ORPHA:849
Glanzmann thrombasthenia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glanzmann thrombasthenia | |
| fr | Thrombasthénie de Glanzmann | |
| de | Thrombasthenie Glanzmann | |
| es | Trombastenia de Glanzmann | |
| it | Tromboastenia di Glanzmann | |
| nl | Glanzmann-trombasthenie | |
| pt | Trombastenia Glanzmann | |
| pl | Trombastenia Glanzmanna | |
| cs | Glanzmannova trombastenie | |
| uk | Тромбастенія Гланцмана | |
| zh | Glanzmann血小板减少症 | |
| tr | Glanzmann trombastenisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 273800 | BTNT | validated | |
| OMIM | 619267 | BTNT | validated | |
| ICD-10 | D69.1 | NTBT | inclusion | validated |
| ICD-11 | 3B62.0Y | NTBT | index | validated |
| MONDO | 0100326 | E | validated | |
| UMLS | C0040015 | E | validated | |
| GARD | 2478 | 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:275736Rare hemorrhagic disorder due to a qualitative platelet defect
rare genetic diseases; rare hematological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITGA2B | Disease-causing germline mutation(s) in | Assessed | HGNC:6138 | ENSG00000005961 | 607759 | 17q21.31 | integrin subunit alpha 2b | 21917754[PMID] |
| ITGB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6156 | ENSG00000259207 | 173470 | 17q21.32 | integrin subunit beta 3 | 21917754[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
20 annotations · validated 2019-02-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003010 | Prolonged bleeding time | |
| HP:0004406 | Spontaneous, recurrent epistaxis | |
| Frequent (79-30%) | ||
| HP:0000978 | Bruising susceptibility | |
| HP:0000225 | Gingival bleeding | |
| HP:0004846 | Prolonged bleeding after surgery | |
| HP:0030137 | Prolonged bleeding following circumcision | |
| Occasional (29-5%) | ||
| HP:0031364 | Ecchymosis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0012587 | Macroscopic hematuria | |
| HP:0400008 | Menometrorrhagia | |
| HP:0000132 | Menorrhagia | |
| HP:0000979 | Purpura | |
| HP:0007420 | Spontaneous hematomas | |
| Very rare (<4-1%) | ||
| HP:0011871 | Impaired ristocetin-induced platelet aggregation | |
| Excluded (0%) | ||
| HP:0004866 | Impaired ADP-induced platelet aggregation | |
| HP:0011870 | Impaired arachidonic acid-induced platelet aggregation | |
| HP:0031128 | Impaired collagen-related peptide-induced platelet aggregation | |
| HP:0008148 | Impaired epinephrine-induced platelet aggregation | |
| HP:0011872 | Impaired thrombin-induced platelet aggregation | |
| HP:0011894 | Impaired thromboxane A2 agonist-induced platelet aggregation | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 27539755[PMID]_30031712[PMID]_29985398[PMID]_26185478[PMID]_29575615[PMID]_25728920[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/849
- This record as JSON: /data/d/849.json