PedAM
Pediatric Disease Annotations & Medicines
| cleft lip/palate | ||||
| Disease ID | 1808 |
|---|---|
| Disease | cleft lip/palate |
| Definition | 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 |
| Synonym | cheilopalatoschisis cheilopalatoschisis (disorder) cleft lip and cleft palate cleft lip and palate cleft lip palate cleft lip, cleft palate cleft palate & lip nos cleft palate and cleft lip cleft palate and lip cleft palate and lip (disorder) cleft palate lip cleft palate with cleft lip cleft palate with cleft lip (disorder) cleft palate with cleft lip nos cleft palate with cleft lip nos (disorder) cleft palate with cleft lip, nos cleft palate with cleft lip, unspecified cleft palate with cleft lip, unspecified (disorder) cleft palate with hare hip lip and palate cleft lip cleft palate palate and lip cleft palate cleft lip with cleft lip palate |
| DOID | |
| UMLS | C0158646 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0034012 | delayed puberty | 1 C0011334 | dental caries | 1 C0162809 | kallmann syndrome | 1 C0011334 | caries | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1808 |
|---|---|
| Disease | cleft lip/palate |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1808 |
|---|---|
| Disease | cleft lip/palate |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909635 | 16606836 | 2260 | FGFR1 | umls:C0158646 | BeFree | Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. | 0.000542884 | 2006 | FGFR1 | 8 | 38426158 | C | T |
| rs121909636 | 16606836 | 2260 | FGFR1 | umls:C0158646 | BeFree | Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. | 0.000542884 | 2006 | FGFR1 | 8 | 38414569 | G | A |
| rs267606805 | 16606836 | 2260 | FGFR1 | umls:C0158646 | BeFree | Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. | 0.000542884 | 2006 | FGFR1 | 8 | 38414173 | G | T |
| rs267606806 | 16606836 | 2260 | FGFR1 | umls:C0158646 | BeFree | Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. | 0.000542884 | 2006 | FGFR1 | 8 | 38414166 | G | C,A |
| rs401681 | 24577890 | 7015 | TERT | umls:C0158646 | BeFree | Recently, one genome-wide association study (GWAS), conducted exclusively among women of European ancestry, has discovered that cleft lip and palate transmembrane 1-like telomerase reverse transcriptase (CLPTM1L-TERT) rs401681 polymorphism was significantly associated with pancreatic cancer risk. | 0.002714419 | 2014 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 23653681 | 81037 | CLPTM1L | umls:C0158646 | BeFree | Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft lip and palate transmembrane 1-like gene (CLPTM1L), have been implicated in susceptibility to lung cancer through genome-wide association studies (GWAS); however, subsequent replication studies yielded controversial results. | 0.004071628 | 2013 | CLPTM1L | 5 | 1321972 | C | T |
| rs522616 | 22730240 | 4314 | MMP3 | umls:C0158646 | BeFree | Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). | 0.000542884 | 2012 | MMP3 | 11 | 102844317 | T | C |
| rs522616 | 22730240 | 7077 | TIMP2 | umls:C0158646 | BeFree | Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). | 0.000542884 | 2012 | MMP3 | 11 | 102844317 | T | C |
| rs8179096 | 22730240 | 4314 | MMP3 | umls:C0158646 | BeFree | Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). | 0.000542884 | 2012 | TIMP2 | 17 | 78925567 | G | A |
| rs8179096 | 22730240 | 7077 | TIMP2 | umls:C0158646 | BeFree | Polymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). | 0.000542884 | 2012 | TIMP2 | 17 | 78925567 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |