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FLP
MCID: CLF004
MIFTS: 57

Cleft Lip/palate (FLP)

Categories: Ear diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cleft Lip/palate

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MalaCards integrated aliases for Cleft Lip/palate:

Name: Cleft Lip/palate 58 29 6
Cleft Lip and Palate 58 6 42
Cleft Lip-Alveolus-Palate Syndrome 58
Alveolar Cleft Lip and Palate 58
Flp 58

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


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Summaries for Cleft Lip/palate

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MedlinePlus : 42 Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip. Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the "palate." With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open. Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life. Centers for Disease Control and Prevention

MalaCards based summary : Cleft Lip/palate, also known as cleft lip and palate, 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/palate is DLX4 (Distal-Less Homeobox 4), and among its related pathways/superpathways are G-protein signaling RAC1 in cellular process and Immune response IFN alpha/beta signaling pathway. The drugs Ketorolac and Methylene blue have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and eye, and related phenotypes are abnormality of dental eruption and delayed speech and language development

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Related Diseases for Cleft Lip/palate

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

(show top 50) (show all 572)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate-ectodermal dysplasia syndrome 33.4 TP63 NECTIN1 IRF6 FOXE1
2 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 33.3 TP63 NECTIN1 IRF6 FGFR1 EEC1
3 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 33.2 TP63 LOC111162620
4 popliteal pterygium syndrome 32.5 NECTIN1 MSX1 IRF6 FOXE1 ARHGAP29
5 orofacial cleft 8 32.4 TP63 LOC111162620 IRF6
6 bartsocas-papas syndrome 32.3 TP63 IRF6
7 crouzon syndrome 31.8 MSX1 FGFR1 BMP4
8 ectodermal dysplasia 31.7 TP63 NECTIN1 MSX1 EEC1 CDH1
9 van der woude syndrome 1 31.2 TP63 NECTIN1 MSX1 IRF6 FOXE1 BMP4
10 isolated cleft lip 31.2 TP63 NECTIN1 MSX1 IRF6 FOXE1
11 tooth size 31.0 MSX1 BMP4
12 cleft lip and alveolus 30.9 TP63 NECTIN1 MSX1 IRF6
13 chromosome 2q35 duplication syndrome 30.6 TP63 NECTIN1 MSX1 IRF6 FGFR1 BMP4
14 cleft lip 30.3 YAP1 VWA8 TP63 TGFA NECTIN1 MTHFR
15 cleft lip with or without cleft palate 30.3 TGFA NECTIN1 MTHFR MSX1 IRF6 FOXE1
16 cleft palate, isolated 30.2 TP63 TGFA NECTIN1 MTHFR MSX1 IRF6
17 tooth agenesis 30.2 TP63 TGFA NECTIN1 MSX1 IRF6 FGFR1
18 ankyloglossia with or without tooth anomalies 30.1 MSX1 IRF6
19 stickler syndrome 29.9 MSX1 IRF6 BMP4
20 orofacial cleft 29.1 TP63 TGFA NECTIN1 MTHFR MSX1 LOC111162620
21 ankyloblepharon-ectodermal defects-cleft lip/palate 12.0
22 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 11.9
23 hartsfield syndrome 11.8
24 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.8
25 cleft palate, cardiac defects, and mental retardation 11.7
26 vici syndrome 11.7
27 rapp-hodgkin syndrome 11.7
28 orofaciodigital syndrome vi 11.7
29 acrofrontofacionasal dysostosis 11.6
30 juberg-hayward syndrome 11.6
31 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.5
32 richieri-costa/guion-almeida syndrome 11.5
33 ectrodactyly and ectodermal dysplasia without cleft lip/palate 11.5
34 kapur-toriello syndrome 11.5
35 roberts-sc phocomelia syndrome 11.5
36 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 11.4
37 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.4
38 orofacial cleft 1 11.4
39 acrofrontofacionasal dysostosis 1 11.4
40 crane-heise syndrome 11.4
41 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease 11.4
42 sakoda complex 11.4
43 medeira-dennis-donnai syndrome 11.4
44 cleft lip/palate-deafness-sacral lipoma syndrome 11.4
45 cleft lip and palate malrotation cardiopathy 11.4
46 short-rib thoracic dysplasia 7 with or without polydactyly 11.3
47 samson viljoen syndrome 11.3
48 fetal hydantoin syndrome 11.3
49 hypertelorism, microtia, facial clefting syndrome 11.3
50 microphthalmia, syndromic 11 11.3

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



Diseases related to Cleft Lip/palate
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Symptoms & Phenotypes for Cleft Lip/palate

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Human phenotypes related to Cleft Lip/palate:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of dental eruption 58 31 hallmark (90%) Very frequent (99-80%) HP:0006292
2 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
3 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
4 poor suck 58 31 frequent (33%) Frequent (79-30%) HP:0002033
5 oral-pharyngeal dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0200136
6 velopharyngeal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000220
7 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
8 unilateral cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0100334
9 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
10 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
11 nasal speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001611
12 malnutrition 58 31 occasional (7.5%) Occasional (29-5%) HP:0004395
13 abnormal number of permanent teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0011044
14 bilateral cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0100337
15 peg-shaped maxillary lateral incisors 58 31 occasional (7.5%) Occasional (29-5%) HP:0006342
16 palate fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0010294
17 agenesis of lateral incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0200153
18 hypoplasia of the maxilla 58 31 very rare (1%) Very rare (<4-1%) HP:0000327
19 feeding difficulties in infancy 58 Frequent (79-30%)
20 cleft palate 58 Frequent (79-30%)
21 oral cleft 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Cleft Lip/palate:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ARHGAP29 BMP4 CDH1 DLG1 FGFR1 FOXE1
2 craniofacial MP:0005382 10.24 AMOTL1 ARHGAP29 BMP4 DLG1 FGFR1 FOXE1
3 digestive/alimentary MP:0005381 10.22 ARHGAP29 BMP4 CDH1 DLG1 FGFR1 FOXE1
4 embryo MP:0005380 10.16 ARHGAP29 BMP4 CDH1 DLG1 FGFR1 INTU
5 integument MP:0010771 10.11 BMP4 CDH1 FGFR1 FOXE1 IRF6 MSX1
6 mortality/aging MP:0010768 10.1 AMOTL1 ARHGAP29 BMP4 CDH1 DLG1 FGFR1
7 endocrine/exocrine gland MP:0005379 10.09 BMP4 CDH1 DLG1 FGFR1 FOXE1 MSX1
8 limbs/digits/tail MP:0005371 9.92 BMP4 DLG1 FGFR1 INTU IRF6 MSX1
9 muscle MP:0005369 9.7 BMP4 DLG1 FGFR1 MSX1 TGFA TP63
10 skeleton MP:0005390 9.65 BMP4 DLG1 FGFR1 INTU IRF6 MSX1
11 vision/eye MP:0005391 9.28 BMP4 DLG1 FGFR1 INTU MSX1 MTHFR
Sources

Drugs & Therapeutics for Cleft Lip/palate

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
2
Methylene blue Approved, Investigational Phase 4 61-73-4
3
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
6
Remifentanil Approved Phase 4 132875-61-7 60815
7
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
10
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
11 Analgesics, Non-Narcotic Phase 4
12 Cyclooxygenase Inhibitors Phase 4
13 Analgesics Phase 4
14 Antirheumatic Agents Phase 4
15 Anti-Inflammatory Agents Phase 4
16 Anti-Inflammatory Agents, Non-Steroidal Phase 4
17 Anesthetics Phase 4
18 Antibiotics, Antitubercular Phase 4
19 Hemostatics Phase 4
20 Fibrin Tissue Adhesive Phase 4
21 Clindamycin phosphate Phase 4
22 Anti-Bacterial Agents Phase 4
23 Clindamycin palmitate Phase 4
24 penicillins Phase 4
25 Narcotics Phase 4
26 Analgesics, Opioid Phase 4
27 Anesthetics, Intravenous Phase 4
28 Anesthetics, General Phase 4
29 Adrenergic alpha-Agonists Phase 4
30 Excitatory Amino Acid Antagonists Phase 4
31 Hypnotics and Sedatives Phase 4
32 Adrenergic Agents Phase 4
33 Neurotransmitter Agents Phase 4
34 Anesthetics, Dissociative Phase 4
35 Adrenergic Agonists Phase 4
36
Morphine Approved, Investigational 57-27-2 5288826
37 Daminozide 1596-84-5

Interventional clinical trials:

(show top 50) (show all 54)
# Name Status NCT ID Phase Drugs
1 Ketorolac in Palatoplasty: A Randomized Blinded Controlled Trial. Not yet recruiting NCT04771156 Phase 4 Ketorolac;Placebo
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 Opioid Free Anaesthesia vs Opioid Based Anesthesia in Cleft Lip, Palate ,Alveolus Surgery. Not yet recruiting NCT04081909 Phase 4 Fentanyl，Remifentanil;Ketamine,Dexmedetomidine
4 Bone Tissue Engineering With Dental Pulp Stem Cells for Alveolar Cleft Repair Completed NCT03766217 Phase 3
5 Velopharyngeal Function for Speech After Palatal Surgery Completed NCT00004639 Phase 2
6 Distraction Versus Orthognathic Surgery - Which One is Better for Cleft Palate Patients Completed NCT00930124 Phase 2
7 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
8 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
9 Stability of One-Piece Le Fort I Osteotomy Versus Segmental Le Fort I Osteotomy: A Prospective Study Unknown status NCT01871623
10 Distribution Of ABO Blood Groups In Relation To Cleft Lip And/or Palate . Unknown status NCT03217890
11 Evaluation of Arch Dimensions of Children With Surgically Repaired Unilateral Cleft Lip and Palate: A Cross Sectional Study Unknown status NCT03219021
12 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
13 Follow Ups of Parents With Infants With Cleft Lip and Palate Unknown status NCT02415361
14 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
15 Unilateral Cleft Repair in One Surgery With Pure Primary Healing Completed NCT04108416
16 Use of Mesenchymal Stem Cells for Alveolar Bone Tissue Engineering for Cleft Lip and Palate Patients Completed NCT01932164
17 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
18 Clinical, Volumetric and Densitometric Evaluation of Tissue Engineered (TE) Constructs for Secondary Alveolar Cleft Reconstruction (Short Term Randomized Controlled Clinical Trial) Completed NCT03563495
19 Ultrasound Diagnosis of Cleft Lip and Palate - FENCHU Completed NCT03582111
20 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
21 Otologic and Rhinologic Outcomes in Children With Cleft Palate at Age 10 Years Completed NCT03708406
22 Periodontal Changes and Gingival Soft Tissue Healing Following Mid Maxillary Distraction in Cleft Lip and Palate Patients Completed NCT03686761
23 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
24 Electromyographic Analysis of the Masticatory Muscles in Cleft Lip and Palate Children With Pain-related Temporomandibular Disorders Completed NCT03308266
25 Efficacia Del Trattamento Chirurgico Maxillo-facciale Sul Volto Dei Bambini Con Labiopalatoschisi: Valutazioni Estetiche ed Ortodontiche Completed NCT03395015
26 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
27 Effect of Alveolar Bone Grafting on Health Quality in Patients With Cleft Lip and Palate Completed NCT03549039
28 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
29 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
30 OSAS in Children With Cleft Lip/Palate Completed NCT00156442
31 Relational Development in Children With Cleft Lips and Palates: Influence of the Waiting Period Prior to the First Surgical Intervention and the Parents' Psychological Perception of the Abnormality Completed NCT00993993
32 Does an Audio-visual Aid Reduce Anxiety and Improve the Understanding of Children Undergoing an Alveolar Bone Graft: Randomised Control Trial Recruiting NCT04381078
33 Assessment of the Impact of the Use of the ARA 2 Connected Toothbrush on Short-term Oral Hygiene During the Pre-operative Period of Alveolar Bone Grafts for Patients With Unilateral or Bilateral Cleft Lip and Palate. Oral Hygiene and Connected Toothbrush Before Alveolar Bone Graft for Cleft Lip and Palate. Recruiting NCT03750708
34 Three Dimensional Analysis of Maxillofacial Growth in Patients With Cleft Lip and Palate Recruiting NCT03514563
35 DynaCleft® Effects on Soft Tissues and on Quality of Life for Incomplete Unilateral Cleft Lip Infants Recruiting NCT04455035
36 Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC Recruiting NCT03065686
37 Use of Computer Aided Design and 3D Printing for Anesthesiology Management in a Pediatric Patient With Cleft Facial Defect: Pilot Trial Recruiting NCT04422964
38 Simplifying Home Weight Monitoring for Infants With Cleft Lip and/or Palate Differences to Determine if Use of an In-home Scale Leads to Better Compliance With Weight Monitoring Recommendations Recruiting NCT04384276
39 Effectiveness of Two Rapid Maxillary Expanders (Quadhelix vs Hyrax) in Improving the Transverse Skeletal and Dental Dimensions in Patients With Cleft Lip and Palate: A Randomized Clinical Trial Recruiting NCT04331977
40 Effectiveness of Nasal-alar Elevator (NE) Combined With Taping Vs. Taping Alone on Improving the Nose Esthetics and Maxillary Arch Dimensions in Infants With Unilateral Complete Cleft Lip and Palate: A Randomized Clinical Trial Recruiting NCT04331379
41 Collaborative, Comparative Study on Three-dimensional Cleft Lip and Palate Morphology Prior to One-stage Cleft Repair (Warsaw/Basel) Recruiting NCT04616690
42 Fabrication of NAM Appliance in CLP From Digital MRI Face Scan Recruiting NCT04369638
43 Microimplant-assisted Rapid Palatal Expansion Appliance to Orthopedically Correct Midface Deficiency in Patients With Cleft Lip and Palate: a Randomized Clinical Trial Recruiting NCT04354116
44 Neural Network to Calculate Morphology of the Cleft Palate to Reduce Cleft Lip and Palate Treatment Burden. Recruiting NCT04342234
45 Evaluation of Quality of Life After Orthognathic Surgery in a Cleft Lip and Palate Context Recruiting NCT04049058
46 Efficacy of Nasoalveolar Molding Therapy for Treatment of Unilateral Cleft Lip and Palate in Egyptian Infants Active, not recruiting NCT03029195
47 Clinical Effectiveness of Late Maxillary Protraction for Cleft Lip and Palate Active, not recruiting NCT02789787
48 Allied Cleft & Craniofacial Quality-Improvement and Research Network (ACCQUIREnet): Prospective Data-collection System and Learning Health-care Network for the Comprehensive Appraisal of Cleft and Craniofacial Care Enrolling by invitation NCT02702869
49 National Treatment Approach Versus Standardized Treatment Protocol to Manage Patients With Cleft Lip and Palate: a Cross Sectional Study Not yet recruiting NCT04696237
50 Use of Computer Aided Design and 3D Printing for Anesthesiology Management in a Pediatric Patient With Cleft Facial Defect Not yet recruiting NCT04422847

Search NIH Clinical Center for Cleft Lip/palate

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Genetic Tests for Cleft Lip/palate

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Genetic tests related to Cleft Lip/palate:

# Genetic test Affiliating Genes
1 Cleft Lip/palate 29
Sources

Anatomical Context for Cleft Lip/palate

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MalaCards organs/tissues related to Cleft Lip/palate:

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

Publications for Cleft Lip/palate

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Articles related to Cleft Lip/palate:

(show top 50) (show all 8208)
# Title Authors PMID Year
1
Evaluation of tooth size in non-syndromic cleft lip and palate patients: A retrospective Italian study. 42 61
33719480 2021
2
Evaluation of cone beam computed tomography referral profile: Retrospective study in a Turkish paediatric subpopulation. 42
33719486 2021
3
"Mine did not breastfeed", mothers' experiences in breastfeeding children aged 0 to 24 months with oral clefts in Uganda. 42
33516176 2021
4
The application of three-dimensional ultrasound with reformatting technique in the diagnosis of fetal cleft lip/palate. 61
33665816 2021
5
Computer-Aided Design and Manufacture of Intraoral Splints: A Potential Role in Cleft Care. 61
33444946 2021
6
Tissue-specific analysis of Fgf18 gene function in palate development. 61
33034111 2021
7
Pre-operative and post-operative audiological assessment in cleft lip and palate patients-a prospective study. 61
33786295 2021
8
Perception of quality of life by children and adolescents with cleft lip/palate after orthodontic and surgical treatment: gender and age analysis. 61
33791877 2021
9
Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature. 61
33662639 2021
10
Mind the Gap: Alveolar Bone Graft Revision in the Era of Computed Tomography. 61
33789502 2021
11
Relationship between dental calcification of mandibular teeth and cervical vertebrae maturity in patients with unilateral complete cleft lip and palate. 61
32240493 2021
12
Correction to: A novel method for alveolar bone grafting assessment in cleft lip and palate patients: cone-beam computed tomography evaluation. 61
32929624 2021
13
Caries Experience Varies in Egyptian Children With Different Combinations of Cleft Lip and Palate and Is Related to Carbohydrate Intake Between Meals. 61
32856481 2021
14
Maxillary Protraction Therapy in Class III Patients With and Without Cleft Lip and Palate: An Interim Report of a Prospective Comparative Study. 61
32985240 2021
15
The Method of Surgical Lip Repair Affects Speech Outcomes in Children With Bilateral Cleft Lip and Palate. 61
32959681 2021
16
A novel method for alveolar bone grafting assessment in cleft lip and palate patients: cone-beam computed tomography evaluation. 61
32803441 2021
17
Bite force assessment before and after orthognathic surgery in individuals with repaired cleft lip and palate. 61
33537185 2021
18
Online Cleft Educational Videos: Parent Preferences. 61
32929983 2021
19
Evaluation of airflow characteristics before and after septoplasty in unilateral cleft patients with a deviated nasal septum: a computational fluid dynamics study. 61
32861556 2021
20
Closure of large alveolar defect by maxillary alveolar distraction using a vector-controlled distractor appliance in cleft patients: A pilot study. 61
33680751 2021
21
The concordance rate of non-chromosomal congenital malformations in twins based on zygosity: a retrospective cohort study. 61
32783284 2021
22
Oromandibular Limb Hypogenesis Syndrome: Overlap of Moebius and Ankyloglossia Superior With Severe Limb Defects. 61
32909817 2021
23
The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. 61
33640723 2021
24
Study on the role of methylation in nonsyndromic cleft lip with or without cleft palate using a monozygotic twin model. 61
33667834 2021
25
An Exploratory Study of Speech and Language Therapy Intervention for Children Born With Cleft Palate ± Lip. 61
32945191 2021
26
Empowerment of Parents of Children With Cleft Lip and Palate by Objective Scoring of Patient Information Websites. 61
33770038 2021
27
The Impact of Palatal Fistulae on the Success of Alveolar Bone Grafting. 61
33705068 2021
28
Analysis of Clinical Pathway for Patients With Cleft Lip and Palate. 61
33704960 2021
29
Trajectories of the Psychological Status of Mothers of Infants With Nonsyndromic Orofacial Clefts: A Prospective Cohort Study From the Japan Environment and Children's Study. 61
32844663 2021
30
Facial malformations, including cleft lip and palate, in wild primates in Paraguay. 61
33675242 2021
31
Factors Associated With Delay in Cleft Surgery at a Tertiary Children's Hospital in a Major US Metropolitan City. 61
33648362 2021
32
Patient satisfaction and quality of life after orthodontic treatment for cleft lip and palate deformity. 61
33683466 2021
33
Variations in Orofacial Clefts. 61
33705067 2021
34
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement. 61
33724704 2021
35
PIWI-interacting RNA sequencing profiles in maternal plasma-derived exosomes reveal novel non-invasive prenatal biomarkers for the early diagnosis of nonsyndromic cleft lip and palate. 61
33639402 2021
36
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome. 61
33713555 2021
37
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. 61
33736665 2021
38
Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level. 61
33786756 2021
39
Dens Invaginatus in Patients With Cleft Lip and Palate: A Case Series. 61
33663245 2021
40
An Extended 45-year Long-term Follow-up on a 1-13 Rare Facial Cleft Patient. 61
33770026 2021
41
Incidence of cleft-related speech problems in children with an isolated cleft lip. 61
32500400 2021
42
Targeted biologic inhibition of both tumor cell-intrinsic and intercellular CLPTM1L/CRR9-mediated chemotherapeutic drug resistance. 61
33654182 2021
43
Are Dental Maturation, Skeletal Maturation, and Chronological Age Associated With Complete Cleft Lip and Palate? 61
32744082 2021
44
Evaluation of Nasal Patency Among Patients With Unilateral Cleft Lip and Palate: Cleft Versus Non-Cleft Side. 61
32815388 2021
45
Three-Dimensional Analysis of the Pharyngeal Airway Volume and Craniofacial Morphology in Patients With Bilateral Cleft Lip and Palate. 61
32812438 2021
46
Cleft Lip and Palate YouTube Videos: Content Usefulness and Sentiment Analysis. 61
32812449 2021
47
Scandcleft randomized trials of primary surgery for unilateral cleft lip and palate: impact of maxillary dental agenesis on craniofacial growth and dental arch relationship in 8 year olds. 61
33693582 2021
48
Comparison of speech outcomes using type 2b intravelar veloplasty or furlow double-opposing Z plasty for soft palate repair of patients with unilateral cleft lip and palate. 61
33485752 2021
49
Anthropometric Parameters of Nasomaxillary Complex in 2, 4, 6, and 12-Month-Old Children as a Reference for Cleft Lip and Palate Reconstructive Surgery. 61
33704989 2021
50
Rasch Analysis of Patient- and Parent-Reported Outcome Measures in the International Consortium for Health Outcomes Measurement Standard Set for Cleft Lip and Palate. 61
33641775 2021
Sources

Variations for Cleft Lip/palate

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ClinVar genetic disease variations for Cleft Lip/palate:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMOTL1 NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) SNV Likely pathogenic 929484 GRCh37: 11:94532835-94532835
GRCh38: 11:94799669-94799669
2 CDH1 NM_004360.5(CDH1):c.895G>A (p.Ala299Thr) SNV Uncertain significance 979047 GRCh37: 16:68845649-68845649
GRCh38: 16:68811746-68811746
3 CDH1 NM_004360.5(CDH1):c.1926C>A (p.Tyr642Ter) SNV Uncertain significance 979049 GRCh37: 16:68856118-68856118
GRCh38: 16:68822215-68822215
Sources

Expression for Cleft Lip/palate

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Search GEO for disease gene expression data for Cleft Lip/palate.
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Pathways for Cleft Lip/palate

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

# Super pathways Score Top Affiliating Genes
1
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.06 TGFA FGFR1 DLG1 CDH1 BMP4
2
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 11.91 TGFA IRF6 FGFR1 BMP4
3
Hippo signaling pathway 36
11.75 YAP1 DLG1 CDH1 BMP4
4
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.58 TP63 MSX1 IRF6 BMP4
5
Adherens junction 36
11.35 NECTIN1 FGFR1 CDH1
6
Neural Crest Differentiation 1
11.27 MSX1 FGFR1 CDH1 BMP4
7
Signaling by Hippo 65
10.76 YAP1 AMOTL1
8
Hypothetical Craniofacial Development Pathway 1
9.7 TP63 IRF6 ARHGAP29
Sources

GO Terms for Cleft Lip/palate

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

# Name GO ID Score Top Affiliating Genes
1 apical junction complex GO:0043296 8.62 NECTIN1 CDH1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10 YAP1 TP63 IRF6 FOXE1 CDH1 BMP4
2 positive regulation of cell proliferation GO:0008284 9.99 YAP1 TGFA FGFR1 DLG1 BMP4
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.98 YAP1 TP63 MSX1 FOXE1 DLX4 DLG1
4 positive regulation of osteoblast differentiation GO:0045669 9.74 YAP1 TP63 BMP4
5 positive regulation of epithelial cell proliferation GO:0050679 9.73 YAP1 TGFA BMP4
6 odontogenesis of dentin-containing tooth GO:0042475 9.69 TP63 MSX1 BMP4
7 embryonic digit morphogenesis GO:0042733 9.65 MSX1 INTU BMP4
8 embryonic limb morphogenesis GO:0030326 9.63 TP63 MSX1 BMP4
9 camera-type eye morphogenesis GO:0048593 9.62 NECTIN1 BMP4
10 embryonic morphogenesis GO:0048598 9.62 MSX1 BMP4
11 anatomical structure formation involved in morphogenesis GO:0048646 9.61 TP63 BMP4
12 embryo development GO:0009790 9.61 DLX4 DLG1
13 establishment of planar polarity GO:0001736 9.6 TP63 INTU
14 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.58 MSX1 BMP4
15 smooth muscle tissue development GO:0048745 9.58 DLG1 BMP4
16 bud elongation involved in lung branching GO:0060449 9.55 YAP1 BMP4
17 hard palate development GO:0060022 9.54 FOXE1 DLG1
18 pituitary gland development GO:0021983 9.54 MSX1 CDH1 BMP4
19 embryonic hindlimb morphogenesis GO:0035116 9.5 TP63 MSX1 BMP4
20 BMP signaling pathway involved in heart development GO:0061312 9.49 MSX1 BMP4
21 roof of mouth development GO:0060021 9.46 MSX1 IRF6 INTU FOXE1
22 hair follicle morphogenesis GO:0031069 9.43 TP63 INTU FOXE1
23 cloacal septation GO:0060197 9.4 TP63 BMP4
24 keratinocyte differentiation GO:0030216 9.26 YAP1 TP63 IRF6 INTU
25 cranial skeletal system development GO:1904888 8.8 TP63 IRF6 FOXE1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.02 TP63 MSX1 IRF6 FOXE1 DLX4
Sources

Sources for Cleft Lip/palate

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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