MCID: MCR017
MIFTS: 41

Macrocytic Anemia malady

Category: Blood diseases

Aliases & Classifications for Macrocytic Anemia

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Aliases & Descriptions for Macrocytic Anemia:

Name: Macrocytic Anemia 11 13
Anemia Macrocytic 11 27 50
Anemia, Macrocytic 39 68
 
Macrocytic Anaemia of Unspecified Cause 11
Macrocytic Anemia of Unspecified Cause 11

Classifications:



External Ids:

Disease Ontology11 DOID:2361
MeSH39 D000748
NCIt45 C34381

Summaries for Macrocytic Anemia

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Wikipedia:71 The term macrocytic is from Greek words meaning \"large cell\". A macrocytic class of anemia is an... more...

MalaCards based summary: Macrocytic Anemia, also known as anemia macrocytic, is related to macrocytic anemia, refractory, due to 5q deletion, somatic and diamond-blackfan anemia 7. An important gene associated with Macrocytic Anemia is SFXN4 (Sideroflexin 4), and among its related pathways are Translational Control and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Affiliated tissues include liver, small intestine and bone marrow, and related mouse phenotypes are HIV Rev nuclear localization and Decreased Hepatitis C virus replication.

Related Diseases for Macrocytic Anemia

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Diseases related to Macrocytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1macrocytic anemia, refractory, due to 5q deletion, somatic12.3
2diamond-blackfan anemia 711.0
3diamond-blackfan anemia 611.0
4diamond-blackfan anemia 811.0
5diamond-blackfan anemia 1211.0
6diamond-blackfan anemia 511.0
7diamond-blackfan anemia 911.0
8diamond-blackfan anemia 311.0
9combined oxidative phosphorylation deficiency 1811.0
10diamond-blackfan anemia 1011.0
11diamond-blackfan anemia 411.0
12dyserythropoietic anemia, congenital, type ib11.0
13diamond-blackfan anemia 1111.0
14diamond-blackfan anemia 111.0
15dyserythropoietic anemia, congenital, type ia11.0
16diamond-blackfan anemia 210.8
17megaloblastic anemia-1, finnish type10.8
18diamond-blackfan anemia 1310.8
19diamond blackfan anemia 15 with mandibulofacial dysostosis10.8
20diamond-blackfan anemia 14 with mandibulofacial dysostosis10.8
21microcytic anemia10.8
22pernicious anemia10.2
23myelodysplastic syndrome10.0
24acute erythroid leukemia10.0
25leukemia10.0
26tropical sprue10.0
27thrombocytosis10.0
28glomerulosclerosis, focal segmental, 610.0C15orf41, CDAN1
29acute leukemia9.9
30thrombocytopenia9.9
31steatorrhea9.9
32glossitis9.9
33rheumatoid arthritis9.7
34malaria9.7
35multiple myeloma9.7
36alcohol abuse9.7
37arthritis9.7
38bipolar disorder9.7
39diamond-blackfan anemia9.7
40hepatitis9.7
41ischemic optic neuropathy9.7
42liver disease9.7
43pancytopenia9.7
44dementia9.7
45kwashiorkor9.7
46hypothyroidism9.7
47epilepsy9.7
48thymoma9.7
49linitis plastica9.7
50gastritis9.7

Graphical network of the top 20 diseases related to Macrocytic Anemia:



Diseases related to macrocytic anemia

Symptoms & Phenotypes for Macrocytic Anemia

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Drugs & Therapeutics for Macrocytic Anemia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Transmission of Lineages I and II of Trypanosoma CruziCompletedNCT01787968

Search NIH Clinical Center for Macrocytic Anemia


Cochrane evidence based reviews: anemia, macrocytic

Genetic Tests for Macrocytic Anemia

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Genetic tests related to Macrocytic Anemia:

id Genetic test Affiliating Genes
1 Macrocytic Anemia27

Anatomical Context for Macrocytic Anemia

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MalaCards organs/tissues related to Macrocytic Anemia:

36
Liver, Small intestine, Bone marrow, Bone, Neutrophil, Testes

Publications for Macrocytic Anemia

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Articles related to Macrocytic Anemia:

(show top 50)    (show all 137)
idTitleAuthorsYear
1
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. (26862056)
2016
2
Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. (27169803)
2016
3
Causes of macrocytic anemia among 628 patients: mean corpuscular volumes of 114 and 130A fL as critical markers for categorization. (27352093)
2016
4
Murine tribbles homolog 2 deficiency affects erythroid progenitor development and confers macrocytic anemia on mice. (27550848)
2016
5
Prevalence of pernicious anemia in patients with macrocytic anemia and low serum B12. (25674111)
2014
6
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
7
Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men. (24588059)
2014
8
Amisulpride-induced macrocytic anemia. (23487206)
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
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. (24119684)
2013
12
Spontaneous resolution of macrocytic anemia: old disease revisited. (22915983)
2012
13
Clinical evaluation of severe anemia in pregnancy with special reference to macrocytic anemia. (22070165)
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
Case 40. Misdiagnosis of refractory macrocytic anemia. (19021064)
2008
17
Clinico-aetiologic profile of macrocytic anemias with special reference to megaloblastic anemia. (23100955)
2008
18
Pancytopenia, including macrocytic anemia, associated with leflunomide in a rheumatoid arthritis patient. (17929140)
2007
19
Life-threatening maternal and fetal macrocytic anemia from antiretroviral therapy. (16260567)
2005
20
Intractable epilepsy as the presentation of vitamin B deficiency in the absence of macrocytic anemia. (16026570)
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
Rapid evolution of multiple myeloma after cobalamin therapy for megaloblastic erythropoiesis with macrocytic anemia. (9619920)
1998
27
Macrocytic anemia with anisocytosis due to alcohol abuse and vitamin B6 deficiency]. (9866426)
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
Macrocytic anemia, thrombocytosis, and nonlobulated megakaryocytes (5q-syndrome): report of a case. (3949554)
1986
38
A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. (2873525)
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
Macrocytic anemia, thrombocytosis and nonlobulated megakaryocytes: the 5q-syndrome, a distinct entity. (453227)
1979
43
Spurious macrocytic anemia. (105543)
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
KWASHIORKOR IN EGYPT. II. HEMATOLOGIC ASPECTS (THE OCCURENCE OF A MACROCYTIC ANEMIA ASSOCIATED WITH LOW SERUM VITAMIN E AND A WIDE RANGE OF SERUM VITAMIN B12 LEVELS). (14322834)
1965

Variations for Macrocytic Anemia

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Expression for genes affiliated with Macrocytic Anemia

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Search GEO for disease gene expression data for Macrocytic Anemia.

Pathways for genes affiliated with Macrocytic Anemia

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Pathways related to Macrocytic Anemia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6RPL11, RPL26, RPL5
2
Show member pathways
8.6RPS10, RPS17, RPS19, RPS24, RPS26, RPS28
3
Show member pathways
6.8RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
4
Show member pathways
6.8RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
5
Show member pathways
6.8RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
6
Show member pathways
6.8RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
7
Show member pathways
5.2ADH1B, ALAS2, RPL11, RPL15, RPL26, RPL35A

GO Terms for genes affiliated with Macrocytic Anemia

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

idNameGO IDScoreTop Affiliating Genes
1focal adhesionGO:000592510.3RPL5, RPS10, RPS17, RPS19
2extracellular matrixGO:003101210.0RPL11, RPL35A, RPS10, RPS17, RPS19
3nucleolusGO:00057309.7RPL11, RPL5, RPS10, RPS19, RPS26
4cytosolic large ribosomal subunitGO:00226259.5RPL11, RPL15, RPL26, RPL35A, RPL5
5cytosolic small ribosomal subunitGO:00226279.5RPS10, RPS17, RPS19, RPS24, RPS26, RPS28
6ribosomeGO:00058409.5RPL15, RPS10, RPS17, RPS19
7small ribosomal subunitGO:00159359.4RPS24, RPS26, RPS28
8membraneGO:00160208.0RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
9extracellular exosomeGO:00700627.7RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
10cytosolGO:00058296.8ADH1B, RPL11, RPL15, RPL26, RPL35A, RPL5

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1ribosomal large subunit assemblyGO:000002710.7RPL11, RPL5
2erythrocyte homeostasisGO:003410110.6RPS17, RPS24
3ribosomal small subunit assemblyGO:000002810.4RPS10, RPS17, RPS19
4maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:000046210.2RPS19, RPS24, TSR2
5ribosomal large subunit biogenesisGO:004227310.0RPL11, RPL26, RPL35A, RPL5
6ribosomal small subunit biogenesisGO:004227410.0RPS17, RPS19, RPS24, RPS28
7cytoplasmic translationGO:00021819.9RPL15, RPL26, RPL35A
8nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:00001847.5RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
9rRNA processingGO:00063647.5RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
10SRP-dependent cotranslational protein targeting to membraneGO:00066147.5RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
11translationGO:00064127.4RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
12translational initiationGO:00064137.4RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
13viral transcriptionGO:00190836.8RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10

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

idNameGO IDScoreTop Affiliating Genes
1RNA bindingGO:00037239.5RPL11, RPL15, RPL26, RPL5
2poly(A) RNA bindingGO:00448227.5RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
3structural constituent of ribosomeGO:00037356.8RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10

Sources for Macrocytic Anemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet