Generalized resistance to thyroid hormone
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Refetoff syndrome Deafness - thyroid hormone resistance |
| Number of Symptoms | 13 |
| OrphanetNr: | 3221 |
| OMIM Id: |
188570
274300 |
| ICD-10: |
E07.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
237560005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare hyperthyroidism
-Rare endocrine disease -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
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(HPO:0000444) | Convex nasal ridge | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0007018) | Attention deficit hyperactivity disorder | 56 / 7739 | ||||
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(HPO:0000750) | Delayed speech and language development | 197 / 7739 | ||||
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(HPO:0000820) | Abnormality of the thyroid gland | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0000853) | Goiter | 39 / 7739 | ||||
|
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(HPO:0002930) | Thyroid hormone receptor defect | 5 / 7739 | ||||
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(HPO:0011788) | Increased serum free triiodothyronine | 1 / 7739 | ||||
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(HPO:0000912) | Sprengel anomaly | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0010655) | Epiphyseal stippling | Very frequent [Orphanet] | 32 / 7739 | |||
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(HPO:0000768) | Pectus carinatum | Very frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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