Isolated thyrotropin-releasing hormone deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TRH DEFICIENCY HYPOTHALAMIC HYPOTHYROIDISM Isolated TSH-releasing factor deficiency Isolated TRF deficiency Isolated thyroliberin deficiency Isolated prothyroliberin deficiency Isolated TRH deficiency Isolated thyrotropin-releasing factor deficiency Isolated protirelin deficiency |
| Number of Symptoms | 11 |
| OrphanetNr: | 238670 |
| OMIM Id: |
275120
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| ICD-10: |
E03.1 |
| 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: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Central congenital hypothyroidism
-Rare endocrine disease -Rare genetic disease |
Symptom Information:
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0008237) | Hypothalamic hypothyroidism | 1 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
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(HPO:0002019) | Constipation | 194 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000958) | Dry skin | 152 / 7739 | ||||
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(HPO:0001609) | Hoarse voice | 34 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(OMIM) | Thyrotropin-releasing hormone (TRH) deficiency | 1 / 7739 | ||||
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(OMIM) | Low thyroxin | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Niimi et al. (1982) reported a girl with isolated deficiency of thyrotropin-releasing hormone (TRH; 613879). The parents were unrelated. She was seen at age 4 years for short stature. The authors suggested that TRH-synthesizing enzyme in the hypothalamus ... |