MCID: MCR017
MIFTS: 44

Macrocytic Anemia

Categories: Blood diseases

Aliases & Classifications for Macrocytic Anemia

MalaCards integrated aliases for Macrocytic Anemia:

Name: Macrocytic Anemia 12 28 14
Anemia, Macrocytic 41 69
Anemia Macrocytic 12 51
Macrocytic Anaemia of Unspecified Cause 12
Macrocytic Anemia of Unspecified Cause 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2361
MeSH 41 D000748
NCIt 46 C34381
UMLS 69 C0002886

Summaries for Macrocytic Anemia

MalaCards based summary : Macrocytic Anemia, also known as anemia, macrocytic, is related to diamond-blackfan anemia 1 and diamond-blackfan anemia 15 with mandibulofacial dysostosis. An important gene associated with Macrocytic Anemia is SFXN4 (Sideroflexin 4), and among its related pathways/superpathways are Metabolism and Gene Expression. Affiliated tissues include liver, small intestine and bone marrow, and related phenotypes are Decreased NF-kappaB reporter expression and Decreased viability

Wikipedia : 72 The term macrocytic is from Greek words meaning \"large cell\". A macrocytic class of anemia is an... 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 66)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 31.7 RPL5 RPS19
2 diamond-blackfan anemia 15 with mandibulofacial dysostosis 31.1 RPS26 RPS28 TSR2
3 diamond-blackfan anemia 25.3 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4 chromosome 5q deletion syndrome 12.2
5 megaloblastic anemia 11.3
6 anemia, congenital dyserythropoietic, type ia 11.1
7 diamond-blackfan anemia 3 11.1
8 diamond-blackfan anemia 4 11.1
9 diamond-blackfan anemia 5 11.1
10 diamond-blackfan anemia 6 11.1
11 diamond-blackfan anemia 7 11.1
12 diamond-blackfan anemia 8 11.1
13 diamond-blackfan anemia 9 11.1
14 diamond-blackfan anemia 10 11.1
15 diamond-blackfan anemia 11 11.1
16 diamond-blackfan anemia 12 11.1
17 combined oxidative phosphorylation deficiency 18 11.1
18 anemia, congenital dyserythropoietic, type ib 11.1
19 anemia, congenital dyserythropoietic, type iii 10.9
20 diamond-blackfan anemia 14 with mandibulofacial dysostosis 10.9
21 diamond-blackfan anemia 2 10.9
22 diamond-blackfan anemia 13 10.9
23 diamond-blackfan anemia 16 10.9
24 diamond-blackfan anemia 17 10.9
25 microcytic anemia 10.9
26 pernicious anemia 10.3
27 myelodysplastic syndrome 10.1
28 acute erythroid leukemia 10.1
29 leukemia 10.1
30 tropical sprue 10.1
31 thrombocytosis 10.1
32 hydrops, lactic acidosis, and sideroblastic anemia 10.0
33 acute leukemia 10.0
34 thrombocytopenia 10.0
35 steatorrhea 10.0
36 glossitis 10.0
37 congenital hypoplastic anemia 9.8 RPL11 RPL5 RPS17 RPS19
38 blood group, i system 9.8
39 fibrosis of extraocular muscles, congenital, 1 9.8
40 rheumatoid arthritis 9.8
41 myeloma, multiple 9.8
42 nonarteritic anterior ischemic optic neuropathy 9.8
43 thymoma, familial 9.8
44 anemia, sideroblastic, 1 9.8
45 aging 9.8
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
47 malaria 9.8
48 alcohol abuse 9.8
49 arthritis 9.8
50 bipolar disorder 9.8

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 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NF-kappaB reporter expression GR00312-A 10.31 RPL5 RPS10 RPL26 ALAS2 RPL27 RPL11
2 Decreased viability GR00106-A-0 10.26 RPS19
3 Decreased viability GR00240-S-1 10.26 RPL15 RPS28
4 Decreased viability GR00381-A-1 10.26 RPL15 CDAN1 RPL27 RPL11 RPL35A RPS24
5 Increased G1 DNA content GR00098-A-1 10.15 RPL5 RPL26 ALAS2 RPL27 RPL11 RPL35A
6 Increased viability GR00386-A-1 10.13 RPL15 RPL5 RPS10 RPL26 RPL27 RPL11
7 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 10 RPL15 RPL5 RPS10 RPL11 RPL35A RPS26
8 G0/1 arrest GR00098-A-2 9.91 RPL27 RPL11 RPL35A RPS24 RPS26 RPS19
9 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.86 RPL15 RPL27 RPL11 RPL35A RPS26 RPS17
10 Decreased Hepatitis C virus replication GR00180-A-1 9.81 RPS24 RPS26 RPS28 RPS19
11 HIV Rev nuclear localization GR00247-A-3 9.58 RPL15 RPL11 RPS24
12 Nuclear 40S maturation defects GR00209-A-2 9.55 RPS10 RPL11 RPS26 RPS17 RPS28
13 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.36 RPL5 RPS10 RPL26 RPS17 RPL27 RPL11
14 Nuclear 60S biogenesis defects GR00209-A-3 9.35 RPL5 RPL26 RPL27 RPL11 RPL35A

Drugs & Therapeutics for Macrocytic Anemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Transmission of Lineages I and II of Trypanosoma Cruzi Completed NCT01787968
2 Cognitive Functioning and Quality of Life in CNS Lymphoma Completed NCT00581737

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

MalaCards organs/tissues related to Macrocytic Anemia:

38
Liver, Small Intestine, Bone Marrow, Bone, Neutrophil, Testes

Publications for Macrocytic Anemia

Articles related to Macrocytic Anemia:

(show top 50) (show all 139)
# Title Authors Year
1
Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2. ( 28942350 )
2017
2
Middle Eastern Adolescent With Macrocytic Anemia. ( 28321437 )
2017
3
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
4
Causes of macrocytic anemia among 628 patients: mean corpuscular volumes of 114 and 130A fL as critical markers for categorization. ( 27352093 )
2016
5
Murine tribbles homolog 2 deficiency affects erythroid progenitor development and confers macrocytic anemia on mice. ( 27550848 )
2016
6
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
7
Prevalence of pernicious anemia in patients with macrocytic anemia and low serum B12. ( 25674111 )
2014
8
Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men. ( 24588059 )
2014
9
Differential diagnoses of macrocytic anemia, reticulocytosis and low serum haptoglobin in patients with myelodysplastic syndromes/acute leukemia: comment on "two cases of acute erythroid leukemia presenting with marked macrocytic anemia, reticulocytosis and hemolysis". ( 24390535 )
2014
10
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. ( 24119684 )
2013
11
Amisulpride-induced macrocytic anemia. ( 23487206 )
2013
12
Macrocytic anemia and thrombocytopenia induced by orlistat. ( 24719628 )
2013
13
Two cases of acute erythroid leukemia presenting with marked macrocytic anemia, reticulocytosis and hemolysis. ( 23812200 )
2013
14
Spontaneous resolution of macrocytic anemia: old disease revisited. ( 22915983 )
2012
15
Clinical evaluation of severe anemia in pregnancy with special reference to macrocytic anemia. ( 22070165 )
2012
16
Coprophagia and pica in individuals with mild to moderate dementia and mixed (iron deficiency and macrocytic) anemia. ( 22188083 )
2011
17
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. ( 19966810 )
2010
18
Case 40. Misdiagnosis of refractory macrocytic anemia. ( 19021064 )
2008
19
Clinico-aetiologic profile of macrocytic anemias with special reference to megaloblastic anemia. ( 23100955 )
2008
20
Pancytopenia, including macrocytic anemia, associated with leflunomide in a rheumatoid arthritis patient. ( 17929140 )
2007
21
Macrocytic anemia during low-dose cisplatin and 5-Fluorouracil through implanted infusion port for unresectable hepatobilliary malignancies. ( 15865072 )
2005
22
Life-threatening maternal and fetal macrocytic anemia from antiretroviral therapy. ( 16260567 )
2005
23
Intractable epilepsy as the presentation of vitamin B deficiency in the absence of macrocytic anemia. ( 16026570 )
2005
24
Azathioprine-induced fatal macrocytic anemia in rabbits. ( 12593539 )
2002
25
87-year-old man with macrocytic anemia. ( 11213309 )
2001
26
Macrocytic anemia and thrombocytosis associated with thymoma: a case report. ( 10602167 )
2000
27
High prevalence of atrophic body gastritis in patients with unexplained microcytic and macrocytic anemia: a prospective screening study. ( 10086664 )
1999
28
[Macrocytic anemia with anisocytosis due to alcohol abuse and vitamin B6 deficiency]. ( 9866426 )
1998
29
Rapid evolution of multiple myeloma after cobalamin therapy for megaloblastic erythropoiesis with macrocytic anemia. ( 9619920 )
1998
30
Dose-related thrombocytopenia and macrocytic anemia associated with valproate use in bipolar disorder. ( 9108818 )
1997
31
Macrocytic anemia. ( 8546042 )
1996
32
Simultaneous measurement of reticulocyte and red blood cell indices in healthy subjects and patients with microcytic and macrocytic anemia. ( 7833482 )
1995
33
Vitamin supplements improve the fertility potential of a subfertile male with macrocytic anemia--a case study. ( 7795372 )
1994
34
Partial amelioration of AZT-induced macrocytic anemia in the mouse by folic acid. ( 8241950 )
1993
35
A practical approach to the differential diagnosis and evaluation of the adult patient with macrocytic anemia. ( 1578958 )
1992
36
Anterior ischemic optic neuropathy associated with macrocytic anemia. ( 2150841 )
1990
37
Clinching the diagnosis: macrocytic anemia. ( 3241737 )
1988
38
Macrocytic anemia. ( 3821094 )
1987
39
A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. ( 2873525 )
1986
40
Macrocytic anemia, thrombocytosis, and nonlobulated megakaryocytes (5q-syndrome): report of a case. ( 3949554 )
1986
41
Gametic and pleiotropic defects in mouse fetuses with Hertwig's macrocytic anemia. ( 4018402 )
1985
42
Hypothyroidism causing macrocytic anemia unresponsive to B12 and folate. ( 6864824 )
1983
43
Experimental production of possible autoimmune castritis followed by macrocytic anemia in athymic nude mice. ( 7374103 )
1980
44
Macrocytic anemia, thrombocytosis and nonlobulated megakaryocytes: the 5q-syndrome, a distinct entity. ( 453227 )
1979
45
Spurious macrocytic anemia. ( 105543 )
1979
46
Investigation of macrocytic anemia. ( 368738 )
1979
47
Erythropoiesis during recovery from macrocytic anemia: macrocytes, normocytes, and microcytes. ( 922166 )
1977
48
Neutrophilic hypersegmentation without macrocytic anemia. ( 4414806 )
1974
49
Cytochemical study of granulopoietic tissue. 3. Megaloblastic and macrocytic anemia. ( 5020392 )
1972
50
Nutritional macrocytic anemia of infancy and childhood. ( 5475355 )
1970

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
13.86 ADH1B ALAS2 RPL11 RPL15 RPL26 RPL27
2
Show member pathways
13.68 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3
Show member pathways
13.64 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4
Show member pathways
13.59 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5
Show member pathways
13.37 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
6
Show member pathways
12.57 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
7
Show member pathways
12.19 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
8
Show member pathways
12.08 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5

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 extracellular matrix GO:0031012 9.91 RPL11 RPL27 RPL35A RPS10 RPS17 RPS19
2 focal adhesion GO:0005925 9.89 RPL27 RPL5 RPS10 RPS17 RPS19
3 intracellular ribonucleoprotein complex GO:0030529 9.77 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4 cytosolic large ribosomal subunit GO:0022625 9.73 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5 cytosolic small ribosomal subunit GO:0022627 9.7 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
6 small ribosomal subunit GO:0015935 9.63 RPS24 RPS26 RPS28
7 ribosome GO:0005840 9.44 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
8 cytosol GO:0005829 10.24 ADH1B CDAN1 RPL11 RPL15 RPL26 RPL27
9 nucleoplasm GO:0005654 10.22 ADH1B RPL11 RPL26 RPL5 RPS10 RPS17
10 extracellular exosome GO:0070062 10.18 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
11 intracellular GO:0005622 10.1 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.97 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
2 ribosomal small subunit assembly GO:0000028 9.8 RPS10 RPS17 RPS19 RPS27 RPS28
3 translational initiation GO:0006413 9.77 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4 ribosomal large subunit biogenesis GO:0042273 9.76 RPL11 RPL26 RPL35A RPL5
5 ribosomal small subunit biogenesis GO:0042274 9.73 RPS17 RPS19 RPS24 RPS28
6 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.67 RPS19 RPS24 TSR2
7 cytoplasmic translation GO:0002181 9.65 RPL15 RPL26 RPL35A
8 ribosomal large subunit assembly GO:0000027 9.57 RPL11 RPL5
9 maturation of SSU-rRNA GO:0030490 9.56 RPS19 RPS28
10 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process GO:2000059 9.55 RPL11 RPL5
11 erythrocyte homeostasis GO:0034101 9.54 RPS17 RPS24
12 negative regulation of ubiquitin protein ligase activity GO:1904667 9.52 RPL11 RPL5
13 negative regulation of protein neddylation GO:2000435 9.51 RPL11 RPL5
14 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.44 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
15 rRNA processing GO:0006364 10.21 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
16 viral transcription GO:0019083 10.13 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
17 translation GO:0006412 10.07 RPL11 RPL15 RPL26 RPL27 RPL35A 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 9.77 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
2 structural constituent of ribosome GO:0003735 9.44 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3 mRNA 5-UTR binding GO:0048027 9.32 RPL26 RPL5
4 5S rRNA binding GO:0008097 9.26 RPL11 RPL5
5 ubiquitin ligase inhibitor activity GO:1990948 9.16 RPL11 RPL5

Sources for Macrocytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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