MCID: PRN011
MIFTS: 54

Pernicious Anemia

Categories: Blood diseases, Gastrointestinal diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Pernicious Anemia

MalaCards integrated aliases for Pernicious Anemia:

Name: Pernicious Anemia 57 11 19 75 14 63 16
Anemia, Pernicious 75 43 71
Pernicious Anaemia 11 33
Anemia Pernicious 11 53
Juvenile Onset Pernicious Anemia 19
Acquired Pernicious Anemia 19
Biermer-Addison Disease 33
Addison-Biermer Anemia 19
Addison's Anaemia 11
Biermer's Anaemia 11
Addisonian Anemia 19
Biermer's Disease 19
Biermer's Anemia 11
Biermer Disease 33
Biermer Anemia 19

Characteristics:


Inheritance:

? Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:13381
OMIM® 57 170900
ICD9CM 34 281.0
MeSH 43 D000752
NCIt 49 C2871
SNOMED-CT 68 191139001
ICD10 31 D51.0
MedGen 40 C0002892
SNOMED-CT via HPO 69 53165003
ICD11 33 1493613976
UMLS 71 C0002892

Summaries for Pernicious Anemia

PubMed Health : 63 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 congenital 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 Cobalamin (Cbl, vitamin B12) transport and metabolism. The drugs Mecobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, spinal cord and liver, and related phenotypes are megaloblastic anemia and malabsorption of vitamin b12

GARD: 19 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.

Disease Ontology: 11 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.

Wikipedia: 75 Pernicious anemia is a type of vitamin B12 deficiency anemia, a disease in which not enough red blood... 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 661)
# Related Disease Score Top Affiliating Genes
1 congenital intrinsic factor deficiency 32.8 CBLIF AMN
2 diphyllobothriasis 32.2 TCN1 CBLIF
3 gastritis 32.1 SST GAST CHGA CCR6 ATP4A
4 atrophic gastritis 32.0 SST GAST CHGA ATP4A ATP12A
5 vitiligo-associated multiple autoimmune disease susceptibility 1 31.9 TPO TG PTPN22 CCR6 AIRE
6 hyperthyroidism 31.9 TPO TG SST INS
7 megaloblastic anemia 31.4 TCN2 TCN1 MTR CBLIF CBL ATP4A
8 carcinoid tumors, intestinal 31.4 SST GAST CHGA
9 carcinoid syndrome 31.3 SST CHGA
10 deficiency anemia 31.2 TCN2 TCN1 MTR INS GAST CCR6
11 macrocytic anemia 31.1 TCN2 MTR GAST AMN
12 autoimmune polyendocrine syndrome, type ii 31.0 TNFRSF25 PTPN22 NUDT10 INS GAD2 CCR6
13 graves disease 1 31.0 TPO TG INS
14 hypoparathyroidism 30.8 TPO INS AIRE
15 hypoadrenocorticism, familial 30.8 TPO TG PTPN22 CCR6 AIRE
16 gastric ulcer 30.8 SST GAST ATP12A
17 microinvasive gastric cancer 30.7 GAST ATP4A ATP12A
18 duodenal ulcer 30.5 SST INS GAST
19 autoimmune disease 30.5 TPO TG PTPN22 INS GAD2 CCR6
20 primary biliary cholangitis 30.5 TNFRSF25 INS CCR6 AIRE
21 myxedema 30.5 TPO TG INS
22 thyroiditis 30.4 TPO TNFRSF25 TG PTPN22 INS AIRE
23 zollinger-ellison syndrome 30.4 SST GAST CHGA ATP4A ATP12A
24 graves' disease 30.4 TPO TG PTPN22 GAD2 AIRE
25 glossitis 30.4 TCN2 GAST ATP4A ATP12A AMN
26 hypothyroidism 30.4 TPO TG SST PTPN22 INS ATP4A
27 hashimoto thyroiditis 30.4 TPO TNFRSF25 TG PTPN22 GAD2 CCR6
28 thyroid crisis 30.4 TPO TG
29 alcohol use disorder 30.3 INS CCR6 ATP12A
30 fungal infectious disease 30.3 CCR6 ATP4A ATP12A AIRE
31 tropical sprue 30.3 TCN1 GAST CBLIF AMN
32 alopecia areata 30.3 TPO PTPN22 AIRE
33 granulomatous gastritis 30.3 GAST ATP4A ATP12A
34 gastric antral vascular ectasia 30.3 GAST ATP4A ATP12A
35 bile reflux 30.2 GAST ATP4A ATP12A
36 cutaneous candidiasis 30.2 NUDT10 CCR6 AIRE
37 autoimmune polyendocrine syndrome 30.2 TG PTPN22 NUDT10 GAD2 CCR6 AIRE
38 atrophic glossitis 30.2 TG ATP4A ATP12A
39 goiter 30.2 TPO TG SST INS
40 autoimmune hepatitis 30.2 TPO PTPN22 AIRE
41 chronic urticaria 30.2 TPO TG PTPN22
42 hypoglycemia 30.2 SST INS GAST CHGA
43 autoimmune gastritis 30.2 TPO TG NUDT10 GAST CHGA CCR6
44 parathyroid adenoma 30.2 TG GAST CHGA
45 vitamin b12 deficiency 30.2 TCN2 TCN1 MTR INS GAST CBLIF
46 gastric neuroendocrine neoplasm 30.1 SST GAST CHGA ATP4A ATP12A
47 esophageal candidiasis 30.1 CCR6 ATP4A ATP12A AIRE
48 prostatic hypertrophy 30.1 INS ATP4A ATP12A
49 homocystinuria 30.1 TCN2 MTR CBLIF
50 nutritional deficiency disease 30.1 GAST CCR6 ATP4A ATP12A

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


Active Peptic Ulcer Disease Acute Cystitis
Alzheimer Disease, Familial, 1 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 megaloblastic anemia 30 HP:0001889
2 malabsorption of vitamin b12 30 HP:0200118

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Heme:
pernicious anemia

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

Clinical features from OMIM®:

170900 (Updated 08-Dec-2022)

Symptoms:

11
  • fatigue

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 AIRE AMN ATP12A ATP4A CBL CCR6
2 no effect GR00402-S-2 10.2 AIRE AMN ATP12A ATP4A CBL CBLIF

MGI Mouse Phenotypes related to Pernicious Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 AIRE ATP12A ATP4A CBL CBLIF CCR6
2 endocrine/exocrine gland MP:0005379 10 AIRE ATP4A CBL CHGA GAD2 GAST
3 digestive/alimentary MP:0005381 9.81 AIRE ATP12A ATP4A GAD2 GAST INS
4 immune system MP:0005387 9.77 AIRE ATP4A CBL CBLIF CCR6 GAD2
5 mortality/aging MP:0010768 9.47 AIRE AMN ATP4A CBL CBLIF CHGA

Drugs & Therapeutics for Pernicious Anemia

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 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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mecobalamin Approved, Investigational Phase 4 13422-55-4
2
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
5
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 24892734 16212801 44176380
6
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6 1130
7
Cobalamin Experimental Phase 4 13408-78-1 6857388
8 Folate Phase 4
9 Vitamins Phase 4
10 Vitamin B9 Phase 4
11 Vitamin B6 Phase 4
12 Trace Elements Phase 4
13 Vitamin B12 Phase 4
14 Vitamin B1 Phase 4
15 Vitamin B Complex Phase 4
16 Vitamin B 6 Phase 4
17 Vitamin B 12 Phase 4
18 Hematinics Phase 4
19 Thiamin Phase 4
20 Micronutrients Phase 4
21
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050
22 Immunoglobulins
23 Antibodies, Monoclonal
24 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Megadose of Hydroxocobalamin (Vitamin B12) for the Treatment of Pernicious Anemia Completed NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
2 Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Completed NCT03941184
3 The Epidemiology, Management, and the Associated Burden of Mental Health, Atopic and Autoimmune Conditions, and Common Infections in Alopecia Areata Active, not recruiting NCT04239521
4 The Epidemiology, Management and Associated Conditions in Alopecia Areata in Czech Republic: A University-clinic-based Retrospective Cohort Study Active, not recruiting NCT05098600
5 To Validate That Pyloric or Pseudopyloric Metaplasia of the Corpus Mucosa is a Specific Pathological Feature of Autoimmune Gastritis Enrolling by invitation NCT05238181

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

Organs/tissues related to Pernicious Anemia:

MalaCards : Bone Marrow, Spinal Cord, Liver, Heart, Thyroid, Bone, Small Intestine

Publications for Pernicious Anemia

Articles related to Pernicious Anemia:

(show top 50) (show all 4635)
# Title Authors PMID Year
1
Racial patterns in pernicious anemia. Early age at onset and increased frequency of intrinsic-factor antibody in black women. 62 57
628388 1978
2
Genetic and auto-immune features of pernicious anemia. I. Unreliability of the Schilling test in detecting genetic predisposition to the disease. 62 57
5648177 1968
3
A famiy study of pernicious anaemia. I. Autoantibodies, achlorhydria, serum pepsinogen and vitamin B12. 62 57
4865547 1968
4
A family study of pernicious anaemia. II. Intrinsic factor secretion, vitamin B12 absorption and genetic aspects of gastric autoimmunity. 62 57
5635601 1968
5
Genetic factors in predisposition to pernicious anemia. 62 57
13662715 1959
6
Correspondence (letter to the editor): Gastrin levels in pernicious anemia. 53 62
19547631 2009
7
Combined megaloblastic and immunohemolytic anemia associated--a case report. 53 62
19388472 2008
8
Production, secretion, and biological activity of the C-terminal flanking peptide of human progastrin. 53 62
17101322 2006
9
Long-term effects of elevated gastrin levels on calcitonin secretion. 53 62
17114906 2006
10
Histomorphological characteristics of gastric mucosa in patients with Zollinger-Ellison syndrome or autoimmune gastric atrophy: role of gastrin and atrophying gastritis. 53 62
10738314 2000
11
Gastrin biosynthesis in the antrum of patients with pernicious anemia. 53 62
9041234 1997
12
[Combined endocrine autoimmune syndrome--incidence, forms of manifestation and clinical significance]. 53 62
7973530 1994
13
Bispecific thyroglobulin and thyroperoxidase autoantibodies in patients with various thyroid and autoimmune diseases. 53 62
7962336 1994
14
Reciprocal changes in antral gastrin and somatostatin mRNA in pernicious anemia. 53 62
7906222 1994
15
Rapid regression of enterochromaffinlike cell gastric carcinoids in pernicious anemia after antrectomy. 53 62
1551550 1992
16
24-hour intragastric acidity and plasma gastrin after omeprazole treatment and after proximal gastric vagotomy in duodenal ulcer patients. 53 62
2227275 1990
17
Absence of a gastrin inhibitory factor in the IgG fraction of serum from patients with pernicious anaemia. 53 62
2387508 1990
18
Autoimmune conditions and pancreatic cancer risk in older American adults. 62
36059225 2023
19
Patient safety, self-injection, and B12 deficiency: a UK cross-sectional survey. 62
36192360 2022
20
An Expert Opinion/Approach: Clinical Presentations, Diagnostic Considerations, and Therapeutic Options for Gastrointestinal Manifestations of Common Variable Immune Deficiency. 62
36148549 2022
21
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns. 62
36112821 2022
22
Protein-losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency. 62
35737255 2022
23
Gender-sex differences in autoimmune atrophic gastritis. 62
35470008 2022
24
Type 1 Diabetes Mellitus and Multiple Sclerosis: An Association to Consider. 62
36447698 2022
25
Pernicious anemia - Diagnosis, treatment, and clinical outcome of a case. 62
36299305 2022
26
Atopic dermatitis and risk of autoimmune conditions: Population-based cohort study. 62
35469843 2022
27
Novel Fluorescent Nano Carbon Quantum Dots Derived From Lactarius Hatsudake for High Selective Vitamin B12 Detection. 62
35244160 2022
28
Hyperhomocysteinemia in cardiovascular diseases: revisiting observational studies and clinical trials. 62
36170884 2022
29
New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden. 62
36140482 2022
30
Research priorities in pernicious anaemia: James Lind Alliance Priority Setting Partnership. 62
36002205 2022
31
Rare case of pernicious anaemia from a university hospital of Nepal: A case report. 62
36045793 2022
32
Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach. 62
35690244 2022
33
Physical health status in first-degree relatives of patients with bipolar disorder, a systematic review. 62
34762016 2022
34
Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study. 62
35225327 2022
35
Aggregation of autoimmunity in extended families of people with autoimmune Addison disease. 62
33955139 2022
36
Approach to Pancytopenia in a Deployed Service Member. 62
36425352 2022
37
A case report: subacute combined degeneration of the spinal cord and pernicious anemia caused by autoimmune gastritis. 62
35777065 2022
38
Autoimmune polyglandular syndrome type 2: A case report. 62
35600201 2022
39
Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II. 62
35182386 2022
40
Advanced diffuse gastric adenocarcinoma in young Syrian woman. A case report. 62
35600190 2022
41
[Vitamin B12 deficiency in an infant child of a mother with pernicious anemia]. 62
35857012 2022
42
Autoimmune polyglandular syndrome type II presenting as subacute combined degeneration of spinal cord: a neuroendocrinology crossroad. 62
34958534 2022
43
A Case Report of Autoimmune Phenomena With Underlying Breast Cancer: Occam's Razor Versus Hickam's Dictum. 62
35800793 2022
44
Effects of vitamin B12 supplementation on pain relief in certain diseases - a literature review. 62
35451593 2022
45
[Clinical management of autoimmune gastritis]. 62
35405749 2022
46
COVID-19 and One-Carbon Metabolism. 62
35456998 2022
47
Pernicious Anemia: The Hematological Presentation of a Multifaceted Disorder Caused by Cobalamin Deficiency. 62
35458234 2022
48
Falsely elevated serum vitamin B12 levels in a case of pernicious anemia. 62
34505941 2022
49
Case Report: COVID Associated Pancytopenia Unmasking Previously Undiagnosed Pernicious Anemia. 62
35405638 2022
50
Immune Response to SARS-CoV-2 Vaccine and Following Breakthrough Omicron Infection in an Autoimmune Patient with Hashimoto's Thyroiditis, Pernicious Anemia, and Chronic Atrophic Autoimmune Gastritis: A Case Report. 62
35335082 2022

Variations for Pernicious Anemia

Expression for Pernicious Anemia

Search GEO for disease gene expression data for Pernicious Anemia.

Pathways for Pernicious Anemia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 TCN2 TCN1 MTR CBLIF AMN
2
Show member pathways
11.04 TCN2 TCN1 MTR CBLIF AMN
3 10.58 PTPN22 CCR6
4 10.09 TCN2 TCN1 CBLIF
5
Show member pathways
10 CBLIF AMN

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 9.66 TPO TG TCN2 TCN1 SST INS

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 9.46 MTR AMN
2 cobalt ion transport GO:0006824 9.43 TCN2 TCN1 CBLIF
3 cobalamin transport GO:0015889 9.23 TCN2 TCN1 CBLIF AMN

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.92 TG SST INS GAST
2 P-type sodium:potassium-exchanging transporter activity GO:0005391 9.67 ATP4A ATP12A
3 P-type potassium:proton transporter activity GO:0008900 9.46 ATP4A ATP12A
4 P-type potassium transmembrane transporter activity GO:0008556 9.26 ATP4A ATP12A
5 cargo receptor ligand activity GO:0140355 9.26 TCN2 CBLIF
6 cobalamin binding GO:0031419 9.23 TCN2 TCN1 MTR CBLIF

Sources for Pernicious Anemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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