Metachromatic leukodystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MLD Arylsulfatase A deficiency |
| Number of Symptoms | 31 |
| OrphanetNr: | 512 |
| OMIM Id: |
156310
249900 250100 |
| ICD-10: |
E75.2 |
| UMLs: |
C0023522 C2713319 |
| MeSH: |
C538597 D007966 |
| MedDRA: |
10067609 |
| Snomed: |
238031009 396338004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Leukodystrophy
-Rare genetic disease -Rare neurologic disease Metabolic disease with dementia -Rare genetic disease -Rare neurologic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease Rare hereditary metabolic disease with peripheral neuropathy -Rare genetic disease -Rare neurologic disease Sphingolipidosis -Rare genetic disease Sphingolipidosis with epilepsy -Rare neurologic disease Unclassified primitive or secondary maculopathy -Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0000020) | Urinary incontinence | 75 / 7739 | ||||
|
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(HPO:0000012) | Urinary urgency | 35 / 7739 | ||||
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
|
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(HPO:0100576) | Amaurosis fugax | Frequent [Orphanet] | 13 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
|
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(HPO:0002270) | Abnormality of the autonomic nervous system | 22 / 7739 | ||||
|
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(HPO:0003134) | Abnormality of peripheral nerve conduction | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0011442) | Abnormality of central motor function | Very frequent [Orphanet] | 76 / 7739 | |||
|
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(HPO:0001315) | Reduced tendon reflexes | Frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0004372) | Reduced consciousness/confusion | Very frequent [Orphanet] | 73 / 7739 | |||
|
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(HPO:0002251) | Aganglionic megacolon | Occasional [Orphanet] | 78 / 7739 | |||
|
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(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
|
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(HPO:0009830) | Peripheral neuropathy | Very frequent [Orphanet] | 206 / 7739 | |||
|
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
|
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0100543) | Cognitive impairment | Very frequent [Orphanet] | 230 / 7739 | |||
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(HPO:0002816) | Genu recurvatum | Very frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0002615) | Hypotension | 52 / 7739 | ||||
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(HPO:0003119) | Abnormality of lipid metabolism | Very frequent [Orphanet] | 60 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0003011) | Abnormality of the musculature | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0006926) | Metachromatic leukodystrophy variant | 1 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Frequent [Orphanet] | 187 / 7739 | |||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|