndromic Cleft Lip/palate 11 72
Non-Syndromic Orofacial Cleft 11 72
Cleft Lip, Congenital Healed 70
Cleft Lip Congenital Healed 72
Congenital Healed Cleft Lip 72
Orofacial Cleft, Type 11 39
Chcl 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
? familial predisposition


HPO:

31
orofacial cleft 11:
Inheritance polygenic inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080404
OMIM® 57 600625
OMIM Phenotypic Series 57 PS119530
MeSH 44 D002971
SNOMED-CT via HPO 68 63567004 87979003
UMLS 70 C1833563 C2677434

Summaries for Orofacial Cleft 11

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). For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic cleft lip with or without cleft palate, see OFC1 (119530). (600625) (Updated 05-Apr-2021)

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), and among its related pathways/superpathways are TGF-beta signaling pathway (KEGG) and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include eye, and related phenotypes are cleft palate and cleft lip

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

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Orofacial Cleft 11

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:

31
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 cleft lip 31 HP:0410030

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

MalaCards organs/tissues related to Orofacial Cleft 11:

40
Eye

Publications for Orofacial Cleft 11

Articles related to Orofacial Cleft 11:

# Title Authors PMID Year
1
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. 57 6
19249007 2009
2
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. 6
21340693 2011
3
Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate. 57
17497721 2007
4
Distinct functions for Bmp signaling in lip and palate fusion in mice. 57
15716346 2005
5
Congenital healed cleft lip. 57
8533798 1995
6
Damage to Orbitofrontal Areas 12 and 13, but Not Area 14, Results in Blunted Attention and Arousal to Socioemotional Stimuli in Rhesus Macaques. 61
33093825 2020
7
Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. 61
17564975 2007

Variations for Orofacial Cleft 11

ClinVar genetic disease variations for Orofacial Cleft 11:

