MCID: MGL001
MIFTS: 47

Megaloblastic Anemia malady

Genetic diseases, Rare diseases, Blood diseases, Gastrointestinal diseases, Metabolic diseases categories

Aliases & Classifications for Megaloblastic Anemia

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Aliases & Descriptions for Megaloblastic Anemia:

Name: Megaloblastic Anemia 10 12
Imerslund-Grasbeck Syndrome 10 45
Anemia, Megaloblastic 65 36
Pernicious Anemia, Juvenile, Due to Selective Intestinal Malabsorption of Vitamin B12, with Proteinuria 45
Megaloblastic Anemia Due to Inborn Errors of Metabolism 65
Selective Cobalamin Malabsorption with Proteinuria 45
Defect of Enterocyte Intrinsic Factor Receptor 45
Recessive Hereditary Megaloblastic Anemia 1 10
Enterocyte Cobalamin Malabsorption 45
 
Familial Megaloblastic Anemia 45
Grasbeck-Imerslund Syndrome 10
Gräsbeck-Imerslund Disease 45
Megaloblastic Anemia 1 45
Anemia Megaloblastic 47
Mga1 Norwegian Type 10
Rh-Mga1 10
Igs 45


Classifications:



External Ids:

Disease Ontology10 DOID:13382
ICD9CM29 281
NCIt42 C34382
MeSH36 D000749

Summaries for Megaloblastic Anemia

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NIH Rare Diseases:45 Imerslund-grasbeck syndrome (igs) is a rare condition characterized by vitamin b12 deficiency, often causing megaloblastic anemia. igs usually appears in childhood. other features may include failure to thrive, infections, and neurological damage. mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. igs is caused by mutations in either the cubn or amn gene and is inherited in an autosomal recessive manner. treatment includes life-long vitamin b12 injections, with which affected individuals can stay healthy for decades. last updated: 1/6/2014

MalaCards based summary: Megaloblastic Anemia, also known as imerslund-grasbeck syndrome, is related to megaloblastic anemia-1, finnish type and congenital intrinsic factor deficiency. An important gene associated with Megaloblastic Anemia is CUBN (Cubilin (Intrinsic Factor-Cobalamin Receptor)), and among its related pathways are Defective MTR causes methylmalonic aciduria and homocystinuria type cblG and Lipoprotein metabolism. The drugs folic acid and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes.

Disease Ontology:10 A macrocytic anemia that is characterized by inhibition of dna synthesis during red blood cell production.

Wikipedia:68 Megaloblastic anemia (or megaloblastic anaemia) is an anemia (of macrocytic classification) that results... more...

Related Diseases for Megaloblastic Anemia

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

(show top 50)    (show all 632)
idRelated DiseaseScoreTop Affiliating Genes
1megaloblastic anemia-1, finnish type31.2AMN, CUBN
2congenital intrinsic factor deficiency30.9MTR, MTRR
33-methylglutaconic aciduria, type i30.5AMN, CUBN
4cblg30.3LMBRD1, MTR, TCN2
5pernicious anemia27.7ABCD1, AMN, CUBN, DHFR, FTCD, GIF
6asthma11.0
7thiamine-responsive megaloblastic anemia syndrome11.0
8hyper ige syndrome11.0
9dermatitis10.9
10atopic dermatitis10.9
11food allergy10.8
12atopy10.7
13rhinitis10.7
14megaloblastic anemia due to dihydrofolate reductase deficiency10.7
15allergic rhinitis10.7
16allergic asthma10.7
17homocystinuria-megaloblastic anemia, cbl e type10.7
18hyper-ige recurrent infection syndrome10.6
19homocystinuria-megaloblastic anemia, cblg complementation type10.6
20homocystinuria10.6
21hyper-ige recurrent infection syndrome, autosomal recessive10.6
22eosinophilia10.6
23aspergillosis10.6
24orotic aciduria10.6
25vitamin b12 deficiency10.6
26allergic bronchopulmonary aspergillosis10.6
27conjunctivitis10.6
28urticaria10.6
29bullous pemphigoid10.5
30drug rash with eosinophilia and systemic symptoms10.5
31egg allergy10.5
32allergic conjunctivitis10.5
33myeloma10.5
34leukemia10.5
35thalassemia10.5
36pancytopenia10.5
37asthma 210.4
38aphthous stomatitis10.4
39stomatitis10.4
40asthma 110.4
41methylmalonic aciduria and homocystinuria, cblf type10.4
42folate malabsorption, hereditary10.4
43scurvy10.4
44glutamate formiminotransferase deficiency10.4
45exercise induced anaphylaxis10.4
46hiv-110.4
47rheumatoid arthritis10.4
48skin disease10.4
49methylmalonic aciduria and homocystinuria, cblc type10.4
50methylmalonic aciduria and homocystinuria, cbld type10.4

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



Diseases related to megaloblastic anemia

Symptoms for Megaloblastic Anemia

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Drugs & Therapeutics for Megaloblastic Anemia

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
HydroxocobalaminapprovedPhase 4, Phase 2, Phase 321713422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
 
Hydro Cobex
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
2
Folic Acidapproved, nutraceuticalPhase 4, Phase 2, Phase 3285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
3
Cyanocobalaminapproved, nutraceuticalPhase 4, Phase 2, Phase 321768-19-944176380, 44176380, 5462245
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
 
Erycytol
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
4Vitamin B ComplexPhase 4, Phase 2, Phase 32775
5Vitamin B 12Phase 4, Phase 2, Phase 3224
6Vitamin B9NutraceuticalPhase 4, Phase 2, Phase 32851
7Vitamin B12NutraceuticalPhase 4, Phase 2, Phase 3217
8
MethylcobalaminNutraceuticalPhase 4, Phase 2, Phase 321713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
9
CobalaminNutraceuticalPhase 4, Phase 2, Phase 321713408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12
10FolateNutraceuticalPhase 4, Phase 2, Phase 32851
11Folinic AcidNutraceuticalPhase 2, Phase 32498

Interventional clinical trials:

idNameStatusNCT IDPhase
1How Many Patients Are in Need of Vitamin B12 Injections?Active, not recruitingNCT00326833Phase 4
2Vitamin B12 Supplementation During PregnancyCompletedNCT01795131Phase 2, Phase 3

Search NIH Clinical Center for Megaloblastic Anemia

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: Anemia, Megaloblastic

Genetic Tests for Megaloblastic Anemia

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Anatomical Context for Megaloblastic Anemia

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MalaCards organs/tissues related to Megaloblastic Anemia:

33
Kidney, Bone, Testes, Bone marrow, Liver, Small intestine, Neutrophil

Animal Models for Megaloblastic Anemia or affiliated genes

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Publications for Megaloblastic Anemia

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Articles related to Megaloblastic Anemia:

(show top 50)    (show all 426)
idTitleAuthorsYear
1
Drug-Induced Megaloblastic Anemia. (26488695)
2015
2
Laboratory testing for cobalamin deficiency in megaloblastic anemia. (23423840)
2013
3
Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. (23289844)
2013
4
Chronic myelogenous leukemia accompanied by megaloblastic anemia showing atypical clinical features. (22185800)
2011
5
Megaloblastic anemia--a rare cause. (21630071)
2011
6
B12 deficient megaloblastic anemia in a toddler with a history of gastroschisis. (20961567)
2011
7
Megaloblastic anemia: back in focus. (20589460)
2010
8
A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children]. (18050048)
2007
9
Folic acid deficiency: main etiological factor of megaloblastic anemia in Kazakhstan? (16680755)
2006
10
Megaloblastic anemia and other causes of macrocytosis. (16988104)
2006
11
Megaloblastic anemia -- Part I. (15226581)
2004
12
Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). (12893755)
2003
13
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. (12590260)
2003
14
Hypocellular myelodysplastic syndrome presenting as megaloblastic anemia. (12476862)
2002
15
Apoptosis in megaloblastic anemia occurs during DNA synthesis by a p53-independent, nucleoside-reversible mechanism. (11050010)
2000
16
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. (10887099)
2000
17
Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. (10074490)
1999
18
Case of the season. Megaloblastic anemia with subacute combined degeneration (SCD) of the spinal cord. (9988857)
1999
19
Clinico-hematological profile of megaloblastic anemia. (9707906)
1998
20
Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. (9856490)
1998
21
Thiamine-Responsive Megaloblastic Anemia Syndrome (20301459)
1993
22
Megaloblastic anemia caused by a congenital deficiency of transcobalamin II]. (2333586)
1990
23
Masked phenytoin-induced megaloblastic anemia in beta-thalassemia minor. (3113162)
1987
24
Selective malabsorption of vitamin B12 and vitamin B12-intrinsic factor with megaloblastic anemia in an adult. (4057272)
1985
25
Possible role of methotrexate in trimethoprim-sulfamethoxazole-induced acute megaloblastic anemia. (6724876)
1984
26
Masked megaloblastic anemia. (7138159)
1982
27
Characteristic abnormality of deoxyribonucleoside triphosphate metabolism in megaloblastic anemia. (7115960)
1982
28
Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II. (7421948)
1980
29
Trichobezoar--an unusual cause of megaloblastic anemia and hypoproteinemia in childhood. (4682019)
1973
30
Megaloblastic anemia after anticonvulsive therapy. (4627864)
1972
31
A case of megaloblastic anemia in the gibbon (Hylobates foolock). (5316973)
1971
32
Granulomatous gastritis associated with megaloblastic anemia. Probable tuberculous etiology. (5284709)
1971
33
Polycythemia following folic acid and vitamin B12 treatment of anticonvulsant-induced megaloblastic anemia. (5472894)
1970
34
Infants of mothers with megaloblastic anemia due to folate deficiency. (5467155)
1970
35
Gastrointestinal causes of megaloblastic anemia. (5671394)
1968
36
Megaloblastic anemia associated with parenchymal hemosiderosis. (5231720)
1967
37
Megaloblastic anemia of pregnancy. (5955950)
1966
38
Megaloblastic anemia. (5912534)
1966
39
Megaloblastic anemia in an adult vegan. (5920497)
1966
40
FOLACIN AND MEGALOBLASTIC ANEMIA. (14107341)
1964
41
Current concepts in therapy. Megaloblastic anemia. (13953900)
1963
42
THE EFFECT OF SMALL DOSES OF FOLIC ACID IN NUTRITIONAL MEGALOBLASTIC ANEMIA. (14101398)
1963
43
Megaloblastic anemia complicating thalassemia major. (13974461)
1963
44
Megaloblastic anemia; an important clue to precise diagnosis. (13922211)
1962
45
Erythrokinetics in the megaloblastic anemia of tropical sprue. (14445727)
1960
46
Megaloblastic anemia associated with diverticula of the small bowel. (13469835)
1957
47
Megaloblastic anemia of pregnancy. (13407781)
1957
48
Megaloblastic anemia of pregnancy. (13124414)
1954
49
Clinical studies with the citrovorum factor in megaloblastic anemia. (13171390)
1954
50
Megaloblastic anemia in infancy. (18899739)
1948

Variations for Megaloblastic Anemia

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Expression for genes affiliated with Megaloblastic Anemia

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Search GEO for disease gene expression data for Megaloblastic Anemia.

Pathways for genes affiliated with Megaloblastic Anemia

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

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0MTR, MTRR
2
Show member pathways
9.5ABCD1, AMN, CUBN
3
Show member pathways
9.3ABCD1, AMN, CUBN, GIF
49.1CUBN, GIF, LMBRD1, SLC19A2, TCN2
5
Pyrimidine metabolism (REACTOME)
Show member pathways
8.9CUBN, GIF, LMBRD1, SLC19A2, TCN2
6
Show member pathways
8.7GIF, MTHFR, MTRR, TCN1
7
Show member pathways
8.2DHFR, FTCD, MTHFR, MTR, MTRR, TCN2
8
Show member pathways
7.9ABCD1, AMN, CUBN, GIF, MMADHC, MTR
9
Show member pathways
7.9ABCD1, AMN, CUBN, GIF, MMADHC, MTR
107.1ABCD1, AMN, CUBN, GIF, LMBRD1, MMADHC
11
Show member pathways
5.5ABCD1, AMN, CUBN, DHFR, GIF, LMBRD1
12
Show member pathways
4.1ABCD1, AMN, CUBN, DHFR, FTCD, GIF

GO Terms for genes affiliated with Megaloblastic Anemia

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:004320210.1CUBN, GIF, TCN2
2cytosolGO:00058296.5ABCD1, CUBN, DHFR, FTCD, MMADHC, MTHFR

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1thiamine-containing compound metabolic processGO:004272310.5SLC19A2, TPK1
2sulfur amino acid metabolic processGO:000009610.4MTR, MTRR
3cobalt ion transportGO:000682410.2GIF, TCN1, TCN2
4axon regenerationGO:003110310.2DHFR, MTR
5methionine metabolic processGO:000655510.0MTHFR, MTRR
6tetrahydrofolate interconversionGO:00359999.9FTCD, MTHFR
7cobalamin transportGO:00158899.7AMN, CUBN, GIF, TCN1, TCN2
8methionine biosynthetic processGO:00090869.7MTHFR, MTR, MTRR
9cellular metabolic processGO:00442379.6FTCD, MT-CO1, MTR
10tetrahydrofolate metabolic processGO:00466539.5DHFR, MTHFR
11folic acid metabolic processGO:00466559.3DHFR, MTHFR, MTRR
12cobalamin metabolic processGO:00092358.2AMN, CUBN, GIF, LMBRD1, MMADHC, MTR
13vitamin metabolic processGO:00067666.3AMN, CUBN, DHFR, GIF, LMBRD1, MMADHC
14water-soluble vitamin metabolic processGO:00067676.3AMN, CUBN, DHFR, GIF, LMBRD1, MMADHC
15small molecule metabolic processGO:00442814.1ABCD1, AMN, CUBN, DHFR, FTCD, GIF

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

idNameGO IDScoreTop Affiliating Genes
1folic acid bindingGO:00055429.8DHFR, FTCD
2NADPH bindingGO:00704029.6DHFR, MTRR
3NADP bindingGO:00506619.1DHFR, MTHFR, MTRR
4cobalamin bindingGO:00314198.8CUBN, GIF, LMBRD1, MTR, TCN1, TCN2

Sources for Megaloblastic Anemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet