Macrocytic Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Macrocytic Anemia

MalaCards integrated aliases for Macrocytic Anemia:

Name: Macrocytic Anemia ¹¹ ²⁸ ⁵ ¹⁴ ⁷⁵

Anemia, Macrocytic ⁴³ ⁷¹

Anemia Macrocytic ¹¹ ⁵³

Macrocytic Anaemia ¹¹

Classifications:

MalaCards categories:
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:2361

MeSH ⁴³ D000748

NCIt ⁴⁹ C34381

SNOMED-CT ⁶⁸ 83414005

UMLS ⁷¹ C0002886

Sources

Summaries for Macrocytic Anemia

MalaCards based summary: Macrocytic Anemia, also known as anemia, macrocytic, is related to diamond-blackfan anemia 10 and anemia, congenital dyserythropoietic, type ib. An important gene associated with Macrocytic Anemia is SFXN4 (Sideroflexin 4), and among its related pathways/superpathways are Metabolism of proteins and Metabolism. The drugs Levoleucovorin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and small intestine, and related phenotypes are Decreased viability and Increased shRNA abundance (Z-score > 2)

Wikipedia: ⁷⁵ The term macrocytic is from Greek words meaning "large cell". A macrocytic class of anemia is an anemia... more...

Sources

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 181)

#	Related Disease	Score	Top Affiliating Genes
1	diamond-blackfan anemia 10	32.2	TSR2 RPS26
2	anemia, congenital dyserythropoietic, type ib	32.1	CDIN1 CDAN1
3	diamond-blackfan anemia 15 with mandibulofacial dysostosis	32.0	TSR2 RPS26
4	anemia, congenital dyserythropoietic, type iiia	31.9	CDIN1 CDAN1
5	diamond-blackfan anemia 1	31.6	RPS26 RPS24 RPS19 RPS17 RPS10 RPL5
6	deficiency anemia	31.3	TCN2 RPS26 RPS19 RPL11 CDAN1 ALAS2
7	diamond-blackfan anemia	29.9	TSR2 TERT RPS29 RPS27 RPS26 RPS24
8	pure red-cell aplasia	29.9	RPS26 RPS24 RPS19 RPS17 RPL5 RPL35A
9	aplastic anemia	29.3	TSR2 TERT RPS26 RPS24 RPS19 RPS17
10	chromosome 5q deletion syndrome	11.8
11	anemia, congenital dyserythropoietic, type ia	11.4
12	combined oxidative phosphorylation deficiency 18	11.3
13	diamond-blackfan anemia 3	11.3
14	megaloblastic anemia	11.3
15	diamond-blackfan anemia 2	11.2
16	diamond-blackfan anemia 4	11.2
17	diamond-blackfan anemia 5	11.2
18	diamond-blackfan anemia 6	11.2
19	diamond-blackfan anemia 7	11.2
20	diamond-blackfan anemia 8	11.2
21	diamond-blackfan anemia 9	11.2
22	diamond-blackfan anemia 11	11.2
23	diamond-blackfan anemia 12	11.2
24	microcytic anemia	11.1
25	overhydrated hereditary stomatocytosis	11.1
26	diamond-blackfan anemia 14 with mandibulofacial dysostosis	11.1
27	vexas syndrome	11.1
28	mitochondrial complex iii deficiency, nuclear type 4	11.1
29	diamond-blackfan anemia 13	11.1
30	diamond-blackfan anemia 16	11.1
31	diamond-blackfan anemia 17	11.1
32	diamond-blackfan anemia 18	11.1
33	diamond-blackfan anemia 19	11.1
34	diamond-blackfan anemia 20	11.1
35	pernicious anemia	10.6
36	vitamin b12 deficiency	10.5
37	myelodysplastic syndrome	10.4
38	celiac disease 1	10.4
39	iron metabolism disease	10.4
40	hypothyroidism	10.3
41	alcohol dependence	10.3
42	alcohol use disorder	10.3
43	hemolytic anemia	10.3
44	thrombocytosis	10.2
45	gastritis	10.2
46	liver cirrhosis	10.2
47	bowen-conradi syndrome	10.2	RPS19 RPL5 RPL11
48	pierre robin syndrome	10.2	RPL26 RPL15 RPL11
49	cartilage-hair hypoplasia	10.2	RPS24 RPS19 RPL5 RPL11
50	acute erythroid leukemia	10.2

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

Sources

Symptoms & Phenotypes for Macrocytic Anemia

GenomeRNAi Phenotypes related to Macrocytic Anemia according to GeneCards Suite gene sharing:

²⁵ (show all 35)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00106-A-0	10.79	RPL5 RPS17 RPS19 RPS29
2	Decreased viability	GR00240-S-1	10.79	RPL15
3	Decreased viability	GR00249-S	10.79	RPS17 RPS19 RPS29 RPL11 RPL27 RPL35A
4	Decreased viability	GR00381-A-1	10.79	RPS19 CDAN1 CDIN1 RPL11 RPL15 RPL27
5	Decreased viability	GR00386-A-1	10.79	RPL5 RPS17 RPS19 RPS29 RPL11 RPL15
6	Decreased viability	GR00402-S-2	10.79	RPL5 RPS17 RPS19 RPS29 CDIN1 RPL11
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-1	10.07	RPS19
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-109	10.07	RPS29
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-118	10.07	RPS29
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-119	10.07	RPS17 RPS19 RPS29
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-129	10.07	RPS29
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-139	10.07	RPS29
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-152	10.07	RPS19
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-160	10.07	RPS29
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-167	10.07	RPS19 RPS29
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-179	10.07	RPS19
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	10.07	RPS19 RPS29
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-19	10.07	RPS29
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-194	10.07	RPS29
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-200	10.07	RPS19
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	10.07	RPS17
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-209	10.07	RPS17 RPS19
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-211	10.07	RPS17
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	10.07	RPS17
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-68	10.07	RPS17
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-81	10.07	RPS29
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-91	10.07	RPS17
28	no effect	GR00402-S-1	10.04	ALAS2 CDAN1 CDIN1 RPL11 RPL15 RPL26
29	no effect	GR00402-S-2	10.04	ALAS2 CDAN1 RPS27 SFXN4 TCN2 TERT
30	S arrest	GR00098-A-2	10	RPL11 RPL27 RPL35A RPS19 RPS24 RPS26
31	Negative genetic interaction between KRASG13D/+ and KRAS+/-	GR00255-A-5	9.86	RPL11 RPL15 RPL27 RPL35A RPS17 RPS19
32	Nuclear 60S biogenesis defects	GR00209-A-3	9.77	RPL11 RPL26 RPL27 RPL35A RPL5
33	HIV Rev nuclear localization	GR00247-A-3	9.5	RPL11 RPL15 RPS24
34	Decreased cell number	GR00303-A	9.46	RPL11 RPL5 RPS19 RPS29
35	Nuclear 40S maturation defects	GR00209-A-2	9.1	RPL11

Sources

Drugs & Therapeutics for Macrocytic Anemia

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

(show all 21)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Levoleucovorin

Approved, Experimental, Investigational

Phase 2

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Synonyms:

(5-formyl-5,6,7,8-tetrahydropteroyl)glutamate

(6R)-Leucovorin

(6R,2'S)-Folinic acid

(6R,S)-5-Formyltetrahydrofolate

(6S)-5-Formyl-5,6,7,8-tetrahydrofolate

(6S)-5-FORMYL-5,6,7,8-TETRAHYDROFOLIC ACID

(6S)-5-Formyltetrahydrofolate

(6S)-5-FORMYLTETRAHYDROFOLIC ACID

(6S)-Folinate

(6S)-FOLINIC ACID

(6S)-LEUCOVORIN

(S)-LEUCOVORIN

[6R]-5-formyl-5,6,7,8-tetrahydrofolate

10-Formyl-7,8-dihydrofolate

10-Formyl-7,8-dihydrofolic acid

5 Formyltetrahydrofolate

5 Formyltetrahydropteroylglutamate

5-Formlyl-5,6,7,8-tetrahydrofolate,calcium salt

5-Formyl-(6S)-tetrahydrofolic acid

5-Formyl-5,6,7,8-tetrahydrofolate

5-Formyl-5,6,7,8-tetrahydrofolic acid

5-Formyl-5,6,7,8-tetrahydropteroyl-L-glutamic acid

5-Formyltetrahydrofolate

5-Formyltetrahydrofolic acid

5-Formyltetrahydropteroylglutamate

5-Formyltetrahydropteroylglutamic acid

5-formylTHF

6 S Leucovorin

6R-Leucovorin

6S Leucovorin

6S-Leucovorin

6-S-Leucovorin

Acid, folinic

Acide folinique

Acido folinico

ácido levofolínico

Calcium citrovorum factor

Calcium folinate

Calcium leucovorin

CF

Citrovorum factor

Dextrofolinic acid

Factor, citrovorum

Folinate

Folinate, calcium

Folinic acid

Folinic acid calcium salt

Folinic acid calcium salt USP27

Folinic acid SF

Folinic acid-SF

FUSILEV

KHAPZORY

Kunyrin

L(-)-5-Formyl-5,6,7,8-tetrahydrofolate

L(-)-5-Formyl-5,6,7,8-tetrahydrofolic acid

Leucal

Leucoverin

Leucovorin

Leucovorin calcium

Leucovorin folinic acid

Leucovorin, (D)-isomer

Leucovorin, (DL)-isomer

Leucovorin, (R)-isomer

Leucovorin, (S)-isomer

Leucovorin, calcium

Leucovorin, calcium (1:1) salt

Leucovorin, calcium (1:1) salt, (DL)-isomer

Leucovorin, calcium (1:1) salt, (S)-isomer

Leucovorin, calcium (1:1) salt, pentahydrate

Leucovorin, monopotassium salt, (S)-isomer

Leucovorin, monosodium salt

Leucovorin, monosodium salt, (S)-isomer

Leucovorinum

Leukovorin

Leukovorum

Levo leucovorin

LEVOFOLENE

Levofolinate

LEVOFOLINIC ACID

Levoleucovorin

Levo-leucovorin

L-Folinate

L-FOLINIC ACID

LFP-754

L-Leucovorin

L-N-[P-[[(2-amino-5-Formyl-5,6,7,8-tetrahydro-4-hydroxy-6-pteridinyl)methyl]amino]benzoyl]-glutamic acid

Monosodium salt leucovorin

N(5)-Formyltetrahydrofolate

N-(5-formyl-5,6,7,8-tetrahydropteroyl)-L-glutamic acid

N-[4-({[(6S)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)benzoyl]-L-glutamate

N-[4-({[(6S)-2-AMINO-5-FORMYL-4-OXO-1,4,5,6,7,8-HEXAHYDROPTERIDIN-6-YL]METHYL}AMINO)BENZOYL]-L-GLUTAMIC ACID

N-{[4-({[(6R)-2-amino-5-formyl-4-oxo-1,4,5,6,7,8-hexahydropteridin-6-yl]methyl}amino)phenyl]carbonyl}-L-glutamic acid

N5-Formyl-5,6,7,8-tetrahydrofolate

N5-Formyl-5,6,7,8-tetrahydrofolic acid

N5-Formyltetrahydrofolate

N5-Formyltetrahydrofolic acid

N5-Formyl-THF

Pteroyl-D-glutamate

Rescuvolin

S Leucovorin

S-Leucovorin

Welcovorin

Wellcovorin

2

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

3

Folate

Phase 2

4

Vitamins

Phase 2

5

Vitamin B9

Phase 2

6

Trace Elements

Phase 2

7

Vitamin B Complex

Phase 2

8

Micronutrients

Phase 2

9

Antidotes

Phase 2

10

Protective Agents

Phase 2

11

Neostigmine

Approved, Vet_approved

59-99-4

4456 5824

12

Ethanol

Approved

64-17-5

702

Synonyms:

[CH2Me(OH)]

[OEtH]

1-Hydroxyethane

ABLYSINOL

Absolute alcohol

Absolute ethanol

Absolute ethyl alcohol

Aethanol

Aethylalkohol

Alcare hand degermer

Alcohol

Alcohol (ethyl)

Alcohol anhydrous

Alcohol denatured

ALCOHOL DETERMINATION--ALCOHOL

Alcohol etilico

Alcohol etílico

Alcohol, absolute

Alcohol, Dehydrated

Alcohol, denatured

ALCOHOL, DILUTED

Alcohol, ethyl

Alcohol, grain

ALCOHOL, RUBBING

Alcohols

Alcool ethylique

Alcool éthylique

Alcool etilico

Algrain

Alkohol

Alkoholu etylowego

Aminoethanol

Anhydrol

Anhydrous alcohol

Anhydrous ethanol

Äthanol

Äthylalkohol

B3324

Beta-Aminoethanol

Beta-Aminoethyl Alcohol

Beta-Ethanolamine

Beta-Hydroxyethylamine

C2H5OH

Caswell No. 426

Colamine

Cologne spirit

Cologne spirits

Dehydrated alcohol

Dehydrated ethanol

Denatured alcohol

Denatured Alcohol Cd-10

Denatured Alcohol Cd-5

Denatured Alcohol Cd-5a

Denatured Alcohol Sd-1

Denatured Alcohol Sd-13a

Denatured Alcohol Sd-17

Denatured Alcohol Sd-23a

Denatured Alcohol Sd-28

Denatured Alcohol Sd-30

Denatured Alcohol Sd-39b

Denatured Alcohol Sd-39c

Denatured Alcohol Sd-3a

Denatured Alcohol Sd-40m

Denatured ethanol

Desinfektol el

Diluted alcohol

Distilled spirits

DRINKING ALCOHOL

E1510

Envision Conditioner Pdd 9020

ETA

Etanol

Etanolo

ETHANOL

éthanol

Ethanol 200 proof

Ethanol Absolute

Ethanol Absolute Bp

Ethanol Anhydrous

Ethanol Extra Pure

Ethanol solution

Ethanol, Silent Spirit

Ethicap

Ethyl alc

Ethyl alcohol

Ethyl Alcohol & Water, 10%

Ethyl Alcohol & Water, 20%

Ethyl Alcohol & Water, 30%

Ethyl Alcohol & Water, 40%

Ethyl Alcohol & Water, 5%

Ethyl Alcohol & Water, 50%

Ethyl Alcohol & Water, 60%

Ethyl Alcohol & Water, 70%

Ethyl Alcohol & Water, 80%

Ethyl Alcohol & Water, 95%

Ethyl Alcohol & Water, 96%

Ethyl alcohol anhydrous

Ethyl alcohol in alcoholic beverages

Ethyl alcohol usp

Ethyl Alcohol, Anhydrous

Ethyl Alcohol, Denatured

Ethyl hydrate

Ethyl hydroxide

Ethylol

Ethylolamine

EtOH

FEMA NO. 2419

Fermentation alcohol

Glycinol

Grain alcohol

Hinetoless

HSDB 531

Hydroxyethane

Infinity pure

Jaysol

Jaysol S

Lux

METHYLATED MINERAL

Methylated Spirit Mineralised

Methylcarbinol

Molasses alcohol

NCI-C03134

NSC-85228

PM-6193-200

Potato alcohol

Punctilious ethyl alcohol

Pyro

Reagent Alcohol

Silent spirit

SPIRIGEL

Spirit

Spirits OF wine

Spiritus vini

Spirt

SURG

Synasol

Tecsol

Tecsol C

Thanol

Thiofaco M-50

Undenatured ethanol

USAF EK-1597

VODKA

13

Glycopyrronium

Approved, Investigational, Vet_approved

596-51-0, 740028-90-4

3494

14

Mecobalamin

Approved, Investigational

13422-55-4

15

Hydroxocobalamin

Approved

13422-51-0

15589840 44475014

16

Cyanocobalamin

Approved, Nutraceutical

68-19-9

24892734 16212801 44176380

17

Cobalamin

Experimental

13408-78-1

6857388

18

Vitamin B12

19

Vitamin B 12

20

Pharmaceutical Solutions

21

Hematinics

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Experimental Treatment of Transfusion Dependent 5q Minus Syndrome With Leucovorin	Completed	NCT00004997	Phase 2	Leucovorin
2	Novel Skin Preparation Approaches for Transdermal Delivery by Iontophoresis of a Low Molecular Weight, Positively Charged Compound (Vitamin B12) to the Systemic Circulation	Completed	NCT04027959

Search NIH Clinical Center for Macrocytic Anemia

Cochrane evidence based reviews: anemia, macrocytic

Sources

Genetic Tests for Macrocytic Anemia

Genetic tests related to Macrocytic Anemia:

#	Genetic test	Affiliating Genes
1	Macrocytic Anemia ²⁸

Sources

Anatomical Context for Macrocytic Anemia

Organs/tissues related to Macrocytic Anemia:

MalaCards : Bone Marrow, Skin, Small Intestine, Liver, Bone, Myeloid, Spinal Cord

Sources

Publications for Macrocytic Anemia

Articles related to Macrocytic Anemia:

(show top 50) (show all 1141)

#	Title	Authors	PMID	Year
1	Ribosomopathies: human disorders of ribosome dysfunction. ⁵³ ⁶²	Narla A...Ebert BL	20194897	2010
2	Combined megaloblastic and immunohemolytic anemia associated--a case report. ⁵³ ⁶²	Vucelic V...Carzavec D	19388472	2008
3	Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia. ⁵³ ⁶²	Cmejlova J...Cmejla R	16531079	2006
4	Impact of HLA-H mutations on iron stores in healthy elderly men and women. ⁵³ ⁶²	Garry PJ...Brodie SG	9410471	1997
5	The molecular basis of the sideroblastic anemias. ⁵³ ⁶²	Fitzsimons EJ...May A	9372069	1996
6	The effects on hematopoiesis of recombinant stem cell factor (ligand for c-kit) administered in vivo to mice either alone or in combination with granulocyte colony-stimulating factor. ⁵³ ⁶²	Molineux G...Dexter TM	1714329	1991
7	Risk factors and prognostic significance of anemia in children with HIV infection on antiretroviral therapy. ⁶²	Lubega J...Scheurer M	36052537	2022
8	Animal models of Diamond-Blackfan anemia: updates and challenges. ⁶²	Liu YL...Sakamoto KM	36384250	2022
9	A cross-sectional clinical study in women to investigate possible genotoxicity and hematological abnormalities related to the use of black cohosh botanical dietary supplements. ⁶²	Smith-Roe SL...Witt KL	36323641	2022
10	Paradigm shift in monogenic autoinflammatory diseases and systemic vasculitis: The VEXAS syndrome. ⁶²	Hernandez-Rodriguez J...Arostegui JI	36049972	2022
11	Thirteen-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2. ⁶²	Naami N...Escherich G	35441393	2022
12	Gata1s mutant mice display persistent defects in the erythroid lineage. ⁶²	Ling T...Crispino JD	36350717	2022
13	[VEXAS gene variants explain previously unrecognized clinical syndrome]. ⁶²	Rasch MNB...Troldborg A	36205150	2022
14	Diagnosis, Treatment and Prevention of Nutritional Anemia in Children: Recommendations of the Joint Committee of Pediatric Hematology-Oncology Chapter and Pediatric and Adolescent Nutrition Society of the Indian Academy of Pediatrics. ⁶²	Chandra J...Kumar RR	36263494	2022
15	A Case of Recurrent Myocarditis after COVID-19 Vaccination due to Acute Myeloid Leukemia. ⁶²	Dobronyi I...Strauss BH	36249914	2022
16	A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities. ⁶²	Cavusoglu D...Aydin K	35680490	2022
17	Mitochondrial electron transport chain complex II dysfunction causes premature aging of hematopoietic stem cells. ⁶²	Harada K...Ando K	36219686	2022
18	Low Frequency of Folate and Vitamin B12 Deficiency in Patients with Marked Macrocytic Anemia. ⁶²	Soffer S...Klang E	35194742	2022
19	Parenteral vs Oral Vitamin B12 in Children With Nutritional Macrocytic Anemia: A Randomized Controlled Trial. ⁶²	Tandon R...Tandon K	35642923	2022
20	Homocystinuria diagnosis and management: it is not all classical. ⁶²	Gerrard A...Dawson C	36123115	2022
21	Copper Deficiency Anemia Due to Low-Calorie, Blended Enteral Diet: Case Report. ⁶²	Mandli S	36089206	2022
22	Acute Exacerbation of Anemia with Parvovirus B19 Infection One Year after Sleeve Gastrectomy for Severe Obesity. ⁶²	Shinzawa T...Aso Y	35135915	2022
23	Magnitude and morphological types of anemia differ by age among under five children: A facility-based study. ⁶²	Omer A...Mulugeta A	36105468	2022
24	A rare combination of acute myeloid leukemia with Vit B12 deficiency: Case report. ⁶²	Kitaz MN...Chammout A	36147083	2022
25	Break down the barriers of auto-inflammation: How to deal with a monogenic auto-inflammatory disease and immuno-haematological features in 2022? ⁶²	Vergneault H...Georgin-Lavialle S	36151885	2022
26	[Two cases of VEXAS syndrome]. ⁶²	Gunnarsson K...Ungerstedt J	36082915	2022
27	A Case of Copper Deficiency in Wilson's Disease with a Normal Zinc Value. ⁶²	Ueda M...Toda T	36047117	2022
28	Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study. ⁶²	Kjaergaard AD...Ellervik C	35225327	2022
29	Blood cytology in children with down syndrome. ⁶²	Garcia de la Puente S...Lopez-Santiago NC	35778676	2022
30	Approach to Pancytopenia in a Deployed Service Member. ⁶²	Gibson SJ...Zeman KG	36425352	2022
31	Isolated psychiatric presentation of cobalamin C type disorder with novel mutation in middle childhood: A case report. ⁶²	Chhajed M...Sharawat IK	35500470	2022
32	Centrosome function is critical during terminal erythroid differentiation. ⁶²	Tatrai P...Gergely F	35678476	2022
33	Prevalence of anemia among reproductive-age females in the Tharu tribe of the Indo-Nepal border region. ⁶²	Singh B...Verma DP	36119223	2022
34	A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge. ⁶²	Ailliet S...Vermeersch P	35464742	2022
35	Clinical and hematological evaluation of geriatric anemia. ⁶²	Krishnamurthy S...Thangavelu S	36119248	2022
36	[Vitamin B12 deficiency in an infant child of a mother with pernicious anemia]. ⁶²	Dapueto G...Garcia L	35857012	2022
37	Vomiting as a Presenting Symptom of Infantile Vitamin B12 Deficiency. ⁶²	Wong S...Rossetti AL	35733471	2022
38	Ablation of Tmcc2 Gene Impairs Erythropoiesis in Mice. ⁶²	Kumari R...Kazmierczak P	35563652	2022
39	[70/m-Hyperchromic, macrocytic anemia : Preparation for the medical specialist examination: part 131]. ⁶²	Finnmann I	35230466	2022
40	De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia. ⁶²	Fedorova D...Smetanina N	35084091	2022
41	Paget's disease of bone and megaloblastic anemia in a 72-year-old patient: A case report and systematic literature review. ⁶²	Oprea VD...Romila A	35251335	2022
42	Unstable hemoglobin Montreal II uncovered in an adult with unexplained hemolysis exacerbated by a presumed viral infection: a case report. ⁶²	Medri C...Angelillo-Scherrer A	35397565	2022
43	Is There An Association Between Vitamin B12 Level and Vitamin D Status in Children? ⁶²	Karabayir N...Pehlivan LS	35319507	2022
44	Hereditary myopathies associated with hematological abnormalities. ⁶²	Beecher G...Liewluck T	34985130	2022
45	A man in his sixties with chondritis and bone marrow failure. ⁶²	Midtvedt O...Tjonnfjord GE	35239266	2022
46	Macrocytic Anaemia: Not Always a Straightforward Diagnosis. ⁶²	Teixeira AM...Manuel M	35444885	2022
47	Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. ⁶²	Kripps KA...Baker PR	34625984	2022
48	A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis. ⁶²	Kao RL...Pearson DR	34864445	2022
49	Atypical Leber hereditary optic neuropathy with a 34-year interval between vision loss in both eyes. ⁶²	Sugiura K...Fukuda K	35112015	2022
50	Clonal cytopenia of undetermined significance and atypical Behçet's: the importance of zinc. ⁶²	Leonard P...Cirillo M	35351745	2022

Sources

Genes for Macrocytic Anemia

Genes related to Macrocytic Anemia (0 elite genes):

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SFXN4	Sideroflexin 4	Protein Coding	32.73	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
2	TERT	Telomerase Reverse Transcriptase	Protein Coding	29.12	Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	RPS19	Ribosomal Protein S19	Protein Coding	25.46	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	16531079 20194897
4	TCN2	Transcobalamin 2	Protein Coding	15.85	DISEASES inferred ¹⁴ GeneCards inferred via : Gene name (show sections)
5	RPL5	Ribosomal Protein L5	Protein Coding	14.56	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
6	RPL11	Ribosomal Protein L11	Protein Coding	14.54	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
7	RPL35A	Ribosomal Protein L35a	Protein Coding	14.53	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
8	RPS24	Ribosomal Protein S24	Protein Coding	14.47	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
9	RPS17	Ribosomal Protein S17	Protein Coding	14.44	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
10	RPS26	Ribosomal Protein S26	Protein Coding	14.17	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
11	CDAN1	Codanin 1	Protein Coding	14.07	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
12	RPS10	Ribosomal Protein S10	Protein Coding	14.07	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
13	RPL26	Ribosomal Protein L26	Protein Coding	13.78	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
14	ALAS2	5'-Aminolevulinate Synthase 2	Protein Coding	13.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9372069
15	TSR2	TSR2 Ribosome Maturation Factor	Protein Coding	13.68	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
16	RPL15	Ribosomal Protein L15	Protein Coding	13.45	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
17	CDIN1	CDAN1 Interacting Nuclease 1	Protein Coding	13.44	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
18	RPS29	Ribosomal Protein S29	Protein Coding	13.14	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
19	RPS27	Ribosomal Protein S27	Protein Coding	12.88	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
20	RPL27	Ribosomal Protein L27	Protein Coding	12.73	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
21	RPS28	Ribosomal Protein S28	Protein Coding	12.68	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
22	RPL18	Ribosomal Protein L18	Protein Coding	12.63	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
23	RPL35	Ribosomal Protein L35	Protein Coding	12.21	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
24	RPS15A	Ribosomal Protein S15a	Protein Coding	12.11	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
25	GAST	Gastrin	Protein Coding	12.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19388472
26	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	11.01	DISEASES inferred ¹⁴ ¹⁴
27	KITLG	KIT Ligand	Protein Coding	10.72	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1714329
28	SLC19A2	Solute Carrier Family 19 Member 2	Protein Coding	8.45	DISEASES inferred ¹⁴
29	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	7.82	DISEASES inferred ¹⁴
30	AMN	Amnion Associated Transmembrane Protein	Protein Coding	7.79	DISEASES inferred ¹⁴
31	RPS14	Ribosomal Protein S14	Protein Coding	7.72	DISEASES inferred ¹⁴
32	CUBN	Cubilin	Protein Coding	7.6	DISEASES inferred ¹⁴

Sources

Variations for Macrocytic Anemia

ClinVar genetic disease variations for Macrocytic Anemia:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TERT	NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)	SNV	Likely Pathogenic	916674	rs1422814635	GRCh37: 5:1264550-1264550 GRCh38: 5:1264435-1264435

Sources

Expression for Macrocytic Anemia

Search GEO for disease gene expression data for Macrocytic Anemia.

Sources

Pathways for Macrocytic Anemia

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

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁶ Show member pathways Post-translational protein modification ⁶⁶	13.87	RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
2	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.74	ALAS2 RPL11 RPL15 RPL26 RPL27 RPL35A
3	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.71	TCN2 RPS29 RPS27 RPS26 RPS24 RPS19
4	Peptide chain elongation ⁶⁶ Show member pathways Amino acids regulate mTORC1 ⁶⁶ Cap-dependent Translation Initiation ⁶⁶ Cellular response to starvation ⁶⁶ CFTR translational fidelity (class I mutations) ²² Cytoplasmic ribosomal proteins ⁷⁴ Defective PAPSS2 causes SEMD-PA ⁶⁶ Eukaryotic Translation Elongation ⁶⁶ Eukaryotic Translation Initiation ⁶⁶ Eukaryotic Translation Termination ⁶⁶ Formation of a pool of free 40S subunits ⁶⁶ GTP hydrolysis and joining of the 60S ribosomal subunit ⁶⁶ L13a-mediated translational silencing of Ceruloplasmin expression ⁶⁶ Metabolism of ingested H2SeO4 and H2SeO3 into H2Se ⁶⁶ Metabolism of ingested MeSeO2H into MeSeH ⁶⁶ Metabolism of ingested SeMet, Sec, MeSec into H2Se ⁶⁶ Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) ⁶⁶ Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) ⁶⁶ Nonsense-Mediated Decay (NMD) ⁶⁶ Response of EIF2AK4 (GCN2) to amino acid deficiency ⁶⁶ Selenoamino acid metabolism ⁶⁶ Selenocysteine synthesis ⁶⁶ SRP-dependent cotranslational protein targeting to membrane ⁶⁶ sulfate activation for sulfonation ⁶¹ Translation ⁶⁶ Viral mRNA Translation ⁶⁶	13.69	RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
5	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.65	RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
6	Cellular responses to stimuli ⁶⁶ Show member pathways Cellular responses to stress ⁶⁶	13.38	RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
7	Processing of Capped Intron-Containing Pre-mRNA ⁶⁶ Show member pathways Metabolism of RNA ⁶⁶ mRNA processing ⁷⁴ mRNA Splicing ⁶⁶ mRNA Splicing - Major Pathway ⁶⁶	13.32	RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
8	SARS-CoV-2 Infection ⁶⁶ Show member pathways SARS-CoV Infections ⁶⁶ SARS-CoV-2 activates/modulates innate and adaptive immune responses ⁶⁶ SARS-CoV-2-host interactions ⁶⁶	13.1	RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
9	Regulation of expression of SLITs and ROBOs ⁶⁶ Show member pathways Metabolism of amino acids and derivatives ⁶⁶ Signaling by ROBO receptors ⁶⁶	12.85	RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
10	SARS-CoV-1-host interactions ⁶⁶ Show member pathways SARS-CoV-1 activates/modulates innate immune responses ⁶⁶ SARS-CoV-1 Infection ⁶⁶ SARS-CoV-1 targets host intracellular signalling and regulatory pathways ⁶⁶	12.52	RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
11	Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S ⁶⁶ Show member pathways Formation of the ternary complex, and subsequently, the 43S complex ⁶⁶ Ribosomal scanning and start codon recognition ⁶⁶ Translation initiation complex formation ⁶⁶	12.36	RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
12	rRNA processing in the nucleus and cytosol ⁶⁶ Show member pathways Major pathway of rRNA processing in the nucleolus and cytosol ⁶⁶ rRNA modification in the nucleus and cytosol ⁶⁶ rRNA processing ⁶⁶	12.25	RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
13	Influenza Infection ⁶⁶ Show member pathways Influenza Viral RNA Transcription and Replication ⁶⁶ Influenza Virus Induced Apoptosis ⁶⁶ vRNP Assembly ⁶⁶	12.24	RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
14	VEGFA-VEGFR2 signaling pathway ⁷⁴	11.91	RPL5 RPL27 RPL26
15	SARS-CoV-2 modulates host translation machinery ⁶⁶ Show member pathways SARS-CoV-1 modulates host translation machinery ⁶⁶	11.75	RPS10 RPS17 RPS19 RPS24 RPS26 RPS27

Sources

GO Terms for Macrocytic Anemia

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	focal adhesion	GO:0005925	10.23	RPS29 RPS19 RPS17 RPS10 RPL5 RPL27
2	ribosome	GO:0005840	10.13	RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3	cytosolic large ribosomal subunit	GO:0022625	10.1	RPL5 RPL35A RPL27 RPL26 RPL15 RPL11
4	cytosolic small ribosomal subunit	GO:0022627	10.1	RPS10 RPS17 RPS19 RPS24 RPS26 RPS27
5	synapse	GO:0045202	10.04	RPS24 RPS17 RPL35A RPL27 RPL26 RPL15
6	polysomal ribosome	GO:0042788	9.91	RPS29 RPS26 RPL11
7	ribonucleoprotein complex	GO:1990904	9.89	RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
8	small ribosomal subunit	GO:0015935	9.88	RPS24 RPS26 RPS29
9	cytoplasmic side of rough endoplasmic reticulum membrane	GO:0098556	9.85	RPS29 RPS26 RPL27
10	cytosolic ribosome	GO:0022626	9.66	RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
11	rough endoplasmic reticulum	GO:0005791	9.65	RPS29 RPS26 RPL27

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	rRNA processing	GO:0006364	10.13	RPL11 RPL26 RPL27 RPL35A RPL5 RPS17
2	cytoplasmic translation	GO:0002181	10.07	RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
3	erythrocyte differentiation	GO:0030218	9.88	RPS19 CDIN1 ALAS2
4	ribosomal large subunit biogenesis	GO:0042273	9.86	RPL5 RPL35A RPL26 RPL11
5	negative regulation of ubiquitin-dependent protein catabolic process	GO:2000059	9.8	RPL5 RPL11
6	ribosomal small subunit biogenesis	GO:0042274	9.8	RPS24 RPS19 RPS17
7	ribosomal small subunit assembly	GO:0000028	9.78	RPS27 RPS19
8	negative regulation of ubiquitin protein ligase activity	GO:1904667	9.76	RPL5 RPL11
9	translation	GO:0006412	9.74	RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
10	erythrocyte homeostasis	GO:0034101	9.73	RPS24 RPS17
11	negative regulation of protein neddylation	GO:2000435	9.67	RPL11 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	10.09	RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
2	structural constituent of ribosome	GO:0003735	9.74	RPS29 RPS27 RPS26 RPS24 RPS19 RPS17
3	5S rRNA binding	GO:0008097	9.56	RPL5 RPL11
4	ubiquitin ligase inhibitor activity	GO:1990948	9.46	RPL5 RPL11

Sources

Sources for Macrocytic Anemia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MCR017 MIFTS: 44	Macrocytic Anemia Categories: Blood diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Drugs Expand all tables