MCID: MCR017
MIFTS: 42

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
SNOMED-CT 68 83414005
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 Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and small intestine, 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 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 74)
# Related Disease Score Top Affiliating Genes
1 diamond-blackfan anemia 1 32.0 RPL5 RPS19
2 anemia, congenital dyserythropoietic, type ia 31.9 C15orf41 CDAN1
3 diamond-blackfan anemia 15 with mandibulofacial dysostosis 31.5 RPS26 RPS28 TSR2
4 diamond-blackfan anemia 27.4 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5 chromosome 5q deletion syndrome 12.3
6 megaloblastic anemia 11.4
7 diamond-blackfan anemia 3 11.2
8 diamond-blackfan anemia 4 11.2
9 diamond-blackfan anemia 5 11.2
10 diamond-blackfan anemia 6 11.2
11 diamond-blackfan anemia 7 11.2
12 diamond-blackfan anemia 8 11.2
13 diamond-blackfan anemia 9 11.2
14 diamond-blackfan anemia 10 11.2
15 diamond-blackfan anemia 11 11.2
16 diamond-blackfan anemia 12 11.2
17 combined oxidative phosphorylation deficiency 18 11.2
18 anemia, congenital dyserythropoietic, type ib 11.2
19 anemia, congenital dyserythropoietic, type iii 11.1
20 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.1
21 diamond-blackfan anemia 2 11.1
22 diamond-blackfan anemia 13 11.1
23 diamond-blackfan anemia 16 11.1
24 diamond-blackfan anemia 17 11.1
25 microcytic anemia 11.1
26 pernicious anemia 10.5
27 acute erythroid leukemia 10.2
28 tropical sprue 10.2
29 thrombocytosis 10.2
30 deficiency anemia 10.1
31 acute leukemia 10.1
32 thrombocytopenia 10.1
33 steatorrhea 10.1
34 glossitis 10.1
35 hypothyroidism 10.1
36 acrodysostosis 10.0 C15orf41 CDAN1
37 dermatitis herpetiformis, familial 10.0
38 west syndrome 10.0
39 3-methylglutaconic aciduria 10.0
40 ancylostomiasis 10.0
41 dermatitis 10.0
42 dermatitis herpetiformis 10.0
43 acrocephalopolysyndactyly type iii 9.9
44 rheumatoid arthritis 9.9
45 myeloma, multiple 9.9
46 nonarteritic anterior ischemic optic neuropathy 9.9
47 anemia, sideroblastic, 1 9.9
48 malaria 9.9
49 myelodysplastic syndrome 9.9
50 alcohol abuse 9.9

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 11.08 RPL5 RPS14 RPS17 RPS19
2 Decreased viability GR00240-S-1 11.08 RPL15 RPL26 RPS14 RPS28
3 Decreased viability GR00381-A-1 11.08 C15orf41 CDAN1 RPL11 RPL15 RPL27 RPL35A
4 Decreased viability GR00402-S-2 11.08 ALAS2 C15orf41 CDAN1 RPL11 RPL15 RPL26
5 Decreased NF-kappaB reporter expression GR00312-A 10.36 ALAS2 RPL11 RPL15 RPL26 RPL27 RPL35A
6 no effect GR00402-S-1 10.26 ALAS2 C15orf41 CDAN1 RPL11 RPL15 RPL26
7 Increased viability GR00386-A-1 10.21 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
8 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 10.18 ALAS2 RPL11 RPL15 RPL26 RPL27 RPL35A
9 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 10.13 RPL11 RPL15 RPL35A RPL5 RPS10 RPS14
10 G0/1 arrest GR00098-A-2 9.93 RPL11 RPL27 RPL35A RPS19 RPS24 RPS26
11 Decreased Hepatitis C virus replication GR00180-A-1 9.92 RPS14 RPS19 RPS24 RPS26 RPS28
12 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.92 RPL11 RPL15 RPL27 RPL35A RPS17 RPS19
13 Nuclear 40S maturation defects GR00209-A-2 9.63 RPL11 RPS10 RPS14 RPS17 RPS26 RPS28
14 HIV Rev nuclear localization GR00247-A-3 9.61 RPL11 RPL15 RPS24
15 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.4 RPL11 RPL26 RPL27 RPL35A RPL5 RPS10
16 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):

(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 Central Nervous System Depressants Phase 2
3 Peripheral Nervous System Agents Phase 2
4 Anesthetics Phase 2
5 Anesthetics, Inhalation Phase 2
6 Analgesics Phase 2
7 Anesthetics, General Phase 2
8 Analgesics, Non-Narcotic 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, Bone, Small Intestine, Bone Marrow, Testes, Neutrophil

Publications for Macrocytic Anemia

Articles related to Macrocytic Anemia:

(show top 50) (show all 143)
# 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
Macrocytic anemia is associated with the severity of liver impairment in patients with hepatitis B virus-related decompensated cirrhosis: a retrospective cross-sectional study. ( 30384828 )
2018
5
My tummy hurts - a case report of abdominal pain and macrocytic anemia caused by hypothyroidism. ( 30159149 )
2018
6
Middle Eastern Adolescent With Macrocytic Anemia. ( 28321437 )
2017
7
Causes of macrocytic anemia among 628 patients: mean corpuscular volumes of 114 and 130A fL as critical markers for categorization. ( 27352093 )
2016
8
Murine tribbles homolog 2 deficiency affects erythroid progenitor development and confers macrocytic anemia on mice. ( 27550848 )
2016
9
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
10
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
11
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
12
Prevalence of pernicious anemia in patients with macrocytic anemia and low serum B12. ( 25674111 )
2014
13
Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men. ( 24588059 )
2014
14
Macrocytic anemia and thrombocytopenia induced by orlistat. ( 24719628 )
2013
15
Two cases of acute erythroid leukemia presenting with marked macrocytic anemia, reticulocytosis and hemolysis. ( 23812200 )
2013
16
Amisulpride-induced macrocytic anemia. ( 23487206 )
2013
17
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. ( 24119684 )
2013
18
Clinical evaluation of severe anemia in pregnancy with special reference to macrocytic anemia. ( 22070165 )
2012
19
Spontaneous resolution of macrocytic anemia: old disease revisited. ( 22915983 )
2012
20
Coprophagia and pica in individuals with mild to moderate dementia and mixed (iron deficiency and macrocytic) anemia. ( 22188083 )
2011
21
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. ( 19966810 )
2010
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
13.97 ALAS2 RPL11 RPL15 RPL26 RPL27 RPL35A
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
13.57 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5
Show member pathways
13.4 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
6
Show member pathways
12.45 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
7
Show member pathways
12.27 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
8
Show member pathways
12.25 RPS10 RPS14 RPS17 RPS19 RPS24 RPS26

GO Terms for Macrocytic Anemia

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.88 RPL27 RPL5 RPS10 RPS14 RPS17 RPS19
2 ribosome GO:0005840 9.8 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3 ribonucleoprotein complex GO:1990904 9.7 RPL26 RPL27 RPL5
4 rough endoplasmic reticulum GO:0005791 9.69 RPL27 RPS26 RPS28
5 polysomal ribosome GO:0042788 9.63 RPL11 RPS26 RPS28
6 cytosolic large ribosomal subunit GO:0022625 9.63 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
7 small ribosomal subunit GO:0015935 9.61 RPS24 RPS26 RPS28
8 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.5 RPL27 RPS26 RPS28
9 cytosolic small ribosomal subunit GO:0022627 9.23 RPS10 RPS14 RPS17 RPS19 RPS24 RPS26
10 cytosol GO:0005829 10.24 CDAN1 RPL11 RPL15 RPL26 RPL27 RPL35A
11 nucleoplasm GO:0005654 10.22 RPL11 RPL26 RPL5 RPS10 RPS14 RPS17
12 extracellular exosome GO:0070062 10.15 RPL11 RPL26 RPL27 RPL35A RPL5 RPS14
13 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 cytoplasmic translation GO:0002181 9.85 RPL11 RPL15 RPL26 RPL35A RPS26 RPS28
2 ribosomal small subunit assembly GO:0000028 9.8 RPS10 RPS14 RPS19 RPS27 RPS28
3 translational initiation GO:0006413 9.8 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 erythrocyte differentiation GO:0030218 9.7 ALAS2 RPS14 RPS19
7 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.67 RPS14 RPS19 TSR2
8 maturation of SSU-rRNA GO:0030490 9.65 RPS14 RPS19 RPS28
9 ribosomal large subunit assembly GO:0000027 9.57 RPL11 RPL5
10 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.56 RPL11 RPL5
11 erythrocyte homeostasis GO:0034101 9.55 RPS17 RPS24
12 negative regulation of ubiquitin protein ligase activity GO:1904667 9.54 RPL11 RPL5
13 negative regulation of protein neddylation GO:2000435 9.51 RPL11 RPL5
14 rRNA processing GO:0006364 9.4 RPL11 RPL26 RPL27 RPL35A RPL5 RPS14
15 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 10.17 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
16 SRP-dependent cotranslational protein targeting to membrane GO:0006614 10.1 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
17 translation GO:0006412 10 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 9.8 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
2 structural constituent of ribosome GO:0003735 9.47 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3 mRNA 5'-UTR binding GO:0048027 9.33 RPL26 RPL5 RPS14
4 5S rRNA binding GO:0008097 9.32 RPL11 RPL5
5 ubiquitin ligase inhibitor activity GO:1990948 9.26 RPL11 RPL5
6 protein binding GO:0005515 10.27 ALAS2 CDAN1 RPL11 RPL15 RPL26 RPL27

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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