METACHROMATIC LEUKODYSTROPHY, ADULT-ONSET, WITH NORMAL ARYLSULFATASEA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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10
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OrphanetNr:
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OMIM Id:
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156310
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
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Adult onset
[Omim]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0000012)
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Urinary urgency |
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35 / 7739
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2
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(HPO:0002459)
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Dysautonomia |
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34 / 7739
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3
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(HPO:0002270)
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Abnormality of the autonomic nervous system |
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22 / 7739
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4
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(HPO:0002271)
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Autonomic dysregulation |
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11 / 7739
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5
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(OMIM)
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Normal adrenals |
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1 / 7739
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6
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(OMIM)
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Excess sulfatides in brain white matter |
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1 / 7739
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7
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(OMIM)
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Normal arylsulfatase A levels |
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1 / 7739
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8
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(OMIM)
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Adult-onset metachromatic leukodystrophy variant |
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1 / 7739
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9
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(MedDRA:10021639)
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Incontinence |
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11 / 7739
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10
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(OMIM)
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Disabling hypotension |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |