ORPHA:73
Gorham-Stout disease
Synonyms: Gorham disease · Gorham syndrome · Idiopathic massive osteolysis · Progressive massive osteolysis · Vanishing bone disease
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gorham-Stout disease | Gorham disease · Gorham syndrome · Idiopathic massive osteolysis · Progressive massive osteolysis · Vanishing bone disease |
| fr | Maladie de Gorham-Stout | Maladie de Gorham · Maladie de la disparition des os · Ostéolyse idiopathique massive · Ostéolyse massive progressive · Syndrome de Gorham |
| de | Gorham-Stout-Krankheit | Gorham-Krankheit · Gorham-Syndrom · Osteolyse, essentielle progrediente · Osteolyse, idiopathische massive · Vanishing-Bone-Krankheit |
| es | Enfermedad de Gorham-Stout | Enfermedad de Gorham · Enfermedad del hueso evanescente · Osteólisis masiva idiopática · Osteólisis masiva progresiva · Síndrome de Gorham |
| it | Malattia di Gorham-Stout | Malattia dell'osso che scompare · Malattia di Gorham · Osteolisi massiva idiopatica · Osteolisi massiva progressiva · Sindrome di Gorham |
| nl | Ziekte van Gorham-Stout | Fantoombotziekte · Gorhamsyndroom · Idiopathische massieve osteolyse · Progressieve massieve osteolyse · Verdwijnend bot-ziekte · Ziekte van Gorham |
| pt | Doença Gorham-Stout | Doença Gorham · Síndrome Gorham |
| pl | Choroba Gorhama i Stouta | Choroba Gorhama · Choroba znikających kości · Idiopatyczna masywna osteoliza · Postępująca masywna osteoliza · Zespół Gorhama |
| cs | Gorhamova-Stoutova choroba | Gorhamova nemoc · Idiopatická masivní osteolýza · Progresivní masivní osteolýza · Nemoc mizející kosti · Gorhamův syndrom · Gorham-Stoutova choroba |
| uk | Хвороба Горхема-Стаута | Хвороба Горхема · Синдром Горхема · Ідіопатичний масивний остеоліз · Прогресуючий масивний остеоліз · Зникаюча хвороба кісток |
| zh | 骨溶解症 | 进展性大块骨质溶解症 |
| tr | Gorham-Stout hastalığı | Gorham hastalığı · Gorham sendromu · Kaybolan kemik hastalığı · İdiyopatik masif osteoliz · İlerleyici masif osteoliz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123880 | E | validated | |
| ICD-10 | M89.5 | NTBT | attributed | validated |
| ICD-11 | FB86.2 | NTBT | index | validated |
| MONDO | 0007414 | E | validated | |
| UMLS | C0029438 | E | validated | |
| GARD | 6542 | E | validated | |
| MedDRA | 10071283 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:719950Complex lymphatic anomaly
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:235832Congenital vascular bone syndrome
rare genetic diseases; rare bone diseases - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:486955Rare pediatric rheumatologic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | [EXPERT]_20972870[PMID]_23897792[PMID]_25227772[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
36 annotations · validated 2021-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010639 | Elevated alkaline phosphatase of bone origin | |
| HP:0002797 | Osteolysis | |
| HP:0010657 | Patchy reduction of bone mineral density | |
| Frequent (79-30%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0011821 | Abnormality of facial skeleton | |
| HP:0002683 | Abnormality of the calvaria | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0011384 | Abnormality of the internal auditory canal | |
| HP:0012294 | Abnormality of the occipital bone | |
| HP:0010754 | Abnormality of the temporomandibular joint | |
| HP:0002653 | Bone pain | |
| HP:0005731 | Cortical irregularity | |
| HP:0000969 | Edema | |
| HP:0004302 | Functional motor deficit | |
| HP:0005216 | Impaired mastication | |
| HP:0100764 | Lymphangioma | |
| HP:0200025 | Mandibular pain | |
| HP:0009139 | Osteolysis involving bones of the lower limbs | |
| HP:0045039 | Osteolysis involving bones of the upper limbs | |
| HP:0000938 | Osteopenia | |
| HP:0031417 | Rhinorrhea | |
| HP:0000473 | Torticollis | |
| Occasional (29-5%) | ||
| HP:0430005 | Abnormality of ethmoid bone | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0045027 | Abnormality of the thoracic cavity | |
| HP:0007099 | Chiari type I malformation | |
| HP:0000365 | Hearing impairment | |
| HP:0007461 | Hemangiomatosis | |
| HP:0000265 | Mastoiditis | |
| HP:0002756 | Pathologic fracture | |
| HP:0002202 | Pleural effusion | |
| Very rare (<4-1%) | ||
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0001287 | Meningitis | |
| HP:0002754 | Osteomyelitis | |
| HP:0002176 | Spinal cord compression | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25405099[PMID]_28004375[PMID]_27829197[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/73
- This record as JSON: /data/d/73.json