Morgagni-Stewart-Morel syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
MORGAGNI-STEWART-MOREL SYNDROME Hyperostosis frontalis interna |
Number of Symptoms | 10 |
OrphanetNr: | 77296 |
OMIM Id: |
144800
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ICD-10: |
M85.2 |
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 X-linked recessive [Orphanet] |
Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Cranial malformation
-Rare developmental defect during embryogenesis Genetic cranial malformation -Rare genetic disease |
Symptom Information:
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(HPO:0000858) | Menstrual irregularities | 42 / 7739 | ||||
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(HPO:0004438) | Hyperostosis frontalis interna | 2 / 7739 | ||||
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(HPO:0100829) | Galactorrhea | 7 / 7739 | ||||
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(HPO:0000870) | Prolactin excess | 10 / 7739 | ||||
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(HPO:0000819) | Diabetes mellitus | 131 / 7739 | ||||
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(HPO:0001513) | Obesity | 172 / 7739 | ||||
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(HPO:0000998) | Hypertrichosis | 52 / 7739 | ||||
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(HPO:0003155) | Elevated alkaline phosphatase | 52 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Hyperphosphatasemia | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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