MCID: MCR017
MIFTS: 45

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 73
Anemia Macrocytic 12 55
Macrocytic Anaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2361
MeSH 44 D000748
NCIt 50 C34381
UMLS 73 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 Nitrous oxide and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include liver, small intestine and bone marrow, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 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 32.0 RPL5 RPS19
2 anemia, congenital dyserythropoietic, type ia 32.0 C15orf41 CDAN1
3 diamond-blackfan anemia 15 with mandibulofacial dysostosis 30.9 RPS26 RPS28 TSR2
4 diamond-blackfan anemia 21.9 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5 chromosome 5q deletion syndrome 12.2
6 megaloblastic anemia 11.3
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 congenital hypoplastic anemia 10.0 RPL11 RPL5 RPS17 RPS19
33 acute leukemia 10.0
34 thrombocytopenia 10.0
35 steatorrhea 10.0
36 glossitis 10.0
37 acrodysostosis 9.9 C15orf41 CDAN1
38 acrocephalopolysyndactyly type iii 9.8
39 rheumatoid arthritis 9.8
40 myeloma, multiple 9.8
41 nonarteritic anterior ischemic optic neuropathy 9.8
42 anemia, sideroblastic, 1 9.8
43 aging 9.8
44 malaria 9.8
45 alcohol abuse 9.8
46 arthritis 9.8
47 bipolar disorder 9.8
48 hepatitis 9.8
49 ischemic optic neuropathy 9.8
50 liver disease 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:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.96 RPS17 RPS19 RPL5
2 Decreased viability GR00240-S-1 10.96 RPL15 RPL26 RPS28
3 Decreased viability GR00381-A-1 10.96 RPL11 C15orf41 RPL15 CDAN1 RPL27 RPL35A
4 Decreased viability GR00402-S-2 10.96 RPL11 ALAS2 C15orf41 RPL15 CDAN1 RPL26
5 Decreased NF-kappaB reporter expression GR00312-A 10.32 ALAS2 RPL15 RPL26 RPL11 RPL27 RPS10
6 no effect GR00402-S-1 10.23 ALAS2 C15orf41 RPL15 CDAN1 RPL26 RPL11
7 Increased G1 DNA content GR00098-A-1 10.18 ALAS2 RPL15 RPL26 RPL11 RPL27 RPL35A
8 Increased viability GR00386-A-1 10.18 RPL15 RPL26 RPL11 RPL27 RPS10 RPS17
9 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 10.08 RPL15 RPL11 RPS10 RPL35A RPS17 RPS19
10 G0/1 arrest GR00098-A-2 9.93 RPL11 RPL27 RPL35A RPS19 RPS24 RPS26
11 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.92 RPL15 RPL11 RPL27 RPS17 RPL35A RPS19
12 Decreased Hepatitis C virus replication GR00180-A-1 9.83 RPS19 RPS28 RPS24 RPS26
13 HIV Rev nuclear localization GR00247-A-3 9.61 RPL15 RPL11 RPS24
14 Nuclear 40S maturation defects GR00209-A-2 9.55 RPL11 RPS10 RPS17 RPS26 RPS28
15 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.36 RPL26 RPL11 RPL27 RPS10 RPL35A RPS17
16 Nuclear 60S biogenesis defects GR00209-A-3 9.35 RPL26 RPL11 RPL27 RPL35A RPL5

Drugs & Therapeutics for Macrocytic Anemia

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitrous oxide Approved, Vet_approved Phase 2 10024-97-2 948
2 Analgesics Phase 2
3 Analgesics, Non-Narcotic Phase 2
4 Anesthetics Phase 2
5 Anesthetics, General Phase 2
6 Anesthetics, Inhalation Phase 2
7 Central Nervous System Depressants Phase 2
8 Peripheral Nervous System Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nitrous Oxide Analgesia Vaso-occlusive Crisis Recruiting NCT01891812 Phase 2 Nitrous oxide 50%
2 Congenital Transmission of Lineages I and II of Trypanosoma Cruzi Completed NCT01787968
3 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 29

Anatomical Context for Macrocytic Anemia

MalaCards organs/tissues related to Macrocytic Anemia:

41
Liver, Small Intestine, Bone Marrow, Bone, Neutrophil, Testes

Publications for Macrocytic Anemia

Articles related to Macrocytic Anemia:

(show top 50) (show all 142)
# Title Authors Year
1
Macrocytic anemia in Lesch-Nyhan disease and its variants. ( 29875418 )
2018
2
Thrombotic Microangiopathy-Like Hemolysis in Vitamin B12 Deficiency-Related Macrocytic Anemia. ( 29739088 )
2018
3
Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan. ( 29494340 )
2018
4
Refractory macrocytic anemias in patients with clonal hematopoietic disorders and isolated mutations of the spliceosome gene ZRSR2. ( 28942350 )
2017
5
Middle Eastern Adolescent With Macrocytic Anemia. ( 28321437 )
2017
6
Causes of macrocytic anemia among 628 patients: mean corpuscular volumes of 114 and 130A fL as critical markers for categorization. ( 27352093 )
2016
7
Murine tribbles homolog 2 deficiency affects erythroid progenitor development and confers macrocytic anemia on mice. ( 27550848 )
2016
8
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
9
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
10
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
11
Prevalence of pernicious anemia in patients with macrocytic anemia and low serum B12. ( 25674111 )
2014
12
Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men. ( 24588059 )
2014
13
Macrocytic anemia and thrombocytopenia induced by orlistat. ( 24719628 )
2013
14
Two cases of acute erythroid leukemia presenting with marked macrocytic anemia, reticulocytosis and hemolysis. ( 23812200 )
2013
15
Amisulpride-induced macrocytic anemia. ( 23487206 )
2013
16
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. ( 24119684 )
2013
17
Clinical evaluation of severe anemia in pregnancy with special reference to macrocytic anemia. ( 22070165 )
2012
18
Spontaneous resolution of macrocytic anemia: old disease revisited. ( 22915983 )
2012
19
Coprophagia and pica in individuals with mild to moderate dementia and mixed (iron deficiency and macrocytic) anemia. ( 22188083 )
2011
20
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. ( 19966810 )
2010
21
Clinico-aetiologic profile of macrocytic anemias with special reference to megaloblastic anemia. ( 23100955 )
2008
22
Case 40. Misdiagnosis of refractory macrocytic anemia. ( 19021064 )
2008
23
Pancytopenia, including macrocytic anemia, associated with leflunomide in a rheumatoid arthritis patient. ( 17929140 )
2007
24
Macrocytic anemia during low-dose cisplatin and 5-Fluorouracil through implanted infusion port for unresectable hepatobilliary malignancies. ( 15865072 )
2005
25
Life-threatening maternal and fetal macrocytic anemia from antiretroviral therapy. ( 16260567 )
2005
26
Intractable epilepsy as the presentation of vitamin B deficiency in the absence of macrocytic anemia. ( 16026570 )
2005
27
Azathioprine-induced fatal macrocytic anemia in rabbits. ( 12593539 )
2002
28
87-year-old man with macrocytic anemia. ( 11213309 )
2001
29
Macrocytic anemia and thrombocytosis associated with thymoma: a case report. ( 10602167 )
2000
30
High prevalence of atrophic body gastritis in patients with unexplained microcytic and macrocytic anemia: a prospective screening study. ( 10086664 )
1999
31
[Macrocytic anemia with anisocytosis due to alcohol abuse and vitamin B6 deficiency]. ( 9866426 )
1998
32
Rapid evolution of multiple myeloma after cobalamin therapy for megaloblastic erythropoiesis with macrocytic anemia. ( 9619920 )
1998
33
Dose-related thrombocytopenia and macrocytic anemia associated with valproate use in bipolar disorder. ( 9108818 )
1997
34
Macrocytic anemia. ( 8546042 )
1996
35
Simultaneous measurement of reticulocyte and red blood cell indices in healthy subjects and patients with microcytic and macrocytic anemia. ( 7833482 )
1995
36
Vitamin supplements improve the fertility potential of a subfertile male with macrocytic anemia--a case study. ( 7795372 )
1994
37
Partial amelioration of AZT-induced macrocytic anemia in the mouse by folic acid. ( 8241950 )
1993
38
A practical approach to the differential diagnosis and evaluation of the adult patient with macrocytic anemia. ( 1578958 )
1992
39
Anterior ischemic optic neuropathy associated with macrocytic anemia. ( 2150841 )
1990
40
Clinching the diagnosis: macrocytic anemia. ( 3241737 )
1988
41
Macrocytic anemia. ( 3821094 )
1987
42
A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. ( 2873525 )
1986
43
Macrocytic anemia, thrombocytosis, and nonlobulated megakaryocytes (5q-syndrome): report of a case. ( 3949554 )
1986
44
Gametic and pleiotropic defects in mouse fetuses with Hertwig's macrocytic anemia. ( 4018402 )
1985
45
Hypothyroidism causing macrocytic anemia unresponsive to B12 and folate. ( 6864824 )
1983
46
Experimental production of possible autoimmune castritis followed by macrocytic anemia in athymic nude mice. ( 7374103 )
1980
47
Spurious macrocytic anemia. ( 105543 )
1979
48
Investigation of macrocytic anemia. ( 368738 )
1979
49
Macrocytic anemia, thrombocytosis and nonlobulated megakaryocytes: the 5q-syndrome, a distinct entity. ( 453227 )
1979
50
Erythropoiesis during recovery from macrocytic anemia: macrocytes, normocytes, and microcytes. ( 922166 )
1977

