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XLANP
MCID: ANM044
MIFTS: 25
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Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities (XLANP)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...
MalaCards integrated aliases for Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities:
Characteristics:Orphanet epidemiological data:58
x-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Inheritance: X-linked recessive; Age of onset: All ages; OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
onset in infancy variable severity variable involvement of hematologic parameters favorable response to corticosteroid treatment
Inheritance:
x-linked recessive HPO:31
anemia, x-linked, with or without neutropenia and/or platelet abnormalities:
Onset and clinical course variable expressivity infantile onset Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Bone diseases Immune diseases
ICD10:
33
Orphanet: 58
Rare haematological diseases |
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OMIM® :
57
XLANP is an X-linked recessive hematologic disorder characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia. Some patients may have low platelets or platelet abnormalities. The severity is variable. Some patients have shown a favorable response to corticosteroid treatment (summary by Hollanda et al., 2006 and Sankaran et al., 2012).
In some cases, the disorder may resemble Diamond-Blackfan anemia (see, e.g., DBA1; 105650) (Sankaran et al., 2012; Parrella et al., 2014; Klar et al., 2014). (300835) (Updated 05-Mar-2021)
MalaCards based summary : Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities, also known as x-linked dyserythropoietic anemia with abnormal platelets and neutropenia, is related to thrombocytopenia, x-linked, with or without dyserythropoietic anemia. An important gene associated with Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities is GATA1 (GATA Binding Protein 1). Affiliated tissues include bone marrow and bone, and related phenotypes are thrombocytopenia and abnormal platelet morphology Disease Ontology : 12 An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has material basis in hemizygous splice-site mutation in GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. UniProtKB/Swiss-Prot : 73 Anemia without thrombocytopenia, X-linked: A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals. |
Diseases related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities:31 (show all 10)
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MalaCards organs/tissues related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities:40
Bone Marrow,
Bone
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Articles related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities:
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Genes related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities:6
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Search
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for disease gene expression data for Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities.
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