Isolated growth hormone deficiency type III
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital isolated GH deficiency type III X-linked IGHD Congenital IGHD type III X-linked isolated growth hormone deficiency Congenital isolated growth hormone deficiency type III |
| Number of Symptoms | 7 |
| OrphanetNr: | 231692 |
| OMIM Id: |
300123
307200 |
| ICD-10: |
E23.0 |
| 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: | No data available. |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-acquired isolated growth hormone deficiency
-Rare endocrine disease -Rare genetic disease |
Symptom Information:
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0000871) | Panhypopituitarism | 8 / 7739 | ||||
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(HPO:0000821) | Hypothyroidism | 141 / 7739 | ||||
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(HPO:0000824) | Growth hormone deficiency | 56 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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