Anemia, X-linked, with or without neutropenia and/or platelet abnormalities

Preferred Label : Anemia, X-linked, with or without neutropenia and/or platelet abnormalities;

Symbol : XLANP;

CISMeF acronym : XLANP;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the GATA-binding protein 1 gene (GATA1, 305371.0008);

Prefixed ID : #300835;

Détails

Origin ID

300835;

UMLS CUI

C3550856;

Automatic exact mappings (from CISMeF team)
- Blackfan-Diamond anemia [ORDO Disease]
- GATA1 wt Allele [NCIt concept]
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia [ORDO Disease]
Genes related to phenotype
- Gata-binding protein 1 [OMIM gene]
HPO term(s)
- Abnormal erythrocyte morphology [HPO term]
- Abnormal granulocytopoietic cell morphology [HPO term]
- Abnormal platelet morphology [HPO term]
- Abnormal reticulocyte morphology [HPO term]
- Anisocytosis [HPO term]
- Elliptocytosis [HPO term]
- Impaired platelet aggregation [HPO term]
- Increased hemoglobin [HPO term]
- Infantile onset [HPO term]
- Macrocytic anemia [HPO term]
- Neutropenia [HPO term]
- Poikilocytosis [HPO term]
- Thrombocytopenia [HPO term]
- Variable expressivity [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked dyserythropoietic anemia with abnormal platelets and neutropenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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