XLAWT
MCID: ANM044
MIFTS: 22

Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities (XLAWT)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

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:

Name: Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 57 73
Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalities 57 13
X-Linked Dyserythropoietic Anemia with Abnormal Platelets and Neutropenia 59
Anemia Without Thrombocytopenia, X-Linked 75
Anemia X-Linked with Variable Neutropenia 75
Xlanp 57
Xlawt 75

Characteristics:

Orphanet epidemiological data:

59
x-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Inheritance: X-linked recessive; Age of onset: All ages;

OMIM:

57
Miscellaneous:
onset in infancy
variable severity
two unrelated families and 1 isolated patient have been reported (last curated june 2012)
variable involvement of hematologic parameters
favorable response to corticosteroid treatment (1 family)

Inheritance:
x-linked recessive


HPO:

32
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:



Summaries for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

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). (300835)

MalaCards based summary : Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities, is also known as anemia, x-linked, with/without neutropenia and/or platelet abnormalities. 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 and bone marrow, and related phenotypes are thrombocytopenia and neutropenia

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

Symptoms & Phenotypes for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

Symptoms via clinical synopsis from OMIM:

57
Hematology:
poikilocytosis
anisocytosis
macrocytosis
increased fetal hemoglobin
anemia, macrocytic
more

Clinical features from OMIM:

300835

Human phenotypes related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 occasional (7.5%) HP:0001873
2 neutropenia 32 HP:0001875
3 abnormal platelet morphology 32 occasional (7.5%) HP:0011875
4 macrocytic anemia 32 HP:0001972
5 abnormality of reticulocytes 32 HP:0004312
6 anisocytosis 32 HP:0011273
7 elliptocytosis 32 HP:0004445
8 increased hemoglobin 32 HP:0001900
9 impaired platelet aggregation 32 occasional (7.5%) HP:0003540
10 abnormal granulocytopoietic cell morphology 32 occasional (7.5%) HP:0012135

Drugs & Therapeutics for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

Search Clinical Trials , NIH Clinical Center for Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities

Genetic Tests for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

Anatomical Context for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

MalaCards organs/tissues related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities:

41
Bone, Bone Marrow

Publications for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

Variations for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

ClinVar genetic disease variations for Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA1 GATA1, 332G-C single nucleotide variant Pathogenic
2 GATA1 GATA1, 1-BP DEL, 332G deletion Pathogenic

Expression for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

Search GEO for disease gene expression data for Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities.

Pathways for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

GO Terms for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

Sources for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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