6 (show all 47)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BMP4 NM_001202.6(BMP4):c.1037C>T (p.Ala346Val) SNV Pathogenic 17702 rs121912766 GRCh37: 14:54416940-54416940
GRCh38: 14:53950222-53950222
2 BMP4 NM_001202.6(BMP4):c.592C>T (p.Arg198Ter) SNV Pathogenic 29616 rs387906597 GRCh37: 14:54417385-54417385
GRCh38: 14:53950667-53950667
3 BMP4 NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) SNV Uncertain significance 17703 rs121912767 GRCh37: 14:54418669-54418669
GRCh38: 14:53951951-53951951
4 LOC109433677 , BMP4 NM_001202.6(BMP4):c.-342G>A SNV Uncertain significance 313356 rs778139957 GRCh37: 14:54423477-54423477
GRCh38: 14:53956759-53956759
5 BMP4 NM_001202.6(BMP4):c.288A>G (p.Glu96=) SNV Uncertain significance 313352 rs886050541 GRCh37: 14:54418653-54418653
GRCh38: 14:53951935-53951935
6 BMP4 NM_001202.6(BMP4):c.*143A>T SNV Uncertain significance 313347 rs750395429 GRCh37: 14:54416607-54416607
GRCh38: 14:53949889-53949889
7 BMP4 NM_001202.6(BMP4):c.370+12C>T SNV Uncertain significance 313351 rs368426865 GRCh37: 14:54418559-54418559
GRCh38: 14:53951841-53951841
8 BMP4 NM_001202.6(BMP4):c.*131A>T SNV Uncertain significance 313348 rs76149166 GRCh37: 14:54416619-54416619
GRCh38: 14:53949901-53949901
9 BMP4 NM_001202.6(BMP4):c.*272A>G SNV Uncertain significance 313335 rs568281464 GRCh37: 14:54416478-54416478
GRCh38: 14:53949760-53949760
10 BMP4 NM_001202.6(BMP4):c.*35C>G SNV Uncertain significance 313350 rs886050540 GRCh37: 14:54416715-54416715
GRCh38: 14:53949997-53949997
11 BMP4 NM_001202.6(BMP4):c.*149G>A SNV Uncertain significance 313345 rs74495140 GRCh37: 14:54416601-54416601
GRCh38: 14:53949883-53949883
12 BMP4 NM_001202.6(BMP4):c.753T>C (p.His251=) SNV Uncertain significance 882739 GRCh37: 14:54417224-54417224
GRCh38: 14:53950506-53950506
13 BMP4 NM_001202.6(BMP4):c.676C>T (p.Arg226Trp) SNV Uncertain significance 497489 rs140590144 GRCh37: 14:54417301-54417301
GRCh38: 14:53950583-53950583
14 LOC109433677 , BMP4 NM_001202.6(BMP4):c.-251C>G SNV Uncertain significance 882793 GRCh37: 14:54423386-54423386
GRCh38: 14:53956668-53956668
15 LOC109433677 , BMP4 NM_001202.6(BMP4):c.-329T>C SNV Uncertain significance 882794 GRCh37: 14:54423464-54423464
GRCh38: 14:53956746-53956746
16 BMP4 NM_001202.6(BMP4):c.*254A>T SNV Uncertain significance 883475 GRCh37: 14:54416496-54416496
GRCh38: 14:53949778-53949778
17 BMP4 NM_001202.6(BMP4):c.362A>G (p.His121Arg) SNV Uncertain significance 29618 rs376960358 GRCh37: 14:54418579-54418579
GRCh38: 14:53951861-53951861
18 BMP4 NM_001202.6(BMP4):c.345C>T (p.Asn115=) SNV Uncertain significance 767320 rs143687498 GRCh37: 14:54418596-54418596
GRCh38: 14:53951878-53951878
19 BMP4 NM_001202.6(BMP4):c.305C>T (p.Thr102Ile) SNV Uncertain significance 883532 GRCh37: 14:54418636-54418636
GRCh38: 14:53951918-53951918
20 BMP4 NM_001202.6(BMP4):c.291G>A (p.Glu97=) SNV Uncertain significance 883533 GRCh37: 14:54418650-54418650
GRCh38: 14:53951932-53951932
21 BMP4 NM_001202.6(BMP4):c.865_879delinsGT (p.Arg289fs) Indel Uncertain significance 965809 GRCh37: 14:54417098-54417112
GRCh38: 14:53950380-53950394
22 BMP4 NM_001202.6(BMP4):c.224A>G (p.Lys75Arg) SNV Uncertain significance 313353 rs777501416 GRCh37: 14:54418717-54418717
GRCh38: 14:53951999-53951999
23 BMP4 NM_001202.6(BMP4):c.215A>G (p.Gln72Arg) SNV Uncertain significance 313354 rs771047931 GRCh37: 14:54418726-54418726
GRCh38: 14:53952008-53952008
24 BMP4 NM_001202.6(BMP4):c.361C>T (p.His121Tyr) SNV Uncertain significance 536258 rs754308298 GRCh37: 14:54418580-54418580
GRCh38: 14:53951862-53951862
25 BMP4 NM_001202.6(BMP4):c.*31T>A SNV Uncertain significance 881587 GRCh37: 14:54416719-54416719
GRCh38: 14:53950001-53950001
26 BMP4 NM_001202.6(BMP4):c.124G>C (p.Ala42Pro) SNV Uncertain significance 881629 GRCh37: 14:54418817-54418817
GRCh38: 14:53952099-53952099
27 BMP4 NM_001202.6(BMP4):c.76T>C (p.Leu26=) SNV Uncertain significance 468357 rs74486266 GRCh37: 14:54418865-54418865
GRCh38: 14:53952147-53952147
