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MCID: PRN011
MIFTS: 51

Pernicious Anemia

Categories: Metabolic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pernicious Anemia

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MalaCards integrated aliases for Pernicious Anemia:

Name: Pernicious Anemia 57 12 75 53 15 63 17
Anemia, Pernicious 75 44 72
Anemia Pernicious 12 55
Juvenile Onset Pernicious Anemia 53
Acquired Pernicious Anemia 53
Addison-Biermer Anemia 53
Addison's Anaemia 12
Addisonian Anemia 53
Biermer's Disease 53
Biermer's Anemia 12
Biermer Anemia 53

Characteristics:

OMIM:

57
Inheritance:
? autosomal dominant


HPO:

32
pernicious anemia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:13381
OMIM 57 170900
ICD9CM 35 281.0
MeSH 44 D000752
NCIt 50 C2871
SNOMED-CT 68 84027009
ICD10 33 D51.0
MedGen 42 C0002892
UMLS 72 C0002892
Sources

Summaries for Pernicious Anemia

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PubMed Health : 63 About pernicious anemia: Pernicious anemia (per-NISH-us uh-NEE-me-uh) is a condition in which the body can't make enough healthy red blood cells because it doesn't have enough vitamin B12. Vitamin B12 is a nutrient found in some foods. The body needs this nutrient to make healthy red blood cells and to keep its nervous system working properly. People who have pernicious anemia can't absorb enough vitamin B12 from food. This is because they lack intrinsic (in-TRIN-sik) factor, a protein made in the stomach. A lack of this protein leads to vitamin B12 deficiency. Other conditions and factors also can cause vitamin B12 deficiency. Examples include infections, surgery, medicines, and diet. Technically, the term "pernicious anemia" refers to vitamin B12 deficiency due to a lack of intrinsic factor. Often though, vitamin B12 deficiency due to other causes also is called pernicious anemia. This article discusses pernicious anemia due to a lack of intrinsic factor and other causes.

MalaCards based summary : Pernicious Anemia, also known as anemia, pernicious, is related to intrinsic factor deficiency and diphyllobothriasis, and has symptoms including fatigue An important gene associated with Pernicious Anemia is CBLIF (Cobalamin Binding Intrinsic Factor), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Selenium Micronutrient Network. The drugs Methylcobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and bone marrow, and related phenotypes are megaloblastic anemia and malabsorption of vitamin b12

Disease Ontology : 12 A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has material basis in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.

NIH Rare Diseases : 53 Biermer's disease, also called acquired pernicious anemia, is a condition in which the body is unable to properly utilize vitamin B12. Because vitamin B12 is essential for the formation of red blood cells, this condition is primarily characterized by anemia (too few red blood cells). Affected people may also experience gastrointestinal issues and neurological abnormalities (such as paresthesia, weakness, and clumsiness). Biermer's disease and other forms of pernicious anemia are thought to be autoimmune conditions which occur when the body's immune system mistakenly attacks healthy tissue. Treatment generally consists of large doses of vitamin B12, usually as an injection.

Wikipedia : 75 Vitamin B12 deficiency anemia, of which pernicious anemia is a type, is a disease in which not enough... more...

More information from OMIM: 170900
Sources

Related Diseases for Pernicious Anemia

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

(show top 50) (show all 401)
# Related Disease Score Top Affiliating Genes
1 intrinsic factor deficiency 34.4 FUT2 CBLIF
2 diphyllobothriasis 33.0 GAST CBLIF
3 atrophic gastritis 31.5 SST GAST
4 vitamin b12 deficiency 30.9 TCN2 TCN1
5 thyroiditis 30.8 TPO TG
6 autoimmune disease 30.7 TPO TG AIRE
7 zollinger-ellison syndrome 30.7 SST GAST
8 granulomatous gastritis 30.5 GAST CBLIF
9 graves disease 1 30.5 TPO TG
10 duodenal ulcer 30.4 SST GAST
11 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.3 TPO TG AIRE
12 hypothyroidism 30.3 TPO TG AIRE
13 megaloblastic anemia 30.3 TCN2 TCN1 CBLIF
14 gastrinoma 30.2 SST GAST
15 myxedema 30.2 TPO TG
16 goiter 30.2 TPO TG
17 gastric neuroendocrine neoplasm 30.1 SST GAST CBLIF
18 hypoadrenocorticism, familial 30.1 TPO AIRE
19 pancreas disease 30.0 SST GAST
20 hashimoto thyroiditis 29.9 TPO TG AIRE
21 hyperthyroidism 29.8 TPO TG SST
22 thyroid gland disease 29.8 TPO TG SST
23 celiac disease 1 29.1 TPO TG
24 diabetes mellitus, insulin-dependent 28.8 TPO TG SST AIRE
25 megaloblastic anemia 1 12.3
26 gastritis 11.7
27 congenital intrinsic factor deficiency 11.7
28 vitiligo-associated multiple autoimmune disease susceptibility 1 11.6
29 autoimmune atrophic gastritis 11.6
30 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.6
31 deficiency anemia 11.5
32 stiff-person syndrome 11.4
33 autoimmune polyglandular syndrome type 3 11.4
34 anemia, congenital dyserythropoietic, type iii 11.3
35 vitamin b12 plasma level quantitative trait locus 1 11.3
36 autoimmune oophoritis 11.3
37 macrocytic anemia 10.6
38 gastric cancer 10.6
39 polycythemia 10.5
40 iron metabolism disease 10.5
41 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
42 hemolytic anemia 10.5
43 diabetes mellitus 10.5
44 autoimmune gastritis 10.5
45 agammaglobulinemia 10.5
46 thalassemia 10.4
47 leukemia 10.4
48 polycythemia vera 10.4
49 homocysteinemia 10.4
50 type 1 diabetes mellitus 5 10.4 FUT2 AIRE

Comorbidity relations with Pernicious Anemia via Phenotypic Disease Network (PDN): (show all 15)


Active Peptic Ulcer Disease Acute Cystitis
Alzheimer Disease Bronchitis
Decubitus Ulcer Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypothyroidism Iron Deficiency Anemia
Osteoporosis Parkinson Disease, Late-Onset
Protein-Energy Malnutrition Schizophreniform Disorder
Transient Cerebral Ischemia

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



Diseases related to Pernicious Anemia
Sources

Symptoms & Phenotypes for Pernicious Anemia

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Human phenotypes related to Pernicious Anemia:

32
# Description HPO Frequency HPO Source Accession
1 megaloblastic anemia 32 HP:0001889
2 malabsorption of vitamin b12 32 HP:0200118

Symptoms via clinical synopsis from OMIM:

57
Heme:
pernicious anemia

Lab:
decreased oral absorption of cobalt-60 labeled vitamin b12

Clinical features from OMIM:

170900

Symptoms:

12
  • • fatigue

MGI Mouse Phenotypes related to Pernicious Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.35 AIRE FUT2 GAST SST TG
2 immune system MP:0005387 9.17 AIRE CBLIF FUT2 GAST SST TG
Sources

Drugs & Therapeutics for Pernicious Anemia

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PubMed Health treatment related to Pernicious Anemia: 63

Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia may need lifelong treatment. The goals of treating pernicious anemia include: Preventing or treating the anemia and its signs and symptomsPreventing or managing complications, such as heart and nerve damageTreating the cause of the pernicious anemia (if a cause can be found)

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Experimental, Investigational Phase 4 13422-55-4
2
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
5
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
6
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
7
Cobalamin Experimental Phase 4 13408-78-1 6857388
8 Trace Elements Phase 4
9 Micronutrients Phase 4
10 Vitamins Phase 4
11 Folate Phase 4
12 Vitamin B 12 Phase 4
13 Vitamin B 6 Phase 4
14 Hematinics Phase 4
15 Vitamin B9 Phase 4
16 Vitamin B Complex Phase 4
17 Nutrients Phase 4
18 Vitamin B12 Phase 4
19 Thiamin Phase 4
20
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050
21
leucovorin Approved Phase 3 58-05-9 143 6006
22
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
23 Analgesics, Non-Narcotic Phase 2
24 Angiogenesis Inhibitors Phase 2
25 Peripheral Nervous System Agents Phase 2
26 Anti-Inflammatory Agents, Non-Steroidal Phase 2
27 Angiogenesis Modulating Agents Phase 2
28 Analgesics Phase 2
29 Anti-Infective Agents Phase 2
30 Anti-Bacterial Agents Phase 2
31 Immunosuppressive Agents Phase 2
32 Anti-Inflammatory Agents Phase 2
33 Immunologic Factors Phase 2
34 Antirheumatic Agents Phase 2
35
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
36 Proton Pump Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Megadose of Hydroxocobalamin (Vitamin B12) for the Treatment of Pernicious Anemia Recruiting NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
2 A Randomised Double Blind Study of the Effects of Homocysteine Lowering Therapy on Mortality and Cardiac Events in Patients Undergoing Coronary Angiography Completed NCT00354081 Phase 3 folic acid, vitamin B12 (cyanocobalamin), vitamin B6 (pyridoxine);folic acid, vitamin B12 (cyanocobalamin);vitamin B6 (pyridoxine);placebo
3 Effect of Oral Vitamin B12 Administration for Vitamin B12 Deficiency After Total Gastrectomy Completed NCT00699478 Phase 2 mecobalamin
4 A Split Body Study of the Effects of Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Active, not recruiting NCT03123016 Phase 2 Apremilast
5 Long-term Use of Proton Pump Inhibitors May Cause Vitamin B12 Deficiency in the Institutionalized Elderly Completed NCT00843453 treatment (cyanocobalamin nasal spray)
6 Evaluation of Holotranscobalamin as an Indicator of Vitamin B12 Absorption Completed NCT00235573
7 Screening for Gastric Cancer in High-risk Population Completed NCT00815113
8 Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Recruiting NCT03941184

Search NIH Clinical Center for Pernicious Anemia

Inferred drug relations via UMLS 72 / NDF-RT 51 :


COBALAMIN CONCENTRATE
Cyanocobalamin
Ferrous cysteine glycinate
Hydroxocobalamin
Hydroxocobalamin
HYDROXOCOBALAMIN ACETATE
mecobalamin
NADH
Pyridoxal phosphate
Vitamin B 12

Cochrane evidence based reviews: anemia, pernicious

Sources

Genetic Tests for Pernicious Anemia

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Sources

Anatomical Context for Pernicious Anemia

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MalaCards organs/tissues related to Pernicious Anemia:

41
Liver, Bone, Bone Marrow, Testes, Thyroid, Skin, Tongue
Sources

Publications for Pernicious Anemia

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Articles related to Pernicious Anemia:

(show top 50) (show all 2776)
# Title Authors PMID Year
1
Racial patterns in pernicious anemia. Early age at onset and increased frequency of intrinsic-factor antibody in black women. 38 8
628388 1978
2
Genetic and auto-immune features of pernicious anemia. I. Unreliability of the Schilling test in detecting genetic predisposition to the disease. 38 8
5648177 1968
3
Genetic factors in predisposition to pernicious anemia. 38 8
13662715 1959
4
A family study of pernicious anaemia. II. Intrinsic factor secretion, vitamin B12 absorption and genetic aspects of gastric autoimmunity. 8
5635601 1968
5
A famiy study of pernicious anaemia. I. Autoantibodies, achlorhydria, serum pepsinogen and vitamin B12. 8
4865547 1968
6
Correspondence (letter to the editor): Gastrin levels in pernicious anemia. 9 38
19547631 2009
7
Combined megaloblastic and immunohemolytic anemia associated--a case report. 9 38
19388472 2008
8
Production, secretion, and biological activity of the C-terminal flanking peptide of human progastrin. 9 38
17101322 2006
9
Long-term effects of elevated gastrin levels on calcitonin secretion. 9 38
17114906 2006
10
Histomorphological characteristics of gastric mucosa in patients with Zollinger-Ellison syndrome or autoimmune gastric atrophy: role of gastrin and atrophying gastritis. 9 38
10738314 2000
11
Gastrin biosynthesis in the antrum of patients with pernicious anemia. 9 38
9041234 1997
12
[Combined endocrine autoimmune syndrome--incidence, forms of manifestation and clinical significance]. 9 38
7973530 1994
13
Bispecific thyroglobulin and thyroperoxidase autoantibodies in patients with various thyroid and autoimmune diseases. 9 38
7962336 1994
14
Reciprocal changes in antral gastrin and somatostatin mRNA in pernicious anemia. 9 38
7906222 1994
15
Rapid regression of enterochromaffinlike cell gastric carcinoids in pernicious anemia after antrectomy. 9 38
1551550 1992
16
24-hour intragastric acidity and plasma gastrin after omeprazole treatment and after proximal gastric vagotomy in duodenal ulcer patients. 9 38
2227275 1990
17
Absence of a gastrin inhibitory factor in the IgG fraction of serum from patients with pernicious anaemia. 9 38
2387508 1990
18
Androgen deprivation therapy for prostate cancer and the risk of autoimmune diseases. 38
30692587 2019
19
Development and future prospects of selective organometallic compounds as anticancer drug candidates exhibiting novel modes of action. 38
31096151 2019
20
Autoimmune Diseases and Gastric Cancer Risk: A Systematic Review and Meta-Analysis. 38
31048663 2019
21
Comorbid Diseases of Vitiligo: A ten-year cross-sectional retrospective study of an urban United States population. 38
31325552 2019
22
Pleural extramedullary hematopoiesis due to severe pernicious anemia. 38
30503069 2019
23
Hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with macrocytosis. 38
31324439 2019
24
A Rare Cause of Pancytopenia in an Exclusively Breastfed Infant. 38
30028821 2019
25
High Prevalence of Autoimmune Gastritis in Patients with Nonalcoholic Steatohepatitis. 38
31292380 2019
26
False elevations of vitamin B12 levels due to assay errors in a patient with pernicious anemia. 38
31309095 2019
27
Pernicious Anemia Presenting as Non-ST-elevated Myocardial Infarction and Depression. 38
31417815 2019
28
