MCID: MCR017
MIFTS: 42

Macrocytic Anemia malady

Category: Blood diseases

Aliases & Classifications for Macrocytic Anemia

About this section

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

About this section
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 megaloblastic anemia. An important gene associated with Macrocytic Anemia is SFXN4 (Sideroflexin 4), and among its related pathways are Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and Viral mRNA Translation. Affiliated tissues include liver, small intestine and bone marrow, and related mouse phenotypes are HIV Rev nuclear localization and Decreased shRNA abundance (Z-score < -2).

Related Diseases for Macrocytic Anemia

About this section

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

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1macrocytic anemia, refractory, due to 5q deletion, somatic12.3
2megaloblastic anemia11.2
3diamond-blackfan anemia 711.0
4diamond-blackfan anemia 611.0
5diamond-blackfan anemia 811.0
6diamond-blackfan anemia 1211.0
7diamond-blackfan anemia 511.0
8diamond-blackfan anemia 911.0
9diamond-blackfan anemia 311.0
10combined oxidative phosphorylation deficiency 1811.0
11diamond-blackfan anemia 1011.0
12diamond-blackfan anemia 411.0
13dyserythropoietic anemia, congenital, type ib11.0
14diamond-blackfan anemia 1111.0
15diamond-blackfan anemia 111.0
16dyserythropoietic anemia, congenital, type ia11.0
1711.0
18diamond-blackfan anemia 210.8
19diamond-blackfan anemia 1310.8
20diamond blackfan anemia 15 with mandibulofacial dysostosis10.8
21diamond-blackfan anemia 14 with mandibulofacial dysostosis10.8
22microcytic anemia10.8
23pernicious anemia10.2
24deafness, autosomal recessive 3210.2RPL5, RPS19
25myelodysplastic syndrome10.0
26acute erythroid leukemia10.0
27leukemia10.0
28tropical sprue10.0
29thrombocytosis10.0
30acute leukemia9.9
31thrombocytopenia9.9
32steatorrhea9.9
33glossitis9.9
34glanders9.8RPL11, RPL35A, RPL5, RPS17, RPS19
35rheumatoid arthritis9.7
36malaria9.7
37multiple myeloma9.7
38alcohol abuse9.7
39arthritis9.7
40bipolar disorder9.7
41diamond-blackfan anemia9.7
42hepatitis9.7
43ischemic optic neuropathy9.7
44liver disease9.7
45pancytopenia9.7
46dementia9.7
47kwashiorkor9.7
48hypothyroidism9.7
49epilepsy9.7
50thymoma9.7

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



Diseases related to macrocytic anemia

Symptoms & Phenotypes for Macrocytic Anemia

About this section

Drugs & Therapeutics for Macrocytic Anemia

About this section

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

About this section

Genetic tests related to Macrocytic Anemia:

id Genetic test Affiliating Genes
1 Macrocytic Anemia27

Anatomical Context for Macrocytic Anemia

About this section

MalaCards organs/tissues related to Macrocytic Anemia:

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

Publications for Macrocytic Anemia

About this section

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
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

About this section

Expression for genes affiliated with Macrocytic Anemia

About this section
Search GEO for disease gene expression data for Macrocytic Anemia.

Pathways for genes affiliated with Macrocytic Anemia

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
7.6RPS10, RPS14, RPS17, RPS19, RPS24, RPS26
2
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
3
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
4
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
5
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
6
Show member pathways
5.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
7
Show member pathways
5.4RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
8
Show member pathways
5.0ADH1B, ALAS2, RPL11, RPL15, RPL26, RPL35A

GO Terms for genes affiliated with Macrocytic Anemia

About this section

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1focal adhesionGO:00059259.7RPL5, RPS10, RPS14, RPS17, RPS19
2extracellular matrixGO:00310129.3RPL11, RPL35A, RPS10, RPS14, RPS17, RPS19
3cytosolic large ribosomal subunitGO:00226259.3RPL11, RPL15, RPL26, RPL35A, RPL5
4nucleolusGO:00057309.1RPL11, RPL26, RPL5, RPS10, RPS14, RPS19
5small ribosomal subunitGO:00159358.9RPS24, RPS26, RPS28
6cytosolic small ribosomal subunitGO:00226278.5RPS10, RPS14, RPS17, RPS19, RPS24, RPS26
7intracellularGO:00056227.2RPL11, RPL15, RPL26, RPL35A, RPL5, RPS17
8nucleoplasmGO:00056547.2ADH1B, RPL11, RPL26, RPS10, RPS14, RPS17
9extracellular exosomeGO:00700626.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
10intracellular ribonucleoprotein complexGO:00305296.4RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
11ribosomeGO:00058406.0RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
12cytosolGO:00058296.0ADH1B, CDAN1, RPL11, RPL15, RPL26, RPL35A

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein neddylationGO:200043510.6RPL11, RPL5
2negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:200005910.6RPL11, RPL5
3negative regulation of ubiquitin protein ligase activityGO:190466710.6RPL11, RPL5
4ribosomal large subunit assemblyGO:000002710.6RPL11, RPL5
5erythrocyte homeostasisGO:003410110.5RPS17, RPS24
6erythrocyte differentiationGO:003021810.4ALAS2, RPS14, RPS19
7maturation of SSU-rRNAGO:00304909.8RPS14, RPS19, RPS28
8ribosomal large subunit biogenesisGO:00422739.7RPL11, RPL26, RPL35A, RPL5
9maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)GO:00004629.6RPS14, RPS19, RPS24, TSR2
10ribosomal small subunit biogenesisGO:00422749.5RPS17, RPS19, RPS24, RPS28
11ribosomal small subunit assemblyGO:00000289.1RPS10, RPS14, RPS17, RPS19, RPS28
12nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:00001846.3RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
13SRP-dependent cotranslational protein targeting to membraneGO:00066146.3RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
14translationGO:00064126.2RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
15translational initiationGO:00064136.2RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
16rRNA processingGO:00063645.7RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
17viral transcriptionGO:00190835.6RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10

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

idNameGO IDScoreTop Affiliating Genes
15S rRNA bindingGO:000809710.6RPL11, RPL5
2mRNA 5-UTR bindingGO:004802710.1RPL26, RPL5, RPS14
3ubiquitin ligase inhibitor activityGO:19909489.9RPL11, RPL5
4RNA bindingGO:00037236.2RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10
5structural constituent of ribosomeGO:00037355.7RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10

Sources for Macrocytic Anemia

About this section
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