MCID: MCR017
MIFTS: 41

Macrocytic Anemia

Categories: Blood diseases

Aliases & Classifications for Macrocytic Anemia

MalaCards integrated aliases for Macrocytic Anemia:

Name: Macrocytic Anemia 12 29 15
Anemia, Macrocytic 44 72
Anemia Macrocytic 12 55
Macrocytic Anaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2361
MeSH 44 D000748
NCIt 50 C34381
SNOMED-CT 68 83414005
UMLS 72 C0002886

Summaries for Macrocytic Anemia

MalaCards based summary : Macrocytic Anemia, also known as anemia, macrocytic, is related to diamond-blackfan anemia 1 and anemia, congenital dyserythropoietic, type ia. An important gene associated with Macrocytic Anemia is SFXN4 (Sideroflexin 4), and among its related pathways/superpathways are Metabolism and Gene Expression. The drugs Vitamins and Nutrients have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 75 The term macrocytic is from Greek words meaning "large cell". A macrocytic class of anemia is an anemia... more...

Related Diseases for Macrocytic Anemia

Diseases related to Macrocytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 32.5 RPS19 RPL5
2 anemia, congenital dyserythropoietic, type ia 31.6 CDAN1 C15orf41
3 aplastic anemia 29.6 RPS19 RPS17 RPL5
4 diamond-blackfan anemia 26.4 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
5 chromosome 5q deletion syndrome 12.5
6 combined oxidative phosphorylation deficiency 18 11.7
7 megaloblastic anemia 11.6
8 microcytic anemia 11.6
9 diamond-blackfan anemia 3 11.4
10 diamond-blackfan anemia 4 11.4
11 diamond-blackfan anemia 5 11.4
12 diamond-blackfan anemia 6 11.4
13 diamond-blackfan anemia 7 11.4
14 diamond-blackfan anemia 8 11.4
15 diamond-blackfan anemia 9 11.4
16 diamond-blackfan anemia 10 11.4
17 diamond-blackfan anemia 11 11.4
18 diamond-blackfan anemia 12 11.4
19 anemia, congenital dyserythropoietic, type ib 11.4
20 anemia, congenital dyserythropoietic, type iii 11.2
21 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.2
22 diamond-blackfan anemia 2 11.2
23 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.2
24 diamond-blackfan anemia 13 11.2
25 diamond-blackfan anemia 16 11.2
26 diamond-blackfan anemia 17 11.2
27 diamond-blackfan anemia 18 11.2
28 diamond-blackfan anemia 19 11.2
29 diamond-blackfan anemia 20 11.2
30 deficiency anemia 11.1
31 pernicious anemia 10.7
32 myelodysplastic syndrome 10.5
33 vitamin b12 deficiency 10.5
34 hypothyroidism 10.4
35 iron metabolism disease 10.4
36 liver disease 10.4
37 thrombocytopenia 10.3
38 hemolytic anemia 10.3
39 rheumatoid arthritis 10.3
40 arthritis 10.3
41 alcohol dependence 10.3
42 acute leukemia 10.3
43 thrombocytosis 10.3
44 gastritis 10.3
45 steatorrhea 10.2
46 tropical sprue 10.2
47 acute erythroid leukemia 10.2
48 myeloma, multiple 10.1
49 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
50 hydrops, lactic acidosis, and sideroblastic anemia 10.1

Graphical network of the top 20 diseases related to Macrocytic Anemia:



Diseases related to Macrocytic Anemia

Symptoms & Phenotypes for Macrocytic Anemia

GenomeRNAi Phenotypes related to Macrocytic Anemia according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.45 RPL5 RPS17 RPS19
2 Decreased viability GR00381-A-1 10.45 RPS19 C15orf41 CDAN1 RPL11 RPL35A RPS24
3 Decreased viability GR00402-S-2 10.45 RPL5 RPS17 RPS19 C15orf41 CDAN1 RPL11
4 Decreased cell number GR00098-A-1 10.43 RPL11 RPL5 RPS19 ALAS2 RPL26 RPL35A
5 Decreased cell number GR00303-A 10.43 RPL11 RPL5 RPS19
6 Decreased NF-kappaB reporter expression GR00312-A 10.13 ALAS2 RPL11 RPL26 RPL35A RPL5 RPS10
7 Increased viability GR00386-A-1 10.02 RPL11 RPL26 RPL35A RPL5 RPS10 RPS17
8 G0/1 arrest GR00098-A-2 9.77 RPL11 RPL35A RPS19 RPS24 RPS26
9 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.73 RPL11 RPL35A RPS17 RPS19 RPS26 SFXN4
10 Decreased Hepatitis C virus replication GR00180-A-1 9.63 RPS19 RPS24 RPS26
11 Nuclear 40S maturation defects GR00209-A-2 9.46 RPL11 RPS10 RPS17 RPS26
12 Nuclear 60S biogenesis defects GR00209-A-3 9.26 RPL11 RPL26 RPL35A RPL5
13 Nucleolar pre-40S maturation defects GR00209-A-1 9.23 RPL11 RPL26 RPL35A RPL5 RPS10 RPS17

Drugs & Therapeutics for Macrocytic Anemia

Drugs for Macrocytic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vitamins
2 Nutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of Nutritional Consequences of Sleeve Gastrectomy Unknown status NCT01475903

Search NIH Clinical Center for Macrocytic Anemia

Cochrane evidence based reviews: anemia, macrocytic

Genetic Tests for Macrocytic Anemia

Genetic tests related to Macrocytic Anemia:

# Genetic test Affiliating Genes
1 Macrocytic Anemia 29

Anatomical Context for Macrocytic Anemia

MalaCards organs/tissues related to Macrocytic Anemia:

41
Liver, Bone, Bone Marrow, Testes, Small Intestine, Myeloid, Heart

Publications for Macrocytic Anemia

Articles related to Macrocytic Anemia:

(show top 50) (show all 730)
# Title Authors PMID Year
1
Ribosomopathies: human disorders of ribosome dysfunction. 9 38
20194897 2010
2
Combined megaloblastic and immunohemolytic anemia associated--a case report. 9 38
19388472 2008
3
Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia. 9 38
16531079 2006
4
Impact of HLA-H mutations on iron stores in healthy elderly men and women. 9 38
9410471 1997
5
The molecular basis of the sideroblastic anemias. 9 38
9372069 1996
6
The effects on hematopoiesis of recombinant stem cell factor (ligand for c-kit) administered in vivo to mice either alone or in combination with granulocyte colony-stimulating factor. 9 38
1714329 1991
7
Crude extract of cyanobacterium Radiocystis fernandoi strain R28 induces anemia and oxidative stress in fish erythrocytes. 38
31421159 2019
8
TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. 38
31350873 2019
9
Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient. 38
31277601 2019
10
The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGFβ signaling in zebrafish. 38
31300417 2019
11
Acquired platelet dysfunction and overproduction of platelet cyclic AMP in two patients with myeloid malignancies. 38
31240986 2019
12
Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid. 38
31371121 2019
13
ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome. 38
31361176 2019
14
Profile of anemia in acute lymphoblastic leukemia patients on maintenance therapy and the effect of micronutrient supplementation. 38
31134344 2019
15
NUP98-HBO1-fusion generates phenotypically and genetically relevant chronic myelomonocytic leukemia pathogenesis. 38
30944097 2019
16
Roles of folate in skeletal muscle cell development and functions. 38
30599056 2019
17
A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment. 38
30933022 2019
18
Evolution of Anemia Types During Antiretroviral Therapy-Implications for Treatment Outcomes and Quality of Life Among HIV-Infected Adults. 38
30935133 2019
19
Patterns of geriatric anemia: A hospital-based observational study in North India. 38
31041236 2019
20
Recognizing missed opportunities to diagnose and treat iron deficiency anemia: A study based on prevalence of anemia among children in a teaching hospital. 38
31041221 2019
21
A Case of Cobalamin Deficiency and Macrocytic Anemia Secondary to Sunitinib. 38
31183290 2019
22
[Etiologyical Analysis of 133 Patients with Elderly Macrocytic Anemia and Diagnostic Significance of Laboratory Tests]. 38
30738471 2019
23
A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia. 38
30803555 2019
24
Macrocytic anemia in Lesch-Nyhan disease and its variants. 38
29875418 2019
25
Benign Granular Cell Tumor of the Cecum. 38
31019852 2019
26
Bone marrow adipose tissue-derived stem cell factor mediates metabolic regulation of hematopoiesis. 38
30792196 2019
27
Mean Corpuscular Volume and Mortality in Incident Hemodialysis Patients. 38
30625478 2019
28
Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report. 38
30691194 2019
29
A Case of Pregnancy Complicated with Evans Syndrome with Sequential Development of Autoimmune Warm Antibody Hemolytic Anemia and Idiopathic Thrombocytopenic Purpura. 38
30733882 2019
30
Subacute Combined Degeneration, Pernicious Anemia and Gastric Neuroendocrine Tumor Occured Simultaneously Caused by Autoimmune Gastritis. 38
30740042 2019
31
Long-Term Outcomes in Patients with Anemia And Cerebral Venous Thrombosis. 38
29987689 2018
32
Significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in atrophic glossitis patients. 38
30087017 2018
33
AA amyloidosis associated with morbid obesity (clinical case). 38
30527964 2018
34
Macrocytic anemia is associated with the severity of liver impairment in patients with hepatitis B virus-related decompensated cirrhosis: a retrospective cross-sectional study. 38
30384828 2018
35
Comprehensive Laboratory Analysis of Korean Acute Alcoholic Intoxication Patients Reveals the Need for a National Hepatitis B Virus Vaccination Program in Korea. 38
30369218 2018
36
SKI controls MDS-associated chronic TGF-β signaling, aberrant splicing, and stem cell fitness. 38
30249787 2018
37
Anemia in Older Adults. 38
30252420 2018
38
Correlation of Red Blood Cell Acetylcholinesterase Enzyme Activity with Various RBC Indices. 38
30319191 2018
39
Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet. 38
30124850 2018
40
Impaired hematopoiesis and leukemia development in mice with a conditional knock-in allele of a mutant splicing factor gene U2af1. 38
30322915 2018
41
Significantly higher frequencies of hemoglobin, iron, vitamin B12, and folic acid deficiencies and of hyperhomocysteinemia in patients with Behcet's disease. 38
29716764 2018
42
Hemolytic Anemia: Evaluation and Differential Diagnosis. 38
30215915 2018
43
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations. 38
29599085 2018
44
Thoracic and paraspinal extramedullary hematopoiesis in a cat with chronic non-regenerative anemia. 38
30245843 2018
45
[Surgical treatment of an auto-immune hemolytic anemia]. 38
29650300 2018
46
Black cohosh extracts and powders induce micronuclei, a biomarker of genetic damage, in human cells. 38
29668046 2018
47
[Mean Corpuscular Volume Can Be A Predictor for Therapeutic Response of Patients with Chronic Myeloid Leukemia]. 38
29665902 2018
48
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. 38
29494340 2018
49
Thrombotic Microangiopathy-Like Hemolysis in Vitamin B12 Deficiency-Related Macrocytic Anemia. 38
29739088 2018
50
Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature. 38
29286581 2018

Variations for Macrocytic Anemia

Expression for Macrocytic Anemia

Search GEO for disease gene expression data for Macrocytic Anemia.

Pathways for Macrocytic Anemia

Pathways related to Macrocytic Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 TCN2 RPS26 RPS24 RPS19 RPS17 RPS10
2
Show member pathways
13.52 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
3
Show member pathways
13.48 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
4
Show member pathways
13.42 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
5
Show member pathways
13.22 TCN2 RPS26 RPS24 RPS19 RPS17 RPS10
6
Show member pathways
12.41 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
7
Show member pathways
12.03 RPS26 RPS24 RPS19 RPS17 RPS10
8 11.92 RPL5 RPL26 RPL11
9
Show member pathways
11.92 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5

GO Terms for Macrocytic Anemia

Cellular components related to Macrocytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 9.86 RPS26 RPS24 RPS19 RPS17 RPL5 RPL35A
2 focal adhesion GO:0005925 9.67 RPS19 RPS17 RPS10 RPL5
3 polysomal ribosome GO:0042788 9.46 RPS26 RPL11
4 cytosolic large ribosomal subunit GO:0022625 9.46 RPL5 RPL35A RPL26 RPL11
5 small ribosomal subunit GO:0015935 9.43 RPS26 RPS24
6 cytosolic small ribosomal subunit GO:0022627 9.35 RPS26 RPS24 RPS19 RPS17 RPS10
7 ribosome GO:0005840 9.28 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
8 membrane GO:0016020 10.22 SFXN4 RPS26 RPS24 RPS19 RPS17 RPS10
9 cytosol GO:0005829 10.02 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
10 nucleoplasm GO:0005654 10.01 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5

Biological processes related to Macrocytic Anemia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.91 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
2 rRNA processing GO:0006364 9.87 RPS24 RPS19 RPS17 RPL5 RPL35A RPL26
3 translational initiation GO:0006413 9.81 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
4 cytoplasmic translation GO:0002181 9.71 RPS26 RPL35A RPL26 RPL11
5 ribosomal large subunit biogenesis GO:0042273 9.67 RPL5 RPL35A RPL26 RPL11
6 ribosomal small subunit biogenesis GO:0042274 9.61 RPS24 RPS19 RPS17
7 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.61 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
8 erythrocyte differentiation GO:0030218 9.55 RPS19 ALAS2
9 ribosomal large subunit assembly GO:0000027 9.54 RPL5 RPL11
10 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.52 RPL5 RPL11
11 ribosomal small subunit assembly GO:0000028 9.51 RPS19 RPS10
12 erythrocyte homeostasis GO:0034101 9.49 RPS24 RPS17
13 negative regulation of ubiquitin protein ligase activity GO:1904667 9.48 RPL5 RPL11
14 negative regulation of protein neddylation GO:2000435 9.46 RPL5 RPL11
15 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.28 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5

Molecular functions related to Macrocytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.61 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
2 rRNA binding GO:0019843 9.37 RPL5 RPL11
3 mRNA 5'-UTR binding GO:0048027 9.32 RPL5 RPL26
4 structural constituent of ribosome GO:0003735 9.28 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
5 5S rRNA binding GO:0008097 9.26 RPL5 RPL11
6 ubiquitin ligase inhibitor activity GO:1990948 9.16 RPL5 RPL11

Sources for Macrocytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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