Aliases & Classifications for Cleft Lip

MalaCards integrated aliases for Cleft Lip:

Name: Cleft Lip 12 74 54 43 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
MeSH 43 D002971
NCIt 49 C87175
SNOMED-CT 67 62696001 80281008
ICD10 32 Q36 Q36.0 Q36.9
UMLS 71 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 cleft lip and alveolus. An important gene associated with Cleft Lip is PVT1 (Pvt1 Oncogene), and among its related pathways/superpathways are Gastric cancer and Pathways in cancer. The drugs Acetylcholine and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related phenotypes are craniofacial and growth/size/body region

Wikipedia : 74 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 712)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate-ectodermal dysplasia syndrome 35.2 NECTIN1 IRF6 CLPTM1
2 cleft lip and alveolus 34.6 TP63 NECTIN1 MSX1 IRF6
3 isolated cleft lip 34.5 TP63 TBX10 NECTIN1 MSX1 IRF6
4 cleft lip/palate 34.4 WNT3 TP63 TGFA NECTIN1 MSX1 MID1
5 orofacial cleft 10 34.2 SUMO1 IRF6
6 branchiooculofacial syndrome 34.1 TFAP2A MSX1 IRF6
7 cleft lip with or without cleft palate 33.9 TGFA TFAP2A TBX10 SUMO1 NECTIN1 MSX1
8 popliteal pterygium syndrome 33.6 VAX1 TGFB3 TFAP2A NECTIN1 MSX1 IRF6
9 orofacial cleft 4 33.4 TP63 SUMO1
10 van der woude syndrome 1 32.9 VAX1 TP63 TGFB3 TGFA TFAP2A TBX10
11 bartsocas-papas syndrome 32.8 TP63 IRF6
12 cleft palate, isolated 32.3 WNT3 VAX1 TP63 TGFB3 TGFA TFAP2A
13 hard palate cancer 32.2 MSX1 IRF6 BMP4
14 tooth size 31.5 MSX1 BMP4
15 chromosome 2q35 duplication syndrome 31.3 TP63 NECTIN1 MSX1 IRF6 FGFR1 BMP4
16 orofacial cleft 31.2 WNT3 VAX1 TP63 TGFB3 TGFA TFAP2A
17 anodontia 30.8 TP63 MSX1
18 microphthalmia 30.8 VAX1 TFAP2A NECTIN1 CDH1 BMP4
19 coloboma of macula 30.7 VAX1 TFAP2A MSX1 FGFR1 BMP4
20 tooth agenesis 30.7 WNT3 TP63 TGFB3 TGFA SUMO1 NECTIN1
21 basal cell carcinoma 30.7 WNT3 TP63 CLPTM1L CDH1 BMP4
22 lacrimal duct obstruction 30.4 TP63 TFAP2A
23 corpus callosum lipoma 30.1 WNT3 FGFR1
24 ankyloblepharon-ectodermal defects-cleft lip/palate 12.9
25 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.8
26 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.8
27 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.8
28 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.7
29 brachial amelia, cleft lip, and holoprosencephaly 12.7
30 microbrachycephaly ptosis cleft lip 12.5
31 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 12.5
32 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease 12.4
33 blepharocheilodontic syndrome 1 12.4
34 median cleft lip/mandibule 12.4
35 radius, aplasia of, with cleft lip/palate 12.4
36 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 12.4
37 cleft lip/palate with abnormal thumbs and microcephaly 12.4
38 orofacial cleft 11 12.3
39 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.3
40 cleft lip-retinopathy syndrome 12.3
41 hartsfield syndrome 12.3
42 cleft lip and palate malrotation cardiopathy 12.3
43 cleft lip palate dysmorphism kumar type 12.3
44 cleft lip palate oligodontia syndactyly pili torti 12.3
45 cleft lip palate pituitary deficiency 12.3
46 cleft lip palate-tetraphocomelia 12.3
47 craniosynostosis cleft lip palate arthrogryposis 12.3
48 syndactyly ectodermal dysplasia cleft lip palate hand foot 12.3
49 cleft lip/palate-deafness-sacral lipoma syndrome 12.3
50 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 12.3

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:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.36 ARHGAP29 BMP4 FGFR1 IRF6 MSX1 NECTIN1
2 growth/size/body region MP:0005378 10.36 ARHGAP29 BMP4 CDH1 FGFR1 IRF6 MID1
3 behavior/neurological MP:0005386 10.31 BMP4 CLPTM1L FGFR1 MID1 MSX1 NECTIN1
4 digestive/alimentary MP:0005381 10.31 ARHGAP29 BMP4 CDH1 FGFR1 IRF6 MSX1
5 cellular MP:0005384 10.26 BMP4 CDH1 FGFR1 IRF6 PHF8 SUMO1
6 embryo MP:0005380 10.22 ARHGAP29 BMP4 CDH1 FGFR1 IRF6 MID1
7 mortality/aging MP:0010768 10.16 ARHGAP29 BMP4 CDH1 CLPTM1L FGFR1 IRF6
8 endocrine/exocrine gland MP:0005379 10.11 BMP4 CDH1 FGFR1 MSX1 SUMO1 TFAP2A
9 integument MP:0010771 10.07 BMP4 CDH1 FGFR1 IRF6 MSX1 NECTIN1
10 hearing/vestibular/ear MP:0005377 9.95 ARHGAP29 BMP4 FGFR1 IRF6 MSX1 TBX10
11 limbs/digits/tail MP:0005371 9.92 BMP4 FGFR1 IRF6 MSX1 TFAP2A TGFB3
12 normal MP:0002873 9.9 BMP4 CDH1 FGFR1 MID1 MSX1 SUMO1
13 skeleton MP:0005390 9.65 BMP4 FGFR1 IRF6 MSX1 NECTIN1 TFAP2A
14 vision/eye MP:0005391 9.32 BMP4 FGFR1 MSX1 NECTIN1 TBX10 TFAP2A

Drugs & Therapeutics for Cleft Lip

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

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
6
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
7
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Remifentanil Approved Phase 4 132875-61-7 60815
10
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
11
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
12 abobotulinumtoxinA Phase 4
13 Acetylcholine Release Inhibitors Phase 4
14 Botulinum Toxins, Type A Phase 4
15 Cholinergic Agents Phase 4
16 Botulinum Toxins Phase 4
17 Antiemetics Phase 4
18 Gastrointestinal Agents Phase 4
19 Anti-Inflammatory Agents Phase 4
20 HIV Protease Inhibitors Phase 4
21
protease inhibitors Phase 4
22 glucocorticoids Phase 4
23 Antineoplastic Agents, Hormonal Phase 4
24 Autonomic Agents Phase 4
25 BB 1101 Phase 4
26 Hormone Antagonists Phase 4
27 Hormones Phase 4
28 Fibrin Tissue Adhesive Phase 4
29 Hemostatics Phase 4
30 Coagulants Phase 4
31 Neurotransmitter Agents Phase 4
32 Narcotics Phase 4
33 Adjuvants, Anesthesia Phase 4
34 Anesthetics Phase 4
35 Analgesics Phase 4
36 Analgesics, Opioid Phase 4
37 Anesthetics, General Phase 4
38 Anesthetics, Intravenous Phase 4
39 Central Nervous System Depressants Phase 4
40 Excitatory Amino Acid Antagonists Phase 4
41 Anesthetics, Dissociative Phase 4
42 Excitatory Amino Acids Phase 4
43 Adrenergic Agonists Phase 4
44 Adrenergic alpha-2 Receptor Agonists Phase 4
45 Analgesics, Non-Narcotic Phase 4
46 Hypnotics and Sedatives Phase 4
47 Adrenergic Agents Phase 4
48 Platelet Aggregation Inhibitors Phase 4
49 Anesthetics, Inhalation Phase 4
50 Neuromuscular Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 98)
# Name Status NCT ID Phase Drugs
1 Botulinum Toxin to Improve Lower Blepharoplasty Scar Unknown status NCT02786550 Phase 4 Botulinum Toxin
2 Comparative Evaluation of Dexamethasone and Dexmedetomidine as Adjuvants for Bupivacaine in Ultrasound Guided Infraorbital Nerve Block in Infants for Cleft Lip Repair Recruiting NCT03480607 Phase 4 Dexmedetomidine group;Dexamethasone group
3 Does Sevoflurane Induce Genomic Instability in Patients Undergoing General Anaesthesia? Recruiting NCT03109119 Phase 4 Sevoflurane;Propofol
4 The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery Recruiting NCT02953145 Phase 4 Tisseel
5 Opioid Free Anaesthesia vs Opioid Based Anesthesia in Cleft Lip, Palate ,Alveolus Surgery. Not yet recruiting NCT04081909 Phase 4 Fentanyl,Remifentanil;Ketamine,Dexmedetomidine
6 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
7 Infra-orbital Nerve Block for Post Operative Analgesia in Young Children Undergoing Pediatric Cleft Lip Surgery. Completed NCT02514980 Phase 2, Phase 3 Bupivacaine;Ketamine
8 Clinical Evaluation of Silicone Gel in the Treatment of Cleft Lip Scars Completed NCT03314090 Phase 3 Silicone Gels
9 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3 Folic acid (0.4mg vs. 4.0mg)
10 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
11 Bone Tissue Engineering With Dental Pulp Stem Cells for Alveolar Cleft Repair Recruiting NCT03766217 Phase 3
12 Velopharyngeal Function for Speech After Palatal Surgery Completed NCT00004639 Phase 2
13 Distraction Versus Orthognathic Surgery - Which One is Better for Cleft Palate Patients Completed NCT00930124 Phase 2
14 Efficacy of Preoperative Prophylactic Antibiotics in Preventing Complications in the Primary Repair of Cleft Palates Completed NCT00760006 Phase 2 Unasyn
15 Evaluation of Postoperative Analgesic Effects of Bilateral Suprazygomatic Maxillary Nerve Block Using Bupivacaine and Dexmedetomidine in Children Undergoing Cleft Palate Repair Under General Anesthesia:Randomized Controlled Trial Completed NCT03412474 Phase 2 Bupivacaine;Dexmedetomidine;paracetamol
16 Botulinum Toxin to Improve Cosmesis of Primary Cleft Lip Repair Recruiting NCT02247193 Phase 1, Phase 2 Botulinum Toxin Type A;Normal Saline Injection
17 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
18 Comparison of Two Nasoalveolar Molding Techniques in Complete Unilateral Cleft Lip Patient Unknown status NCT01883726
19 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
20 Distribution Of ABO Blood Groups In Relation To Cleft Lip And/or Palate . Unknown status NCT03217890
21 Evaluation of Arch Dimensions of Children With Surgically Repaired Unilateral Cleft Lip and Palate: A Cross Sectional Study Unknown status NCT03219021
22 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
23 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
24 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
25 Comparaison Biochimique et Histologique Des Cartilages Nasal et Auriculaire Chez le fœtus et le Nouveau-né Porteur de Fente Labiale Unknown status NCT02505360
26 Follow Ups of Parents With Infants With Cleft Lip and Palate Unknown status NCT02415361
27 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
28 Stability of One-Piece Le Fort I Osteotomy Versus Segmental Le Fort I Osteotomy: A Prospective Study Unknown status NCT01871623
29 Functional Nasal Surgery at the Time of Le Fort I Osteotomy: A Prospective, Single-blind, Randomized Trial Unknown status NCT01883687
30 Improving Outcomes in Cleft Palate Surgery Through an Audit and Feedback Intervention Directed at Surgeons Unknown status NCT02583100
31 Validation of a Production Method of Stem Cell Isolated From the Nasal Cavity for an Innovative Cell Therapy of Cleft Palate Unknown status NCT02900014
32 Stentless Endoscopic Transnasal Transseptal Choanoplasty Unknown status NCT03167463
33 Inferior Alveolar Nerve Injury After Bilateral Sagittal Split Osteotomy in Oral Clefts Unknown status NCT01875965
34 Maxillary Expansion Treatment of Pediatric Obstructive Sleep Apnea Unknown status NCT01837914
35 Unilateral Cleft Repair in One Surgery With Pure Primary Healing Completed NCT04108416
36 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
37 Ultrasound Diagnosis of Cleft Lip and Palate - FENCHU Completed NCT03582111
38 Tympanometric Analysis in Post Surgical Individuals With Cleft Palate Completed NCT01820689
39 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
40 Electromyographic Analysis of the Masticatory Muscles in Cleft Lip and Palate Children With Pain-related Temporomandibular Disorders Completed NCT03308266
41 Use of Mesenchymal Stem Cells for Alveolar Bone Tissue Engineering for Cleft Lip and Palate Patients Completed NCT01932164
42 Periodontal Changes and Gingival Soft Tissue Healing Following Mid Maxillary Distraction in Cleft Lip and Palate Patients Completed NCT03686761
43 Systematic Pediatric Care for Oral Clefts - South America Completed NCT00097149
44 Sleep and Neurobehavioral Performance After Cleft Palate Repair Completed NCT01046591
45 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
46 Efficacia Del Trattamento Chirurgico Maxillo-facciale Sul Volto Dei Bambini Con Labiopalatoschisi: Valutazioni Estetiche ed Ortodontiche Completed NCT03395015
47 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
48 Svangerskap, Arv, Og Miljo (Pregnancy, Heredity and Environment) Completed NCT00340977
49 Articulatory and Phonological Competence at 3 and 5 Years of Age in Children With Unilateral Cleft Lip and Palate Who Have Undergone Different Methods of Primary Palatal Surgery Completed NCT00829101
50 Clinical, Volumetric and Densitometric Evaluation of Tissue Engineered (TE) Constructs for Secondary Alveolar Cleft Reconstruction (Short Term Randomized Controlled Clinical Trial) Completed NCT03563495

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, Skin, Heart, Tongue, Testes, Eye, Brain

Publications for Cleft Lip

Articles related to Cleft Lip:

(show top 50) (show all 12734)
# Title Authors PMID Year
1
Attitudes toward children with clefts in rural Muslim and Hindu societies. 61 54
20061939 2010
2
Identification of a Van der Woude syndrome mutation in the cleft palate 1 mutant mouse. 54 61
20196077 2010
3
p63 and IRF6: brothers in arms against cleft palate. 54 61
20424318 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
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. 61 54
19536562 2010
6
MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China. 61 54
20082468 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. 61 54
19715471 2009
10
Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. 61 54
19444471 2009
11
Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 61 54
19681128 2009
12
The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. 61 54
19536891 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. 54 61
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. 61 54
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]. 54 61
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. 54 61
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. 61 54
18161794 2008
26
Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate. 54 61
18356023 2008
27
Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe. 54 61
18452350 2008
28
Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes. 61 54
18209213 2008
29
A new mutation in TP63 is associated with age-related pathology. 54 61
17609671 2007
30
Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero. 61 54
17951123 2007
31
[Transmission disequilibrium test for nonsyndromic cleft lip and palate and segment homeobox gene-1 gene]. 61 54
18070437 2007
32
[Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate]. 54 61
17557248 2007
33
[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
34
Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil. 61 54
17581676 2007
35
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. 54 61
17431894 2007
36
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. 54 61
17438386 2007
37
EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. 54 61
17300690 2007
38
p63-associated disorders. 54 61
17224651 2007
39
Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. 54 61
17219389 2007
40
[Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft palate susceptibility]. 54 61
17456381 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. 61 54
16712703 2006
44
A mutation of the p63 gene in non-syndromic cleft lip. 61 54
16740912 2006
45
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 54 61
16674562 2006
46
[Study on the association between transforming growth factor alpha gene TaqI variant and cleft lip with or without cleft palate]. 61 54
16792897 2006
47
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
48
Mutation analysis of the MSX1 gene exons and intron in patients with nonsyndromic cleft lip and palate. 61 54
16687911 2006
49
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
50
MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. 54 61
16868654 2006

Variations for Cleft Lip

Expression for Cleft Lip

Search GEO for disease gene expression data for Cleft Lip.

Pathways for Cleft Lip

Pathways related to Cleft Lip according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 WNT3 TGFB3 TGFA FGFR1 CDH1
2 12.36 WNT3 TGFB3 TGFA FGFR1 CDH1 BMP4
3
Show member pathways
12.15 TGFB3 TGFA FGFR1 CDH1 BMP4
4
Show member pathways
11.93 TGFB3 TGFA IRF6 FGFR1 BMP4
5 11.86 WNT3 TGFB3 CDH1 BMP4
6 11.68 TP63 MSX1 IRF6 BMP4
7
Show member pathways
11.64 TGFA TFAP2A SUMO1
8 11.6 TGFB3 TGFA FGFR1
9 11.52 TGFB3 TGFA FGFR1 BMP4
10 11.43 NECTIN1 FGFR1 CDH1
11 11.36 TFAP2A MSX1 FGFR1 CDH1 BMP4
12 10.81 TGFB3 TGFA FGFR1 CDH1 BMP4
13 9.92 TP63 TGFB3 TFAP2A IRF6 ARHGAP29

GO Terms for Cleft Lip

Cellular components related to Cleft Lip according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 VAX1 TP63 TFAP2A TBX10 MSX1 IRF6

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 TP63 TGFB3 TFAP2A TBX10 MSX1 IRF6
2 negative regulation of transcription, DNA-templated GO:0045892 10.02 TP63 TFAP2A SUMO1 MSX1 BMP4
3 negative regulation of cell proliferation GO:0008285 9.97 TGFB3 TFAP2A MSX1 IRF6 BMP4
4 positive regulation of transcription, DNA-templated GO:0045893 9.91 TP63 TGFB3 TFAP2A PHF8 IRF6 CDH1
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.86 VAX1 TP63 TFAP2A TBX10 SUMO1 MSX1
6 cell morphogenesis GO:0000902 9.79 WNT3 MSX1 CDH1
7 BMP signaling pathway GO:0030509 9.78 TGFB3 MSX1 BMP4
8 odontogenesis of dentin-containing tooth GO:0042475 9.72 TP63 MSX1 BMP4
9 cell development GO:0048468 9.71 TGFB3 IRF6 BMP4
10 regulation of cell differentiation GO:0045595 9.69 TFAP2A FGFR1 BMP4
11 positive regulation of bone mineralization GO:0030501 9.67 TGFB3 TFAP2A BMP4
12 odontogenesis GO:0042476 9.65 TGFB3 MSX1 BMP4
13 middle ear morphogenesis GO:0042474 9.63 MSX1 FGFR1
14 anterior/posterior axis specification GO:0009948 9.63 WNT3 BMP4
15 embryonic limb morphogenesis GO:0030326 9.62 TP63 MSX1 FGFR1 BMP4
16 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.61 MSX1 BMP4
17 pituitary gland development GO:0021983 9.61 MSX1 CDH1 BMP4
18 positive regulation of SMAD protein signal transduction GO:0060391 9.6 TGFB3 BMP4
19 organ induction GO:0001759 9.59 FGFR1 BMP4
20 salivary gland morphogenesis GO:0007435 9.58 TGFB3 FGFR1
21 mammary gland epithelium development GO:0061180 9.58 WNT3 MSX1
22 anatomical structure formation involved in morphogenesis GO:0048646 9.58 WNT3 TP63 BMP4
23 BMP signaling pathway involved in heart development GO:0061312 9.52 MSX1 BMP4
24 cloacal septation GO:0060197 9.46 TP63 BMP4
25 embryonic forelimb morphogenesis GO:0035115 9.46 WNT3 TP63 TFAP2A MSX1
26 embryonic hindlimb morphogenesis GO:0035116 9.26 WNT3 TP63 MSX1 BMP4
27 roof of mouth development GO:0060021 9.02 VAX1 TFAP2A SUMO1 MSX1 IRF6

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 VAX1 TP63 TFAP2A TBX10 MSX1 IRF6
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.02 TP63 TFAP2A TBX10 MSX1 IRF6

Sources for Cleft Lip

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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