MCID: MCR017
MIFTS: 44

Macrocytic Anemia

Categories: Blood diseases
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Aliases & Classifications for Macrocytic Anemia

MalaCards integrated aliases for Macrocytic Anemia:

Name: Macrocytic Anemia 11 28 5 14 75
Anemia, Macrocytic 43 71
Anemia Macrocytic 11 53
Macrocytic Anaemia 11

Classifications:



External Ids:

Disease Ontology 11 DOID:2361
MeSH 43 D000748
NCIt 49 C34381
SNOMED-CT 68 83414005
UMLS 71 C0002886

Summaries for Macrocytic Anemia

MalaCards based summary: Macrocytic Anemia, also known as anemia, macrocytic, is related to diamond-blackfan anemia 10 and anemia, congenital dyserythropoietic, type ib. An important gene associated with Macrocytic Anemia is SFXN4 (Sideroflexin 4), and among its related pathways/superpathways are Metabolism of proteins and Metabolism. The drugs Levoleucovorin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and small intestine, and related phenotypes are Decreased viability and Increased shRNA abundance (Z-score > 2)

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 181)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 10 32.2 TSR2 RPS26
2 anemia, congenital dyserythropoietic, type ib 32.1 CDIN1 CDAN1
3 diamond-blackfan anemia 15 with mandibulofacial dysostosis 32.0 TSR2 RPS26
4 anemia, congenital dyserythropoietic, type iiia 31.9 CDIN1 CDAN1
5 diamond-blackfan anemia 1 31.6 RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
6 deficiency anemia 31.3 TCN2 RPS26 RPS19 RPL11 CDAN1 ALAS2
7 diamond-blackfan anemia 29.9 TSR2 TERT RPS29 RPS27 RPS26 RPS24
8 pure red-cell aplasia 29.9 RPS26 RPS24 RPS19 RPS17 RPL5 RPL35A
9 aplastic anemia 29.3 TSR2 TERT RPS26 RPS24 RPS19 RPS17
10 chromosome 5q deletion syndrome 11.8
11 anemia, congenital dyserythropoietic, type ia 11.4
12 combined oxidative phosphorylation deficiency 18 11.3
13 diamond-blackfan anemia 3 11.3
14 megaloblastic anemia 11.3
15 diamond-blackfan anemia 2 11.2
16 diamond-blackfan anemia 4 11.2
17 diamond-blackfan anemia 5 11.2
18 diamond-blackfan anemia 6 11.2
19 diamond-blackfan anemia 7 11.2
20 diamond-blackfan anemia 8 11.2
21 diamond-blackfan anemia 9 11.2
22 diamond-blackfan anemia 11 11.2
23 diamond-blackfan anemia 12 11.2
24 microcytic anemia 11.1
25 overhydrated hereditary stomatocytosis 11.1
26 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.1
27 vexas syndrome 11.1
28 mitochondrial complex iii deficiency, nuclear type 4 11.1
29 diamond-blackfan anemia 13 11.1
30 diamond-blackfan anemia 16 11.1
31 diamond-blackfan anemia 17 11.1
32 diamond-blackfan anemia 18 11.1
33 diamond-blackfan anemia 19 11.1
34 diamond-blackfan anemia 20 11.1
35 pernicious anemia 10.6
36 vitamin b12 deficiency 10.5
37 myelodysplastic syndrome 10.4
38 celiac disease 1 10.4
39 iron metabolism disease 10.4
40 hypothyroidism 10.3
41 alcohol dependence 10.3
42 alcohol use disorder 10.3
43 hemolytic anemia 10.3
44 thrombocytosis 10.2
45 gastritis 10.2
46 liver cirrhosis 10.2
47 bowen-conradi syndrome 10.2 RPS19 RPL5 RPL11
48 pierre robin syndrome 10.2 RPL26 RPL15 RPL11
49 cartilage-hair hypoplasia 10.2 RPS24 RPS19 RPL5 RPL11
50 acute erythroid leukemia 10.2

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:

25 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.79 RPL5 RPS17 RPS19 RPS29
2 Decreased viability GR00240-S-1 10.79 RPL15
3 Decreased viability GR00249-S 10.79 RPS17 RPS19 RPS29 RPL11 RPL27 RPL35A
4 Decreased viability GR00381-A-1 10.79 RPS19 CDAN1 CDIN1 RPL11 RPL15 RPL27
5 Decreased viability GR00386-A-1 10.79 RPL5 RPS17 RPS19 RPS29 RPL11 RPL15
6 Decreased viability GR00402-S-2 10.79 RPL5 RPS17 RPS19 RPS29 CDIN1 RPL11
7 Increased shRNA abundance (Z-score > 2) GR00366-A-1 10.07 RPS19
8 Increased shRNA abundance (Z-score > 2) GR00366-A-109 10.07 RPS29
9 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.07 RPS29
10 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.07 RPS17 RPS19 RPS29
11 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10.07 RPS29
12 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.07 RPS29
13 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.07 RPS19
14 Increased shRNA abundance (Z-score > 2) GR00366-A-160 10.07 RPS29
15 Increased shRNA abundance (Z-score > 2) GR00366-A-167 10.07 RPS19 RPS29
16 Increased shRNA abundance (Z-score > 2) GR00366-A-179 10.07 RPS19
17 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.07 RPS19 RPS29
18 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.07 RPS29
19 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.07 RPS29
20 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10.07 RPS19
21 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.07 RPS17
22 Increased shRNA abundance (Z-score > 2) GR00366-A-209 10.07 RPS17 RPS19
23 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10.07 RPS17
24 Increased shRNA abundance (Z-score > 2) GR00366-A-213 10.07 RPS17
25 Increased shRNA abundance (Z-score > 2) GR00366-A-68 10.07 RPS17
26 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.07 RPS29
27 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10.07 RPS17
28 no effect GR00402-S-1 10.04 ALAS2 CDAN1 CDIN1 RPL11 RPL15 RPL26
29 no effect GR00402-S-2 10.04 ALAS2 CDAN1 RPS27 SFXN4 TCN2 TERT
30 S arrest GR00098-A-2 10 RPL11 RPL27 RPL35A RPS19 RPS24 RPS26
31 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.86 RPL11 RPL15 RPL27 RPL35A RPS17 RPS19
32 Nuclear 60S biogenesis defects GR00209-A-3 9.77 RPL11 RPL26 RPL27 RPL35A RPL5
33 HIV Rev nuclear localization GR00247-A-3 9.5 RPL11 RPL15 RPS24
34 Decreased cell number GR00303-A 9.46 RPL11 RPL5 RPS19 RPS29
35 Nuclear 40S maturation defects GR00209-A-2 9.1 RPL11

Drugs & Therapeutics for Macrocytic Anemia

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
3 Folate Phase 2
4 Vitamins Phase 2
5 Vitamin B9 Phase 2
6 Trace Elements Phase 2
7 Vitamin B Complex Phase 2
8 Micronutrients Phase 2
9 Antidotes Phase 2
10 Protective Agents Phase 2
11
Neostigmine Approved, Vet_approved 59-99-4 4456 5824
12
Ethanol Approved 64-17-5 702
13
Glycopyrronium Approved, Investigational, Vet_approved 596-51-0, 740028-90-4 3494
14
Mecobalamin Approved, Investigational 13422-55-4
15
Hydroxocobalamin Approved 13422-51-0 15589840 44475014
16
Cyanocobalamin Approved, Nutraceutical 68-19-9 24892734 16212801 44176380
17
Cobalamin Experimental 13408-78-1 6857388
18 Vitamin B12
19 Vitamin B 12
20 Pharmaceutical Solutions
21 Hematinics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Experimental Treatment of Transfusion Dependent 5q Minus Syndrome With Leucovorin Completed NCT00004997 Phase 2 Leucovorin
2 Novel Skin Preparation Approaches for Transdermal Delivery by Iontophoresis of a Low Molecular Weight, Positively Charged Compound (Vitamin B12) to the Systemic Circulation Completed NCT04027959

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 28

Anatomical Context for Macrocytic Anemia

Organs/tissues related to Macrocytic Anemia:

MalaCards : Bone Marrow, Skin, Small Intestine, Liver, Bone, Myeloid, Spinal Cord

Publications for Macrocytic Anemia

Articles related to Macrocytic Anemia:

(show top 50) (show all 1141)
# Title Authors PMID Year
1
Ribosomopathies: human disorders of ribosome dysfunction. 53 62
20194897 2010
2
Combined megaloblastic and immunohemolytic anemia associated--a case report. 53 62
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. 53 62
16531079 2006
4
Impact of HLA-H mutations on iron stores in healthy elderly men and women. 53 62
9410471 1997
5
The molecular basis of the sideroblastic anemias. 53 62
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. 53 62
1714329 1991
7
Risk factors and prognostic significance of anemia in children with HIV infection on antiretroviral therapy. 62
36052537 2022
8
Animal models of Diamond-Blackfan anemia: updates and challenges. 62
36384250 2022
9
A cross-sectional clinical study in women to investigate possible genotoxicity and hematological abnormalities related to the use of black cohosh botanical dietary supplements. 62
36323641 2022
10
Paradigm shift in monogenic autoinflammatory diseases and systemic vasculitis: The VEXAS syndrome. 62
36049972 2022
11
Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2. 62
35441393 2022
12
Gata1s mutant mice display persistent defects in the erythroid lineage. 62
36350717 2022
13
[VEXAS gene variants explain previously unrecognized clinical syndrome]. 62
36205150 2022
14
Diagnosis, Treatment and Prevention of Nutritional Anemia in Children: Recommendations of the Joint Committee of Pediatric Hematology-Oncology Chapter and Pediatric and Adolescent Nutrition Society of the Indian Academy of Pediatrics. 62
36263494 2022
15
A Case of Recurrent Myocarditis after COVID-19 Vaccination due to Acute Myeloid Leukemia. 62
36249914 2022
16
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities. 62
35680490 2022
17
Mitochondrial electron transport chain complex II dysfunction causes premature aging of hematopoietic stem cells. 62
36219686 2022
18
Low Frequency of Folate and Vitamin B12 Deficiency in Patients with Marked Macrocytic Anemia. 62
35194742 2022
19
Parenteral vs Oral Vitamin B12 in Children With Nutritional Macrocytic Anemia: A Randomized Controlled Trial. 62
35642923 2022
20
Homocystinuria diagnosis and management: it is not all classical. 62
36123115 2022
21
Copper Deficiency Anemia Due to Low-Calorie, Blended Enteral Diet: Case Report. 62
36089206 2022
22
Acute Exacerbation of Anemia with Parvovirus B19 Infection One Year after Sleeve Gastrectomy for Severe Obesity. 62
35135915 2022
23
Magnitude and morphological types of anemia differ by age among under five children: A facility-based study. 62
36105468 2022
24
A rare combination of acute myeloid leukemia with Vit B12 deficiency: Case report. 62
36147083 2022
25
Break down the barriers of auto-inflammation: How to deal with a monogenic auto-inflammatory disease and immuno-haematological features in 2022? 62
36151885 2022
26
[Two cases of VEXAS syndrome]. 62
36082915 2022
27
A Case of Copper Deficiency in Wilson's Disease with a Normal Zinc Value. 62
36047117 2022
28
Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study. 62
35225327 2022
29
Blood cytology in children with down syndrome. 62
35778676 2022
30
Approach to Pancytopenia in a Deployed Service Member. 62
36425352 2022
31
Isolated psychiatric presentation of cobalamin C type disorder with novel mutation in middle childhood: A case report. 62
35500470 2022
32
Centrosome function is critical during terminal erythroid differentiation. 62
35678476 2022
33
Prevalence of anemia among reproductive-age females in the Tharu tribe of the Indo-Nepal border region. 62
36119223 2022
34
A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge. 62
35464742 2022
35
Clinical and hematological evaluation of geriatric anemia. 62
36119248 2022
36
[Vitamin B12 deficiency in an infant child of a mother with pernicious anemia]. 62
35857012 2022
37
Vomiting as a Presenting Symptom of Infantile Vitamin B12 Deficiency. 62
35733471 2022
38
Ablation of Tmcc2 Gene Impairs Erythropoiesis in Mice. 62
35563652 2022
39
[70/m-Hyperchromic, macrocytic anemia : Preparation for the medical specialist examination: part 131]. 62
35230466 2022
40
De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia. 62
35084091 2022
41
Paget's disease of bone and megaloblastic anemia in a 72-year-old patient: A case report and systematic literature review. 62
35251335 2022
42
Unstable hemoglobin Montreal II uncovered in an adult with unexplained hemolysis exacerbated by a presumed viral infection: a case report. 62
35397565 2022
43
Is There An Association Between Vitamin B12 Level and Vitamin D Status in Children? 62
35319507 2022
44
Hereditary myopathies associated with hematological abnormalities. 62
34985130 2022
45
A man in his sixties with chondritis and bone marrow failure. 62
35239266 2022
46
Macrocytic Anaemia: Not Always a Straightforward Diagnosis. 62
35444885 2022
47
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. 62
34625984 2022
48
A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis. 62
34864445 2022
49
Atypical Leber hereditary optic neuropathy with a 34-year interval between vision loss in both eyes. 62
35112015 2022
50
Clonal cytopenia of undetermined significance and atypical Behçet's: the importance of zinc. 62
35351745 2022

Variations for Macrocytic Anemia

ClinVar genetic disease variations for Macrocytic Anemia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TERT NM_198253.3(TERT):c.2812C>T (p.Arg938Trp) SNV Likely Pathogenic
916674 rs1422814635 GRCh37: 5:1264550-1264550
GRCh38: 5:1264435-1264435

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:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
2
Show member pathways
13.74 ALAS2 RPL11 RPL15 RPL26 RPL27 RPL35A
3
Show member pathways
13.71 TCN2 RPS29 RPS27 RPS26 RPS24 RPS19
4
Show member pathways
13.69 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5
Show member pathways
13.65 RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
6
Show member pathways
13.38 RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
7
Show member pathways
13.32 RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
8
Show member pathways
13.1 RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
9
Show member pathways
12.85 RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
10
Show member pathways
12.52 RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
11
Show member pathways
12.36 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
12
Show member pathways
12.25 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
13
Show member pathways
12.24 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
14 11.91 RPL5 RPL27 RPL26
15
Show member pathways
11.75 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27

GO Terms for Macrocytic Anemia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 10.23 RPS29 RPS19 RPS17 RPS10 RPL5 RPL27
2 ribosome GO:0005840 10.13 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3 cytosolic large ribosomal subunit GO:0022625 10.1 RPL5 RPL35A RPL27 RPL26 RPL15 RPL11
4 cytosolic small ribosomal subunit GO:0022627 10.1 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
5 synapse GO:0045202 10.04 RPS24 RPS17 RPL35A RPL27 RPL26 RPL15
6 polysomal ribosome GO:0042788 9.91 RPS29 RPS26 RPL11
7 ribonucleoprotein complex GO:1990904 9.89 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
8 small ribosomal subunit GO:0015935 9.88 RPS24 RPS26 RPS29
9 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.85 RPS29 RPS26 RPL27
10 cytosolic ribosome GO:0022626 9.66 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
11 rough endoplasmic reticulum GO:0005791 9.65 RPS29 RPS26 RPL27

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 10.13 RPL11 RPL26 RPL27 RPL35A RPL5 RPS17
2 cytoplasmic translation GO:0002181 10.07 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3 erythrocyte differentiation GO:0030218 9.88 RPS19 CDIN1 ALAS2
4 ribosomal large subunit biogenesis GO:0042273 9.86 RPL5 RPL35A RPL26 RPL11
5 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.8 RPL5 RPL11
6 ribosomal small subunit biogenesis GO:0042274 9.8 RPS24 RPS19 RPS17
7 ribosomal small subunit assembly GO:0000028 9.78 RPS27 RPS19
8 negative regulation of ubiquitin protein ligase activity GO:1904667 9.76 RPL5 RPL11
9 translation GO:0006412 9.74 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
10 erythrocyte homeostasis GO:0034101 9.73 RPS24 RPS17
11 negative regulation of protein neddylation GO:2000435 9.67 RPL11 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 10.09 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
2 structural constituent of ribosome GO:0003735 9.74 RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
3 5S rRNA binding GO:0008097 9.56 RPL5 RPL11
4 ubiquitin ligase inhibitor activity GO:1990948 9.46 RPL5 RPL11

Sources for Macrocytic Anemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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