eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| benign paroxysmal positional nystagmus | ||||
| Disease ID | 1345 |
|---|---|
| Disease | benign paroxysmal positional nystagmus |
| Definition | Idiopathic recurrent VERTIGO associated with POSITIONAL NYSTAGMUS. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in LABYRINTHITIS and VESTIBULAR NEURONITIS, inflammation in the ear is not observed. |
| Synonym | benign paroxysmal positional vertigo benign paroxysmal positional vertigo (disorder) benign paroxysmal positional vertigo [disease/finding] benign parxysmal vertigo benign positional vertigo benign recurrent vertigo benign recurrent vertigo (disorder) benign recurrent vertigos bppv bppv - benign paroxysmal positional vertigo brv familial benign recurrent vertigo familial vestibulopathies familial vestibulopathy nystagmus, paroxysmal positional, benign nystagmus, positional, labyrinthine positional benign vertigo positional vertigo benign recurrent vertigo, benign recurrent vertigos, benign vertigo benign positional vertigo, benign paroxysmal positional vertigo, benign positional vertigo, benign recurrent vertigo, paroxysmal positional, benign vestibulopathies, familial vestibulopathy, familial |
| OMIM | |
| DOID | |
| UMLS | C0155502 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:19) C0028738 | nystagmus | 18 C0025281 | meniere's disease | 4 C0751908 | vestibular neuritis | 3 C0018784 | sensorineural hearing loss | 3 C0042870 | vitamin d defic | 2 C0042870 | vitamin d deficiency | 2 C0029456 | osteoporosis | 2 C0027813 | neuritis | 2 C0149931 | migraine | 2 C0011570 | depression | 1 C0022890 | inner ear disease | 1 C0003850 | arteriosclerosis | 1 C0155502 | benign paroxysmal positional vertigo | 1 C0038019 | spondylosis | 1 C0042594 | vestibular disorders | 1 C0030567 | parkinson's disease | 1 C0027859 | vestibular schwannoma | 1 C0042769 | viral infections | 1 C0042769 | viral infection | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 9138 | ARHGEF1 | 3.042 | DISEASES 773 | CACNA1A | 3.452 | DISEASES 5169 | ENPP3 | 2.09 | DISEASES 26232 | FBXO2 | 3.946 | DISEASES 26190 | FBXW2 | 2.749 | DISEASES 2316 | FLNA | 2.338 | DISEASES 102723508 | KANTR | 2.467 | DISEASES 8564 | KMO | 2.992 | DISEASES 4359 | MPZ | 2.114 | DISEASES 92399 | MRRF | 3.036 | DISEASES 131149 | OTOL1 | 5.563 | DISEASES 27445 | PCLO | 2.598 | DISEASES 83695 | RHNO1 | 1.504 | DISEASES 3921 | RPSA | 1.658 | DISEASES 117157 | SH2D1B | 4.431 | DISEASES 10732 | TCFL5 | 2.405 | DISEASES 6949 | TCOF1 | 1.566 | DISEASES 26036 | ZNF451 | 3.22 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1345 |
|---|---|
| Disease | benign paroxysmal positional nystagmus |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:18) HP:0000639 | Nystagmus | 18 HP:0002321 | Vertigo | 15 HP:0000407 | sensorineural hearing loss | 3 HP:0100512 | Vitamin D deficiency | 2 HP:0000365 | Hearing impairment | 2 HP:0002076 | Migraine headaches | 2 HP:0000939 | Osteoporosis | 2 HP:0002527 | Falls | 2 HP:0000938 | Decreased bone mineral density | 1 HP:0000666 | Horizontal nystagmus | 1 HP:0002459 | Dysautonomia | 1 HP:0002140 | Ischemic stroke | 1 HP:0000716 | Depression | 1 HP:0002634 | Arteriosclerosis | 1 HP:0001297 | Cerebral vascular events | 1 HP:0009588 | Vestibular Schwannoma | 1 HP:0008480 | Neck arthritis | 1 HP:0010545 | Downbeat nystagmus | 1 |
| Disease ID | 1345 |
|---|---|
| Disease | benign paroxysmal positional nystagmus |
| 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002141 | Gait imbalance | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0002321 | Vertigo | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1345 |
|---|---|
| Disease | benign paroxysmal positional nystagmus |
| Case | (Waiting for update.) |