eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pure autonomic failure | ||||
| Disease ID | 1862 |
|---|---|
| Disease | pure autonomic failure |
| Definition | A degenerative disease of the AUTONOMIC NERVOUS SYSTEM that is characterized by idiopathic ORTHOSTATIC HYPOTENSION and a greatly reduced level of CATECHOLAMINES. No other neurological deficits are present. |
| Synonym | autonomic failure autonomic failure, pure bradbury eggleston syndrome bradbury-eggleston syndrome pure autonomic failure (disorder) pure autonomic failure [disease/finding] syndrome, bradbury-eggleston |
| Orphanet | |
| UMLS | C0393911 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:26) C0030567 | parkinson's disease | 4 C0497327 | dementia | 3 C0011847 | diabetes | 2 C0020538 | hypertension | 2 C0442874 | neuropathy | 2 C0030567 | parkinson disease | 2 C0524851 | neurodegenerative disorders | 2 C0011854 | type 1 diabetes | 2 C0027765 | neurological disorders | 1 C0027765 | neurological disease | 1 C0242379 | lung cancer | 1 C0011860 | type 2 diabetes | 1 C0752347 | dementia with lewy bodies | 1 C0007760 | cerebellar dysfunction | 1 C0011854 | type 1 diabetes mellitus | 1 C0027765 | neurological disorder | 1 C0011991 | diarrhea | 1 C0524851 | neurodegenerative disease | 1 C0393571 | multiple system atrophy | 1 C0085580 | essential hypertension | 1 C0393571 | multisystem atrophy | 1 C0042075 | urological diseases | 1 C0259749 | autonomic neuropathy | 1 C0020598 | hypoglycemia | 1 C0042075 | urological disorders | 1 C0011860 | type 2 diabetes mellitus | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1862 |
|---|---|
| Disease | pure autonomic failure |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0002615 | Low blood pressure | 12 HP:0001278 | Orthostatic hypotension | 9 HP:0000726 | Dementia | 3 HP:0000822 | Hypertension | 2 HP:0001300 | Parkinsonism | 2 HP:0000458 | Anosmia | 2 HP:0001943 | Hypoglycemia | 2 HP:0100315 | Lewy bodies | 2 HP:0002578 | Gastroparesis | 1 HP:0002014 | Diarrhea | 1 HP:0002028 | Chronic diarrhea | 1 |
| Disease ID | 1862 |
|---|---|
| Disease | pure autonomic failure |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
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 | 1862 |
|---|---|
| Disease | pure autonomic failure |
| Case | (Waiting for update.) |