eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| paroxysmal extreme pain disorder | ||||
| Disease ID | 677 |
|---|---|
| Disease | paroxysmal extreme pain disorder |
| Definition | An autosomal dominant disorder due to a sodium channelopathy and characterized by skin flushing and severe pain. Attacks can start in infancy where the pain is typically concentrated in the lower part of the body, with progression of age the location of pain may change to affect the head and face. |
| Synonym | familial rectal pain pain, submandibular, ocular, and rectal, with flushing pain, submandibular, ocular, wnd rectal, with flushing paroxysmal extreme pain disorder (disorder) pexpd rectal pain, familial submandibular, ocular and rectal pain with flushing submandibular, ocular, and rectal pain with flushing |
| Orphanet | |
| OMIM | |
| UMLS | C1833661 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:3) |
| Disease ID | 677 |
|---|---|
| Disease | paroxysmal extreme pain disorder |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0000632 | Lacrimation abnormality HP:0001250 | Seizures HP:0007328 | Decreased pain sensation HP:0002019 | Constipation HP:0200026 | Ocular pain HP:0001649 | Tachycardia HP:0001662 | Bradycardia HP:0200025 | Mandibular pain |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 677 |
|---|---|
| Disease | paroxysmal extreme pain disorder |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908910 | 17145499 | 6335 | SCN9A | umls:C1833661 | UNIPROT | SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. | 0.487600372 | 2006 | SCN9A;LOC101929680 | 2 | 166272731 | G | C,A |
| rs121908912 | 20429905 | 6335 | SCN9A | umls:C1833661 | BeFree | We have identified a new IEM mutation P1308L within the C-terminus of the DIII/S4-S5 linker of NaV1.7, ten amino acids from a known PEPD mutation V1298F which is located within the N-terminus of this linker. | 0.487600372 | 2010 | SCN9A;LOC101929680 | 2 | 166228972 | C | A |
| rs121908915 | 21788423 | 6335 | SCN9A | umls:C1833661 | BeFree | Using stably transfected human embryonic kidney 293 cells expressing wild-type Nav1.7 and the PEPD mutants T1464I and M1627K, we examined the effects of the three drugs on Navβ4 peptide-mediated resurgent currents. | 0.487600372 | 2011 | SCN9A;LOC101929680 | 2 | 166204439 | G | A |
| rs73969684 | NA | 6335 | SCN9A | umls:C1833661 | CLINVAR | NA | 0.487600372 | NA | SCN9A | 2 | 166305834 | C | G,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200026 | Ocular pain | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| HP:0007328 | Impaired pain sensation | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| HP:0200025 | Mandibular pain | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200026 | Ocular pain | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0000632 | Lacrimation abnormality | MP:0013721 | abnormal mammary placode morphology | any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible loca |
| HP:0007328 | Impaired pain sensation | 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 |
| HP:0001649 | Tachycardia | 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:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0200025 | Mandibular pain | MP:0011089 | perinatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0001662 | Bradycardia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| Disease ID | 677 |
|---|---|
| Disease | paroxysmal extreme pain disorder |
| Case | (Waiting for update.) |