MCID: ORF053
MIFTS: 23

Orofacial Clefting Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Orofacial Clefting Syndrome

MalaCards integrated aliases for Orofacial Clefting Syndrome:

Name: Orofacial Clefting Syndrome 59
Orofacial Clefting 6

Classifications:



External Ids:

Orphanet 59 ORPHA139039

Summaries for Orofacial Clefting Syndrome

MalaCards based summary : Orofacial Clefting Syndrome, also known as orofacial clefting, is related to orofacial cleft 5 and orofacial cleft 6. An important gene associated with Orofacial Clefting Syndrome is LRP6 (LDL Receptor Related Protein 6). Affiliated tissues include skin, brain and kidney.

Related Diseases for Orofacial Clefting Syndrome

Diseases related to Orofacial Clefting Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 205)
# Related Disease Score Top Affiliating Genes
1 orofacial cleft 5 12.8
2 orofacial cleft 6 12.8
3 orofacial cleft 15 12.8
4 orofacial cleft 1 12.8
5 orofacial cleft 11 12.7
6 orofacial cleft 10 12.7
7 orofacial cleft 2 12.7
8 orofacial cleft 8 12.7
9 orofacial cleft 4 12.6
10 orofacial cleft 9 12.6
11 orofacial cleft 12 12.6
12 orofacial cleft 13 12.6
13 orofacial cleft 3 12.6
14 orofacial cleft 12.6
15 orofacial cleft 14 12.6
16 cleft lip/palate-ectodermal dysplasia syndrome 12.4
17 tooth agenesis, selective, 1 12.3
18 cleft palate, isolated 11.9
19 microphthalmia, syndromic 11 11.6
20 van der woude syndrome 1 11.6
21 split-hand/foot malformation 1 11.6
22 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.6
23 microphthalmia, syndromic 6 11.5
24 split-hand/foot malformation 6 11.4
25 split-hand/foot malformation 3 11.4
26 split-hand/foot malformation 4 11.4
27 rapp-hodgkin syndrome 11.3
28 otofaciocervical syndrome 1 11.3
29 otofaciocervical syndrome 2 11.3
30 popliteal pterygium syndrome 11.3
31 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 11.2
32 hemifacial microsomia with radial defects 11.2
33 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 11.2
34 facial clefting, oblique, 1 11.2
35 split-hand/foot malformation 5 11.2
36 split hand-foot malformation 11.2
37 cleft lip with or without cleft palate 11.0
38 isolated cleft lip 10.7
39 neural tube defects 10.6
40 isolated pierre robin sequence 10.4
41 hypertelorism 10.3
42 pierre robin syndrome 10.3
43 common cold 10.3
44 holoprosencephaly 10.3
45 tooth agenesis 10.2
46 learning disability 10.2
47 anencephaly 10.2
48 orofaciodigital syndrome i 10.2
49 irf6-related disorders 10.2
50 palatopharyngeal incompetence 10.1

Graphical network of the top 20 diseases related to Orofacial Clefting Syndrome:



Diseases related to Orofacial Clefting Syndrome

Symptoms & Phenotypes for Orofacial Clefting Syndrome

Drugs & Therapeutics for Orofacial Clefting Syndrome

Search Clinical Trials , NIH Clinical Center for Orofacial Clefting Syndrome

Genetic Tests for Orofacial Clefting Syndrome

Anatomical Context for Orofacial Clefting Syndrome

MalaCards organs/tissues related to Orofacial Clefting Syndrome:

41
Skin, Brain, Kidney, Bone, Eye, Cortex, Whole Blood

Publications for Orofacial Clefting Syndrome

Articles related to Orofacial Clefting Syndrome:

(show top 50) (show all 309)
# Title Authors PMID Year
1
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals. 38
31172578 2019
2
Regulatory Mechanisms of Soft Palate Development and Malformations. 38
31150594 2019
3
New Causal Candidate Genes and Enhancers Linked to Orofacial Clefting Identified. 38
31355538 2019
4
Nucleic acid methylation and orofacial morphogenesis. 38
31385455 2019
5
Deletions and loss-of-function variants in TP63 associated with orofacial clefting. 38
30850703 2019
6
Association Studies Between Regulatory Regions of IRF6/TP63 Genes and Nonsyndromic Oral Clefts. 38
30419764 2019
7
Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene. 38
31299817 2019
8
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. 38
31215115 2019
9
Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip. 38
31248274 2019
10
p63 establishes epithelial enhancers at critical craniofacial development genes. 38
31049400 2019
11
Tissue engineering strategies combining molecular targets against inflammation and fibrosis, and umbilical cord blood stem cells to improve hampered muscle and skin regeneration following cleft repair. 38
31104334 2019
12
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation. 38
30689861 2019
13
Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene. 38
31022128 2019
14
A cleft lip and palate gene, Irf6, is involved in osteoblast differentiation of craniofacial bone. 38
30684382 2019
15
Systems genetics of nonsyndromic orofacial clefting provides insights into its complex aetiology. 38
30254216 2019
16
Associations between Orofacial Clefting and Neonatal Abstinence Syndrome. 38
30859050 2019
17
IRF6 and AP2A Interaction Regulates Epidermal Development. 38
29913133 2018
18
Olfactory function in patients with nonsyndromic orofacial clefts and their unaffected relatives. 38
30345654 2018
19
Patterns of Orofacial Clefting in New York City From 1983 to 2010: Trends by Racial Background, Birthplace, and Public Health Strategies. 38
29665339 2018
20
Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes. 38
29899370 2018
21
Oral-Health-Related Quality of Life in Children and Adolescents. 38
30213350 2018
22
Receptive and expressive language characteristics of school-aged children with non-syndromic cleft lip and/or palate. 38
29968398 2018
23
Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface. 38
29797482 2018
24
Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample. 38
29498243 2018
25
Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition. 38
29663709 2018
26
Identification of sonic hedgehog-regulated genes and biological processes in the cranial neural crest mesenchyme by comparative transcriptomics. 38
29945554 2018
27
High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development. 38
29719267 2018
28
GWAS reveals loci associated with velopharyngeal dysfunction. 38
29855589 2018
29
A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG. 38
29535761 2018
30
Burden of Orofacial Clefting in India, 2016: A Global Burden of Disease Approach. 38
29963432 2018
31
Common basis for orofacial clefting and cortical interneuronopathy. 38
29317601 2018
32
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins. 38
29130604 2018
33
Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation. 38
30410503 2018
34
MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach. 38
29053389 2018
35
Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation. 38
27505181 2017
36
Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting. 38
28884971 2017
37
Closing the Gap: Mouse Models to Study Adhesion in Secondary Palatogenesis. 38
28817360 2017
38
IRF6 and SPRY4 Signaling Interact in Periderm Development. 38
28732181 2017
39
Dental Decay Phenotype in Nonsyndromic Orofacial Clefting. 38
28535364 2017
40
IRF6 expression in basal epithelium partially rescues Irf6 knockout mice. 38
28643456 2017
41
Gene expression profile data for mouse facial development. 38
28856179 2017
42
Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report. 38
28875142 2017
43
A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome. 38
27243668 2017
44
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia. 38
28513979 2017
45
Understanding and Prevention of Orofacial Clefting: A Myth or Possibility? 38
29264280 2017
46
Digital Three-Dimensional Automation of the Modified Huddart and Bodenham Scoring System for Patients With Cleft Lip and Palate. 38
27136074 2017
47
Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features. 38
28181393 2017
48
Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome. 38
28166087 2017
49
Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate. 38
28069795 2017
50
Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting. 38
28287101 2017

Variations for Orofacial Clefting Syndrome

ClinVar genetic disease variations for Orofacial Clefting Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LRP6 NM_002336.3(LRP6): c.4593del (p.Cys1532fs) deletion Pathogenic rs869320635 12:12274309-12274309 12:12121375-12121375
2 LRP6 NM_002336.3(LRP6): c.4298C> T (p.Ser1433Leu) single nucleotide variant Uncertain significance rs869320647 12:12279639-12279639 12:12126705-12126705
3 LRP6 NM_002336.3(LRP6): c.4136G> A (p.Gly1379Asp) single nucleotide variant Uncertain significance rs869320646 12:12279801-12279801 12:12126867-12126867
4 LRP6 NM_002336.3(LRP6): c.3365A> C (p.Asp1122Ala) single nucleotide variant Uncertain significance rs869320645 12:12300332-12300332 12:12147398-12147398
5 LRP6 NM_002336.3(LRP6): c.2995G> C (p.Gly999Arg) single nucleotide variant Uncertain significance rs869320644 12:12302087-12302087 12:12149153-12149153
6 LRP6 NM_002336.3(LRP6): c.2058C> G (p.Ile686Met) single nucleotide variant Uncertain significance rs869320643 12:12315348-12315348 12:12162414-12162414
7 LRP6 NM_002336.3(LRP6): c.1620G> T (p.Leu540Phe) single nucleotide variant Uncertain significance rs869320642 12:12318155-12318155 12:12165221-12165221
8 LRP6 NM_002336.3(LRP6): c.1004G> T (p.Arg335Leu) single nucleotide variant Uncertain significance rs869320641 12:12334346-12334346 12:12181412-12181412
9 CDH1 NM_004360.5(CDH1): c.88C> A (p.Pro30Thr) single nucleotide variant Benign rs139866691 16:68772239-68772239 16:68738336-68738336

Expression for Orofacial Clefting Syndrome

Search GEO for disease gene expression data for Orofacial Clefting Syndrome.

Pathways for Orofacial Clefting Syndrome

GO Terms for Orofacial Clefting Syndrome

Sources for Orofacial Clefting Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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