eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| palatopharyngeal incompetence | ||||
| Disease ID | 1381 |
|---|---|
| Disease | palatopharyngeal incompetence |
| Definition | Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech. |
| Synonym | inadequate velopharyngeal closure incompetence, palatopharyngeal incompetence, velopharyngeal insufficiency, velopharyngeal palatopharyngeal insufficiency velopharyngeal closures, inadequate velopharyngeal inadequacy velopharyngeal inadequacy (disorder) velopharyngeal incompetence velopharyngeal incompetence (disorder) velopharyngeal insufficiency velopharyngeal insufficiency (disorder) velopharyngeal insufficiency [disease/finding] vpi vpi - velopharyngeal incompetence |
| OMIM | |
| UMLS | C0042454 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0008925 | cleft palate | 13 C0012236 | 22q11.2 deletion syndrome | 2 C0220704 | velocardiofacial syndrome | 2 C0008924 | cleft lip | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1381 |
|---|---|
| Disease | palatopharyngeal incompetence |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0000175 | Palatoschisis | 13 HP:0001611 | Hypernasal speech | 2 HP:0002015 | Swallowing difficulty | 1 HP:0011469 | Nasal regurgitation | 1 HP:0100333 | Unilateral cheiloschisis | 1 HP:0000201 | Pierre-robin deformity | 1 HP:0011968 | Feeding difficulties | 1 HP:0002691 | Increased basal angle of skull base | 1 |
| Disease ID | 1381 |
|---|---|
| Disease | palatopharyngeal incompetence |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001608 | Abnormality of the voice | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000220 | Velopharyngeal insufficiency | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| Disease ID | 1381 |
|---|---|
| Disease | palatopharyngeal incompetence |
| Case | (Waiting for update.) |