Resistance to thyrotropin-releasing hormone syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Central hypothyroidism due to TRH receptor deficiency
THR resistance syndrome
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Number of Symptoms
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12
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OrphanetNr:
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99832
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OMIM Id:
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ICD-10:
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E03.1
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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:
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Prevalence:
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2
cases
[Orphanet]
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Inheritance:
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Autosomal recessive
[Orphanet]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Central congenital hypothyroidism
-Rare endocrine disease
-Rare genetic disease
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1
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(HPO:0000158)
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Macroglossia |
Very frequent [Orphanet]
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119 / 7739
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2
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(HPO:0000239)
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Large fontanelles |
Very frequent [Orphanet]
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135 / 7739
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3
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(HPO:0000271)
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Abnormality of the face |
Very frequent [Orphanet]
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108 / 7739
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4
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(HPO:0000280)
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Coarse facial features |
Very frequent [Orphanet]
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189 / 7739
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5
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(HPO:0002360)
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Sleep disturbance |
Very frequent [Orphanet]
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113 / 7739
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6
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(HPO:0000821)
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Hypothyroidism |
Very frequent [Orphanet]
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141 / 7739
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7
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(HPO:0001537)
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Umbilical hernia |
Very frequent [Orphanet]
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206 / 7739
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8
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(HPO:0002019)
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Constipation |
Very frequent [Orphanet]
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194 / 7739
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9
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(HPO:0001396)
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Cholestasis |
Very frequent [Orphanet]
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136 / 7739
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10
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(HPO:0010318)
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Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
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55 / 7739
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11
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(HPO:0004325)
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Decreased body weight |
Very frequent [Orphanet]
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492 / 7739
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12
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(HPO:0001252)
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Muscular hypotonia |
Very frequent [Orphanet]
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990 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |