Thrombocytopenia with beta-thalassemia, X-linked

Preferred Label : Thrombocytopenia with beta-thalassemia, X-linked;

Symbol : XLTT;

CISMeF acronym : XLTT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the GATA-binding protein 1 gene (GATA1, 305371.0006);

Laboratory abnormalities : Decreased UROS activity (1 patient);

Prefixed ID : #314050;

Détails

Origin ID

314050;

UMLS CUI

C1839161;

Automatic exact mappings (from CISMeF team)
- GATA1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Beta-thalassemia-X-linked thrombocytopenia syndrome [ORDO Disease]
- X-Linked Thrombocytopenia with Beta-Thalassemia [NCIt concept]
- X-linked thrombocytopenia with beta-thalassemia [DO Concept]
- thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [MeSH Supplementary Concept]
- thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [MeSH concept]
DO Cross reference
- X-linked thrombocytopenia with beta-thalassemia [DO Concept]
Genes related to phenotype
- Gata-binding protein 1 [OMIM gene]
HPO term(s)
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Hemolytic anemia [HPO term]
- Hirsutism [HPO term]
- Petechiae [HPO term]
- Prolonged bleeding time [HPO term]
- Reticulocytosis [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Beta-thalassemia-X-linked thrombocytopenia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta thalassemia X-linked thrombocytopenia syndrome (disorder) [SNOMED CT concept]
- Beta-thalassemia-X-linked thrombocytopenia syndrome [ORDO Disease]
- X-Linked Thrombocytopenia with Beta-Thalassemia [NCIt concept]
- X-linked thrombocytopenia with beta-thalassemia [DO Concept]
- thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [MeSH Supplementary Concept]
- thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients