ORPHA:721
Gray platelet syndrome
Synonyms: Alpha storage pool deficiency · GPS · Platelet alpha-granule deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gray platelet syndrome | Alpha storage pool deficiency · GPS · Platelet alpha-granule deficiency |
| fr | Syndrome des plaquettes grises | GPS |
| de | Gray-platelet-Syndrom | Alpha-Granula-Mangel der Plättchen · Alpha-Storage-Pool-Krankheit · Alpha-Thrombozytengranula-Mangel · GPS · Graue Thrombozyten-Syndrom |
| es | Síndrome de plaquetas grises | Deficiencia de almacenamiento del pool de gránulos alfa · Deficiencia de gránulos alfa plaquetarios · GPS · Sindrome plaquetario gris |
| it | Sindrome delle piastrine grigie | Deficit dei granuli alfa delle piastrine · Deficit del pool di riserva dei granuli alfa · GPS |
| nl | Grijze bloedplaatjes-syndroom | Alfa-storage-pooldeficiëntie · Deficiëntie van alfa-granulen in bloedplaatjes · GPS |
| pt | Síndrome de plaquetas cinzentas | |
| pl | Zespół szarych płytek | GPS · Niedobór puli magazynowej alfa · Niedobór ziarnistości alfa w płytkach krwi · Zespół szarych płytek |
| cs | Syndrom šedých destiček | GPS · Deficit alfa střádavých granul · Deficit destičkových alfa-granul |
| uk | Синдром сірих тромбоцитів | Дефіцит пулу зберігання даних Alpha · GPS · Дефіцит альфа-гранул тромбоцитів |
| zh | 灰色血小板综合征 | α血小板-颗粒缺乏症 |
| tr | Gri trombosit sendromu | GPS · Alfa depolama havuzu eksikliği · Trombosit alfa granül eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 139090 | E | validated | |
| OMIM | 187900 | BTNT | validated | |
| ICD-10 | D69.1 | NTBT | inclusion | validated |
| ICD-11 | 3B62.00 | NTBT | index | validated |
| MONDO | 0007686 | E | validated | |
| MeSH | D055652 | E | validated | |
| UMLS | C0272302 | E | validated | |
| GARD | 2562 | 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:98455Alpha granule disease
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NBEAL2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:31928 | ENSG00000160796 | 614169 | 3p21.31 | neurobeachin like 2 | 21765411[PMID]_21765412[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
8 annotations · validated 2017-08-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0001872 | Abnormality of thrombocytes | |
| HP:0000978 | Bruising susceptibility | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0000140 | Abnormality of the menstrual cycle | |
| HP:0000421 | Epistaxis | |
| HP:0002863 | Myelodysplasia | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/721
- This record as JSON: /data/d/721.json