Thrombocytopenia, X-linked, with or without dyserythropoietic anemia

Preferred Label : Thrombocytopenia, X-linked, with or without dyserythropoietic anemia;

Symbol : XLTDA;

CISMeF acronym : XLTDA;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the GATA-binding protein-1 gene (GATA1, 305371.0001);

Prefixed ID : #300367;

Détails

Origin ID

300367;

UMLS CUI

C3550789;

Automatic exact mappings (from CISMeF team)
- Dyserythropoietic anaemia with thrombocytopenia [ICD-11 More detail]
- GATA1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Thrombocytopenia with congenital dyserythropoietic anemia [ORDO Disease]
- X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia [NCIt concept]
- dyserythropoietic anemia with thrombocytopenia [MeSH Supplementary Concept]
- dyserythropoietic anemia with thrombocytopenia [MeSH concept]
DO Cross reference
- thrombocytopenia [DO Concept]
Genes related to phenotype
- Gata-binding protein 1 [OMIM gene]
HPO term(s)
- Acanthocytosis [HPO term]
- Anemia of inadequate production [HPO term]
- Bruising susceptibility [HPO term]
- Congenital thrombocytopenia [HPO term]
- Epistaxis [HPO term]
- Infantile onset [HPO term]
- Persistent bleeding after trauma [HPO term]
- Petechiae [HPO term]
- Poikilocytosis [HPO term]
- Variable expressivity [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Thrombocytopenia with congenital dyserythropoietic anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia [NCIt concept]

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