Central nervous system calcification - deafness - tubular acidosis - anemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Yoshimura-Takeshita syndrome |
| Number of Symptoms | 16 |
| OrphanetNr: | 3240 |
| OMIM Id: |
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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: | 2 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary renal tubular acidosis
-Rare genetic disease -Rare renal disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000124) | Renal tubular dysfunction | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0100543) | Cognitive impairment | Very frequent [Orphanet] | 230 / 7739 | |||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | Very frequent [Orphanet] | 363 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | Very frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0002024) | Malabsorption | Frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0004332) | Abnormality of lymphocytes | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0001935) | Microcytic anemia | Very frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0001873) | Thrombocytopenia | Frequent [Orphanet] | 224 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0001522) | Death in infancy | Frequent [Orphanet] | 275 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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