Growth hormone insensitivity syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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GHIS
Short stature due to a defect in growth hormone receptor or post-receptor pathway
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Number of Symptoms
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26
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OrphanetNr:
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181393
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OMIM Id:
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ICD-10:
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E34.3
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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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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Rare endocrine growth disease
-Rare endocrine disease
Rare genetic hypothalamic or pituitary disease
-Rare genetic disease
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1
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(HPO:0000054)
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Micropenis |
Frequent [Orphanet]
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257 / 7739
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2
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(HPO:0001999)
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Abnormal facial shape |
Very frequent [Orphanet]
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169 / 7739
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3
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(HPO:0000239)
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Large fontanelles |
Occasional [Orphanet]
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135 / 7739
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4
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(HPO:0000232)
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Everted lower lip vermilion |
Very frequent [Orphanet]
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90 / 7739
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5
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(HPO:0000684)
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Delayed eruption of teeth |
Frequent [Orphanet]
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117 / 7739
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6
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(HPO:0000153)
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Abnormality of the mouth |
Very frequent [Orphanet]
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60 / 7739
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7
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(HPO:0000252)
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Microcephaly |
Very frequent [Orphanet]
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832 / 7739
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8
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(HPO:0000365)
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Hearing impairment |
Occasional [Orphanet]
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539 / 7739
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9
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(HPO:0011442)
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Abnormality of central motor function |
Occasional [Orphanet]
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76 / 7739
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10
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(HPO:0000819)
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Diabetes mellitus |
Frequent [Orphanet]
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131 / 7739
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11
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(HPO:0008373)
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Puberty and gonadal disorders |
Occasional [Orphanet]
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156 / 7739
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12
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(HPO:0000873)
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Diabetes insipidus |
Occasional [Orphanet]
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34 / 7739
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13
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(HPO:0005978)
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Type II diabetes mellitus |
Frequent [Orphanet]
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68 / 7739
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14
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(HPO:0000924)
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Abnormality of the skeletal system |
Frequent [Orphanet]
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114 / 7739
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15
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(HPO:0002750)
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Delayed skeletal maturation |
Frequent [Orphanet]
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250 / 7739
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16
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(HPO:0001956)
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Truncal obesity |
Occasional [Orphanet]
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39 / 7739
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17
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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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18
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(HPO:0004322)
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Short stature |
Very frequent [Orphanet]
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1232 / 7739
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19
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(HPO:0002213)
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Fine hair |
Frequent [Orphanet]
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77 / 7739
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20
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(HPO:0001597)
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Abnormality of the nail |
Occasional [Orphanet]
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115 / 7739
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21
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(HPO:0003119)
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Abnormality of lipid metabolism |
Very frequent [Orphanet]
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60 / 7739
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22
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(HPO:0001943)
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Hypoglycemia |
Frequent [Orphanet]
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131 / 7739
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23
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(HPO:0000855)
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Insulin resistance |
Very frequent [Orphanet]
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32 / 7739
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24
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(HPO:0001608)
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Abnormality of the voice |
Occasional [Orphanet]
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126 / 7739
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25
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(HPO:0010978)
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Abnormality of immune system physiology |
Occasional [Orphanet]
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148 / 7739
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26
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(HPO:0012758)
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Neurodevelopmental delay |
Occasional [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |