Glanzmann thrombasthenia 1

Preferred Label : Glanzmann thrombasthenia 1;

Symbol : GT1;

CISMeF acronym : BDPLT2; GT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombasthenia of glanzmann and naegeli; Bleeding disorder, platelet-type, 2; Platelet glycoprotein iib-iiia deficiency; GT; BDPLT2; Platelet fibrinogen receptor deficiency; Gp iib-iiia complex deficiency; Glycoprotein complex iib-iiia deficiency; Glanzmann thrombasthenia;

Description : Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa platelet surface fibrinogen receptor complex resulting from mutations in either the GPIIb or GPIIIa genes (Rosenberg et al., 1997). See 187800 for discussion of a possible dominant form.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the integrin, beta-3 gene (ITGB3, 173470.0001); Caused by mutation in the integrin, alpha-2b gene (ITGA2B, 607759.0002);

Laboratory abnormalities : Prolonged bleeding time; Deficiency of glycoprotein (GP)IIb-IIIa complex;

Prefixed ID : #273800;

Details

Origin ID

273800;

UMLS CUI

C0040015;

Automatic exact mappings (from CISMeF team)
- Gastrotropin [NCIt concept]
- Glanzmann thrombasthenia, type A [MeSH concept]
- ITGA2B wt Allele [NCIt concept]
- ITGB3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Decreased platelet glycoprotein IIb-IIIa [HPO term]
- Glanzmann Thrombasthenia [NCIt concept]
- Glanzmann disease [Disease (Nov.)]
- Glanzmann thrombasthenia [PASCAL descriptor]
- Glanzmann thrombasthenia [ICD-11 More detail]
- Glanzmann thrombasthenia [ORDO Disease]
- Glanzmann's disease [MedDRA Preferred Term]
- Glanzmann's disease [MedDRA LLT]
- Glanzmann's thrombasthenia [DO Concept]
- Glanzmann's thrombasthenia (disorder) [SNOMED CT concept]
- hereditary thromboasthenia, nos [SNOMED Notion]
- thrombasthenia [MeSH Descriptor]
- thrombasthenia [MeSH concept]
DO Cross reference
- Glanzmann's thrombasthenia [DO Concept]
False automatic mappings
- Greater Than [NCIt concept]
- Guatemala [NCIt concept]
Genes related to phenotype
- Integrin, alpha-2b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Decreased platelet glycoprotein IIb-IIIa [HPO term]
- Epistaxis [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Gingival bleeding [HPO term]
- Impaired clot retraction [HPO term]
- Impaired platelet aggregation [HPO term]
- Intracranial hemorrhage [HPO term]
- Menorrhagia [HPO term]
- Prolonged bleeding time [HPO term]
- Purpura [HPO term]
Not associated HPO term(s)
- Abnormal platelet count [HPO term]
ORDO concept(s)
- Glanzmann thrombasthenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glanzmann Thrombasthenia [NCIt concept]
- Glanzmann disease [Disease (Nov.)]
- Glanzmann thrombasthenia [ORDO Disease]
- Glanzmann's disease [MedDRA LLT]
- Glanzmann's disease [MedDRA Preferred Term]
- Glanzmann's thrombasthenia [DO Concept]
- Glanzmann's thrombasthenia (disorder) [SNOMED CT concept]
- Hereditary thrombasthenia [MedDRA LLT]
- THROMBOASTHENIA [WHO-ART Included Term]
- Thrombasthenia [MedDRA Preferred Term]
- Thrombasthenia [HPO term]
- Thromboasthenia [MedDRA LLT]
- hereditary thromboasthenia, nos [SNOMED Notion]
- thrombasthenia [MeSH Descriptor]
- thrombasthenia [MeSH concept]

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