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
13.94 ALAS2 RPL11 RPL15 RPL26 RPL27 RPL35A
2
Show member pathways
13.65 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3
Show member pathways
13.61 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
4
Show member pathways
13.54 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5
Show member pathways
13.37 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
6
Show member pathways
12.42 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
7
Show member pathways
12.24 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
8
Show member pathways
12.19 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 12)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.88 RPL27 RPL5 RPS10 RPS17 RPS19
2 rough endoplasmic reticulum GO:0005791 9.67 RPL27 RPS26 RPS28
3 polysomal ribosome GO:0042788 9.63 RPL11 RPS26 RPS28
4 cytosolic large ribosomal subunit GO:0022625 9.63 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5 small ribosomal subunit GO:0015935 9.61 RPS24 RPS26 RPS28
6 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.5 RPL27 RPS26 RPS28
7 cytosolic small ribosomal subunit GO:0022627 9.5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
8 ribosome GO:0005840 9.44 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
9 cytosol GO:0005829 10.25 CDAN1 RPL11 RPL15 RPL26 RPL27 RPL35A
10 nucleoplasm GO:0005654 10.21 RPL11 RPL26 RPL5 RPS10 RPS17 RPS19
11 extracellular exosome GO:0070062 10.15 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
12 intracellular GO:0005622 10.03 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 viral transcription GO:0019083 9.97 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
2 cytoplasmic translation GO:0002181 9.91 RPL11 RPL15 RPL26 RPL35A RPS26 RPS28
3 ribosomal small subunit assembly GO:0000028 9.8 RPS10 RPS17 RPS19 RPS27 RPS28
4 ribosomal large subunit biogenesis GO:0042273 9.78 RPL11 RPL26 RPL35A RPL5
5 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.77 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
6 ribosomal small subunit biogenesis GO:0042274 9.76 RPS17 RPS19 RPS24 RPS28
7 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.67 RPS19 RPS24 TSR2
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 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 translation GO:0006412 9.44 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
15 rRNA processing GO:0006364 10.21 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
16 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 10.13 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
17 translational initiation GO:0006413 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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