MCID: MCR017
MIFTS: 42

Macrocytic Anemia malady

Categories: Blood diseases

Aliases & Classifications for Macrocytic Anemia

Aliases & Descriptions for Macrocytic Anemia:

Name: Macrocytic Anemia 12 14
Anemia Macrocytic 12 29 52
Anemia, Macrocytic 42 69
Macrocytic Anaemia of Unspecified Cause 12
Macrocytic Anemia of Unspecified Cause 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2361
MeSH 42 D000748
NCIt 47 C34381
UMLS 69 C0002886

Summaries for Macrocytic Anemia

MalaCards based summary : Macrocytic Anemia, also known as anemia macrocytic, is related to macrocytic anemia, refractory, due to 5q deletion, somatic and megaloblastic anemia. 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, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Wikipedia : 71 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 58)
id Related Disease Score Top Affiliating Genes
1 macrocytic anemia, refractory, due to 5q deletion, somatic 12.3
2 megaloblastic anemia 11.2
3 diamond-blackfan anemia 6 11.0
4 diamond-blackfan anemia 11 11.0
5 diamond-blackfan anemia 8 11.0
6 diamond-blackfan anemia 1 11.0
7 diamond-blackfan anemia 12 11.0
8 dyserythropoietic anemia, congenital, type ia 11.0
9 diamond-blackfan anemia 5 11.0
10 diamond-blackfan anemia 9 11.0
11 diamond-blackfan anemia 3 11.0
12 combined oxidative phosphorylation deficiency 18 11.0
13 diamond-blackfan anemia 10 11.0
14 diamond-blackfan anemia 4 11.0
15 diamond-blackfan anemia 7 11.0
16 dyserythropoietic anemia, congenital, type ib 11.0
17 diamond blackfan anemia 15 with mandibulofacial dysostosis 10.8
18 diamond-blackfan anemia 14 with mandibulofacial dysostosis 10.8
19 microcytic anemia 10.8
20 diamond-blackfan anemia 2 10.8
21 diamond-blackfan anemia 13 10.8
22 pernicious anemia 10.2
23 deafness, autosomal recessive 32 10.2 RPL5 RPS19
24 tropical sprue 10.0
25 myelodysplastic syndrome 10.0
26 acute erythroid leukemia 10.0
27 thrombocytosis 10.0
28 leukemia 10.0
29 steatorrhea 9.9
30 acute leukemia 9.9
31 glossitis 9.9
32 thrombocytopenia 9.9
33 glanders 9.8 RPL11 RPL35A RPL5 RPS17 RPS19
34 neuropathy 9.7
35 malaria 9.7
36 sideroblastic anemia 9.7
37 homocystinuria 9.7
38 pancytopenia 9.7
39 dementia 9.7
40 alcohol abuse 9.7
41 arthritis 9.7
42 kwashiorkor 9.7
43 bipolar disorder 9.7
44 diamond-blackfan anemia 9.7
45 hypothyroidism 9.7
46 multiple myeloma 9.7
47 hepatitis 9.7
48 epilepsy 9.7
49 ischemic optic neuropathy 9.7
50 thymoma 9.7

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.59 RPL5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.59 RPS14 RPS17
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.59 RPS17
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.59 RPS17
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.59 RPS14 RPL5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.59 RPL5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.59 RPS17
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.59 RPS17
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.59 RPS17
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 10.59 RPS17 RPS14
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.59 RPS17 RPS10 RPS14 RPL5
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.59 RPS14 RPL5
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.59 RPS17
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.59 RPS10
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.59 RPS10
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.59 RPS14 RPS17 RPL5
17 Decreased viability GR00106-A-0 10.5 RPS19 RPS14 RPL5 RPS17
18 Decreased viability GR00240-S-1 10.5 RPL15 RPS14 RPS28
19 Decreased viability GR00381-A-1 10.5 CDAN1 RPS19 RPL11 RPL15 RPL35A RPS14
20 Decreased NF-kappaB reporter expression GR00312-A 10.32 ALAS2 RPL11 RPL15 RPL26 RPL35A RPL5
21 Increased viability GR00386-A-1 10.13 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
22 Increased G1 DNA content GR00098-A-1 10.11 ALAS2 RPL11 RPL15 RPL26 RPL35A RPL5
23 Decreased viability of wild-type and TP53 knockout cells GR00196-A-1 10.06 RPL35A RPL5 RPS10 RPS14 RPS17 RPS26
24 Decreased Hepatitis C virus replication GR00180-A-1 9.92 RPS14 RPS19 RPS24 RPS26 RPS28
25 G0/1 arrest GR00098-A-2 9.83 RPL11 RPL35A RPS19 RPS24 RPS26
26 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.8 RPL11 RPL15 RPL35A RPS17 RPS19 RPS26
27 Nuclear 40S maturation defects GR00209-A-2 9.63 RPS26 RPS28 RPL11 RPS10 RPS14 RPS17
28 HIV Rev nuclear localization GR00247-A-3 9.58 RPL11 RPL15 RPS24
29 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.32 RPL11 RPL26 RPL35A RPL5 RPS10 RPS14
30 Nuclear 60S biogenesis defects GR00209-A-3 9.26 RPL11 RPL26 RPL35A RPL5

Drugs & Therapeutics for Macrocytic Anemia

Interventional clinical trials:


id Name Status NCT ID Phase
1 Congenital Transmission of Lineages I and II of Trypanosoma Cruzi Completed NCT01787968

Search NIH Clinical Center for Macrocytic Anemia

Cochrane evidence based reviews: anemia, macrocytic

Genetic Tests for Macrocytic Anemia

Genetic tests related to Macrocytic Anemia:

id Genetic test Affiliating Genes
1 Macrocytic Anemia 29

Anatomical Context for Macrocytic Anemia

MalaCards organs/tissues related to Macrocytic Anemia:

39
Liver, Small Intestine, Bone, Bone Marrow, Testes, Neutrophil

Publications for Macrocytic Anemia

Articles related to Macrocytic Anemia:

(show top 50) (show all 137)
id Title Authors Year
1
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
2
Causes of macrocytic anemia among 628 patients: mean corpuscular volumes of 114 and 130A fL as critical markers for categorization. ( 27352093 )
2016
3
Murine tribbles homolog 2 deficiency affects erythroid progenitor development and confers macrocytic anemia on mice. ( 27550848 )
2016
4
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. ( 27169803 )
2016
5
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
6
Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men. ( 24588059 )
2014
7
Prevalence of pernicious anemia in patients with macrocytic anemia and low serum B12. ( 25674111 )
2014
8
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. ( 24119684 )
2013
9
Macrocytic anemia and thrombocytopenia induced by orlistat. ( 24719628 )
2013
10
Two cases of acute erythroid leukemia presenting with marked macrocytic anemia, reticulocytosis and hemolysis. ( 23812200 )
2013
11
Amisulpride-induced macrocytic anemia. ( 23487206 )
2013
12
Clinical evaluation of severe anemia in pregnancy with special reference to macrocytic anemia. ( 22070165 )
2012
13
Spontaneous resolution of macrocytic anemia: old disease revisited. ( 22915983 )
2012
14
Coprophagia and pica in individuals with mild to moderate dementia and mixed (iron deficiency and macrocytic) anemia. ( 22188083 )
2011
15
A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. ( 19966810 )
2010
16
Clinico-aetiologic profile of macrocytic anemias with special reference to megaloblastic anemia. ( 23100955 )
2008
17
Case 40. Misdiagnosis of refractory macrocytic anemia. ( 19021064 )
2008
18
Pancytopenia, including macrocytic anemia, associated with leflunomide in a rheumatoid arthritis patient. ( 17929140 )
2007
19
Intractable epilepsy as the presentation of vitamin B deficiency in the absence of macrocytic anemia. ( 16026570 )
2005
20
Life-threatening maternal and fetal macrocytic anemia from antiretroviral therapy. ( 16260567 )
2005
21
Macrocytic anemia during low-dose cisplatin and 5-Fluorouracil through implanted infusion port for unresectable hepatobilliary malignancies. ( 15865072 )
2005
22
Azathioprine-induced fatal macrocytic anemia in rabbits. ( 12593539 )
2002
23
87-year-old man with macrocytic anemia. ( 11213309 )
2001
24
Macrocytic anemia and thrombocytosis associated with thymoma: a case report. ( 10602167 )
2000
25
High prevalence of atrophic body gastritis in patients with unexplained microcytic and macrocytic anemia: a prospective screening study. ( 10086664 )
1999
26
[Macrocytic anemia with anisocytosis due to alcohol abuse and vitamin B6 deficiency]. ( 9866426 )
1998
27
Rapid evolution of multiple myeloma after cobalamin therapy for megaloblastic erythropoiesis with macrocytic anemia. ( 9619920 )
1998
28
Dose-related thrombocytopenia and macrocytic anemia associated with valproate use in bipolar disorder. ( 9108818 )
1997
29
Macrocytic anemia. ( 8546042 )
1996
30
Simultaneous measurement of reticulocyte and red blood cell indices in healthy subjects and patients with microcytic and macrocytic anemia. ( 7833482 )
1995
31
Vitamin supplements improve the fertility potential of a subfertile male with macrocytic anemia--a case study. ( 7795372 )
1994
32
Partial amelioration of AZT-induced macrocytic anemia in the mouse by folic acid. ( 8241950 )
1993
33
A practical approach to the differential diagnosis and evaluation of the adult patient with macrocytic anemia. ( 1578958 )
1992
34
Anterior ischemic optic neuropathy associated with macrocytic anemia. ( 2150841 )
1990
35
Clinching the diagnosis: macrocytic anemia. ( 3241737 )
1988
36
Macrocytic anemia. ( 3821094 )
1987
37
A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. ( 2873525 )
1986
38
Macrocytic anemia, thrombocytosis, and nonlobulated megakaryocytes (5q-syndrome): report of a case. ( 3949554 )
1986
39
Gametic and pleiotropic defects in mouse fetuses with Hertwig's macrocytic anemia. ( 4018402 )
1985
40
Hypothyroidism causing macrocytic anemia unresponsive to B12 and folate. ( 6864824 )
1983
41
Experimental production of possible autoimmune castritis followed by macrocytic anemia in athymic nude mice. ( 7374103 )
1980
42
Spurious macrocytic anemia. ( 105543 )
1979
43
Macrocytic anemia, thrombocytosis and nonlobulated megakaryocytes: the 5q-syndrome, a distinct entity. ( 453227 )
1979
44
Investigation of macrocytic anemia. ( 368738 )
1979
45
Erythropoiesis during recovery from macrocytic anemia: macrocytes, normocytes, and microcytes. ( 922166 )
1977
46
Neutrophilic hypersegmentation without macrocytic anemia. ( 4414806 )
1974
47
Cytochemical study of granulopoietic tissue. 3. Megaloblastic and macrocytic anemia. ( 5020392 )
1972
48
Nutritional macrocytic anemia of infancy and childhood. ( 5475355 )
1970
49
Vitamin E-responsive macrocytic anemia in protein-calorie malnutrition. Measurements of vitamin E, folic acid, vitamin C, vitamin B12 and iron. ( 5006442 )
1966
50
Gastrointestinal lesions causing macrocytic anemia. ( 5826211 )
1965

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 ADH1B ALAS2 RPL11 RPL15 RPL26 RPL35A
2
Show member pathways
13.65 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
3
Show member pathways
13.61 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
4
Show member pathways
13.55 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
5
Show member pathways
13.44 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
6
Show member pathways
12.54 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
7
Show member pathways
12.09 RPS10 RPS14 RPS17 RPS19 RPS24 RPS26
8
Show member pathways
12.05 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10

GO Terms for Macrocytic Anemia

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 9.99 RPL11 RPL26 RPL5 RPS10 RPS14 RPS19
2 focal adhesion GO:0005925 9.88 RPL5 RPS10 RPS14 RPS17 RPS19
3 extracellular matrix GO:0031012 9.88 RPL11 RPL35A RPS10 RPS14 RPS17 RPS19
4 ribosome GO:0005840 9.73 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
5 cytosolic small ribosomal subunit GO:0022627 9.7 RPS10 RPS14 RPS17 RPS19 RPS24 RPS26
6 cytosolic large ribosomal subunit GO:0022625 9.65 RPL11 RPL15 RPL26 RPL35A RPL5
7 small ribosomal subunit GO:0015935 9.63 RPS24 RPS26 RPS28
8 intracellular ribonucleoprotein complex GO:0030529 9.4 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
9 cytosol GO:0005829 10.28 ADH1B CDAN1 RPL11 RPL15 RPL26 RPL35A
10 nucleoplasm GO:0005654 10.19 ADH1B RPL11 RPL26 RPS10 RPS14 RPS17
11 extracellular exosome GO:0070062 10.15 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
12 intracellular GO:0005622 10.02 RPL11 RPL15 RPL26 RPL35A RPL5 RPS17

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 translational initiation GO:0006413 9.93 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
2 ribosomal small subunit assembly GO:0000028 9.8 RPS10 RPS14 RPS17 RPS19 RPS28
3 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.78 RPS14 RPS19 RPS24 TSR2
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 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.73 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
7 erythrocyte differentiation GO:0030218 9.7 ALAS2 RPS14 RPS19
8 maturation of SSU-rRNA GO:0030490 9.67 RPS14 RPS19 RPS28
9 ribosomal large subunit assembly GO:0000027 9.57 RPL11 RPL5
10 negative regulation of protein ubiquitination involved in 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 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.4 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
15 rRNA processing GO:0006364 10.18 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
16 viral transcription GO:0019083 10.1 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
17 translation GO:0006412 10.03 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10

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

id Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.73 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
2 structural constituent of ribosome GO:0003735 9.4 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
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

Sources for Macrocytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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