Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Furukawa-Takagi-Nakao syndrome |
| Number of Symptoms | 8 |
| OrphanetNr: | 2579 |
| OMIM Id: |
158500
|
| ICD-10: |
|
| UMLs: |
C0342281 C2931765 |
| MeSH: |
C538193 |
| MedDRA: |
|
| Snomed: |
237611007 |
Prevalence, inheritance and age of onset:
| Prevalence: | 10 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare hereditary ataxia
-Rare genetic disease -Rare neurologic disease Syndromic retinitis pigmentosa -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
|
|
(HPO:0001251) | Ataxia | 413 / 7739 | ||||
|
|
(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
|
|
(HPO:0000819) | Diabetes mellitus | 131 / 7739 | ||||
|
|
(HPO:0005978) | Type II diabetes mellitus | Very frequent [Orphanet] | 68 / 7739 | |||
|
|
(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 | |||
|
|
(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|