eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cleft palate |
| Symptom | |cleft lip |
| Sentences | 274 |
| PubMedID- 21781437 | Maternal c677t mthfr genotype has been identified as important factor in cleft lip with or without cleft palate (cl/p) etiology. |
| PubMedID- 24800624 | Findings from random effects meta-analyses suggest no relationship between prenatal alcohol consumption and the occurrence of ofcs {pooled odds ratios for any alcohol intake and binge level drinking respectively: cleft lip with or without cleft palate 1.00 from 18,349 participants in 13 studies, 1.04 7730 participants, 4 studies}. |
| PubMedID- 20963351 | It was found that among the 5 patients, 2 had incomplete right cleft lip with incomplete cleft palate, 2 were affected by left incomplete cleft lip and incomplete cleft palate, and 1 had a cleft lip and palate associated with complete right cleft palate. |
| PubMedID- 21112484 | Genome-wide and interaction linkage scan for nonsyndromic cleft lip with or without cleft palate in two multiplex families in shenyang, china. |
| PubMedID- 22302702 | Patients were classified in two distinct groups: cleft lip with or without cleft palate (cl +/- p) and isolated cleft palate (cp). |
| PubMedID- 21683068 | Single-nucleotide polymorphisms (snps) of the irf6 and tfap2a in non-syndromic cleft lip with or without cleft palate (nsclp) in a northern chinese population. |
| PubMedID- 25613075 | cleft lip with or without cleft palate is one of the most common birth defects of unknown etiology. |
| PubMedID- 24446087 | Background: although genome-wide association studies have identified several susceptibility loci for nonsyndromic cleft lip with or without cleft palate (nscl/p) in populations around the world, the role of most loci is unknown in the highly heterogeneous brazilian population. |
| PubMedID- 21564312 | New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate. |
| PubMedID- 22781422 | Data from a previous study of the association between mthfr c677t and cleft lip with or without cleft palate (cl/p) was analyzed, in order to investigate the maternal effect, fetal effect and their interaction, using a series of log-linear models. |
| PubMedID- 25704602 | Identification of functional variants for cleft lip with or without cleft palate in or near pax7, fgfr2, and nog by targeted sequencing of gwas loci. |
| PubMedID- 21781440 | The approach was a family based association study involving a total of 512 italian patients and their parents, 401 having cleft lip with or without cleft palate (cl/p) and 111 with cleft palate only (cpo). |
| PubMedID- 25918826 | The aetiology of nonsyndromic cleft lip with or without cleft palate (nsclp) is complex and involves both genetic and environmental risk factors. |
| PubMedID- 24606907 | Background: non-syndromic cleft lip with or without cleft palate (nscl/p) is a common structural malformation with a complex and multifactorial aetiology. |
| PubMedID- 20634891 | We analyzed isolated cleft lip with or without cleft palate (icl/p) and isolated cleft palate only (icp) separately and assessed replication by looking for genes detected in both populations by both methods. |
| PubMedID- 23512105 | A collection of 1,108 case-parent trios ascertained through an isolated, nonsyndromic cleft lip with or without cleft palate (cl/p) was used to replicate the findings from a genome-wide association study (gwas) conducted by beaty et al. |
| PubMedID- 21728810 | Introduction: branchio-oculo-facial syndrome (bofs) is a rare autosomal dominant congenital disorder defined by branchial defects, ocular anomalies and craniofacial malformations, including variable degrees of cleft lip with or without cleft palate. |
| PubMedID- 23893927 | Methods: data on 6045 nonsyndromic isolated oral cleft cases (3915 cleft lip with or without cleft palate cl +/- p and 2130 nonsyndromic isolated cleft palate cp cases) delivered between 1999 and 2008 were obtained from the texas birth defects registry. |
| PubMedID- 25155265 | Recently, the jumoji at-rich interaction domain 2 (jarid2) had been reported to be a novel candidate gene for non-syndromic cleft lip with or without cleft palate (cl/p). |
| PubMedID- 25257647 | Background: the heritable multifactorial etiology of human nonsyndromic cleft lip with or without cleft palate (cl +/- p) is not understood. |
| PubMedID- 22917484 | Objective: the objective of this study was to evaluate the association between the use of monotherapy topiramate in pregnancy and cleft lip with or without cleft palate (cl/p) in the offspring. |
| PubMedID- 22374000 | Updating the epidemiology of cleft lip with or without cleft palate. |
| PubMedID- 21612398 | On the contrary, mthfr 1298 ac and 1298 ac/cc appeared to be protective against cleft lip with cleft palate. |
| PubMedID- 20572780 | cleft lip associated with cleft palate (clp) was the most common type of anomaly (53.5%), followed by isolated cleft lip (cl; 28.7%) and isolated cleft palate (cp; 17.8%). |
| PubMedID- 20526256 | Background: the purpose of this study is to follow the familial incidence of non-syndromic or isolated cleft lip, with or without cleft palate (nscl/p), and to analyze the relationships between the type of nscl/p in the affected individual and his/her parent, looking at children in the first grade. |
| PubMedID- 20662904 | Nonsyndromic cleft lip with or without cleft palate (ncl/p) is one of the most common craniofacial malformations; however, its aetiology is still unclear. |
| PubMedID- 25322573 | Objective: to assess the association between polymorphism of methylenetetrahydrofolate reductase (mthfr) gene c677t locus and nonsyndromic cleft lip with or without cleft palate (nscl/p) in shanxi province of china. |
| PubMedID- 23483617 | The overall incidence of cleft palate with or without cleft lip is 1 in 1000 live births. |
| PubMedID- 24613087 | Objective: nonsyndromic cleft lip with or without cleft palate (ns-cl/p) is one of the most common craniofacial malformations determined by the interaction between multiple genes and environmental risk factors. |
| PubMedID- 24652124 | Association between palatal index and cleft palate repair outcomes in patients with complete unilateral cleft lip and palate. |
| PubMedID- 23081944 | Background: nonsyndromic cleft lip with or without cleft palate (nscl/p) is one of the most common of all congenital anomalies, and has a multifactorial etiology involving both environmental and genetic factors. |
| PubMedID- 24437588 | Introduction: nonsyndromic cleft lip with or without cleft palate (nsclp) is a common birth defect with substantial clinical and social impact. |
| PubMedID- 25798845 | cleft lip with or without cleft palate (cl/p) is the most commonly occurring craniofacial birth defect. |
| PubMedID- 21792966 | Objectives/hypothesis: cleft lip with or without cleft palate (cl/p) is a common birth defect throughout the world. |
| PubMedID- 21781439 | No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate. |
| PubMedID- 25081408 | Genome-wide association studies (gwas) for nonsyndromic cleft lip with or without cleft palate (nsclp) revealed significant association for common single nucleotide polymorphisms near genes involved in craniofacial development i.e., mafb, pax7, vax1, arhgap29 (abca4 locus), and irf6. |
| PubMedID- 25105440 | Nonsyndromic cleft lip with or without cleft palate (nsclp) is a common congenital deformity, often associated with folate deficiency. |
| PubMedID- 20082468 | Our previous results indicated a moderate association between the methylenetetrahydrofolate reductase (mthfr) gene 677c-t variant and an increased risk of non-syndromic cleft lip with or without cleft palate (nscl/p) among the northern but not southern population in china, suggesting possible genetic heterogeneity in the etiology of nscl/p between these two populations. |
| PubMedID- 19536562 | These heterogeneous defects comprise cleft lip (cl), cl with cleft palate (cl/p), and cleft palate, sometimes observed in recognizable syndromes, with mendelian, chromosomal, or environmental pathogenesis. |
| PubMedID- 26080863 | Association study between candidate genes on transforming growth factor-beta signaling pathway and the risk of non-syndromic cleft lip with or without cleft palate in chinese populations. |
| PubMedID- 21885341 | Four gwas of nonsyndromic cleft lip with or without cleft palate have been conducted, and these have identified five new chromosomal loci. |
| PubMedID- 22487822 | However, in cleft lip with cleft palate group, no such difference was observed. |
| PubMedID- 19737740 | Background: non-syndromic isolated cleft lip with or without cleft palate (ncl/p) is a common congenital anomaly in humans, the aetiology of which is complex and associated with both genetic and environmental factors. |
| PubMedID- 22471252 | It has been possible to detect cleft lip (cl), with or without cleft palate (clp), using ultrasound (us) since the beginning of the 1980s. |
| PubMedID- 23921572 | Nonsyndromic cleft lip with or without cleft palate (nscl/p) is a common congenital deformity, often associated with missing or deformed teeth. |
| PubMedID- 21045959 | On the basis of this data, we conclude that irf6 should be screened when any doubt rises about the normality of the lower lip and also if a non-syndromic cleft lip patient (with or without cleft palate) has a family history suggestive of autosomal dominant inheritance. |
| PubMedID- 23642423 | Objective: cleft lip with or without cleft palate (cl+/-p) or cleft palate (cp) are groups of malformations named orofacial clefts (oc), which are the second leading cause of birth defects. |
| PubMedID- 26204535 | Background: nat genes are considered candidate genes for the genetic predisposition to non-syndromic cleft lip with or without cleft palate (nsclp), since they codify for n-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment. |
| PubMedID- 26313826 | Prenatal ultrasound diagnosis of cleft lip with or without cleft palate has received little attention in the plastic surgery literature despite its initial description more than 30 years ago. |
| PubMedID- 22499695 | Candidate pathway based analysis for cleft lip with or without cleft palate. |