ORPHA:85182
Diaphyseal medullary stenosis-bone malignancy syndrome
Synonyms: Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome · Hardcastle syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diaphyseal medullary stenosis-bone malignancy syndrome | Bone dysplasia-medullary fibrosarcoma syndrome · Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome · Hardcastle syndrome |
| fr | Syndrome de sténose médullaire diaphysaire-tumeur osseuse | Syndrome de Hardcastle · Syndrome de dysplasie osseuse-fibrosarcome médullaire · Syndrome de sténose médullaire diaphysaire-histocytome fibreux |
| de | Diaphysäre medulläre Stenose - maligne Knochentumore | Diaphysäre medulläre Stenose - malignes fibröses Histiozytom · Knochendysplasie - medulläres Fibrosarkom |
| es | Síndrome de estenosis medular diafisaria-malignopatía ósea | Displasia ósea-fibrosarcoma medular · Estenosis medular diafisaria-histocitoma fibroso maligno |
| it | Stenosi del canale midollare diafisario - tumore osseo | Displasia ossea - fibrosarcoma midollare · Stenosi del canale midollare diafisario - istiocitoma fibroso maligno |
| nl | Diafysaire medullaire stenose - botmaligniteit-syndroom | Botdysplasie - medullair fibrosarcoom-syndroom · Diafysaire medullaire stenose - kwaadaardig fibreus histiocytoom-syndroom · Diafysaire medullaire stenose - maligne fibreus histiocytoom-syndroom · Syndroom van Hardcastle |
| pt | Estenose medular diafisária - neoplasia óssea | |
| pl | Zwężenie jamy szpikowej w trzonach kości - choroba rozrostowa kości | Dysplazja kości - włókniakomięsak szpiku · Zespół Hardcastle · Zwężenie jamy szpikowej w trzonach kości - złośliwa włóknista histiocytoma |
| cs | Syndrom zahrnující diafyzární medulární stenózu a kostní malignity | Syndrom zahrnující kostní dysplázii a medulární fibrosarkom · Syndrom zahrnující diafyzární medulární stenózu a maligní fibrózní histiocytom · Hardcastlův syndrom |
| uk | Діафізарний медулярний стеноз - злоякісний синдром кісток | Синдром кісткової дисплазії-медулярної фібросаркоми · Синдром діафізарного медулярного стенозу - злоякісна фіброзна гістіоцитома · Синдром Хардкасла |
| zh | 骨干髓腔狭窄-骨恶性肿瘤综合征 | 骨干髓质狭窄-恶性纤维组织细胞瘤综合征 |
| tr | Diafizer medüller stenoz-kemik malignite sendromu | Hardcastle sendromu · Kemik displazisi-medüller fibrosarkom sendromu · Diafizer medüller stenoz-habis fibröz histiyositoma sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112250 | E | validated | |
| ICD-10 | M89.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0007205 | E | validated | |
| MeSH | C536169 | E | validated | |
| UMLS | C1862177 | E | validated | |
| GARD | 10072 | 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 (3):
- ORPHA:183527Genetic bone tumor
rare genetic diseases - ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:68411Rare bone tumor
rare bone diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTAP | Disease-causing germline mutation(s) in | Assessed | HGNC:7413 | ENSG00000099810 | 156540 | 9p21.3 | methylthioadenosine phosphorylase |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85182
- This record as JSON: /data/d/85182.json