eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cleft palate |
| Comorbidity | |cleft lip |
| Sentences | 270 |
| PubMedID- 26511190 | Its role in nonsyndromic cleft lip with or without cleft palate (nscl/p) has been extensively investigated and successfully linked to the disease. |
| PubMedID- 22909240 | Since the 1980s, prenatal detection of cleft lip with or without cleft palate (clp) is possible with a transabdominal ultrasound. |
| PubMedID- 25257647 | Background: the heritable multifactorial etiology of human nonsyndromic cleft lip with or without cleft palate (cl +/- p) is not understood. |
| PubMedID- 23226815 | Objective: cleft lip with or without cleft palate is the most common orofacial congenital anomaly among live births. |
| PubMedID- 22905623 | Objective: to reveal the association between the single nucleotide polymorphism (snp) of v-maf musculoaponeurotic fibrosarcoma oncogene homolog b (mafb) gene rs17820943 locus and non-syndromic cleft lip with or without cleft palate (nscl/p) in the southern chinese han population. |
| PubMedID- 24066709 | Objective : the aim of this work was to fine-map the region 6q23.1, which obtained suggestive linkage signal (logarithm of the odds [lod] score = 2.22 under a recessive model) to cleft lip with or without cleft palate (cl+/-p) in our previous genome-wide linkage scan to identify possible genetic variants that may contribute to cl+/-p. |
| PubMedID- 20436469 | A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near mafb and abca4. |
| 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- 20811522 | Objectives: cleft lip with or without cleft palate, is the most common serious congenital anomaly that affects the orofacial regions. |
| PubMedID- 20587169 | cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. |
| PubMedID- 21760670 | Compared cleft palate patients with cleft lip, alveolus and palate patients, but there was no cleft lip group included. |
| PubMedID- 25007034 | The mean birth prevalence was 0.82 per 1000 live births for cleft lip with or without cleft palate and 0.58 per 1000 live births for 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- 21981552 | Methods: we used dna from 167 japanese nscl+/-p patients (45 cleft lip without cleft palate and 122 cleft lip with cleft palate patients) and 190 japanese unaffected control individuals. |
| PubMedID- 22906393 | Dermatoglyphic evaluation in subjects and parents of cleft lip with and without cleft palate. |
| PubMedID- 22514733 | Background: the bone morphogenetic protein 4 gene (bmp4) is located in chromosome 14q22-q23 which has shown evidence of linkage for isolated nonsyndromic cleft lip with or without cleft palate (nscl/p) in a genome wide linkage analysis of human multiplex families. |
| PubMedID- 23385809 | Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: is homocysteine a factor. |
| 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- 25471993 | cleft lip with or without cleft palate (clp and cl, respectively) and isolated cleft palate (cp) represent one of the most common human birth defects, with a prevalence of approximately 1 in 300-2500 depending on the population. |
| PubMedID- 25135242 | Background: cleft lip with or without cleft palate is one of the most common congenital anomalies that affect the oro-facial region. |
| PubMedID- 21834040 | Contribution of variants in and near the irf6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a malay population. |
| PubMedID- 24097855 | We tested hypotheses that maternal exposure during the periconceptional period to multivitamins or liver consumption would decrease cleft lip with or without cleft palate (cl +/- p) risk and that menstrual regulation supplements would increase cl +/- p risk. |
| PubMedID- 20815724 | Crispld2 variants including a c471t silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate. |
| PubMedID- 22125225 | The practical relevance of the approach is illustrated by an application to a sequencing dataset for nonsyndromic cleft lip with or without cleft palate. |
| 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- 20946971 | Latvia has one of the highest prevalence of isolated cleft lip with or without cleft palate (cl/p) in europe. |
| PubMedID- 23580168 | The purpose of this study was to investigate the contribution of msx1 gene to the risk of nonsyndromic cleft lip with or without cleft palate (ns-cl +/- p) in the korean population. |
| PubMedID- 20662561 | Nonsyndromic cleft lip with or without cleft palate (nscl/p) has a complex etiology, which involves both genetic and environmental factors. |
| 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- 26540672 | The aim of the investigation was to replicate previous studies reporting evidence of association between polymorphisms of folate related genes and the occurrence of non-syndromic cleft lip with or without cleft palate (nscl/p), using three independent samples of different ancestry: from tibet, bangladesh and iran, respectively. |
| PubMedID- 21679965 | A relatively high prevalence of cleft lip, with or without cleft palate, was observed. |
| PubMedID- 21834038 | Moreover, the apparent protection against cleft lip with or without cleft palate (cl/p), cleft lip with cleft palate (clp), and cleft lip only (clo) was also identified in stratified analysis. |
| PubMedID- 22565872 | Although muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high-arched palate, cleft lip with or without cleft palate has not been documented in a patient series of muenke syndrome to date. |
| 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- 25171615 | Results: conducted logistic regression did not confirm modificatory influence of rs7078160 in vax1 gene on cleft lip with or without cleft palate risk. |
| PubMedID- 20569073 | The presence of cleft lip with or without cleft palate (cl/p) in family members of cancer patients was investigated. |
| PubMedID- 20564431 | Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: evidence for irf6 and variants at 8q24 and 10q25. |
| PubMedID- 22302702 | Patients were classified in two distinct groups: cleft lip with or without cleft palate (cl +/- p) and isolated cleft palate (cp). |
| PubMedID- 20738159 | However, rarely studies have linked sumo1 to nonsyndromic cleft lip with or without cleft palate in humans. |
| PubMedID- 24743817 | Objective: to analyze the minor allele frequencies (mafs), haplotype block and haplotype frequencies for single nucleotide polymorphisms (snps) in sumo1 using hapmap data and perform association analysis between snps in sumo1 and non-syndromic cleft lip with or without cleft palate (nscl/p) using 183 trios recruited from shandong province. |
| 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- 21281326 | Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. |
| 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- 22863734 | We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (nscl/p) using data from the two largest genome-wide association studies published to date. |
| PubMedID- 24582076 | 83% of the cases (n = 44) involved some form of cleft lip with or without cleft palate. |
| PubMedID- 23774909 | [association study for gene polymorphism of folic acid/homocysteine metabolic pathway and nonsyndromic cleft lip with or without cleft palate in chinese populations]. |
| PubMedID- 21792966 | Objectives/hypothesis: cleft lip with or without cleft palate (cl/p) is a common birth defect throughout the world. |
| PubMedID- 26331285 | The etiology of cleft lip with or without cleft palate (cl+/-p) is complex and heterogeneous, and multiple genetic and environmental factors are involved. |
| PubMedID- 20826065 | The prevalence of cleft lip with or without cleft palate (cl/p) at birth varied from 3.4-22.9 per 10000 births according to different geography and ethnic groups. |
| PubMedID- 23371247 | Risk for birth defects was substantially increased among some obese mothers (bmi >/=30) (e.g., spina bifida, tetralogy of fallot, cleft lip with or without cleft palate, hypospadias, and epispadias). |