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 43 71
Anemia Macrocytic 12 54
Macrocytic Anaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2361
MeSH 43 D000748
NCIt 49 C34381
SNOMED-CT 67 83414005
UMLS 71 C0002886

Summaries for Macrocytic Anemia

MalaCards based summary : Macrocytic Anemia, also known as anemia, macrocytic, is related to chromosome 5q deletion syndrome and diamond-blackfan anemia 1. 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 : 74 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 158)
# Related Disease Score Top Affiliating Genes
1 chromosome 5q deletion syndrome 34.0 RPS28 RPS14
2 diamond-blackfan anemia 1 32.7 RPS19 RPL5
3 diamond-blackfan anemia 15 with mandibulofacial dysostosis 32.1 TSR2 RPS28 RPS26
4 pure red-cell aplasia 30.4 RPS19 RPS17
5 diamond-blackfan anemia 27.7 TSR2 RPS29 RPS28 RPS27 RPS26 RPS24
6 combined oxidative phosphorylation deficiency 18 11.7
7 megaloblastic anemia 11.6
8 microcytic anemia 11.6
9 anemia, congenital dyserythropoietic, type ia 11.5
10 diamond-blackfan anemia 3 11.4
11 diamond-blackfan anemia 4 11.4
12 diamond-blackfan anemia 5 11.4
13 diamond-blackfan anemia 6 11.4
14 diamond-blackfan anemia 7 11.4
15 diamond-blackfan anemia 8 11.4
16 diamond-blackfan anemia 9 11.4
17 diamond-blackfan anemia 10 11.4
18 diamond-blackfan anemia 11 11.4
19 diamond-blackfan anemia 12 11.4
20 anemia, congenital dyserythropoietic, type ib 11.4
21 anemia, congenital dyserythropoietic, type iii 11.2
22 overhydrated hereditary stomatocytosis 11.2
23 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.2
24 diamond-blackfan anemia 2 11.2
25 diamond-blackfan anemia 13 11.2
26 diamond-blackfan anemia 16 11.2
27 diamond-blackfan anemia 17 11.2
28 diamond-blackfan anemia 18 11.2
29 diamond-blackfan anemia 19 11.2
30 diamond-blackfan anemia 20 11.2
31 deficiency anemia 11.1
32 pernicious anemia 10.7
33 myelodysplastic syndrome 10.5
34 vitamin b12 deficiency 10.5
35 hypothyroidism 10.4
36 iron metabolism disease 10.4
37 liver disease 10.4
38 thrombocytopenia 10.3
39 hemolytic anemia 10.3
40 bowen-conradi syndrome 10.3 RPS19 RPL11
41 rheumatoid arthritis 10.3
42 arthritis 10.3
43 alcohol dependence 10.3
44 acute leukemia 10.3
45 thrombocytosis 10.3
46 gastritis 10.3
47 tropical sprue 10.2
48 acute erythroid leukemia 10.2
49 amegakaryocytic thrombocytopenia, congenital 10.2 RPS19 RPS17
50 myeloma, multiple 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 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 11.1 RPL5 RPS14 RPS17 RPS19 RPS29
2 Decreased viability GR00240-S-1 11.1 RPL15 RPL26 RPS14 RPS28
3 Decreased viability GR00381-A-1 11.1 C15orf41 RPL11 RPL15 RPL27 RPL35A RPS14
4 Decreased viability GR00402-S-2 11.1 ALAS2 C15orf41 RPL11 RPL15 RPL26 RPL27
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.52 RPS19
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.52 RPS29
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.52 RPS17
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.52 RPS17
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.52 RPS17 RPS19 RPS29
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.52 RPS29
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.52 RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.52 RPS29
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.52 RPS17 RPS19 RPS29
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.52 RPS19
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.52 RPS17
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.52 RPS17 RPS19
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.52 RPS17
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.52 RPS17
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.52 RPS17
20 Decreased NF-kappaB reporter expression GR00312-A 10.41 ALAS2 RPL11 RPL15 RPL26 RPL27 RPL35A
21 Increased vaccinia virus (VACV) infection GR00249-S 10.38 ALAS2 C15orf41 RPL11 RPL15 RPL26 RPL27
22 no effect GR00402-S-1 10.26 ALAS2 C15orf41 RPL11 RPL15 RPL26 RPL27
23 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 10.25 ALAS2 RPL11 RPL15 RPL26 RPL27 RPL35A
24 Increased viability GR00386-A-1 10.24 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
25 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 10.15 RPL11 RPL15 RPL35A RPL5 RPS10 RPS14
26 Decreased Hepatitis C virus replication GR00180-A-1 10.02 RPS14 RPS19 RPS24 RPS26 RPS28 RPS29
27 G0/1 arrest GR00098-A-2 10.02 RPL11 RPL27 RPL35A RPS19 RPS24 RPS26
28 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.92 RPL11 RPL15 RPL27 RPL35A RPS17 RPS19
29 Decreased cell number GR00303-A 9.86 RPL11 RPL5 RPS19 RPS29
30 Nuclear 40S maturation defects GR00209-A-2 9.7 RPL11 RPS10 RPS14 RPS17 RPS26 RPS28
31 HIV Rev nuclear localization GR00247-A-3 9.63 RPL11 RPL15 RPS24
32 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.44 RPL11 RPL26 RPL27 RPL35A RPL5 RPS10
33 Nuclear 60S biogenesis defects GR00209-A-3 9.35 RPL11 RPL26 RPL27 RPL35A RPL5

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:

40
Liver, Bone, Bone Marrow, Testes, Small Intestine, T Cells, Myeloid

Publications for Macrocytic Anemia

Articles related to Macrocytic Anemia:

(show top 50) (show all 748)
# Title Authors PMID Year
1
Ribosomopathies: human disorders of ribosome dysfunction. 54 61
20194897 2010
2
Combined megaloblastic and immunohemolytic anemia associated--a case report. 54 61
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. 54 61
16531079 2006
4
Impact of HLA-H mutations on iron stores in healthy elderly men and women. 54 61
9410471 1997
5
The molecular basis of the sideroblastic anemias. 54 61
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. 54 61
1714329 1991
7
Screening for Anemia in Children with Down Syndrome. 61
31593027 2020
8
Profile of anemia in acute lymphoblastic leukemia patients on maintenance therapy and the effect of micronutrient supplementation. 61
31134344 2020
9
Anemia, hematinic deficiencies, and gastric parietal cell antibody positivity in atrophic glossitis patients with or without hyperhomocysteinemia. 61
31444017 2020
10
Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid. 61
31371121 2020
11
Prevalence of anemia and its relationship with neurological status in patients undergoing surgery for degenerative cervical myelopathy and radiculopathy: A retrospective study of 2 spine centers. 61
31911107 2020
12
P2X1 ion channel deficiency causes massive bleeding in inflamed intestine and increases thrombosis. 61
31448510 2020
13
Factors affecting occurrence of demodecosis by Demodex bovis in Sindhi cattle (Bos indicus). 61
31975182 2020
14
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia. 61
31844630 2019
15
Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis with Cooccurrent SF3B1 and MPL Gene Mutations: A Case Report and Brief Review of the Literature. 61
31858134 2019
16
Severe Cobalamin Deficiency Disguised as Schistocytes: A Case Report. 61
31734686 2019
17
Crude extract of cyanobacterium Radiocystis fernandoi strain R28 induces anemia and oxidative stress in fish erythrocytes. 61
31421159 2019
18
Noncommunicable Diseases Burden and Risk Factors in a Cohort of HIV+ Elderly Patients in Malawi. 61
31468993 2019
19
The doctor who stared at schistocytes: an intriguing case of suspected thrombotic microangiopathic anemia. 61
31667698 2019
20
Does aging have an impact on hemoglobin? Study in elderly population at rural teaching hospital. 61
31742166 2019
21
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with vitamin B12 deficiency. 61
31630933 2019
22
Anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in 884 patients with burning mouth syndrome. 61
31679908 2019
23
TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. 61
31350873 2019
24
Laurence-Moon-Bardet-Biedl Syndrome: A Case Report. 61
31696011 2019
25
MMP9 inhibition increases erythropoiesis in RPS14-deficient del(5q) MDS models through suppression of TGF-β pathways. 61
31540902 2019
26
Bone marrow adipose tissue-derived stem cell factor mediates metabolic regulation of hematopoiesis. 61
30792196 2019
27
The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGFβ signaling in zebrafish. 61
31300417 2019
28
Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency. 61
31059822 2019
29
Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient. 61
31277601 2019
30
ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome. 61
31361176 2019
31
NUP98-HBO1-fusion generates phenotypically and genetically relevant chronic myelomonocytic leukemia pathogenesis. 61
30944097 2019
32
Roles of folate in skeletal muscle cell development and functions. 61
30599056 2019
33
A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment. 61
30933022 2019
34
Evolution of Anemia Types During Antiretroviral Therapy-Implications for Treatment Outcomes and Quality of Life Among HIV-Infected Adults. 61
30935133 2019
35
Patterns of geriatric anemia: A hospital-based observational study in North India. 61
31041236 2019
36
Recognizing missed opportunities to diagnose and treat iron deficiency anemia: A study based on prevalence of anemia among children in a teaching hospital. 61
31041221 2019
37
A Case of Cobalamin Deficiency and Macrocytic Anemia Secondary to Sunitinib. 61
31183290 2019
38
A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia. 61
30803555 2019
39
[Etiologyical Analysis of 133 Patients with Elderly Macrocytic Anemia and Diagnostic Significance of Laboratory Tests]. 61
30738471 2019
40
Macrocytic anemia in Lesch-Nyhan disease and its variants. 61
29875418 2019
41
Benign Granular Cell Tumor of the Cecum. 61
31019852 2019
42
Mean Corpuscular Volume and Mortality in Incident Hemodialysis Patients. 61
30625478 2019
43
Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report. 61
30691194 2019
44
Acquired platelet dysfunction and overproduction of platelet cyclic AMP in two patients with myeloid malignancies. 61
31240986 2019
45
[Concurrent CALR and SF3B1 gene mutations in a patient with myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis]. 61
31484889 2019
46
Prevalence, Morphological Classification, And Factors Associated With Anemia Among Pregnant Women Accessing Antenatal Clinic At Itojo Hospital, South Western Uganda. 61
31695541 2019
47
A Case of Pregnancy Complicated with Evans Syndrome with Sequential Development of Autoimmune Warm Antibody Hemolytic Anemia and Idiopathic Thrombocytopenic Purpura. 61
30733882 2019
48
Subacute Combined Degeneration, Pernicious Anemia and Gastric Neuroendocrine Tumor Occured Simultaneously Caused by Autoimmune Gastritis. 61
30740042 2019
49
Long-Term Outcomes in Patients with Anemia And Cerebral Venous Thrombosis. 61
29987689 2018
50
Significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in atrophic glossitis patients. 61
30087017 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
14.01 TCN2 RPS29 RPS28 RPS27 RPS26 RPS24
2
Show member pathways
13.71 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
3
Show member pathways
13.67 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
4
Show member pathways
13.6 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
5
Show member pathways
13.43 TCN2 RPS29 RPS28 RPS27 RPS26 RPS24
6
Show member pathways
12.63 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
7
Show member pathways
12.29 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
8
Show member pathways
12.14 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19

GO Terms for Macrocytic Anemia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.35 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
2 nucleoplasm GO:0005654 10.29 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
3 extracellular exosome GO:0070062 10.19 RPS29 RPS28 RPS26 RPS19 RPS14 RPL5
4 nucleolus GO:0005730 10 RPS19 RPS14 RPS10 RPL5 RPL26 RPL11
5 focal adhesion GO:0005925 9.98 RPS29 RPS19 RPS17 RPS14 RPS10 RPL5
6 intracellular GO:0005622 9.97 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
7 rough endoplasmic reticulum GO:0005791 9.76 RPS29 RPS28 RPS26 RPL27
8 cytosolic large ribosomal subunit GO:0022625 9.73 RPL5 RPL35A RPL27 RPL26 RPL15 RPL11
9 ribonucleoprotein complex GO:1990904 9.71 RPL5 RPL27 RPL26
10 polysomal ribosome GO:0042788 9.71 RPS29 RPS28 RPS26 RPL11
11 small ribosomal subunit GO:0015935 9.67 RPS29 RPS28 RPS26 RPS24
12 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.62 RPS29 RPS28 RPS26 RPL27
13 cytosolic small ribosomal subunit GO:0022627 9.61 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
14 ribosome GO:0005840 9.5 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 viral transcription GO:0019083 10.2 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
2 rRNA processing GO:0006364 10.15 TSR2 RPS28 RPS27 RPS24 RPS19 RPS17
3 SRP-dependent cotranslational protein targeting to membrane GO:0006614 10.13 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
4 translational initiation GO:0006413 10.03 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
5 cytoplasmic translation GO:0002181 9.95 RPS29 RPS28 RPS26 RPL35A RPL26 RPL15
6 ribosomal small subunit assembly GO:0000028 9.83 RPS28 RPS27 RPS19 RPS14 RPS10
7 translation GO:0006412 9.83 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
8 erythrocyte differentiation GO:0030218 9.8 RPS19 RPS14 C15orf41 ALAS2
9 ribosomal large subunit biogenesis GO:0042273 9.78 RPL5 RPL35A RPL26 RPL11
10 ribosomal small subunit biogenesis GO:0042274 9.76 RPS28 RPS24 RPS19 RPS17
11 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.7 TSR2 RPS19 RPS14
12 maturation of SSU-rRNA GO:0030490 9.69 RPS28 RPS19 RPS14
13 ribosomal large subunit assembly GO:0000027 9.58 RPL5 RPL11
14 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.57 RPL5 RPL11
15 erythrocyte homeostasis GO:0034101 9.56 RPS24 RPS17
16 negative regulation of ubiquitin protein ligase activity GO:1904667 9.55 RPL5 RPL11
17 negative regulation of protein neddylation GO:2000435 9.54 RPL5 RPL11
18 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.5 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.83 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
2 structural constituent of ribosome GO:0003735 9.5 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
3 mRNA 5'-UTR binding GO:0048027 9.33 RPS14 RPL5 RPL26
4 5S rRNA binding GO:0008097 9.32 RPL5 RPL11
5 ubiquitin ligase inhibitor activity GO:1990948 9.26 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 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
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