Bleeding disorder, platelet-type, 16

Preferred Label : Bleeding disorder, platelet-type, 16;

Symbol : BDPLT16;

CISMeF acronym : BDPLT16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glanzmann thrombasthenia-like with macrothrombocytopenia 1;

Description : Glanzmann thrombasthenia is a bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Glanzmann thrombasthenia, see 273800.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the integrin, beta-3 gene (ITGB3, 173470.0018); Caused by mutation in the integrin, alpha-2b gene (ITGA2B, 607759.0017);

Prefixed ID : #187800;

Details

Origin ID

187800;

UMLS CUI

C5442010;

Broader ORDO disease(s)
- Glanzmann thrombasthenia [ORDO Disease]
Currated CISMeF NLP mapping
- glanzmann thrombasthenia, autosomal dominant [MeSH concept]
- glanzmann thrombasthenia, autosomal dominant [MeSH Supplementary Concept]
- platelet-type bleeding disorder 16 [DO Concept]
DO Cross reference
- platelet-type bleeding disorder 16 [DO Concept]
Genes related to phenotype
- Integrin, alpha-2b [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Giant platelets [HPO term]
- Impaired platelet aggregation [HPO term]
- Macrothrombocytopenia [HPO term]
- Petechiae [HPO term]
- Platelet anisocytosis [HPO term]
- Thrombasthenia [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Autosomal dominant macrothrombocytopenia [ORDO Disease]
See also inter- (CISMeF)
- ITGA2B wt Allele [NCIt concept]
- ITGB3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- glanzmann thrombasthenia, autosomal dominant [MeSH Supplementary Concept]
- glanzmann thrombasthenia, autosomal dominant [MeSH concept]
- platelet-type bleeding disorder 16 [DO Concept]
Validated automatic mappings to NTBT
- Glanzmann thrombasthenia [ORDO Disease]

Keyword's position in hierarchy(ies) :

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