eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| progressive bulbar palsy | ||||
| Disease ID | 1267 |
|---|---|
| Disease | progressive bulbar palsy |
| Definition | A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900) |
| Synonym | bulbar palsies, progressive bulbar palsy bulbar palsy progressive bulbar palsy, progressive bulbar palsy, progressive [disease/finding] bulbar paralysis palsies, progressive bulbar palsy, progressive bulbar pbp - progressive bulbar palsy progressive bulbar palsies progressive bulbar palsy (disorder) |
| DOID | |
| ICD10 | |
| UMLS | C0030442 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C0004134 | ataxia | 1 C0442874 | neuropathy | 1 C0026896 | myasthenia gravis | 1 C0155550 | neural deafness | 1 C0025309 | meningoencephalitis | 1 C0032285 | pneumonia | 1 C0497327 | dementia | 1 C0018784 | sensorineural deafness | 1 C0149931 | migraines | 1 C0037928 | myelopathy | 1 C0003537 | aphasia | 1 C0018378 | guillain-barre syndrome | 1 C0040156 | thyrotoxicosis | 1 C0235025 | motor neuropathy | 1 C1145670 | respiratory failure | 1 C0032290 | aspiration pneumonia | 1 C0027765 | neurological disorder | 1 C1527231 | adrenomyeloneuropathy | 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:8) |
| Locus | (Waiting for update.) |
| Disease ID | 1267 |
|---|---|
| Disease | progressive bulbar palsy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:24) HP:0000365 | Hearing impairment | 2 HP:0002878 | Respiratory failure | 1 HP:0001260 | Dysarthric speech | 1 HP:0030207 | Paradoxical respiration | 1 HP:0000726 | Dementia | 1 HP:0002090 | Pneumonia | 1 HP:0002196 | Myelopathy | 1 HP:0002015 | Swallowing difficulty | 1 HP:0000020 | Bladder incontinence | 1 HP:0011951 | Aspiration pneumonia | 1 HP:0002427 | Loss of expressive speech | 1 HP:0002716 | Lymph node hyperplasia | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0003470 | Inability to move | 1 HP:0002835 | Aspiration | 1 HP:0007123 | Subcortical dementia | 1 HP:0002381 | Aphasia | 1 HP:0003388 | Easy fatigability | 1 HP:0007256 | Abnormal pyramidal signs | 1 HP:0001297 | Cerebral vascular events | 1 HP:0002167 | Speech disorder | 1 HP:0005943 | Respiratory arrest | 1 HP:0002401 | Strokelike episodes | 1 HP:0001251 | Ataxia | 1 |
| Disease ID | 1267 |
|---|---|
| Disease | progressive bulbar palsy |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1267 |
|---|---|
| Disease | progressive bulbar palsy |
| Case | (Waiting for update.) |