Tremor - nystagmus - duodenal ulcer
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Neuhauser-Daly-Magnelli syndrome |
| Number of Symptoms | 9 |
| OrphanetNr: | 3350 |
| OMIM Id: |
190310
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare tremor disorder
-Rare neurologic disease |
Symptom Information:
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0002592) | Gastric ulcer | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0002588) | Duodenal ulcer | 15 / 7739 | ||||
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(HPO:0001317) | Abnormality of the cerebellum | 36 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(MedDRA:10015496) | Essential tremor | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Neuhauser et al. (1976) described tremor, nystagmus, and duodenal ulcer in multiple persons in a kindred. Essential tremor developed in 12 of 17 affected members. Alcohol controlled the tremor temporarily. Severely affected members became alcoholics. The most severely ... |