ORPHA:806
Scott syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Scott syndrome | |
| fr | Syndrome de Scott | |
| de | Scott-Syndrom | |
| es | Síndrome de Scott | |
| it | Sindrome di Scott | |
| nl | Syndroom van Scott | |
| pt | Síndrome Scott | |
| pl | Zespół Scotta | |
| cs | Scottův syndrom | |
| uk | Синдром Скотта | |
| zh | Scott综合征 | |
| tr | Scott sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262890 | E | validated | |
| ICD-10 | D69.8 | NTBT | attributed | validated |
| ICD-11 | 3B62.Y | NTBT | index | validated |
| MONDO | 0009885 | E | validated | |
| MeSH | C563120 | E | validated | |
| UMLS | C0796149 | E | validated | |
| GARD | 4777 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:275736Rare hemorrhagic disorder due to a qualitative platelet defect
rare genetic diseases; rare hematological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANO6 | Disease-causing germline mutation(s) in | Assessed | HGNC:25240 | ENSG00000177119 | 608663 | 12q12 | anoctamin 6 | 21107324[PMID]_21511967[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 8608230[PMID]_15790791[PMID]_19814742[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.
6
HPO phenotypes
7 annotations · validated 2025-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011891 | Post-partum hemorrhage | |
| HP:0004846 | Prolonged bleeding after surgery | |
| Frequent (79-30%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0000421 | Epistaxis | |
| HP:0008151 | Prolonged prothrombin time | |
| Occasional (29-5%) | ||
| HP:0000225 | Gingival bleeding | |
| HP:0000132 | Menorrhagia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22027759[PMID]_31746257[PMID]_38492852[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/806
- This record as JSON: /data/d/806.json