Congenital hypothyroidism due to developmental anomaly
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Primary congenital hypothyroidism due to developmental anomaly
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Number of Symptoms
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24
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OrphanetNr:
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95711
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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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21.3
of 100 000
[Orphanet]
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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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Primary congenital hypothyroidism
-Rare endocrine disease
-Rare genetic disease
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1
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(HPO:0000606)
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Abnormality of the periorbital region |
Occasional [Orphanet]
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96 / 7739
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2
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(HPO:0000158)
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Macroglossia |
Very frequent [Orphanet]
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119 / 7739
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3
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(HPO:0000470)
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Short neck |
Occasional [Orphanet]
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345 / 7739
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4
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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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5
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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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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:0008373)
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Puberty and gonadal disorders |
Occasional [Orphanet]
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156 / 7739
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8
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(HPO:0000821)
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Hypothyroidism |
Very frequent [Orphanet]
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141 / 7739
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9
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(HPO:0000820)
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Abnormality of the thyroid gland |
Very frequent [Orphanet]
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19 / 7739
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10
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(HPO:0005990)
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Thyroid hypoplasia |
Very frequent [Orphanet]
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21 / 7739
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11
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(HPO:0001176)
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Large hands |
Frequent [Orphanet]
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43 / 7739
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12
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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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13
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(HPO:0001396)
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Cholestasis |
Very frequent [Orphanet]
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136 / 7739
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14
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(HPO:0002019)
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Constipation |
Very frequent [Orphanet]
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194 / 7739
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15
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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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16
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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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17
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(HPO:0000951)
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Abnormality of the skin |
Frequent [Orphanet]
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147 / 7739
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18
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(HPO:0001595)
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Abnormality of the hair |
Occasional [Orphanet]
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89 / 7739
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19
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(HPO:0011675)
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Arrhythmia |
Occasional [Orphanet]
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226 / 7739
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20
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(HPO:0002045)
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Hypothermia |
Frequent [Orphanet]
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27 / 7739
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21
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(HPO:0001608)
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Abnormality of the voice |
Frequent [Orphanet]
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126 / 7739
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22
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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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23
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(HPO:0001324)
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Muscle weakness |
Frequent [Orphanet]
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859 / 7739
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24
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(HPO:0012758)
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Neurodevelopmental delay |
Frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |