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XLANP
MCID: ANM044
MIFTS: 67

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

Categories: Blood diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

About this section

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 56 71
Anemia 43 62 39 17
Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalities 56 13
X-Linked Dyserythropoietic Anemia with Abnormal Platelets and Neutropenia 58
Anemia Without Thrombocytopenia, X-Linked 73
Anemia X-Linked with Variable Neutropenia 73
Xlanp 56
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:

56
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
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 300835
MeSH 43 D000740
ICD10 via Orphanet 33 D64.4
Orphanet 58 ORPHA363727
UMLS 71 C3550856
Sources

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

About this section
PubMed Health : 62 About anemia: Anemia (uh-NEE-me-uh) is a condition in which your blood has a lower than normal number of red blood cells. Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that gives blood its red color. This protein helps red blood cells carry oxygen from the lungs to the rest of the body. If you have anemia, your body doesn't get enough oxygen-rich blood. As a result, you may feel tired or weak. You also may have other symptoms, such as shortness of breath, dizziness, or headaches. Severe or long-lasting anemia can damage your heart, brain, and other organs in your body. Very severe anemia may even cause death.

MalaCards based summary : Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities, also known as anemia, is related to iron-refractory iron deficiency anemia and anemia, autoimmune hemolytic. An important gene associated with Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities is GATA1 (GATA Binding Protein 1), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and HIF-1-alpha transcription factor network. The drugs Iron protein succinylate and Warfarin have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and bone marrow, and related phenotypes are thrombocytopenia and abnormal platelet morphology

OMIM : 56 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)

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.

Sources

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

About this section

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

(show top 50) (show all 2666)
# Related Disease Score Top Affiliating Genes
1 iron-refractory iron deficiency anemia 34.5 HJV EPO
2 anemia, autoimmune hemolytic 34.4 HP G6PD FOXP3
3 heinz body anemias 34.2 HP HBB HBA2
4 anemia, sideroblastic, 1 34.1 TFRC HJV HBB HAMP GATA1
5 anemia of prematurity 34.0 HAMP EPOR EPO
6 diamond-blackfan anemia 34.0 TFRC RPS19 IL3 GATA1 EPOR EPO
7 refractory anemia 33.9 IL3 EPO CSF3
8 neonatal anemia 33.9 HBA2 EPOR EPO
9 rare deficiency anemia 33.9 TTR HBB FOXP3
10 myelophthisic anemia 33.9 HP EPO
11 anemia, congenital dyserythropoietic, type ia 33.9 TFRC HJV HAMP GATA1 EPO
12 anemia, congenital dyserythropoietic, type ib 33.8 HP HAMP GATA1 G6PD
13 congenital dyserythropoietic anemia 33.7 TFRC HFE HAMP GATA1 EPO
14 folic acid deficiency anemia 33.7 TFRC HAMP EPO CRP
15 sideroblastic anemia 33.7 TFRC HJV HFE HAMP
16 sickle cell anemia 33.6 HBB HBA2 G6PD EPO CSF3 CRP
17 glutathione peroxidase deficiency 33.5 HBB HBA2
18 sickle cell disease 33.4 HBB HBA2 G6PD EPO
19 glucosephosphate dehydrogenase deficiency 33.4 HP HBB G6PD
20 erythrocytosis, familial, 8 33.3 HBB HBA2 EPOR
21 hypochromic microcytic anemia 33.3 TFRC TF HJV HBB HBA2 HAMP
22 aplastic anemia 33.1 TFRC RPS19 IL3 HFE GATA1 FOXP3
23 hemolytic anemia 33.0 TFRC TF IL3 HP HBB HBA2
24 hereditary spherocytosis 32.9 TFRC HP HFE HBB GATA1 G6PD
25 iron deficiency anemia 32.8 TFRC TF HJV HFE HAMP G6PD
26 hydrops fetalis, nonimmune 32.5 HBB HBA2 GBA
27 transient erythroblastopenia of childhood 32.5 RPS19 EPO
28 splenomegaly 32.5 HBA2 GBA EPO
29 hemoglobin zurich 32.5 HBB HBA2
30 acute chest syndrome 32.4 HBB HBA2 G6PD CSF3
31 congenital hemolytic anemia 32.4 TFRC TF IL3 HP HBB HBA2
32 hypersplenism 32.3 FOXP3 EPO CSF3 ALB
33 hemoglobinuria 32.3 HP G6PD EPO CSF3
34 retinitis pigmentosa and erythrocytic microcytosis 32.3 IL3 EPO CSF3
35 pure red-cell aplasia 32.3 TF RPS19 EPOR EPO ALB
36 myelofibrosis 32.2 IL3 GATA1 EPOR EPO CSF3 CRP
37 atransferrinemia 32.1 TFRC TF HJV HFE HAMP
38 microcytic anemia 32.1 TFRC TF HJV HFE HBB HBA2
39 end stage renal disease 32.1 HFE EPO CRP ALB
40 aceruloplasminemia 31.9 TFRC HJV HFE HAMP
41 myeloma, multiple 31.9 TTR IL3 FOXP3 EPO CSF3 CRP
42 leukemia, acute lymphoblastic 31.8 IL3 HFE GATA1 EPOR CSF3
43 leukemia, chronic myeloid 31.7 IL3 GATA1 G6PD EPOR EPO CSF3
44 chronic kidney disease 31.6 TTR TF HP HAMP EPO CRP
45 deficiency anemia 31.6 TFRC TF HP HJV HFE HBB
46 alpha-thalassemia 31.6 TFRC HP HFE HBB HBA2 GATA1
47 hyperferritinemia with or without cataract 31.6 TFRC TF HJV HFE HAMP
48 red cell aplasia 31.5 TF EPO ALB
49 hemoglobin h disease 31.5 TFRC TF HBB HBA2 HAMP G6PD
50 celiac disease 1 31.4 TFRC HP HFE FOXP3 CRP ALB

Graphical network of the top 20 diseases related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities:



Diseases related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities
Sources

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

About this section

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:

56
Hematology:
poikilocytosis
anisocytosis
macrocytosis
increased fetal hemoglobin
anemia, macrocytic
more

Clinical features from OMIM:

300835

GenomeRNAi Phenotypes related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 ALB CSF3 EPOR GATA1 HFE TFRC

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.25 CSF3 EPO EPOR FOXP3 G6PD GATA1
2 homeostasis/metabolism MP:0005376 10.24 ALB CRP EPO EPOR FOXP3 G6PD
3 cardiovascular system MP:0005385 10.23 ALB CRP EPO EPOR FOXP3 G6PD
4 cellular MP:0005384 10.21 ALB EPO EPOR FOXP3 G6PD GATA1
5 immune system MP:0005387 10.13 ALB CRP CSF3 EPO EPOR FOXP3
6 integument MP:0010771 9.91 CSF3 EPO FOXP3 GATA1 GBA HBA2
7 liver/biliary system MP:0005370 9.85 ALB EPO EPOR FOXP3 GATA1 GBA
8 mortality/aging MP:0010768 9.8 ALB EPO EPOR FOXP3 G6PD GATA1
9 normal MP:0002873 9.28 ALB EPO EPOR FOXP3 GATA1 GBA
Sources

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

About this section

PubMed Health treatment related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities: 62

Treatment for anemia depends on the type, cause, and severity of the condition. Treatments may include dietary changes or supplements, medicines, procedures, or surgery to treat blood loss.

Drugs for Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 867)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Iron protein succinylate Approved, Investigational Phase 4 250705-13-6
2
Warfarin Approved Phase 4 81-81-2 6691 54678486
3
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
4
Acitretin Approved Phase 4 55079-83-9, 69427-46-9 6437841
5
Leuprolide Approved, Investigational Phase 4 53714-56-0 657181 3911
6
Esmolol Approved Phase 4 103598-03-4, 81147-92-4 59768
7
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
8
Metformin Approved Phase 4 657-24-9 14219 4091
9
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
10
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
11
Piperazine Approved, Vet_approved Phase 4 110-85-0 4837
12
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
13
Cinacalcet Approved Phase 4 226256-56-0 156419
14
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
15
Ferrous gluconate Approved Phase 4 299-29-6
16
Copper Approved, Investigational Phase 4 7440-50-8 27099
17
Mycophenolic acid Approved Phase 4 24280-93-1 446541
18
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
19
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
20
Nitric Oxide Approved Phase 4 10102-43-9 145068
21
Halofantrine Approved Phase 4 69756-53-2 37393
22
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
23
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
24
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
25
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
26
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
27
carbamide peroxide Approved Phase 4 124-43-6
28
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
29
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
30
Ledipasvir Approved Phase 4 1256388-51-8 67505836
31
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
32
Lumefantrine Approved Phase 4 82186-77-4 6437380
33
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
34
Quinine Approved Phase 4 130-95-0 8549 3034034
35
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
36
Testosterone enanthate Approved Phase 4 315-37-7 9416
37
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
38
Methyltestosterone Approved Phase 4 58-18-4 6010
39
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
40
Racepinephrine Approved Phase 4 329-65-7 838
41
Artemether Approved Phase 4 71963-77-4 68911 9796294 119380
42
Ticagrelor Approved Phase 4 274693-27-5 9871419
43
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
44
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
45
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
46
Polyestradiol phosphate Approved Phase 4 28014-46-2
47
Nevirapine Approved Phase 4 129618-40-2 4463
48
Lopinavir Approved Phase 4 192725-17-0 92727
49
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
50
Remifentanil Approved Phase 4 132875-61-7 60815

Interventional clinical trials:

(show top 50) (show all 4218)
# Name Status NCT ID Phase Drugs
1 Megadose of Hydroxocobalamin (Vitamin B12) for the Treatment of Pernicious Anemia Unknown status NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
2 Efficacy and Safety of Erythropoietin in the Treatment of Anemia in Patients With Lymphoma After Autologous Hematopoietic Stem Cell Transplantation Unknown status NCT03010579 Phase 4 erythropoietin;iron supplementation
3 The Value of Iron Treatment for Postoperative Patients With Anemia: a Randomized Double Blind Controlled Trial Unknown status NCT01975272 Phase 4 Ferinject;Ferrous fumarate;Placebo for ferrous fumarate;Placebo for ferinject
4 Phase 4 Study on the Efficacy of Erythropoietin Treatment in Patients With Systolic Left Ventricular Dysfunction, Mild Anemia and Normal Renal Function Unknown status NCT00418119 Phase 4 erythropoietin
5 Efficacy and Safety of Intravenous Iron Sucrose in Patients With Hip Fracture to Prevent Perioperative Anemia Unknown status NCT01084122 Phase 4 Iron sucrose
6 The Effect of a Nutrient Fortified Oat Drink on Iron, Zinc, Vitamin A, and Vitamin C Status Among Filipino Children Unknown status NCT01418898 Phase 4
7 A Multi-Center, Randomized, Open Label Trial to Evaluate the Utility of Serum Hepcidin Levels to Predict Response to Oral or IV Iron and Compare the Safety, Effect on Quality of Life, and Resource Utilization of Injectafer vs. Intravenous Iron Standard of Care for the Treatment of Iron Deficiency Anemia (IDA) in an Infusion Center Setting Unknown status NCT01950247 Phase 4 Injectafer;SOC
8 Treatment of Anemia in the 2nd Year of Life. Comparison of the Efficacy of Two Different Iron Preparations. Unknown status NCT00248716 Phase 4 Ferrous gluconate and iron polysaccharide complex
9 Randomized Cross-Over Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With Inflammatory Bowel Disease Unknown status NCT02774057 Phase 4 Captafer®;Iron Sulfate
10 Randomized, Parallel Group, Clinical Trial Comparing Intravenous Iron Sucrose Versus Oral Ferrous Sulphate in the Treatment of Perioperative Iron Deficiency in Patients With Colo-Rectal Neoplasm and Iron Deficiency Anemia. Unknown status NCT00199277 Phase 4 i.v. iron sucrose;Oral iron
11 Multi-center Clinical Study of Immunosuppressants, Cyclophosphamide, And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Unknown status NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
12 Moderate-dose Cyclophosphamide for Childhood Acquired Aplastic Anemia Unknown status NCT01995331 Phase 4 cyclophosphamide,cyclosporine A
13 Effect of Preoperative Ferric Carboxymaltose After Simultaneous Bilateral Total Knee Arthroplasty : A Randomized, Controlled, Double-Blind Trial Unknown status NCT03561506 Phase 4 Ferric carboxymaltose;0.9% Normal Saline
14 An Pilot Study to Assess the Efficacy of Intravenous Iron Isomaltoside 1000 (Monofer®) in the Management of Anaemia Associated With the Palliative Management of Oesophagogastric Adenocarcinoma Unknown status NCT01927328 Phase 4 Iron isomaltoside 1000
15 Different Doses of Anti-thymocyte Globin With 2.5 or 3.75mg/kg to Treat Child Severe Aplastic Anemia Unknown status NCT01997372 Phase 4 ATG
16 Multicenter Randomized Open-label Controlled Study to Investigate Treatment Response of IV Injectafer vs Oral Iron to Baseline Hepcidin Levels in Patients With Iron Deficiency Anemia Secondary to Inflammatory Bowel Disease or Gastric Bypass Unknown status NCT02086968 Phase 4 Injectafer;Ferrous Sulfate tablets
17 The Effects of Acetylcysteine on Alleviating Damage of Oxidative Stress in Hemodialysis Patients Unknown status NCT00247507 Phase 4 acetylcysteine
18 Anemia Treatment in Inflammatory Bowel Disease: Predictive Factors of Response to Oral Iron Treatment Unknown status NCT02760940 Phase 4 oral liposomal iron
19 Effektivität Der in Der Schwangerschaftsvorsorge routinemässig Angewandten Eisenprophylaxe Unknown status NCT02487719 Phase 4 Iron sulfate and Iron polymaltose for prevention of iron deficiency anemia
20 Effectiveness of Iron Supplementation in the Second Year of Life for Prevention of Iron Deficiency Unknown status NCT00479102 Phase 4 Ferripel-3 - iron polysaccharide complex for prevention
21 EArly Discharge After Transradial Stenting of CoronarY Arteries in High-Risk Patients of Bleeding: Bivalirudin to Reduce Bleeding EASY-B2B Study Unknown status NCT01084993 Phase 4 Bivalirudin;Heparin
22 The Effect of Intra Venus Ferric Carboxymaltose Preoperative on Hemoglobin and Blood Transfusion Post Cardiac Surgery Unknown status NCT02939794 Phase 4 Ferinject;Placebo
23 Effect of Intravenous Iron (Ferinject®) on Exercise Capacity and Quality of Life of Stable COPD Patients Unknown status NCT02416778 Phase 4 Ferric carboxymaltose, Ferinject® 50mg Iron/ml Solution for Injection / Infusion
24 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4 L-Carnitine Injection
25 Open Randomized Phase IV Study on Intravenous Iron in Anemic Patients With Chronic Kidney Disease Unknown status NCT00204256 Phase 4 Iron sucrose
26 Child With Severe Aplastic Anemia (SAA) Therapy: the Injection of Umbilical Cord Derived Mesenchymal Stem Cells. Unknown status NCT02218437 Phase 4 MSC+ATG
27 Investigation of Signal Pathway Induced by Colla Corri Asini Regulating Globin Level in Beta Thalassemia Patients With Pregnancy Anemia Unknown status NCT03392298 Phase 4 Colla corii asini
28 Effect of Postoperative Ferric Carboxymaltose After Simultaneous Bilateral Total Knee Arthroplasty : A Randomized, Controlled, Double-Blind Trial Unknown status NCT03561480 Phase 4 Ferric carboxymaltose;0.9% Normal Saline
29 Intermittent Treatment With Sulfadoxine-Pyrimethamine for Malaria Control in Children: A Randomised, Double Blind, and Placebo-Controlled Clinical Trial Unknown status NCT00168948 Phase 4 Sulfadoxin (12.5) Pyrimethamine (250 mg)
30 A Multi-Center, Open-Label, Randomized, Parallel Group Study of the Efficacy and Safety of Ferrlecit in the Maintenance of Iron Stores and Serum Hemoglobin Concentration in Hemodialysis Patients Receiving Erythropoietin. Unknown status NCT00223938 Phase 4 Oral Iron;sodium ferric gluconate;sodium ferric gluconate
31 The Impact of Intermittent Preventive Malaria Treatment With Artemisinin Combination Therapy (ACT) on Hemoglobin, Malaria, Schistosomiasis, and School Attention Among Primary Schoolchildren in the Kassena-Nankana Districts, Ghana Unknown status NCT01459146 Phase 4 Artemether-lumefantrine combination plus albendazole;Artemether-lumefantrine plus Praziquantel plus Albendazole;Albendazole plus Praziquantel
32 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
33 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03540472 Phase 4 tacrolimus
34 Effect of Mobile-Directly Observed Therapy (DOT) on Adherence to Hydroxyurea Treatment in Adult HbSS Patients at Muhimbili National Hospital (MNH) in Tanzania: a Pilot Study Unknown status NCT02844673 Phase 4 Hydroxyurea
35 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03364764 Phase 4 Sirolimus
36 Effect Of Intravenous Iron Versus Placebo On Muscle Oxidative Capacity And Physical Performance In Non Anemic Premenopausal Women With Low Ferritin Levels Unknown status NCT01374776 Phase 4 Double blind, randomized, placebo controlled inter
37 Predictors of Response to Treatment With Iron and Erythropoietin in Dialysis Anaemia Unknown status NCT02707757 Phase 4 Iron sucrose;Erythopoietin stimulating agent
38 A Pilot Study to Assess the Efficacy and Safety of Folic Acid and/or Vitamin B Complex on Hepatitis C Infected Patients Treated With Pegylated Interferon and Ribavirin. Unknown status NCT02150291 Phase 4 Neurobion;placebo
39 A Randomized, Double-blind, Multi-center Clinical Trial Prospectively Evaluating Iron Protein Succinylate Oral Solution in Treating Patients With Chronic Heart Failure and Iron Deficiency Unknown status NCT03344523 Phase 4 Iron protein succinylate oral solution
40 How Many Patients Are in Need of Vitamin B12 Injections? Unknown status NCT00326833 Phase 4 vitamin B12
41 Safety of Ticagrelor Plus Warfarin Versus Clopidogrel+Aspirin+Warfarin in Patients With Persistent or Permanent Atrial Fibrillation and Undergoing PCI-S: A Randomized, Open, Controlled, Parallel Group, Multi-center Trial Unknown status NCT02206815 Phase 4 Ticagrelor+Warfarin;Clopidogrel+Aspirin+Warfarin
42 A Randomized, Placebo Controlled, Double Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance Unknown status NCT00103753 Phase 4 deferiprone
43 A Prospective, Randomized, Double Blind, Parallel Group Study to Establish the Therapeutic Equivalence of EPIAO® With the Standard Treatment EPREX® in Subjects With Chronic Kidney Disease (CKD) Related Anaemia Not Yet on Dialysis Unknown status NCT02522975 Phase 4 EPIAO®;EPREX®
44 The Impact of Treatment of Anaemia With Intravenous Iron on Haematological Values for Patients After Colorectal Surgery Unknown status NCT02999217 Phase 4 Iron isomaltoside;Saline
45 Effect of Iron Supplementation on Psychomotor Development of Non-anemic Exclusively or Predominantly Breastfed Infants: Randomized, Double-blind, Placebo-controlled Trial. Unknown status NCT02242188 Phase 4 Iron
46 An Open Label Trial to Show That Subjects With Severe Plaque-Type Psoriasis Receiving Acitretin 25 mg/Day And Stabilized On A Photochemotherapy Regimen Who Are Experiencing Retinoid-Related Adverse Events, Benefit From A Reduction In Acitretin Dose to 17.5 mg/Day, While Maintaining Comparable Efficacy Along With Improved Tolerability Unknown status NCT01228409 Phase 4 Acitretin 17.5 mg/day
47 Effect of Intravenous Tranexamic Acid on Reduction of Blood Losses in Hip Fracture Patients. A Randomized, Controlled, Double-blind Study Unknown status NCT03211286 Phase 4 Tranexamic Acid;Saline Solution
48 Ulipristal Acetate Versus GnRH Analogue for Myometrial Preservation in Patients With Submucosal Uterine Leiomyoma G2 Unknown status NCT02357563 Phase 4 ulipristal acetate;Leuprolide acetate
49 Does Intraoperative Intravenous Iron Sucrose Enhance Postoperative Oxygenation Profile in Total Arthroplasty Surgery? Unknown status NCT02544828 Phase 4 Iron Sucrose 200mg;placebo
50 Effects of an Exercise Program in Patients With Hypertensive Chronic Kidney Disease: a Randomized Clinical Trial Unknown status NCT01155128 Phase 4

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

Cochrane evidence based reviews: anemia

Sources

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

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Sources

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

About this section

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

40
Kidney, Bone, Bone Marrow, Heart, Myeloid, Liver, Testes
Sources

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

About this section

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

(show top 50) (show all 30933)
# Title Authors PMID Year
1
Altered translation of GATA1 in Diamond-Blackfan anemia. 56 6 61
24952648 2014
2
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. 61 6 56
24453067 2014
3
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. 61 6 56
22706301 2012
4
Recurrent GATA1 mutations in Diamond-Blackfan anaemia. 56 6
24766296 2014
5
An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. 6 56
16783379 2006
6
What's in a name? 56
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. 56
1999341 1991
9
Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia. 61 54
20395159 2010
10
Anemia in Hodgkin's lymphoma: the role of interleukin-6 and hepcidin. 61 54
20406921 2010
11
Polyarthritis and anemia in a hemodialysis patient: systemic lupus erythematosus following treatment with interferon alpha. 54 61
20353741 2010
12
Hematological predictors of increased severe anemia in Kenyan children coinfected with Plasmodium falciparum and HIV-1. 61 54
20196168 2010
13
Iron regulatory hormone hepcidin decreases in chronic heart failure patients with anemia. 61 54
20019408 2010
14
Hemolytic anemia after zopiclone overdose. 61 54
19821637 2009
15
Hemochromatosis gene mutations and treatment of anemia in patients on hemodialysis. 54 61
19732172 2009
16
[Management of anemia and bone marrow hypoplasia in the treatment of myeloid leukemia]. 54 61
19860200 2009
17
MIF (macrophage migration inhibitory factor) promoter polymorphisms and susceptibility to severe malarial anemia. 61 54
19591577 2009
18
[Anemia in hospitalized patients with cirrhosis: prevalence, clinical relevance and predictive factors]. 61 54
19663083 2009
19
Role of interleukin-6 in the anemia of chronic disease. 61 54
18336871 2009
20
Causes and consequences of inflammation on anemia management in hemodialysis patients. 61 54
19432697 2009
21
Novel models of cancer-related anemia in mice inoculated with IL-6-producing tumor cells. 61 54
19265263 2009
22
Current controversies in the management of the anemia of prematurity. 61 54
19167579 2009
23
[Density-specific distribution of erythrocytes in different types of anemia]. 54 61
19253711 2009
24
[Expression of erythropoietin receptor in leukemia cells and relation of erythropoietin level with leukemic anemia]. 61 54
19099624 2008
25
Anemia of chronic disease and defective erythropoietin production in patients with celiac disease. 54 61
18815191 2008
26
The role of oxidative stress in hemolytic anemia. 54 61
18991647 2008
27
The anemia of ageing is not associated with increased plasma hepcidin levels. 61 54
18676162 2008
28
Anemia and cerebral outcomes: many questions, fewer answers. 54 61
18806052 2008
29
Is obesity associated with anemia of chronic disease? A population-based study. 54 61
18719644 2008
30
Orally administrated Juzen-taiho-to/TJ-48 ameliorates erythropoietin (rHuEPO)-resistant anemia in patients on hemodialysis. 61 54
18837771 2008
31
Long-term treatment of anemia with recombinant human erythropoietin in familial amyloidosis TTR V30M. 61 54
18925459 2008
32
Association of anemia and erythropoiesis stimulating agents with inflammatory biomarkers in chronic kidney disease. 61 54
18547996 2008
33
Serum pro-hepcidin level and iron homeostasis in Japanese dialysis patients with erythropoietin (EPO)-resistant anemia. 54 61
18758412 2008
34
Relationship between inflammatory cytokines and cardiorenal anemia syndrome: treatment with recombinant human erythropoietin (rhepo). 61 54
18923748 2008
35
Anemia in monkey collagen-induced arthritis is correlated with serum IL-6, but not TNFalpha. 54 61
18309490 2008
36
[Anemia and lung cancer]. 61 54
18589288 2008
37
Anemia and iron status in young fertile non-professional female athletes. 61 54
18092176 2008
38
[Anemia in patients with cancer]. 54 61
18330028 2008
39
Anemia in chronic heart failure: etiology and treatment options. 61 54
18303527 2008
40
[Anemia and nutritional status of children in day-care centers in Guaxupé]. 61 54
18506326 2008
41
Role of Gas6 in erythropoiesis and anemia in mice. 54 61
18188450 2008
42
Evaluation of ischemia-modified albumin in anemia associated to chronic kidney disease. 61 54
18200583 2008
43
Cross-sectional study on the prevalence of anemia among rural elderly in Asan. 61 54
20126358 2008
44
[Physiopathologic aspects of anemia and thrombocytopenia in children with cancers: the roles of erythropoietin and thrombopoietin]. 61 54
18819233 2008
45
Anemia associated with pegylated interferon-alpha2a and alpha2b therapy in hemodialysis patients. 54 61
17598372 2007
46
Anemia in north of Iran (south-east of Caspian Sea). 54 61
19086521 2007
47
Anemia correction in malignancy management: threat or opportunity? 61 54
17367848 2007
48
Hepcidin antimicrobial peptide transgenic mice exhibit features of the anemia of inflammation. 54 61
17218383 2007
49
Prevalence and correlates of anemia and uncontrolled anemia in chronic hemodialysis patients--the Campania Dialysis Registry. 54 61
17520570 2007
50
Liver transplantation and anemia in familial amyloidosis ATTR V30M. 54 61
17453623 2007
Sources

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

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

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB , HBD , LOC106099062 , LOC106099063 , LOC107133510 , LOC110006319 HBD, HBD87/HBB116 FUSIONdeletion Pathogenic 15061 11:5247800-5255214 11:5226570-5233984
2 HBB NM_000518.5(HBB):c.79G>A (p.Glu27Lys)SNV Pathogenic 15161 rs33950507 11:5248173-5248173 11:5226943-5226943
3 HBA1 , HBA2 , LOC106804612 NM_000517.6(HBA2):c.410T>C (p.Leu137Pro)SNV Pathogenic 15655 rs41469945 16:223580-223580 16:173581-173581
4 GATA1 NM_002049.4(GATA1):c.220+1deldeletion Pathogenic 31942 rs587776453 X:48649736-48649736 X:48791329-48791329
5 GATA1 NM_002049.3(GATA1):c.2T>C (p.Met1Thr)SNV Pathogenic 156265 rs587776451 X:48649518-48649518 X:48791111-48791111
6 GATA1 NM_002049.3(GATA1):c.220G>C (p.Val74Leu)SNV Pathogenic 156266 rs587776452 X:48649736-48649736 X:48791329-48791329
7 FOXP3 NM_014009.3(FOXP3):c.1190G>A (p.Arg397Gln)SNV Pathogenic 379222 rs1057520529 X:49107901-49107901 X:49251440-49251440
8 TTR NM_000371.4(TTR):c.424G>A (p.Val142Ile)SNV Pathogenic/Likely pathogenic 13426 rs76992529 18:29178618-29178618 18:31598655-31598655
9 NRAS NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)SNV Likely pathogenic 812886 1:115256535-115256535 1:114713914-114713914
10 RPL11 NM_000975.5(RPL11):c.142_143dup (p.Val49fs)duplication Likely pathogenic 812883 1:24019231-24019232 1:23692741-23692742
11 GATA1 NM_002049.4(GATA1):c.680C>T (p.Ala227Val)SNV Likely pathogenic 812972 X:48650811-48650811 X:48792404-48792404
12 SPTA1 NM_003126.4(SPTA1):c.2464+1G>ASNV Likely pathogenic 812890 1:158632491-158632491 1:158662701-158662701
13 RPS26 NM_001029.5(RPS26):c.312+2T>ASNV Likely pathogenic 812897 12:56437279-56437279 12:56043495-56043495
14 subset of 172 genes: ARCN1 , HMBS , KMT2A deletion Likely pathogenic 812956 11:114433313-131230466
15 MT-ATP8 NC_012920.1:m.8570T>CSNV Likely pathogenic 869162 MT:8570-8570 MT:8570-8570
16 46;XX;t(4;14)(p15.2;q13)dnTranslocation Likely pathogenic 267892
17 GATA1 NM_002049.3(GATA1):c.94G>A (p.Val32Ile)SNV Conflicting interpretations of pathogenicity 465135 rs782698349 X:48649610-48649610 X:48791203-48791203
18 GATA2 NM_001145661.2(GATA2):c.971A>G (p.Lys324Arg)SNV Uncertain significance 523417 rs1480450110 3:128202749-128202749 3:128483906-128483906
19 ANK1 NM_000037.4(ANK1):c.1948A>G (p.Met650Val)SNV Uncertain significance 373944 rs1057518790 8:41566346-41566346 8:41708828-41708828
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Expression for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

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

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Pathways related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.64 HP HBB HBA2 ALB
2
HIF-1-alpha transcription factor network 1
11.45 TFRC TF EPO
3
Malaria 36
11.31 HBB HBA2 CSF3
4
Differentiation Pathway 1
11.26 TF IL3 EPO
5
FOXA2 and FOXA3 transcription factor networks 1
11.19 TTR TFRC ALB
6
Hematopoietic Stem Cell Differentiation 1
11.14 IL3 GATA1 EPO CSF3
7
Hematopoietic cell lineage 36
11.02 TFRC IL3 EPOR EPO CSF3
8
Iron metabolism in placenta 1
10.51 TFRC TF HAMP
9
Hfe effect on hepcidin production 1
9.98 HJV HFE HAMP
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GO Terms for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

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Cellular components related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.1 TTR TFRC TF RPS19 HP HBB
2 extracellular region GO:0005576 10.07 TTR TFRC TF IL3 HP HBB
3 blood microparticle GO:0072562 9.63 TFRC TF HP HBB HBA2 ALB
4 endocytic vesicle lumen GO:0071682 9.54 HP HBB HBA2
5 haptoglobin-hemoglobin complex GO:0031838 9.5 HP HBB HBA2
6 extracellular space GO:0005615 9.5 TTR TFRC TF IL3 HP HJV
7 hemoglobin complex GO:0005833 9.43 HBB HBA2
8 HFE-transferrin receptor complex GO:1990712 9.26 TFRC TF HJV HFE

Biological processes related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 IL3 GATA1 CSF3
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.75 EPOR EPO CSF3
3 negative regulation of neuron death GO:1901215 9.72 GBA EPO CSF3
4 response to hydrogen peroxide GO:0042542 9.7 HP HBB HBA2
5 positive regulation of cell death GO:0010942 9.69 HP HBB HBA2
6 erythrocyte differentiation GO:0030218 9.65 RPS19 GATA1 EPO
7 transferrin transport GO:0033572 9.61 TFRC TF HFE
8 erythrocyte maturation GO:0043249 9.59 G6PD EPO
9 iron ion homeostasis GO:0055072 9.58 TF HJV HFE
10 response to dexamethasone GO:0071548 9.57 GBA EPO
11 multicellular organismal iron ion homeostasis GO:0060586 9.56 HFE HAMP
12 cellular oxidant detoxification GO:0098869 9.56 HP HBB HBA2 ALB
13 receptor-mediated endocytosis GO:0006898 9.55 TFRC HP HBB HBA2 ALB
14 cellular response to iron ion GO:0071281 9.54 TF HFE
15 negative regulation of T cell cytokine production GO:0002725 9.49 HFE FOXP3
16 erythropoietin-mediated signaling pathway GO:0038162 9.46 EPOR EPO
17 response to iron ion starvation GO:1990641 9.37 HFE HAMP
18 cellular iron ion homeostasis GO:0006879 9.35 TFRC TF HJV HFE HAMP
19 regulation of iron ion transport GO:0034756 9.32 TF HFE
20 acute-phase response GO:0006953 9.02 HP HFE HAMP EPO CRP

Molecular functions related to Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.76 TTR TFRC RPS19 G6PD FOXP3 EPOR
2 oxygen carrier activity GO:0005344 9.4 HBB HBA2
3 organic acid binding GO:0043177 9.37 HBB HBA2
4 haptoglobin binding GO:0031720 9.32 HBB HBA2
5 hemoglobin binding GO:0030492 9.26 HP HBB
6 oxygen binding GO:0019825 9.13 HBB HBA2 ALB
7 transferrin receptor binding GO:1990459 8.8 TF HJV HFE
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Sources for Anemia, X-Linked, with or Without Neutropenia and/or Platelet...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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