MCID: CLF001
MIFTS: 54

Cleft Lip

Categories: Ear diseases, Oral diseases

Aliases & Classifications for Cleft Lip

MalaCards integrated aliases for Cleft Lip:

Name: Cleft Lip 12 73 54 6 44 15 17 32
Cleft Lip, Unilateral, Complete 12
Complete Unilateral Cleft Lip 12
Labium Leporinum 12
Cheiloschisis 12
Hare Lip 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9296
ICD9CM 34 749.1 749.11
MeSH 44 D002971
NCIt 50 C87175
SNOMED-CT 67 156941008 62696001
ICD10 32 Q36 Q36.0 Q36.9
UMLS 70 C0008924 C0158651

Summaries for Cleft Lip

Disease Ontology : 12 An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.

MalaCards based summary : Cleft Lip, also known as cleft lip, unilateral, complete, is related to cleft lip/palate-ectodermal dysplasia syndrome and ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1. An important gene associated with Cleft Lip is SETD5 (SET Domain Containing 5), and among its related pathways/superpathways are PAK Pathway and Pathways in cancer. The drugs Dexamethasone acetate and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and eye, and related phenotypes are growth/size/body region and craniofacial

Wikipedia : 73 Cleft lip and cleft palate, also known as orofacial cleft, is a group of conditions that includes cleft... more...

Related Diseases for Cleft Lip

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

(show top 50) (show all 715)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate-ectodermal dysplasia syndrome 33.3 TP63 NECTIN1 IRF6 CLPTM1
2 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 33.1 TP63 NECTIN1 IRF6 FGFR1
3 blepharocheilodontic syndrome 1 33.1 TBX10 CTNND1 CDH1
4 cleft lip/palate 33.0 TP63 TGFA PHF8 NECTIN1 MSX1 MID1
5 orofacial cleft 10 32.8 SUMO1 IRF6
6 popliteal pterygium syndrome 32.8 VAX1 TGFB3 NECTIN1 MSX1 IRF6 ARHGAP29
7 cleft lip and alveolus 32.6 TP63 NECTIN1 MSX1 IRF6
8 cleft lip with or without cleft palate 32.5 TGFA TBX10 NECTIN1 MSX1 IRF6 CTNND1
9 isolated cleft lip 32.5 TP63 TBX10 NECTIN1 MSX1 IRF6
10 van der woude syndrome 1 32.4 VAX1 TP63 TGFB3 TBX10 PHF8 NECTIN1
11 orofacial cleft 4 32.4 TP63 SUMO1
12 branchiooculofacial syndrome 32.4 VAX1 MSX1 IRF6 BMP4
13 bartsocas-papas syndrome 32.3 TP63 IRF6
14 crouzon syndrome 32.1 MSX1 FGFR1 BMP4
15 kallmann syndrome 31.9 VAX1 MSX1 IRF6 FGFR1
16 holoprosencephaly 31.8 VAX1 MSX1 FGFR1 BMP4
17 ectodermal dysplasia 31.7 TP63 NECTIN1 MSX1 CTNND1 CDH1
18 cleft palate, isolated 31.6 VAX1 TP63 TGFB3 TGFA TBX10 SUMO1
19 tooth size 31.3 MSX1 BMP4
20 chromosome 2q35 duplication syndrome 31.2 TP63 NECTIN1 MSX1 IRF6 FGFR1 BMP4
21 orofacial cleft 31.0 VAX1 TP63 TGFB3 TGFA TBX10 SUMO1
22 tooth agenesis 30.8 TP63 TGFB3 TGFA SUMO1 NECTIN1 MSX1
23 euryblepharon 30.4 CTNND1 CDH1
24 distichiasis 30.2 CTNND1 CDH1
25 stickler syndrome 30.1 MSX1 IRF6 BMP4
26 ankyloblepharon-ectodermal defects-cleft lip/palate 11.9
27 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 11.8
28 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.7
29 hartsfield syndrome 11.7
30 orofacial cleft 11 11.7
31 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.6
32 orofaciodigital syndrome vi 11.6
33 rapp-hodgkin syndrome 11.6
34 juberg-hayward syndrome 11.6
35 vici syndrome 11.6
36 orofacial cleft 6 11.6
37 orofacial cleft 8 11.6
38 roberts-sc phocomelia syndrome 11.5
39 orofacial cleft 1 11.5
40 cleft palate, cardiac defects, and mental retardation 11.5
41 brachial amelia, cleft lip, and holoprosencephaly 11.5
42 orofacial cleft 5 11.5
43 catifa syndrome 11.5
44 acrofrontofacionasal dysostosis 11.5
45 kapur-toriello syndrome 11.5
46 richieri-costa/guion-almeida syndrome 11.4
47 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.4
48 microbrachycephaly ptosis cleft lip 11.4
49 medeira-dennis-donnai syndrome 11.4
50 ausems wittebol-post hennekam syndrome 11.4

Graphical network of the top 20 diseases related to Cleft Lip:



Diseases related to Cleft Lip

Symptoms & Phenotypes for Cleft Lip

MGI Mouse Phenotypes related to Cleft Lip:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 ARHGAP29 BMP4 CDH1 CLPTM1L FGFR1 IRF6
2 craniofacial MP:0005382 10.37 ARHGAP29 BMP4 FGFR1 IRF6 MSX1 NECTIN1
3 behavior/neurological MP:0005386 10.36 ARHGAP29 BMP4 CLPTM1L FGFR1 MID1 MSX1
4 digestive/alimentary MP:0005381 10.36 ARHGAP29 BMP4 CDH1 CTNND1 FGFR1 IRF6
5 cellular MP:0005384 10.28 BMP4 CDH1 CTNND1 FGFR1 IRF6 PHF8
6 mortality/aging MP:0010768 10.22 ARHGAP29 BMP4 CDH1 CLPTM1L CTNND1 FGFR1
7 embryo MP:0005380 10.19 ARHGAP29 BMP4 CDH1 FGFR1 IRF6 MID1
8 integument MP:0010771 10.14 BMP4 CDH1 CTNND1 FGFR1 IRF6 MSX1
9 endocrine/exocrine gland MP:0005379 10.13 BMP4 CDH1 CTNND1 FGFR1 MSX1 SETD5
10 nervous system MP:0003631 10 BMP4 CLPTM1L CTNND1 FGFR1 MID1 MSX1
11 hearing/vestibular/ear MP:0005377 9.98 ARHGAP29 BMP4 FGFR1 IRF6 MSX1 SETD5
12 limbs/digits/tail MP:0005371 9.91 BMP4 FGFR1 IRF6 MSX1 SETD5 TGFB3
13 normal MP:0002873 9.81 BMP4 CDH1 FGFR1 MID1 MSX1 SUMO1
14 skeleton MP:0005390 9.7 BMP4 CLPTM1L FGFR1 IRF6 MSX1 NECTIN1
15 vision/eye MP:0005391 9.36 BMP4 CTNND1 FGFR1 MSX1 NECTIN1 SETD5

Drugs & Therapeutics for Cleft Lip

Drugs for Cleft Lip (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 76)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Methylene blue Approved, Investigational Phase 4 61-73-4
4
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
5
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
6
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
7
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Remifentanil Approved Phase 4 132875-61-7 60815
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
13 Gastrointestinal Agents Phase 4
14 Antiemetics Phase 4
15 Hormone Antagonists Phase 4
16 glucocorticoids Phase 4
17 Hormones Phase 4
18 Antineoplastic Agents, Hormonal Phase 4
19 Anesthetics Phase 4
20 Antibiotics, Antitubercular Phase 4
21 Hemostatics Phase 4
22 Fibrin Tissue Adhesive Phase 4
23 Clindamycin phosphate Phase 4
24 Anti-Bacterial Agents Phase 4
25 Clindamycin palmitate Phase 4
26 penicillins Phase 4
27 Neurotransmitter Agents Phase 4
28 Analgesics, Non-Narcotic Phase 4
29 Cyclooxygenase Inhibitors Phase 4
30 Analgesics Phase 4
31 Antirheumatic Agents Phase 4
32 Anti-Inflammatory Agents Phase 4
33 Anti-Inflammatory Agents, Non-Steroidal Phase 4
34 Adrenergic alpha-Agonists Phase 4
35 Adrenergic Agents Phase 4
36 Hypnotics and Sedatives Phase 4
37 Adrenergic Agonists Phase 4
38 Excitatory Amino Acid Antagonists Phase 4
39 Anesthetics, General Phase 4
40 Anesthetics, Dissociative Phase 4
41 Anesthetics, Intravenous Phase 4
42 Narcotics Phase 4
43 Analgesics, Opioid Phase 4
44
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
45
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
47 abobotulinumtoxinA Phase 3
48 Cholinergic Agents Phase 3
49 Botulinum Toxins Phase 3
50 Botulinum Toxins, Type A Phase 3

Interventional clinical trials:

(show top 50) (show all 90)
# Name Status NCT ID Phase Drugs
1 Comparative Evaluation of Dexamethasone and Dexmedetomidine as Adjuvants for Bupivacaine in Ultrasound Guided Infraorbital Nerve Block in Infants for Cleft Lip Repair Completed NCT03480607 Phase 4 Dexmedetomidine group;Dexamethasone group
2 Cost Effectiveness in Alveolar Bone Grafting in Patients With Cleft Lip and Palate: A Randomized Clinical Trial Not yet recruiting NCT04234971 Phase 4 Intervention group (DBM/BMP);Control group(autologous ICBG)
3 Ketorolac in Palatoplasty: A Randomized Blinded Controlled Trial. Not yet recruiting NCT04771156 Phase 4 Ketorolac;Placebo
4 Opioid Free Anaesthesia vs Opioid Based Anesthesia in Cleft Lip, Palate ,Alveolus Surgery. Not yet recruiting NCT04081909 Phase 4 Fentanyl,Remifentanil;Ketamine,Dexmedetomidine
5 Botulinum Toxin to Improve Results in Cleft Lip Repair Unknown status NCT01429402 Phase 3 Botulinum Toxin Type A;Botulinum Type A;Normal Saline;Normal Saline
6 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3 Folic acid (0.4mg vs. 4.0mg)
7 Bone Tissue Engineering With Dental Pulp Stem Cells for Alveolar Cleft Repair Completed NCT03766217 Phase 3
8 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
9 Clinical Evaluation of Silicone Gel in the Treatment of Cleft Lip Scars Completed NCT03314090 Phase 3 Silicone Gels
10 Infra-orbital Nerve Block for Post Operative Analgesia in Young Children Undergoing Pediatric Cleft Lip Surgery. Completed NCT02514980 Phase 2, Phase 3 Bupivacaine;Ketamine
11 Velopharyngeal Function for Speech After Palatal Surgery Completed NCT00004639 Phase 2
12 Distraction Versus Orthognathic Surgery - Which One is Better for Cleft Palate Patients Completed NCT00930124 Phase 2
13 Botulinum Toxin to Improve Cosmesis of Primary Cleft Lip Repair Recruiting NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
14 Evaluation of the Effect of Platelet Rich Plasma (PRP) on the Esthetic Outcome and Scar Formation of Unilateral Cleft Lip Repair by Modified Millard Cheiloplasty: A Randomized Clinical Trial Terminated NCT02958306 Phase 2
15 Comparison of Two Nasoalveolar Molding Techniques in Complete Unilateral Cleft Lip Patient Unknown status NCT01883726
16 Evaluation of the Effects of LUNII on Pre-operative Anxiety and on the Post-operative Period in Children With Cleft Lip and Palate Admitted for Alveolar Bone Graft: Pilot Study Unknown status NCT03740841
17 Stability of One-Piece Le Fort I Osteotomy Versus Segmental Le Fort I Osteotomy: A Prospective Study Unknown status NCT01871623
18 Evaluation of the Effect of Botulinum Toxin Type-A Injection Prior to Surgical Correction of Complete Unilateral Cleftlip Repair by Modified Millard Cheiloplasty Unknown status NCT03047499 Botulinum toxin type A
19 Parent's Satisfaction and Evaluation of Postsurgical Outcomes in Unilateral Cleft Lip / Palate Newly Born Infants With / Without Vacuum Formed Nasoalveolar Molding Aligners : A Controlled Clinical Trial Unknown status NCT03011489
20 Comparaison Biochimique et Histologique Des Cartilages Nasal et Auriculaire Chez le fœtus et le Nouveau-né Porteur de Fente Labiale Unknown status NCT02505360
21 Osteogenesis and Dental Eruption Through Electrical Stimuli Following Periosteoplasty for Alveolar Clefts in Patients With Cleft Lip and Palate Deformities. A Preliminary Report. Unknown status NCT00975208
22 Distribution Of ABO Blood Groups In Relation To Cleft Lip And/or Palate . Unknown status NCT03217890
23 Evaluation of Arch Dimensions of Children With Surgically Repaired Unilateral Cleft Lip and Palate: A Cross Sectional Study Unknown status NCT03219021
24 Follow Ups of Parents With Infants With Cleft Lip and Palate Unknown status NCT02415361
25 The Difference in the Surgical Outcome of Unilateral Cleft Lip and Palate Between Patients With and Without Pre-Alveolar Bone Graft Orthodontic Treatment Unknown status NCT02454998
26 An Analysis of the Clinical Applicability of a Three-Dimensional Imaging Platform Used to Register the Influence of Orthognathic Surgery on Facial Hard and Soft Tissue in Patients With Congenital Maxillofacial Deformities. Unknown status NCT00285714
27 Three-dimensional Development of the Palate in Bilateral Orofacial Cleft Newborns One Year After Early Neonatal Cheiloplasty: Classic and Geometric Morphometric Evaluation Unknown status NCT03839290
28 Effect of Alveolar Bone Grafting on Health Quality in Patients With Cleft Lip and Palate Completed NCT03549039
29 FaceBase Biorepository Completed NCT01252264
30 Unilateral Cleft Repair in One Surgery With Pure Primary Healing Completed NCT04108416
31 Use of Mesenchymal Stem Cells for Alveolar Bone Tissue Engineering for Cleft Lip and Palate Patients Completed NCT01932164
32 Objective Assessment for Cleft Lip Nasal Deformity Correction Completed NCT03683199
33 Assessment of Fractional CO2 Laser in Treatment of Post-surgical Scarring of Cleft Lip Completed NCT03277287
34 Comparison of Cleft Lip and Palate Between a United States Tertiary Care Center and a Guatemalan Surgical Mission: A Cohort Study of 629 Pediatric Patients and a Survey of Risk Factors Completed NCT04725370
35 Functional Outcomes of Cleft Lip and Lip Revision Surgery Completed NCT00070811
36 Evaluation of Facial Growth in Two Primary Protocols Used in the Surgical Treatment of Unilateral Cleft Lip and Palate Patients. A Prospective Randomized Trial Completed NCT02329509
37 Clinical, Volumetric and Densitometric Evaluation of Tissue Engineered (TE) Constructs for Secondary Alveolar Cleft Reconstruction (Short Term Randomized Controlled Clinical Trial) Completed NCT03563495
38 Systematic Pediatric Care for Oral Clefts - South America Completed NCT00097149
39 Tympanometric Analysis in Post Surgical Individuals With Cleft Palate Completed NCT01820689
40 Ultrasound Diagnosis of Cleft Lip and Palate - FENCHU Completed NCT03582111
41 Effect of A Novel (Modified Grayson) Technique for Nasoalveolar Molding and Taping on Parents' Satisfaction and Short Term Treatment Outcomes in Infants With Unilateral Complete Cleft Lip and Palate: A Randomized Controlled Trial Completed NCT02845193
42 Otologic and Rhinologic Outcomes in Children With Cleft Palate at Age 10 Years Completed NCT03708406
43 Periodontal Changes and Gingival Soft Tissue Healing Following Mid Maxillary Distraction in Cleft Lip and Palate Patients Completed NCT03686761
44 Primary Palatoplasty in Pediatric Patients - A Retrospective Review of Surgical Outcomes Completed NCT01380171
45 Evaluation of the Clinical Effectiveness of Naso-alveolar Molding (NAM) Versus Computer Aided Design NAM (CAD/NAM) in Infants With Bilateral Cleft Lip and Palate: A Randomized Clinical Trial Completed NCT02881606
46 Electromyographic Analysis of the Masticatory Muscles in Cleft Lip and Palate Children With Pain-related Temporomandibular Disorders Completed NCT03308266
47 Comparison of Rotation- Advancement and Straight-line Methods for Repairing of Unilateral Cleft Lip (Randomized Controlled Clinical Trial) Completed NCT04607213
48 Efficacia Del Trattamento Chirurgico Maxillo-facciale Sul Volto Dei Bambini Con Labiopalatoschisi: Valutazioni Estetiche ed Ortodontiche Completed NCT03395015
49 OSAS in Children With Cleft Lip/Palate Completed NCT00156442
50 Emergence Delirium and Recovery Profile in Patients Undergoing Cleft Lip and Palate Repair: Comparison of Combination of Morphine and Fentanyl With Fentanyl Alone Completed NCT03010540 MORPHINE PLUS FENTANYL;Fentanyl

Search NIH Clinical Center for Cleft Lip

Cochrane evidence based reviews: cleft lip

Genetic Tests for Cleft Lip

Anatomical Context for Cleft Lip

MalaCards organs/tissues related to Cleft Lip:

40
Bone, Tongue, Eye, Pituitary, Bone Marrow, Thymus, Cortex

Publications for Cleft Lip

Articles related to Cleft Lip:

(show top 50) (show all 13642)
# Title Authors PMID Year
1
Attitudes toward children with clefts in rural Muslim and Hindu societies. 54 61
20061939 2010
2
p63 and IRF6: brothers in arms against cleft palate. 54 61
20424318 2010
3
Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse. 61 54
20196077 2010
4
Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population. 54 61
19780991 2010
5
MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China. 54 61
20082468 2010
6
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 54 61
19536562 2010
7
Analysis of interactions between genetic variants of BMP4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility. 61 54
19914800 2010
8
IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. 61 54
20121942 2009
9
Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. 54 61
19715471 2009
10
The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. 54 61
19536891 2009
11
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. 61 54
19444471 2009
12
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 61 54
19681128 2009
13
Correlation of the SNPs of FGFR1, FGF10, FGF18 with nonsyndromic cleft lip with or without palate in Chinese population. 54 61
19727229 2009
14
[No association of the A2756G polymorphism of methionine synthase gene with nonsyndromic cleft lip with or without cleft palate]. 61 54
19504454 2009
15
Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china. 61 54
19388848 2009
16
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. 61 54
19249007 2009
17
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 54 61
19036739 2009
18
[Relationship of nonsyndromic cleft lip and/or palate and poliovirus receptor-related 1 exon 3 polymorphisms in Han people of Jiangzhe area]. 61 54
19408722 2009
19
Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. 54 61
18771417 2008
20
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate or cleft palate only in Kelantan, Malaysia. 61 54
18956930 2008
21
TGFA/TAQ I polymorphism in nonsyndromic cleft lip and palate patients from Rio Grande Do Sul, Brazil. 61 54
18788876 2008
22
Reduced folate carrier 1 (RFC1) is associated with cleft of the lip only. 61 54
18797703 2008
23
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. 54 61
18364388 2008
24
[Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate]. 61 54
18705505 2008
25
Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts. 54 61
18161794 2008
26
Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate. 61 54
18356023 2008
27
Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe. 61 54
18452350 2008
28
Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes. 61 54
18209213 2008
29
Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero. 54 61
17951123 2007
30
A new mutation in TP63 is associated with age-related pathology. 61 54
17609671 2007
31
[Transmission disequilibrium test for nonsyndromic cleft lip and palate and segment homeobox gene-1 gene]. 54 61
18070437 2007
32
[Association of transforming growth factor-alpha gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate in Han nationality]. 54 61
17629209 2007
33
Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil. 54 61
17581676 2007
34
[Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate]. 54 61
17557248 2007
35
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. 61 54
17431894 2007
36
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. 61 54
17438386 2007
37
EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. 61 54
17300690 2007
38
Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. 54 61
17219389 2007
39
[Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft palate susceptibility]. 61 54
17456381 2007
40
p63-associated disorders. 61 54
17224651 2007
41
[Relationship between transforming growth factor-alpha gene polymorphism and non-syndromic cleft lip with cleft palate]. 61 54
17334078 2006
42
[Association between parental transforming growth factor alpha gene TaqI variant, paternal smoking and the cleft lip with or without cleft palate]. 54 61
17313741 2006
43
Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. 54 61
16712703 2006
44
A mutation of the p63 gene in non-syndromic cleft lip. 54 61
16740912 2006
45
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 61 54
16674562 2006
46
[Study on the association between transforming growth factor alpha gene TaqI variant and cleft lip with or without cleft palate]. 54 61
16792897 2006
47
Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate. 54 61
16687911 2006
48
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. 54 61
16247549 2006
49
MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. 61 54
16868654 2006
50
NMR structure of the p63 SAM domain and dynamical properties of G534V and T537P pathological mutants, identified in the AEC syndrome. 54 61
16679535 2006

Variations for Cleft Lip

ClinVar genetic disease variations for Cleft Lip:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SETD5 NM_001080517.3(SETD5):c.2168dup (p.Leu723fs) Duplication Pathogenic 981664 GRCh37: 3:9490133-9490134
GRCh38: 3:9448449-9448450
2 overlap with 8 genes GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005) copy number loss Pathogenic 1047882 GRCh37: 6:155308263-158394005
GRCh38:
3 overlap with 21 genes GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592) copy number loss Pathogenic 1047904 GRCh37: 2:96755045-98021592
GRCh38:

Expression for Cleft Lip

Search GEO for disease gene expression data for Cleft Lip.

Pathways for Cleft Lip

GO Terms for Cleft Lip

Biological processes related to Cleft Lip according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.95 TP63 TGFB3 PHF8 IRF6 CDH1 BMP4
2 BMP signaling pathway GO:0030509 9.71 TGFB3 MSX1 BMP4
3 odontogenesis of dentin-containing tooth GO:0042475 9.63 TP63 MSX1 BMP4
4 embryonic morphogenesis GO:0048598 9.58 MSX1 BMP4
5 embryonic limb morphogenesis GO:0030326 9.58 TP63 MSX1 BMP4
6 anatomical structure formation involved in morphogenesis GO:0048646 9.57 TP63 BMP4
7 positive regulation of SMAD protein signal transduction GO:0060391 9.56 TGFB3 BMP4
8 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.55 MSX1 BMP4
9 adherens junction organization GO:0034332 9.54 NECTIN1 CTNND1 CDH1
10 cranial skeletal system development GO:1904888 9.52 TP63 IRF6
11 regulation of synapse assembly GO:0051963 9.51 SETD5 NECTIN1
12 odontogenesis GO:0042476 9.5 TGFB3 MSX1 BMP4
13 entry of bacterium into host cell GO:0035635 9.49 CTNND1 CDH1
14 BMP signaling pathway involved in heart development GO:0061312 9.43 MSX1 BMP4
15 pituitary gland development GO:0021983 9.33 MSX1 CDH1 BMP4
16 cloacal septation GO:0060197 9.26 TP63 BMP4
17 embryonic hindlimb morphogenesis GO:0035116 9.13 TP63 MSX1 BMP4
18 roof of mouth development GO:0060021 8.92 VAX1 SUMO1 MSX1 IRF6

Molecular functions related to Cleft Lip according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 8.8 NECTIN1 CTNND1 CDH1

Sources for Cleft Lip

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
Content
Loading form....