eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| benign essential blepharospasm | ||||
| Disease ID | 933 |
|---|---|
| Disease | benign essential blepharospasm |
| Definition | Benign essential blepharospasm (BEB) is a rare neurological disorder in which affected individuals experience involuntary muscle spasms and contractions of the muscles around the eyes. These spasms come and go (intermittent). Symptoms may begin as eye twitching, blinking and/or irritation. Eventually, BEB causes involuntary closure of the eyes. The exact cause of BEB is unknown. The disorder is one of a group of disorders collectively known as dystonia.Dystonia is a group of movement disorders that vary in their symptoms, causes, progression, and treatments. This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). - NORD Reference: NORD |
| Synonym | blepharospasm, benign essential essential blepharospasm primary blepharospasm |
| OMIM | |
| UMLS | C2930898 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 933 |
|---|---|
| Disease | benign essential blepharospasm |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0000643 | Spontaneous closure of eyelid |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0002186 | Apraxia | 2 HP:0000613 | Extreme light sensitivity | 1 HP:0001332 | Dystonia | 1 HP:0000501 | Glaucoma | 1 |
| Disease ID | 933 |
|---|---|
| Disease | benign essential blepharospasm |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1182 | 19202559 | 1861 | TOR1A | umls:C2930898 | BeFree | The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. | 0.002909916 | 2009 | TOR1A | 9 | 129813781 | C | A |
| rs1182 | 19202559 | 1861 | TOR1A | umls:C2930898 | GAD | [The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.] | 0.002909916 | 2009 | TOR1A | 9 | 129813781 | C | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000643 | Blepharospasm | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| Disease ID | 933 |
|---|---|
| Disease | benign essential blepharospasm |
| Case | (Waiting for update.) |