Lack of historical evidence to support folic acid exacerbation of the neuropathy caused by vitamin B12 deficiency. 38
31187858 2019
29
Gastric parietal cell and thyroid autoantibodies in patients with atrophic glossitis. 38
30736997 2019
30
Insights Into Pediatric Autoimmune Gastritis: Is There a Role for Helicobacter pylori Infection? 38
30664567 2019
31
Autoimmune Diseases and Rosai-Dorfman Disease Coexist More Commonly than Expected: Two Case Reports. 38
31147530 2019
32
Transfer of peanut allergy from donor to recipient after liver transplant. 38
31031165 2019
33
Toxicity induced by multiple high doses of vitamin B12 during pernicious anemia treatment: a case report. 38
31018715 2019
34
Intrinsic factor recognition promotes T helper 17/T helper 1 autoimmune gastric inflammation in patients with pernicious anemia. 38
31080562 2019
35
The changing face of chronic autoimmune atrophic gastritis: an updated comprehensive perspective. 38
30639639 2019
36
Type 1 Gastric Neuroendocrine Tumor Found on Endoscopic Polypectomy. 38
31106093 2019
37
Macropolycyte in Pediatrics. 38
30475299 2019
38
Associated auto-immune disease in type 1 diabetes patients: a systematic review and meta-analysis. 38
30508413 2019
39
Anemia, hematinic deficiencies, and hyperhomocysteinemia in gastric parietal cell antibody-positive and -negative atrophic glossitis patients. 38
30581105 2019
40
Late-Onset T1DM and Older Age Predict Risk of Additional Autoimmune Disease. 38
30361208 2019
41
Associations Between Non-neurological Autoimmune Disorders and Psychosis: A Meta-analysis. 38
30122288 2019
42
Pernicious anemia: a myelodysplastic syndrome look-alike. 38
31258865 2019
43
[A Case of Advanced Cardia Gastric Cancer with Pernicious Anemia]. 38
30765662 2019
44
Subacute Combined Degeneration, Pernicious Anemia and Gastric Neuroendocrine Tumor Occured Simultaneously Caused by Autoimmune Gastritis. 38
30740042 2019
45
Measurement of Autoantibodies to Gastric H+,K+-ATPase (ATP4A/B) Using a Luciferase Immunoprecipitation System (LIPS). 38
30539573 2019
46
Severe Vitamin B12 Deficiency in Pregnancy Mimicking HELLP Syndrome. 38
31019819 2019
47
The incidence of neoplasia in patients with autoimmune metaplastic atrophic gastritis: a renewed call for surveillance. 38
30598594 2019
48
Biomarkers of Nutrition for Development (BOND): Vitamin B-12 Review. 38
30500928 2018
49
Significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in atrophic glossitis patients. 38
30087017 2018
50
An Efficient Ensemble Learning Approach for Predicting Protein-Protein Interactions by Integrating Protein Primary Sequence and Evolutionary Information. 38
30475726 2018
Sources

Variations for Pernicious Anemia

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Expression for Pernicious Anemia

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Search GEO for disease gene expression data for Pernicious Anemia.
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Pathways for Pernicious Anemia

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

# Super pathways Score Top Affiliating Genes
1
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.15 TCN2 TCN1 CBLIF
2
Selenium Micronutrient Network 1
Show member pathways
 11.83 TCN2 TCN1 CBLIF
3
Vitamin digestion and absorption 37
10.64 TCN2 CBLIF
4
Cobalamin (Cbl, vitamin B12) transport and metabolism 66
10.12 TCN2 TCN1 CBLIF
5
Gastric acid production 1
10 GAST CBLIF
6
Thyroxine (Thyroid Hormone) Production 1
9.73 TPO TG
Sources

GO Terms for Pernicious Anemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 TG TCN2 TCN1 SST GAST CBLIF
2 extracellular space GO:0005615 9.1 TPO TCN2 TCN1 SST GAST CBLIF

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 9.33 TCN2 TCN1 CBLIF
2 hormone biosynthetic process GO:0042446 9.26 TPO TG
3 cobalamin transport GO:0015889 9.13 TCN2 TCN1 CBLIF
4 cobalt ion transport GO:0006824 8.8 TCN2 TCN1 CBLIF

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 TG SST GAST
2 cobalamin binding GO:0031419 8.8 TCN2 TCN1 CBLIF
Sources

Sources for Pernicious Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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