Free sialic acid storage disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 29 |
| OrphanetNr: | 834 |
| OMIM Id: |
269920
604369 |
| ICD-10: |
E77.8 |
| UMLs: |
C2931872 |
| MeSH: |
C538523 |
| MedDRA: |
10067529 10067531 |
| Snomed: |
238051008 87074006 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of lysosomal amino acid transport
-Rare genetic disease Lysosomal disease with epilepsy -Rare neurologic disease Lysosomal storage disease with skeletal involvement -Rare bone disease -Rare genetic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
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(HPO:0000093) | Proteinuria | Occasional [Orphanet] | 169 / 7739 | |||
|
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(HPO:0000100) | Nephrotic syndrome | Occasional [Orphanet] | 83 / 7739 | |||
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(HPO:0001999) | Abnormal facial shape | Frequent [Orphanet] | 169 / 7739 | |||
|
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(HPO:0001107) | Ocular albinism | Frequent [Orphanet] | 40 / 7739 | |||
|
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
|
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(HPO:0000657) | Oculomotor apraxia | Frequent [Orphanet] | 54 / 7739 | |||
|
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(HPO:0011442) | Abnormality of central motor function | Very frequent [Orphanet] | 76 / 7739 | |||
|
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(HPO:0007256) | Abnormal pyramidal signs | Very frequent [Orphanet] | 116 / 7739 | |||
|
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0004305) | Involuntary movements | Frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0001760) | Abnormality of the foot | Very frequent [Orphanet] | 96 / 7739 | |||
|
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
|
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(HPO:0002652) | Skeletal dysplasia | Frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0001789) | Hydrops fetalis | Frequent [Orphanet] | 63 / 7739 | |||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001541) | Ascites | Frequent [Orphanet] | 94 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
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(HPO:0001744) | Splenomegaly | Occasional [Orphanet] | 337 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001000) | Abnormality of skin pigmentation | Frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0040065) | Abnormal morphology of bones of the upper limbs | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|