ORPHA:274
Bernard-Soulier syndrome
Synonyms: Hemorrhagiparous thrombocytic dystrophy · Giant platelet syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bernard-Soulier syndrome | Hemorrhagiparous thrombocytic dystrophy · Giant platelet syndrome |
| fr | Syndrome de Bernard-Soulier | Dystrophie thrombocytaire hémorragipare · Syndrome des plaquettes sanguines géantes |
| de | Bernard-Soulier-Syndrom | Riesen-Plättchen-Syndrom · Thrombozytendystrophie, hämorrhagische |
| es | Síndrome de Bernard-Soulier | Distrofia trombocítica hemorrágica |
| it | Sindrome di Bernard-Soulier | Distrofia trombocitica emorragipara · Sindrome delle piastrine giganti |
| nl | Syndroom van Bernard-Soulier | Hemorragiparous trombocytische dystrofie · Megatrombocyten-syndroom · Reuzenbloedplaatjes-syndroom · Reuzentrombocytensyndroom |
| pt | Síndrome Bernard-Soulier | Distrofia trombocítica hemorragípara · Síndrome plaquetas gigantes |
| pl | Zespół Bernarda i Souliera | Zespół płytek olbrzymich |
| cs | Bernardův-Soulierův syndrom | Syndrom obrovských destiček · Bernard-Soulierův syndrom |
| uk | Синдром Бернара-Сульє | Синдром гігантських тромбоцитів · Геморагічна тромбоцитарна дистрофія |
| zh | 巨大血小板综合征 | 出血性血小板营养不良 |
| tr | Bernard-Soulier sendromu | Dev trombosit sendromu · Hemoragipar trombositik distrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 153670 | BTNT | validated | |
| OMIM | 231200 | E | validated | |
| ICD-10 | D69.1 | NTBT | inclusion | validated |
| ICD-11 | 3B62.01 | NTBT | index | validated |
| MONDO | 0009276 | E | validated | |
| MeSH | D001606 | E | validated | |
| UMLS | C0005129 | E | validated | |
| GARD | 2470 | E | validated | |
| MedDRA | 10057473 | 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:220452Isolated hereditary giant platelet disorder
rare genetic diseases; rare hematological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GP1BA | Disease-causing germline mutation(s) in | Assessed | HGNC:4439 | ENSG00000185245 | 606672 | 17p13.2 | glycoprotein Ib platelet subunit alpha | 22886561[PMID] |
| GP1BB | Disease-causing germline mutation(s) in | Assessed | HGNC:4440 | ENSG00000203618 | 138720 | 22q11.21 | glycoprotein Ib platelet subunit beta | 22886561[PMID] |
| GP9 | Disease-causing germline mutation(s) in | Assessed | HGNC:4444 | ENSG00000169704 | 173515 | 3q21.3 | glycoprotein IX platelet | 22886561[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 17109744[PMID]_24051937[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17109744[PMID] |
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
21 annotations · validated 2019-02-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011871 | Impaired ristocetin-induced platelet aggregation | |
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0011879 | Decreased platelet glycoprotein Ib-IX-V | |
| HP:0001902 | Giant platelets | |
| HP:0040185 | Macrothrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000132 | Menorrhagia | |
| HP:0000967 | Petechiae | |
| HP:0006298 | Prolonged bleeding after dental extraction | |
| HP:0007420 | Spontaneous hematomas | |
| HP:0004406 | Spontaneous, recurrent epistaxis | |
| Occasional (29-5%) | ||
| HP:0012143 | Abnormal megakaryocyte morphology | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000225 | Gingival bleeding | |
| HP:0002248 | Hematemesis | |
| HP:0012587 | Macroscopic hematuria | |
| HP:0004846 | Prolonged bleeding after surgery | |
| Very rare (<4-1%) | ||
| HP:0002099 | Asthma | |
| HP:0002076 | Migraine | |
| HP:0008738 | Partially duplicated kidney | |
| HP:0001250 | Seizure | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 24934643[PMID]_26226975[PMID]_28131619[PMID]_11222377[PMID]_1730088[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/274
- This record as JSON: /data/d/274.json