Alpha delta granule deficiency
Synonyms: Alpha dense granule deficiency · Combined alpha-delta platelet storage pool deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha delta granule deficiency | Alpha dense granule deficiency · Combined alpha-delta platelet storage pool deficiency |
| fr | Déficit en granules alpha et delta | Maladie des pools vides |
| de | Alpha- und Delta-Thrombozytengranula-Mangel | Alpha-und Dense-Granula-Defekt der Thrombozyten · Kombinierte Alpha-Delta-Storage-Pool-Krankheit |
| es | Deficiencia de gránulos alfa y delta | Deficiencia combinada alfa-delta de almacenamiento del pool plaquetario · Deficiencia de gránulos alfa y densos |
| it | Deficit dei granuli alfa e delta | Deficit dei granuli alfa e densi |
| nl | Alfa-delta-granuledeficiëntie | Gecombineerde alfa-delta trombocyt storage pool-deficiëntie · Alfa-compacte granuledeficiëntie |
| pt | Deficiência de grânulos alfa delta | Deficiência combinada de alfa-delta de armazenamento do pool plaquetário · Deficiência de grânulos alfa densos |
| pl | Niedobór ziarnistości alfa delta | Niedobór ziarnistości alfa |
| cs | Deficit alfa delta granul | Deficit alfa denzních granul |
| uk | Дефіцит альфа-дельта гранул | Дефіцит альфа-щільних гранул · Комбінований дефіцит альфа-дельта пулу зберігання тромбоцитів |
| zh | αΔ颗粒缺乏 | α-δ血小板贮池功能不足 |
| tr | Alfa delta granül eksikliği | Alfa yoğun granül eksikliği · Kombine alfa-delta trombosit depolama havuzu eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185050 | E | validated | |
| ICD-10 | D69.1 | NTBT | attributed | validated |
| ICD-11 | 3B62.4 | E | specific | validated |
| MONDO | 0008495 | E | validated | |
| UMLS | C5680090 | E | validated | |
| GARD | 5034 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GFI1B | Disease-causing germline mutation(s) in | Assessed | HGNC:4238 | ENSG00000165702 | 604383 | 9q34.13 | growth factor independent 1B transcriptional repressor | 28041820[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/734
- This record as JSON: /data/d/734.json