Gorham-Stout disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GORHAM-STOUT DISEASE OSTEOLYSIS, MASSIVE GSD Essential osteolysis Diffuse cystic angiomatosis of bone Vanishing bone disease Phantom bone disease Idiopathic massive osteolysis Gorham syndrome Massive osteolysis Gorham disease Progressive massive osteolysis |
| Number of Symptoms | 5 |
| OrphanetNr: | 73 |
| OMIM Id: |
123880
|
| ICD-10: |
M89.5 |
| UMLs: |
C0029438 |
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
1515008 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 300 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Complex - combined vascular malformation
-Rare circulatory system disease -Rare developmental defect during embryogenesis Congenital vascular bone syndrome -Rare bone disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0002833) | Cystic angiomatosis of bone | 3 / 7739 | ||||
|
|
(OMIM) | Increased sclerosis with age | 1 / 7739 | ||||
|
|
(OMIM) | Diffuse cystic angiomatosis of bone | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Osteolytic lesions with a thin sclerotic rim throughout the length of long bones | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|