ORPHA:1802
Ghosal hematodiaphyseal dysplasia
Synonyms: Ghosal syndrome · Diaphyseal dysplasia-anemia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ghosal hematodiaphyseal dysplasia | Ghosal syndrome · Diaphyseal dysplasia-anemia syndrome |
| fr | Dysplasie hémato-diaphysaire de Ghosal | Syndrome de Ghosal · Syndrome de dysplasie diaphysaire-anémie |
| de | Dysplasie, hämatodiaphysäre, Typ Ghosal | Ghosal-Syndrom |
| es | Displasia diafisaria-anemia | Síndrome de Ghosal |
| it | Displasia emato-diafisaria di Ghosal | Displasia diafisaria - anemia · Sindrome di Ghosal |
| nl | Hematodiafysaire dysplasie, Ghosal-type | Diafysaire dysplasie - anemie-syndroom · Syndroom van Ghosal |
| pt | Displasia hematodiafisária Ghosal | Displasia diafisária-anemia · Síndrome Ghosal |
| pl | Ghosal hematodiaphyseal dysplasia | Dysplazja przynasadowa - niedokrwistość · Zespół Ghosala |
| cs | Ghosalova hematodiafyzární dysplázie | Syndrom zahrnující diafyzární dysplázii a anémii · Ghosalův syndrom |
| uk | Гематодіафізарна дисплазія Госаля | Діафізарна дисплазія-анемічний синдром · Синдром Госала |
| zh | Ghosal造血长骨骨干发育不全 | 骨干发育不全-贫血综合征 |
| tr | Ghosal hematodiafisyel displazi | Ghosal sendromu · Diyafizer displazi-anemi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231095 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0009274 | E | validated | |
| MeSH | C565551 | E | validated | |
| UMLS | C1856465 | E | validated | |
| GARD | 10297 | 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 (1):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBXAS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11609 | ENSG00000059377 | 274180 | 7q34 | thromboxane A synthase 1 | 18264100[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0001903 | Anemia | |
| HP:0006487 | Bowing of the long bones | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0005019 | Diaphyseal thickening | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1802
- This record as JSON: /data/d/1802.json