cleft lip and palate
SaudiVarKB evidence summary derived from retained literature mentions.
69Phenotype mentions
69Publications
39Associated gene records
16Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| PGAP3 | HGNC:23719 | 2 | 2 |
| RIC1 | HGNC:17686 | 2 | 2 |
| CS | HGNC:2422 | 1 | 1 |
| COL2A1 | HGNC:2200 | 1 | 1 |
| CP | HGNC:2295 | 1 | 1 |
| PGM1 | HGNC:8905 | 1 | 1 |
| GAD1 | HGNC:4092 | 1 | 1 |
| JPH1 | HGNC:14201 | 1 | 1 |
| FLNA | HGNC:3754 | 1 | 1 |
| PPP1R13L | HGNC:18838 | 1 | 1 |
| TELO2 | HGNC:29099 | 1 | 1 |
| RPS19 | HGNC:10402 | 1 | 1 |
| RPL5 | HGNC:10360 | 1 | 1 |
| RPL11 | HGNC:10301 | 1 | 1 |
| SOX9 | HGNC:11204 | 1 | 1 |
| TP63 | HGNC:15979 | 1 | 1 |
| SALL4 | HGNC:15924 | 1 | 1 |
| CHN1 | HGNC:1943 | 1 | 1 |
| HOXA1 | HGNC:5099 | 1 | 1 |
| TUBB3 | HGNC:20772 | 1 | 1 |
| RPL27A | HGNC:10329 | 1 | 1 |
| PAX9 | HGNC:8623 | 1 | 1 |
| RNF34 | HGNC:17297 | 1 | 1 |
| PPARA | HGNC:9232 | 1 | 1 |
| NRP1 | HGNC:8004 | 1 | 1 |
| CASP9 | HGNC:1511 | 1 | 1 |
| FAT4 | HGNC:23109 | 1 | 1 |
| GEMIN4 | HGNC:15717 | 1 | 1 |
| IRF6 | HGNC:6121 | 1 | 1 |
| GRHL3 | HGNC:25839 | 1 | 1 |
| KLF17 | HGNC:18830 | 1 | 1 |
| ESRP1 | HGNC:25966 | 1 | 1 |
| LOXL3 | HGNC:13869 | 1 | 1 |
| HYAL2 | HGNC:5321 | 1 | 1 |
| CYP51A1 | HGNC:2649 | 1 | 1 |
| TAPT1 | HGNC:26887 | 1 | 1 |
| TAF1A | HGNC:11532 | 1 | 1 |
| WDR87 | HGNC:29934 | 1 | 1 |
| VAX1 | HGNC:12660 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.354C>A | c.354C>A | 1 | 1 |
| p.Tyr118* | p.Tyr118* | 1 | 1 |
| c.373delG | c.373delG | 1 | 1 |
| c.1738delC | c.1738delC | 1 | 1 |
| c.1510delG | c.1510delG | 1 | 1 |
| p.Ser107Leu | p.Ser107Leu | 1 | 1 |
| p.Arg319Leu | p.Arg319Leu | 1 | 1 |
| p.Arg319His | p.Arg319His | 1 | 1 |
| rs121908839 | rs121908839 | 1 | 1 |
| p.Arg319Cys | p.Arg319Cys | 1 | 1 |
| rs35320960 | rs35320960 | 1 | 1 |
| rs199996172 | rs199996172 | 1 | 1 |
| rs395572 | rs395572 | 1 | 1 |
| rs6809420 | rs6809420 | 1 | 1 |
| rs4752028 | rs4752028 | 1 | 1 |
| rs7078160 | rs7078160 | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 6 | 6 |
| Population record | — | 5 | 5 |
| Saudi Arabia | — | 2 | 2 |
| Population record | Cohort 65 | 1 | 1 |
| Saudi Arabia · Riyadh | — | 1 | 1 |
| Population record | Cohort 11 | 1 | 1 |
| Population record | Cohort 1 | 1 | 1 |
| Saudi Arabia · Riyadh | — | 1 | 1 |
| Population record | Cohort 14 | 1 | 1 |
| Population record | Cohort 76 | 1 | 1 |
| Population record | Cohort 27 | 1 | 1 |
| Saudi Arabia · Eastern Province | — | 1 | 1 |
| Population record | Cohort 324 | 1 | 1 |
| Saudi Arabia · Medina | — | 1 | 1 |
| Population record | Cohort 45 | 1 | 1 |
| Saudi Arabia | Cohort 80 | 1 | 1 |
| Saudi Arabia | Cohort 319 | 1 | 1 |
| Saudi Arabia · Eastern Province | Cohort 7 | 1 | 1 |
| Population record | Cohort 166 | 1 | 1 |
| Saudi Arabia | Cohort 171 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 447 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 807 | 1 | 1 |
| Saudi Arabia | Cohort 174 | 1 | 1 |
| Saudi Arabia | Cohort 682 | 1 | 1 |
| Population record | Cohort 202 | 1 | 1 |
| Saudi Arabia · Jeddah | Cohort 37 | 1 | 1 |
| Riyadh | Cohort 171 | 1 | 1 |
Supporting publications
69 records- 2026Parental knowledge and access barriers in the management of cleft lip and/or palate: A cross-sectional study from Saudi Arabia.Medicine1 mentions
- 2026Cleft Lip with or without palate in seven countries with two income levels: a cross-sectional study.BMC oral health1 mentions
- 2026Bridging Orthodontics and Surgery: An Algorithm for the Management of Transverse Discrepancies in Orofacial Clefts.Journal of stomatology, oral and maxillofacial surgery1 mentions
- 2026Prevalence and patterns of cleft lip and palate in Eastern Province of Saudi Arabia: A nine-year retrospective study.National journal of maxillofacial surgery1 mentions
- 2025Pattern of Cleft Lip and Palate Clefts at a Tertiary Care Hospital in Saudi Arabia.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association1 mentions
- 2025Epidemiology of congenital anomalies in the Gulf Cooperation Council countries: a scoping review.BMJ open1 mentions
- 2025Clinical insights on the complications of TPM use during pregnancy-enabling expectant mothers to make informed choices for their health and the future of their offspring.European journal of obstetrics, gynecology, and reproductive biology1 mentions
- 2025Telehealth Delivery of Speech-Language Pathology Services for Children with Cleft Palate and Velopharyngeal Dysfunction: A Systematic Review.Children (Basel, Switzerland)1 mentions
- 2024Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.American journal of medical genetics. Part A1 mentions
- 2024Gene sequencing applications to combat oral-cavity related disorders: a systematic review with meta-analysis.BMC oral health1 mentions
- 2024Prenatal incidence of cleft lip/palate and cocaine abuse in parents: a systematic review and meta-analysis.BMC oral health1 mentions
- 2024STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients.Neuropediatrics1 mentions
- 2024Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?Neuropediatrics1 mentions
- 2024Harnessing the Power of Artificial Intelligence in Cleft Lip and Palate: An In-Depth Analysis from Diagnosis to Treatment, a Comprehensive Review.Children (Basel, Switzerland)1 mentions
- 2024Assessment of non-syndromic orofacial cleft severity and associated environmental factors in Saudi Arabia: A cross-sectional study.The Saudi dental journal1 mentions
- 2024The application of zebrafish model in the study of cleft lip and palate development: A systematic review.Heliyon1 mentions
- 2024A Rare Case of Paramedian Cleft Palate.African journal of paediatric surgery : AJPS1 mentions
- 2024Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.Case reports in genetics1 mentions
- 2024Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.Journal of medical genetics1 mentions
- 2024Cleft lip and palate and periconception COVID-19 infection in five arab countries.Clinical oral investigations1 mentions
- 2024Treacher Collins syndrome: A comprehensive review on clinical features, diagnosis, and management.Journal of family medicine and primary care1 mentions
- 2024Dental Anomalies in Saudi Arabia: A Systematic Review.Healthcare (Basel, Switzerland)1 mentions
- 2023TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.American journal of medical genetics. Part A1 mentions
- 2023Prevalence and Patterns of Orofacial Clefts among Children from Different Regions of Saudi Arabia: A Systematic Review.International journal of clinical pediatric dentistry1 mentions
- 2023A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.Molecular genetics & genomic medicine1 mentions
- 2023Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.Molecular genetics and metabolism1 mentions
- 2023The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report.Cureus1 mentions
- 2022Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.American journal of medical genetics. Part A1 mentions
- 2022Efficacy of digital nasoalveolar molding in reducing severity of cleft lip or palate malformation in infants: a systematic review protocol.JBI evidence synthesis1 mentions
- 2021International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.Journal of inherited metabolic disease1 mentions
- 2021The prevalence of non-syndromic orofacial clefts and associated congenital heart diseases of a tertiary hospital in Riyadh, Saudi Arabia.The Saudi dental journal1 mentions
- 2021The clinical significance and correlative signaling pathways of paired box gene 9 in development and carcinogenesis.Biochimica et biophysica acta. Reviews on cancer1 mentions
- 2021Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.Molecular syndromology1 mentions
- 2021Current Applications of Artificial Intelligence in Cleft Care: A Scoping Review.Frontiers in medicine1 mentions
- 2021Mothers' knowledge and experience concerning presurgical orthopedic management for infants with cleft lip and palate.Journal of orthodontic science1 mentions
- 2020Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.Nature medicine1 mentions
- 2020Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.Brain : a journal of neurology1 mentions
- 2020Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.American journal of medical genetics. Part A1 mentions
- 2020Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.European journal of medical genetics1 mentions
- 2020Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family.Genetic testing and molecular biomarkers1 mentions
- 2019Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients.Genetic testing and molecular biomarkers1 mentions
- 2019Impacted maxillary canine in unilateral cleft lip and palate: A literature review.The Saudi dental journal1 mentions
- 2019Posterior Microphthalmia, Peripheral Pigmentary Retinal Changes, Yellow Lesions, and Cleft Lip: A Case Report and Literature Review.Case reports in ophthalmological medicine1 mentions
- 2018Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.Clinical genetics1 mentions
- 2018Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample.Birth defects research1 mentions
- 2018Birth Prevalence of Orofacial Clefts in Kuwait From Hospital-Based Registration: Retrospective Study.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association1 mentions
- 2018Congenital Esophageal Atresia and Microtia in a Newborn Secondary to Mycophenolate Mofetil Exposure During Pregnancy: A Case Report and Review of the Literature.The American journal of case reports1 mentions
- 2017Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.Human genetics1 mentions
- 2017Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.PLoS genetics1 mentions
- 2017Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.Molecular genetics & genomic medicine1 mentions
- 2016Possible association between acetazolamide administration during pregnancy and multiple congenital malformations.Drug design, development and therapy1 mentions
- 2016Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.Journal of human genetics1 mentions
- 2016Multiple pterygium syndrome: Challenge for anesthesiologist.Saudi journal of anaesthesia1 mentions
- 2015LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.Human genetics1 mentions
- 2015Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity.Saudi medical journal1 mentions
- 2015Prevalence of selected congenital anomalies in Saudi children: a community-based study.Annals of Saudi medicine1 mentions
- 2014Fibronectin and craniofacial surgery.Annals of plastic surgery1 mentions
- 2014Attitudes of Saudi parents with a deaf child towards prenatal diagnosis and termination of pregnancy.Prenatal diagnosis1 mentions
- 2014Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome.Ophthalmic genetics1 mentions
- 2014Prevalence and characteristics of non-syndromic orofacial clefts and the influence of consanguinity.The Journal of clinical pediatric dentistry1 mentions
- 2014Prevalence and types of articulation errors in Saudi Arabic-speaking children with repaired cleft lip and palate.International journal of pediatric otorhinolaryngology1 mentions
- 2014Fiberoptic intubation through laryngeal mask airway for management of difficult airway in a child with Klippel-Feil syndrome.Saudi journal of anaesthesia1 mentions
- 2013Renal failure in Hay-Wells syndrome.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2012Consanguinity and occurrence of cleft lip/palate: a hospital-based registry study in Riyadh.American journal of medical genetics. Part A1 mentions
- 2011Pattern of craniofacial anomalies seen in a tertiary care hospital in Saudi Arabia.Annals of Saudi medicine1 mentions
- 2011Tracing disease gene(s) in non-syndromic clefts of orofacial region: HLA haplotypic linkage by analyzing the microsatellite markers: MIB, C1_2_5, C1_4_1, and C1_2_A.Indian journal of human genetics1 mentions
- 2008Pattern of cleft lip and palate in hospital-based population in Saudi Arabia: retrospective study.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association1 mentions
- 2007Congenital pyloric atresia and associated anomalies.Pediatric surgery international1 mentions
- 1995Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes.American journal of medical genetics1 mentions