MCID: PRN011
MIFTS: 53

Pernicious Anemia

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Pernicious Anemia

MalaCards integrated aliases for Pernicious Anemia:

Name: Pernicious Anemia 56 12 74 52 15 62 17
Anemia, Pernicious 74 43 71
Anemia Pernicious 12 54
Juvenile Onset Pernicious Anemia 52
Acquired Pernicious Anemia 52
Addison-Biermer Anemia 52
Pernicious Anaemia 12
Addison's Anaemia 12
Biermer's Anaemia 12
Addisonian Anemia 52
Biermer's Disease 52
Biermer's Anemia 12
Biermer Anemia 52

Characteristics:

OMIM:

56
Inheritance:
? autosomal dominant


HPO:

31
pernicious anemia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13381
OMIM 56 170900
ICD9CM 34 281.0
MeSH 43 D000752
NCIt 49 C2871
SNOMED-CT 67 84027009
ICD10 32 D51.0
MedGen 41 C0002892
SNOMED-CT via HPO 68 263681008 53165003
UMLS 71 C0002892

Summaries for Pernicious Anemia

PubMed Health : 62 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 congenital intrinsic factor deficiency, 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 Folate Metabolism and Diseases of metabolism. The drugs Thiamine and Thiamin 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 : 52 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 : 74 Vitamin B12 deficiency anemia, of which pernicious anemia (PA) is a type, is a disease in which not... more...

More information from OMIM: 170900

Related Diseases for Pernicious Anemia

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

(show top 50) (show all 553)
# Related Disease Score Top Affiliating Genes
1 intrinsic factor deficiency 34.6 FUT2 CBLIF
2 congenital intrinsic factor deficiency 33.1 TCN2 CBLIF CBL
3 autoimmune atrophic gastritis 33.1 GAST CHGA
4 megaloblastic anemia 32.6 TCN2 TCN1 MTR CBLIF CBL
5 hyperthyroidism 32.6 TPO TG SST
6 vitiligo-associated multiple autoimmune disease susceptibility 1 32.5 TPO PTPN22 CCR6 AIRE
7 gastritis 32.5 SST GAST CHGA CCR6 ATP4A
8 deficiency anemia 32.4 CBLIF CBL ATP4A ATP12A
9 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.2 GAD2 AIRE
10 atrophic gastritis 31.7 SST GAST CHGA
11 macrocytic anemia 31.2 TCN2 MTR GAST CBLIF
12 thyroiditis 30.9 TPO TG PTPN22
13 microinvasive gastric cancer 30.8 GAST ATP4A ATP12A
14 hypoparathyroidism 30.7 TPO PTPN22 AIRE
15 glossitis 30.7 TCN2 CBLIF ATP4A ATP12A
16 thyroid gland disease 30.7 TPO TG SST CCR6
17 goiter 30.7 TPO TG SST
18 autoimmune gastritis 30.6 GAST CCR6 CBLIF ATP4A ATP12A AIRE
19 hernia, hiatus 30.5 GAST ATP4A ATP12A
20 peptic ulcer disease 30.5 SST GAST ATP4A ATP12A
21 autoimmune disease 30.4 TPO TG PTPN22 GAD2 CCR6 AIRE
22 carcinoid tumors, intestinal 30.4 SST GAST CHGA
23 duodenitis 30.4 GAST ATP4A ATP12A
24 cutaneous candidiasis 30.4 NUDT10 CCR6 AIRE
25 bile reflux 30.3 GAST ATP4A ATP12A
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.3 TPO TG PTPN22 GAD2 AIRE
27 thymoma 30.3 TG SST PTPN22 AIRE
28 hashimoto thyroiditis 30.3 TPO TG PTPN22 AIRE
29 neuroendocrine tumor 30.3 SST GAST CHGA ATP4A
30 gastric neuroendocrine neoplasm 30.3 SST GAST CHGA CBLIF
31 exanthem 30.3 CCR6 ATP4A ATP12A
32 gastrinoma 30.2 SST GAST CHGA
33 tropical sprue 30.2 TCN1 GAST CBLIF ATP4A ATP12A
34 carcinoid syndrome 30.2 SST CHGA
35 granulomatous gastritis 30.2 GAST CBLIF ATP4A ATP12A
36 gastric antral vascular ectasia 30.2 SST GAST ATP4A ATP12A
37 islet cell tumor 30.2 SST GAST CHGA
38 esophageal candidiasis 30.1 CCR6 ATP4A ATP12A AIRE
39 zollinger-ellison syndrome 30.1 SST GAST CHGA ATP4A ATP12A
40 lymphocytic colitis 30.1 CHGA ATP4A ATP12A
41 hypothyroidism 30.0 TPO TG SST PTPN22 LEPQTL1 ATP4A
42 graves' disease 30.0 TPO TG PTPN22 GAD2 AIRE
43 alopecia areata 30.0 TPO PTPN22 AIRE
44 chronic mucocutaneous candidiasis 29.9 PTPN22 CCR6 AIRE
45 methylmalonic acidemia 29.9 TCN2 MTR MMD CBLIF CBL
46 vitamin b12 deficiency 29.8 TCN2 TCN1 MTR MMD GAST CBLIF
47 homocystinuria 29.8 TCN2 MTR MMD CBLIF
48 autoimmune polyendocrine syndrome 29.8 TPO TG GAD2 CCR6 AIRE
49 neural tube defects 29.8 TCN2 TCN1 MTR FUT2 CBLIF
50 hypoadrenocorticism, familial 29.6 TPO TG PTPN22 CCR6 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

Symptoms & Phenotypes for Pernicious Anemia

Human phenotypes related to Pernicious Anemia:

31
# Description HPO Frequency HPO Source Accession
1 megaloblastic anemia 31 HP:0001889
2 malabsorption of vitamin b12 31 HP:0200118

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.91 AIRE ATP12A ATP4A FUT2 GAD2 GAST
2 endocrine/exocrine gland MP:0005379 9.81 AIRE ATP4A CBL CHGA GAD2 GAST
3 homeostasis/metabolism MP:0005376 9.8 AIRE ATP12A ATP4A CBL CBLIF CCR6
4 immune system MP:0005387 9.4 AIRE ATP4A CBL CBLIF CCR6 FUT2

Drugs & Therapeutics for Pernicious Anemia

PubMed Health treatment related to Pernicious Anemia: 62

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 symptoms Preventing or managing complications, such as heart and nerve damage Treating 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 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
2 Thiamin Phase 4
3
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
4
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
5
leucovorin Approved Phase 3 58-05-9 6006 143
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
7
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
8
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
9
Cobalamin Experimental Phase 3 13408-78-1 6857388
10 Micronutrients Phase 3
11 Trace Elements Phase 3
12 Vitamins Phase 3
13 Vitamin B 6 Phase 3
14 Vitamin B Complex Phase 3
15 Vitamin B 12 Phase 3
16 Hematinics Phase 3
17 Nutrients Phase 3
18 Folate Phase 3
19 Vitamin B12 Phase 3
20 Vitamin B9 Phase 3
21
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
22
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
23 Analgesics, Non-Narcotic Phase 2
24 Analgesics Phase 2
25 Anti-Inflammatory Agents Phase 2
26 Antirheumatic Agents Phase 2
27 Anti-Inflammatory Agents, Non-Steroidal Phase 2
28
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
29 Proton Pump Inhibitors

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Megadose of Hydroxocobalamin (Vitamin B12) for the Treatment of Pernicious Anemia Unknown status 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 Completed NCT03123016 Phase 2 Apremilast
5 Risk Factors of Incidence of Hypothyroidism in Patients With Type 1 Diabetes Unknown status NCT03257566
6 Diagnostics and Therapy of a Cobalamin Deficiency Completed NCT04243707
7 Long-term Use of Proton Pump Inhibitors May Cause Vitamin B12 Deficiency in the Institutionalized Elderly Completed NCT00843453 treatment (cyanocobalamin nasal spray)
8 Evaluation of Holotranscobalamin as an Indicator of Vitamin B12 Absorption Completed NCT00235573
9 Screening for Gastric Cancer in High-risk Population Completed NCT00815113
10 Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Recruiting NCT03941184
11 The Epidemiology, Management, and the Associated Burden of Mental Health, Atopic and Autoimmune Conditions in Alopecia Areata Not yet recruiting NCT04239521

Search NIH Clinical Center for Pernicious Anemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


COBALAMIN CONCENTRATE
Hydroxocobalamin
HYDROXOCOBALAMIN ACETATE
mecobalamin
Vitamin B 12

Cochrane evidence based reviews: anemia, pernicious

Genetic Tests for Pernicious Anemia

Anatomical Context for Pernicious Anemia

MalaCards organs/tissues related to Pernicious Anemia:

40
Liver, Bone, Bone Marrow, Testes, Thyroid, Skin, Tongue

Publications for Pernicious Anemia

Articles related to Pernicious Anemia:

(show top 50) (show all 2814)
# Title Authors PMID Year
1
Racial patterns in pernicious anemia. Early age at onset and increased frequency of intrinsic-factor antibody in black women. 56 61
628388 1978
2
Genetic and auto-immune features of pernicious anemia. I. Unreliability of the Schilling test in detecting genetic predisposition to the disease. 61 56
5648177 1968
3
Genetic factors in predisposition to pernicious anemia. 61 56
13662715 1959
4
A family study of pernicious anaemia. II. Intrinsic factor secretion, vitamin B12 absorption and genetic aspects of gastric autoimmunity. 56
5635601 1968
5
A famiy study of pernicious anaemia. I. Autoantibodies, achlorhydria, serum pepsinogen and vitamin B12. 56
4865547 1968
6
Correspondence (letter to the editor): Gastrin levels in pernicious anemia. 54 61
19547631 2009
7
Combined megaloblastic and immunohemolytic anemia associated--a case report. 61 54
19388472 2008
8
Production, secretion, and biological activity of the C-terminal flanking peptide of human progastrin. 54 61
17101322 2006
9
Long-term effects of elevated gastrin levels on calcitonin secretion. 54 61
17114906 2006
10
Histomorphological characteristics of gastric mucosa in patients with Zollinger-Ellison syndrome or autoimmune gastric atrophy: role of gastrin and atrophying gastritis. 54 61
10738314 2000
11
Gastrin biosynthesis in the antrum of patients with pernicious anemia. 61 54
9041234 1997
12
[Combined endocrine autoimmune syndrome--incidence, forms of manifestation and clinical significance]. 61 54
7973530 1994
13
Bispecific thyroglobulin and thyroperoxidase autoantibodies in patients with various thyroid and autoimmune diseases. 54 61
7962336 1994
14
Reciprocal changes in antral gastrin and somatostatin mRNA in pernicious anemia. 61 54
7906222 1994
15
Rapid regression of enterochromaffinlike cell gastric carcinoids in pernicious anemia after antrectomy. 54 61
1551550 1992
16
24-hour intragastric acidity and plasma gastrin after omeprazole treatment and after proximal gastric vagotomy in duodenal ulcer patients. 54 61
2227275 1990
17
Absence of a gastrin inhibitory factor in the IgG fraction of serum from patients with pernicious anaemia. 61 54
2387508 1990
18
Nutritional neuropathies. 61
31837157 2020
19
Grave and Pernicious Anemia Presenting as Pancytopenia. 61
31862332 2020
20
Multifocal early gastric cancer in a patient with atrophic gastritis and pernicious anemia. 61
32563836 2020
21
Predictive risk factors for autoimmune thyroid diseases in patients with pernicious anemia. 61
31780218 2020
22
Scleredema of Buschke associated with lichen sclerosus: Three cases. 61
30289118 2020
23
Pernicious anemia. 61
32379881 2020
24
Pernicious anemia presenting as glossitis. 61
32312826 2020
25
Rare anterior funiculus lesions in subacute combined degeneration of the spinal cord: a case report and literature review. 61
31675909 2020
26
Anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in 884 patients with burning mouth syndrome. 61
31679908 2020
27
Comorbid diseases of vitiligo: A 10-year cross-sectional retrospective study of an urban US population. 61
31325552 2020
28
Helicobacter pylori testing in a population of Korean patients with pernicious anemia. 61
32269981 2020
29
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in burning mouth syndrome patients with vitamin B12 deficiency. 61
32256998 2020
30
Gastric cancer in autoimmune gastritis: A case-control study from the German centers of the staR project on gastric cancer research. 61
32213076 2020
31
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in burning mouth syndrome patients with iron deficiency. 61
32256999 2020
32
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with vitamin B12 deficiency. 61
31630933 2020
33
Role of Pernicious Anemia in Patients Admitted to Internal Medicine with Vitamin B12 Deficiency and Oral Replacement Therapy as a Treatment Option. 61
32162860 2020
34
Toxicity induced by multiple high doses of vitamin B12 during pernicious anemia treatment: a case report. 61
31018715 2020
35
Fallacies of clinical studies on folic acid hazards in subjects with a low vitamin B12 status. 61
32228273 2020
36
Autoimmune Gastritis in Pediatrics: A Review of 3 Cases. 61
31978028 2020
37
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with iron deficiency. 61
31607629 2020
38
High frequency of anti-parietal cell antibody (APCA) and intrinsic factor blocking antibody (IFBA) in individuals with severe vitamin B12 deficiency - an observational study in primary care patients. 61
31714882 2020
39
Suspected Metformin-induced Cobalamin Deficiency Mimicking Thrombotic Thrombocytopenic Purpura. 61
32190475 2020
40
Antibodies involved in the development of pernicious anemia and other autoimmune diseases. 61
31813927 2020
41
Thyro-entero-gastric autoimmunity: Pathophysiology and implications for patient management. 61
31864909 2020
42
Pernicious Anemia and Vitiligo in an HIV Patient: An Unfamiliar Case Presentation. 61
32551143 2020
43
Anemia, hematinic deficiencies, and gastric parietal cell antibody positivity in atrophic glossitis patients with or without hyperhomocysteinemia. 61
31444017 2020
44
Vitamin B12: An Intergenerational Story. 61
31991435 2020
45
Chronic Atrophic Gastritis with Negative Intrinsic Factor and Parietal Cell Antibody Presenting as a Severe Hemolytic Anemia. 61
32509364 2020
46
Serologic Profile of Antiparietal Cell Antibodies, Pepsinogens, and H. pylori and Risk of Upper Gastrointestinal Cancer: A Nested Case-Control Study in China. 61
31501152 2019
47
Diagnostic difficulties in pernicious anemia. 61
32053765 2019
48
Hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with macrocytosis. 61
31324439 2019
49
[Chronic autoimmune gastritis : a multidisciplinary management]. 61
31729849 2019
50
Autoimmune Gastritis. 61
31661309 2019

Variations for Pernicious Anemia

Expression for Pernicious Anemia

Search GEO for disease gene expression data for Pernicious Anemia.

GO Terms for Pernicious Anemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.28 TPO TG TCN2 TCN1 SST GAST

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

# Name GO ID Score Top Affiliating Genes
1 cellular sodium ion homeostasis GO:0006883 9.48 ATP4A ATP12A
2 thyroid hormone generation GO:0006590 9.46 TPO TG
3 mast cell degranulation GO:0043303 9.43 CHGA CBL
4 sodium ion export across plasma membrane GO:0036376 9.4 ATP4A ATP12A
5 cellular potassium ion homeostasis GO:0030007 9.37 ATP4A ATP12A
6 cobalamin transport GO:0015889 9.33 TCN2 TCN1 CBLIF
7 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.32 ATP4A ATP12A
8 hormone biosynthetic process GO:0042446 9.26 TPO TG
9 cobalt ion transport GO:0006824 9.13 TCN2 TCN1 CBLIF
10 cobalamin metabolic process GO:0009235 8.92 TCN2 TCN1 MTR CBLIF

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

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP4A ATP12A
2 potassium-transporting ATPase activity GO:0008556 9.16 ATP4A ATP12A
3 potassium:proton exchanging ATPase activity GO:0008900 8.96 ATP4A ATP12A
4 cobalamin binding GO:0031419 8.92 TCN2 TCN1 MTR CBLIF

Sources for Pernicious Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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