XLANP
MCID: ANM044
MIFTS: 25

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 57 6 71
X-Linked Dyserythropoietic Anemia with Abnormal Platelets and Neutropenia 12 58
Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalities 57 13
X-Linked Anemia with/without Neutropenia and/or Platelet Abnormalities 12
Anemia Without Thrombocytopenia, X-Linked 73
Anemia X-Linked with Variable Neutropenia 73
X-Linked Dyserythropoietic Anemia 12
Xlanp 57
Xlawt 73

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:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0112156
OMIM® 57 300835
MeSH 44 D000740
ICD10 via Orphanet 33 D64.4
Orphanet 58 ORPHA363727
UMLS 71 C3550856

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). 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.

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

Diseases related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thrombocytopenia, x-linked, with or without dyserythropoietic anemia 11.6

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 occasional (7.5%) HP:0001873
2 abnormal platelet morphology 31 occasional (7.5%) HP:0011875
3 impaired platelet aggregation 31 occasional (7.5%) HP:0003540
4 abnormal granulocytopoietic cell morphology 31 occasional (7.5%) HP:0012135
5 neutropenia 31 HP:0001875
6 macrocytic anemia 31 HP:0001972
7 elliptocytosis 31 HP:0004445
8 anisocytosis 31 HP:0011273
9 increased hemoglobin 31 HP:0001900
10 abnormal reticulocyte morphology 31 HP:0004312

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Hematology:
anisocytosis
poikilocytosis
macrocytosis
increased fetal hemoglobin
anemia, macrocytic
more

Clinical features from OMIM®:

300835 (Updated 05-Mar-2021)

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:

40
Bone Marrow, Bone

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 PMID Year
1
Recurrent GATA1 mutations in Diamond-Blackfan anaemia. 57 6
24766296 2014
2
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 6 57
24453067 2014
3
Altered translation of GATA1 in Diamond-Blackfan anemia. 6 57
24952648 2014
4
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 57 6
22706301 2012
5
An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. 6 57
16783379 2006
6
What's in a name? 57
22706300 2012
7
Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. 6
15895080 2005
8
Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23. 57
1999341 1991
9
CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia. 61
31572203 2019
10
GATA transcription factors in hematologic disease. 61
16158817 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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATA1 NM_002049.4(GATA1):c.220+1del Deletion Pathogenic 31942 rs587776453 X:48649736-48649736 X:48791329-48791329
2 GATA1 NM_002049.3(GATA1):c.2T>C (p.Met1Thr) SNV Pathogenic 156265 rs587776451 X:48649518-48649518 X:48791111-48791111
3 GATA1 NM_002049.3(GATA1):c.220G>C (p.Val74Leu) SNV Pathogenic 156266 rs587776452 X:48649736-48649736 X:48791329-48791329
4 GATA1 NM_002049.3(GATA1):c.94G>A (p.Val32Ile) SNV Uncertain significance 465135 rs782698349 X:48649610-48649610 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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