Hypothyroidism due to deficient transcription factors involved in pituitary development or function
General Information (adopted from Orphanet):
Synonyms, Signs:
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Number of Symptoms
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17
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OrphanetNr:
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226307
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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:
Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
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:0000239)
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Large fontanelles |
Very frequent [Orphanet]
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135 / 7739
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2
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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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3
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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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4
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(HPO:0000202)
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Oral cleft |
Frequent [Orphanet]
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|
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120 / 7739
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5
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(HPO:0100842)
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Septo-optic dysplasia |
Frequent [Orphanet]
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8 / 7739
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6
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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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7
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(HPO:0000821)
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Hypothyroidism |
Very frequent [Orphanet]
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141 / 7739
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8
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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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9
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(HPO:0001396)
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Cholestasis |
Very frequent [Orphanet]
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|
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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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|
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55 / 7739
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11
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(HPO:0002019)
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Constipation |
Very frequent [Orphanet]
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|
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194 / 7739
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12
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(HPO:0004325)
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Decreased body weight |
Very frequent [Orphanet]
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|
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492 / 7739
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13
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(HPO:0004322)
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Short stature |
Frequent [Orphanet]
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1232 / 7739
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14
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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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15
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(HPO:0001324)
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Muscle weakness |
Very frequent [Orphanet]
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859 / 7739
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16
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(HPO:0012758)
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Neurodevelopmental delay |
Frequent [Orphanet]
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949 / 7739
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17
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(HPO:0040075)
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Hypopituitarism |
Frequent [Orphanet]
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32 / 7739
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ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |