PITUITARY DWARFISM WITH LARGE SELLA TURCICA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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9
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OrphanetNr:
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OMIM Id:
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262710
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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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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No data available.
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1
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(HPO:0002690)
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Large sella turcica |
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12 / 7739
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2
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(HPO:0000821)
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Hypothyroidism |
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141 / 7739
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3
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(HPO:0000839)
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Pituitary dwarfism |
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7 / 7739
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4
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(HPO:0000824)
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Growth hormone deficiency |
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56 / 7739
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5
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(HPO:0001510)
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Growth delay |
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295 / 7739
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6
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(OMIM)
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Poor thyrotropin response to thyrotropin-releasing hormone |
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1 / 7739
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7
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(OMIM)
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Low response to growth hormone stimulation |
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1 / 7739
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8
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(OMIM)
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Deficient production of growth hormone and TSH |
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1 / 7739
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9
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |