eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| erythromelalgia | ||||
| Disease ID | 122 |
|---|---|
| Disease | erythromelalgia |
| Definition | A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS. |
| Synonym | erythermalgia erythermalgias erythralgia erythromelalgia (disorder) erythromelalgia [disease/finding] erythromelalgias gerhardt disease mitchell disease weir mitchell syndrome weir mitchell's disease |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0014804 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:8) C0678222 | breast carcinoma | 1 C0003873 | rheumatoid arthritis | 1 C0020538 | hypertension | 1 C0442874 | neuropathy | 1 C0003864 | arthritis | 1 C0023343 | hansen's disease | 1 C0270921 | axonal neuropathy | 1 C0031117 | peripheral neuropathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 57126 | CD177 | 1.74 | DISEASES 8813 | DPM1 | 3.536 | DISEASES 10938 | EHD1 | 1.881 | DISEASES 56478 | EIF4ENIF1 | 3.291 | DISEASES 3716 | JAK1 | 1.047 | DISEASES 3717 | JAK2 | 3.178 | DISEASES 286826 | LIN9 | 2.812 | DISEASES 51360 | MBTPS2 | 2.394 | DISEASES 89796 | NAV1 | 1.353 | DISEASES 4803 | NGF | 1.237 | DISEASES 5742 | PTGS1 | 1.138 | DISEASES 6336 | SCN10A | 4.203 | DISEASES 6329 | SCN4A | 2.116 | DISEASES 6330 | SCN4B | 4.668 | DISEASES 6331 | SCN5A | 1.067 | DISEASES 6334 | SCN8A | 2.02 | DISEASES 6335 | SCN9A | 7.989 | DISEASES 7056 | THBD | 2.232 | DISEASES 7442 | TRPV1 | 1.104 | DISEASES 162514 | TRPV3 | 2.663 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SCN9A | 2q24.3 |
| Disease ID | 122 |
|---|---|
| Disease | erythromelalgia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0010783 | Erythema HP:0002045 | Hypothermia HP:0002633 | Vasculitis HP:0001909 | Leukemia HP:0001872 | Abnormality of thrombocytes HP:0009830 | Peripheral neuropathy HP:0000989 | Pruritus HP:0002205 | Recurrent respiratory infections |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0003477 | Peripheral axonal neuropathy | 1 HP:0003401 | Paresthesia | 1 HP:0001370 | Rheumatoid arthritis | 1 HP:0001369 | Arthritis | 1 HP:0009830 | Peripheral neuritis | 1 HP:0010783 | Erythema | 1 HP:0003002 | Breast carcinoma | 1 HP:0007002 | Motor axonal neuropathy | 1 HP:0001063 | Acrocyanosis | 1 HP:0005547 | Myeloproliferative disorder | 1 HP:0001820 | Leukonychia | 1 HP:0012531 | Pain | 1 HP:0000822 | Hypertension | 1 |
| Disease ID | 122 |
|---|---|
| Disease | erythromelalgia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:6) |
| 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:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs375828897 | 20033988 | 6335 | SCN9A | umls:C0014804 | BeFree | In studies on a family with inherited erythromelalgia associated with Na(V)1.7 gain-of-function mutation A863P, we identified a nonsynonymous single-nucleotide polymorphism within SCN9A in the affected proband and several unaffected family members; this polymorphism (c. 3448C&T, Single Nucleotide Polymorphisms database rs6746030, which produces the amino acid substitution R1150W in human Na(V)1.7 [hNa(V)1.7]) is present in 1.1 to 12.7% of control chromosomes, depending on ethnicity. | 0.262860706 | 2009 | SCN9A;LOC101929680 | 2 | 166242645 | T | A |
| rs6746030 | 20033988 | 6335 | SCN9A | umls:C0014804 | BeFree | In studies on a family with inherited erythromelalgia associated with Na(V)1.7 gain-of-function mutation A863P, we identified a nonsynonymous single-nucleotide polymorphism within SCN9A in the affected proband and several unaffected family members; this polymorphism (c. 3448C&T, Single Nucleotide Polymorphisms database rs6746030, which produces the amino acid substitution R1150W in human Na(V)1.7 [hNa(V)1.7]) is present in 1.1 to 12.7% of control chromosomes, depending on ethnicity. | 0.262860706 | 2009 | SCN9A;LOC101929680 | 2 | 166242648 | A | G |
| rs80356470 | 17008310 | 6335 | SCN9A | umls:C0014804 | BeFree | Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating. | 0.262860706 | 2006 | SCN9A | 2 | 166303270 | A | T |
| rs80356473 | 19800314 | 6335 | SCN9A | umls:C0014804 | BeFree | Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials. | 0.262860706 | 2009 | SCN9A;LOC101929680 | 2 | 166278156 | A | C |
| rs80356475 | 24401712 | 6335 | SCN9A | umls:C0014804 | BeFree | Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H. | 0.262860706 | 2014 | SCN9A;LOC101929680 | 2 | 166277251 | A | T |
| rs80356476 | 17239250 | 6335 | SCN9A | umls:C0014804 | BeFree | Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7. | 0.262860706 | 2007 | SCN9A;LOC101929680 | 2 | 166277252 | G | A |
| rs80356477 | 20033988 | 6335 | SCN9A | umls:C0014804 | BeFree | In studies on a family with inherited erythromelalgia associated with Na(V)1.7 gain-of-function mutation A863P, we identified a nonsynonymous single-nucleotide polymorphism within SCN9A in the affected proband and several unaffected family members; this polymorphism (c. 3448C&T, Single Nucleotide Polymorphisms database rs6746030, which produces the amino acid substitution R1150W in human Na(V)1.7 [hNa(V)1.7]) is present in 1.1 to 12.7% of control chromosomes, depending on ethnicity. | 0.262860706 | 2009 | SCN9A;LOC101929680 | 2 | 166277237 | C | G,A |
| rs80356478 | 21289137 | 6335 | SCN9A | umls:C0014804 | BeFree | Kinetic modeling of Nav1.7 provides insight into erythromelalgia-associated F1449V mutation. | 0.262860706 | 2011 | SCN9A;LOC101929680 | 2 | 166226587 | A | C |
| rs80356478 | 18550534 | 6335 | SCN9A | umls:C0014804 | BeFree | A pore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia-associated F1449V mutation. | 0.262860706 | 2008 | SCN9A;LOC101929680 | 2 | 166226587 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0001872 | Abnormality of thrombocytes | 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:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002045 | Hypothermia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002633 | Vasculitis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001872 | Abnormality of thrombocytes | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0001909 | Leukemia | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| Disease ID | 122 |
|---|---|
| Disease | erythromelalgia |
| Case | (Waiting for update.) |