28 BMP4 NM_001202.6(BMP4):c.426T>A (p.Phe142Leu) SNV Uncertain significance 971910 GRCh37: 14:54417551-54417551
GRCh38: 14:53950833-53950833
29 BMP4 NM_001202.6(BMP4):c.857G>A (p.Arg286Gln) SNV Uncertain significance 1022631 GRCh37: 14:54417120-54417120
GRCh38: 14:53950402-53950402
30 BMP4 NM_001202.6(BMP4):c.935C>T (p.Ser312Leu) SNV Uncertain significance 1006001 GRCh37: 14:54417042-54417042
GRCh38: 14:53950324-53950324
31 BMP4 NM_001202.6(BMP4):c.362A>G (p.His121Arg) SNV Likely benign 29618 rs376960358 GRCh37: 14:54418579-54418579
GRCh38: 14:53951861-53951861
32 LOC109433677 , BMP4 NM_001202.6(BMP4):c.-155G>A SNV Likely benign 881630 GRCh37: 14:54423290-54423290
GRCh38: 14:53956572-53956572
33 BMP4 NM_001202.6(BMP4):c.*28A>T SNV Likely benign 881588 GRCh37: 14:54416722-54416722
GRCh38: 14:53950004-53950004
34 BMP4 NM_001202.6(BMP4):c.455T>C (p.Val152Ala) SNV Likely benign 197190 rs17563 GRCh37: 14:54417522-54417522
GRCh38: 14:53950804-53950804
35 BMP4 NM_001202.6(BMP4):c.*251C>T SNV Likely benign 313336 rs573118445 GRCh37: 14:54416499-54416499
GRCh38: 14:53949781-53949781
36 BMP4 NM_001202.6(BMP4):c.93G>C (p.Gly31=) SNV Likely benign 721286 rs375563326 GRCh37: 14:54418848-54418848
GRCh38: 14:53952130-53952130
37 BMP4 NM_001202.6(BMP4):c.502G>C (p.Gly168Arg) SNV Likely benign 725943 rs373924774 GRCh37: 14:54417475-54417475
GRCh38: 14:53950757-53950757
38 BMP4 NM_001202.6(BMP4):c.394A>G (p.Thr132Ala) SNV Likely benign 727630 rs199935719 GRCh37: 14:54417583-54417583
GRCh38: 14:53950865-53950865
39 BMP4 NM_001202.6(BMP4):c.315G>A (p.Glu105=) SNV Likely benign 748583 rs774069849 GRCh37: 14:54418626-54418626
GRCh38: 14:53951908-53951908
40 BMP4 NM_001202.6(BMP4):c.860G>A (p.Arg287His) SNV Likely benign 17704 rs121912768 GRCh37: 14:54417117-54417117
GRCh38: 14:53950399-53950399
41 BMP4 NM_001202.6(BMP4):c.*148A>T SNV Benign 313346 rs76335800 GRCh37: 14:54416602-54416602
GRCh38: 14:53949884-53949884
42 LOC109433677 , BMP4 NM_001202.6(BMP4):c.-146T>C SNV Benign 313355 rs73267467 GRCh37: 14:54423281-54423281
GRCh38: 14:53956563-53956563
43 BMP4 NM_001202.6(BMP4):c.345C>T (p.Asn115=) SNV Benign 767320 rs143687498 GRCh37: 14:54418596-54418596
GRCh38: 14:53951878-53951878
44 BMP4 NM_001202.6(BMP4):c.*88C>T SNV Benign 313349 rs74054236 GRCh37: 14:54416662-54416662
GRCh38: 14:53949944-53949944
45 BMP4 NM_001202.6(BMP4):c.76T>C (p.Leu26=) SNV Benign 468357 rs74486266 GRCh37: 14:54418865-54418865
GRCh38: 14:53952147-53952147
46 BMP4 NM_001202.6(BMP4):c.860G>A (p.Arg287His) SNV Benign 17704 rs121912768 GRCh37: 14:54417117-54417117
GRCh38: 14:53950399-53950399
47 BMP4 NM_001202.6(BMP4):c.228T>A (p.Ser76Arg) SNV Benign 707581 rs114957446 GRCh37: 14:54418713-54418713
GRCh38: 14:53951995-53951995

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

72
# 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

Expression for Orofacial Cleft 11

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

Pathways for Orofacial Cleft 11

Pathways related to Orofacial Cleft 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.93 BMPR1B BMP4
2 9.97 BMPR1B BMP4

GO Terms for Orofacial Cleft 11

Biological processes related to Orofacial Cleft 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.48 BMPR1B BMP4
2 cartilage development GO:0051216 9.46 BMPR1B BMP4
3 positive regulation of osteoblast differentiation GO:0045669 9.43 BMPR1B BMP4
4 cellular response to growth factor stimulus GO:0071363 9.4 BMPR1B BMP4
5 positive regulation of cell differentiation GO:0045597 9.37 BMPR1B BMP4
6 chondrocyte differentiation GO:0002062 9.32 BMPR1B BMP4
7 cellular response to BMP stimulus GO:0071773 9.26 BMPR1B BMP4
8 positive regulation of bone mineralization GO:0030501 9.16 BMPR1B BMP4
9 positive regulation of cartilage development GO:0061036 8.96 BMPR1B BMP4
10 camera-type eye development GO:0043010 8.8 CRYBA4 BMPR1B BMP4

Sources for Orofacial Cleft 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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