Spastic paraplegia - nephritis - deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Fitzsimmons-Walson-Mellor syndrome |
| Number of Symptoms | 20 |
| OrphanetNr: | 2820 |
| OMIM Id: |
182690
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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: | 4 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant complex spastic paraplegia
-Rare genetic disease -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0000112) | Nephropathy | Very frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000794) | IgA deposition in the glomerulus | 4 / 7739 | ||||
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(HPO:0000097) | Focal segmental glomerulosclerosis | 37 / 7739 | ||||
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(HPO:0000093) | Proteinuria | Very frequent [Orphanet] | 169 / 7739 | |||
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(HPO:0008619) | Bilateral sensorineural hearing impairment | 23 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Very frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
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(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Occasional [Orphanet] | 288 / 7739 | |||
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
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(HPO:0000822) | Hypertension | Frequent [Orphanet] | 224 / 7739 | |||
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(OMIM) | Focal segmental proliferative lesions with sclerosis suggestive of mesangial IgA nephropathy on renal biopsy | 1 / 7739 | ||||
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(OMIM) | Variable spastic paraplegia | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Progressive nephropathy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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