Non-acquired isolated growth hormone deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital isolated growth hormone deficiency Congenital IGHD Congenital isolated GH deficiency |
| Number of Symptoms | 3 |
| OrphanetNr: | 631 |
| OMIM Id: |
173100
262400 262650 300123 307200 612781 |
| 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: |
Autosomal dominant Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonacquired pituitary hormone deficiency
-Rare endocrine disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0040075) | Hypopituitarism | Very frequent [Orphanet] | 32 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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