PANHYPOPITUITARISM, X-LINKED
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PITUITARY DWARFISM IV, FORMERLY PHPX |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
312000
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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:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000839) | Pituitary dwarfism | 7 / 7739 | ||||
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(HPO:0000871) | Panhypopituitarism | 8 / 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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Additional Information:
| Clinical Description OMIM |
Zipf et al. (1977) reported 2 pre-pubertal males with X-linked hypopituitarism and gonadotropin deficiency. Mental deficiency was not reported. Woods et al. (2005) reported 2 Finnish male maternal half sibs with X-linked hypopituitarism. Clinical features included ... |
| Molecular genetics OMIM |
In affected members of 2 unrelated families with X-linked panhypopituitarism, Woods et al. (2005) identified duplications in the SOX3 gene (313430.0002 and 313430.0003, respectively). The findings implicated SOX3 in the development of the midline forebrain structures. None of ... |