XLANP
MCID: ANM044
MIFTS: 22

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

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 58 74
Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalities 58 13
X-Linked Dyserythropoietic Anemia with Abnormal Platelets and Neutropenia 60
Anemia Without Thrombocytopenia, X-Linked 76
Anemia X-Linked with Variable Neutropenia 76
Xlanp 58
Xlawt 76

Characteristics:

Orphanet epidemiological data:

60
x-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Inheritance: X-linked recessive; Age of onset: All ages;

OMIM:

58
Miscellaneous:
onset in infancy
variable severity
variable involvement of hematologic parameters
favorable response to corticosteroid treatment

Inheritance:
x-linked recessive


HPO:

33
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 : 58 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)

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 abnormal platelet morphology

UniProtKB/Swiss-Prot : 76 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...

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 occasional (7.5%) HP:0001873
2 abnormal platelet morphology 33 occasional (7.5%) HP:0011875
3 impaired platelet aggregation 33 occasional (7.5%) HP:0003540
4 abnormal granulocytopoietic cell morphology 33 occasional (7.5%) HP:0012135
5 neutropenia 33 HP:0001875
6 macrocytic anemia 33 HP:0001972
7 abnormality of reticulocytes 33 HP:0004312
8 anisocytosis 33 HP:0011273
9 elliptocytosis 33 HP:0004445
10 increased hemoglobin 33 HP:0001900

Symptoms via clinical synopsis from OMIM:

58
Hematology:
poikilocytosis
anisocytosis
macrocytosis
increased fetal hemoglobin
anemia, macrocytic
more

Clinical features from OMIM:

300835

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:

42
Bone, Bone Marrow

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

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

# Title Authors Year
1
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. ( 24453067 )
2014
2
Altered translation of GATA1 in Diamond-Blackfan anemia. ( 24952648 )
2014
3
Recurrent GATA1 mutations in Diamond-Blackfan anaemia. ( 24766296 )
2014
4
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. ( 22706301 )
2012
5
An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. ( 16783379 )
2006
6
Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. ( 15895080 )
2005

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 NM_002049.3(GATA1): c.220del (p.Val74Serfs) deletion Pathogenic GRCh37 Chromosome X, 48649736: 48649736
2 GATA1 NM_002049.3(GATA1): c.220del (p.Val74Serfs) deletion Pathogenic GRCh38 Chromosome X, 48791329: 48791329
3 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh37 Chromosome X, 48649518: 48649518
4 GATA1 NM_002049.3(GATA1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs587776451 GRCh38 Chromosome X, 48791111: 48791111
5 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh37 Chromosome X, 48649736: 48649736
6 GATA1 NM_002049.3(GATA1): c.220G> C (p.Val74Leu) single nucleotide variant Pathogenic rs587776452 GRCh38 Chromosome X, 48791329: 48791329
7 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 GRCh37 Chromosome X, 48649610: 48649610
8 GATA1 NM_002049.3(GATA1): c.94G> A (p.Val32Ile) single nucleotide variant Uncertain significance rs782698349 GRCh38 Chromosome X, 48791203: 48791203

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....