eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| miller fisher syndrome | ||||
| Disease ID | 1399 |
|---|---|
| Disease | miller fisher syndrome |
| Definition | A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8) |
| Synonym | fisher miller syndrome fisher syndrome fisher's syndrome fisher's syndrome (disorder) guillain barre syndrome, miller fisher variant guillain-barre syndrome, miller fisher variant miller fisher syndrome [disease/finding] miller fisher variant of guillain barre syndrome miller-fisher syndrome miller-fisher variant of guillain-barre syndrome miller-fisher variant of guillain-barre syndrome (disorder) ophthalmoplegia, ataxia and areflexia syndrome ophthalmoplegia, ataxia, areflexia syndrome syndrome miller fisher syndrome, fisher syndrome, miller fisher syndrome, miller-fisher |
| Orphanet | |
| DOID | |
| UMLS | C0393799 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0029089 | ophthalmoplegia | 5 C0004134 | ataxia | 4 C0018378 | guillain-barre syndrome | 2 C0015300 | proptosis | 1 C0015464 | facial palsy | 1 C0017605 | angle-closure glaucoma | 1 C0017601 | glaucoma | 1 C0442874 | neuropathy | 1 C0270921 | axonal neuropathy | 1 C0043117 | immune thrombocytopenic purpura | 1 C0021400 | influenza | 1 C0014038 | encephalitis | 1 C0235025 | motor neuropathy | 1 C0154946 | acute angle-closure glaucoma | 1 C0042769 | virus infection | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:26) 8573 | CASK | 2.658 | DISEASES 875 | CBS | 1.085 | DISEASES 959 | CD40LG | 4.359 | DISEASES 7122 | CLDN5 | 1.652 | DISEASES 124454 | EARS2 | 2.597 | DISEASES 2204 | FCAR | 2.535 | DISEASES 2719 | GPC3 | 2.271 | DISEASES 2903 | GRIN2A | 1.454 | DISEASES 8091 | HMGA2 | 4.035 | DISEASES 102723508 | KANTR | 1.252 | DISEASES 4099 | MAG | 4.196 | DISEASES 4593 | MUSK | 1.54 | DISEASES 4803 | NGF | 1.348 | DISEASES 4908 | NTF3 | 1.592 | DISEASES 11331 | PHB2 | 2.336 | DISEASES 5251 | PHEX | 1.018 | DISEASES 5554 | PRH1 | 3.325 | DISEASES 5555 | PRH2 | 3.325 | DISEASES 5730 | PTGDS | 2.03 | DISEASES 146713 | RBFOX3 | 1.15 | DISEASES 6223 | RPS19 | 1.807 | DISEASES 27036 | SIGLEC7 | 3.444 | DISEASES 25870 | SUMF2 | 1.839 | DISEASES 117145 | THEM4 | 2.443 | DISEASES 7124 | TNF | 1.305 | DISEASES 7133 | TNFRSF1B | 1.713 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1399 |
|---|---|
| Disease | miller fisher syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0000602 | Ophthalmoplegia | 5 HP:0001251 | Ataxia | 4 HP:0001284 | Areflexia | 1 HP:0007824 | Total ophthalmoplegia | 1 HP:0010628 | Facial palsy, unilateral or bilateral | 1 HP:0007002 | Motor axonal neuropathy | 1 HP:0002383 | Encephalitis | 1 HP:0003477 | Peripheral axonal neuropathy | 1 HP:0000501 | Glaucoma | 1 HP:0000520 | Anterior bulging of the globe of eye | 1 HP:0000544 | CPEO | 1 HP:0009916 | Asymmetric pupil sizes | 1 HP:0040129 | Nerve conduction abnormalities | 1 HP:0011499 | Mydriasis | 1 |
| Disease ID | 1399 |
|---|---|
| Disease | miller fisher syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0029089 | ophthalmoplegia | 5 C0004134 | ataxia | 4 C0162292 | external ophthalmoplegia | 1 C0004093 | weakness | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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Text Mining Genotype(Total Genotypes:0) | |
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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 | 1399 |
|---|---|
| Disease | miller fisher syndrome |
| Case | (Waiting for update.) |