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MCID: PRN011
MIFTS: 52

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 58 12 77 54 15 64 17
Anemia, Pernicious 77 45 74
Anemia Pernicious 12 56
Juvenile Onset Pernicious Anemia 54
Acquired Pernicious Anemia 54
Addison-Biermer Anemia 54
Addison's Anaemia 12
Addisonian Anemia 54
Biermer's Disease 54
Biermer's Anemia 12
Biermer Anemia 54

Characteristics:

OMIM:

58
Inheritance:
? autosomal dominant


HPO:

33
pernicious anemia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:13381
OMIM 58 170900
ICD9CM 36 281.0
MeSH 45 D000752
NCIt 51 C2871
SNOMED-CT 69 84027009
ICD10 34 D51.0
MedGen 43 C0002892
SNOMED-CT via HPO 70 263681008 53165003
UMLS 74 C0002892
Sources

Summaries for Pernicious Anemia

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PubMed Health : 64 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 Hydroxocobalamin and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, bone and skin, 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 : 54 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 : 77 Vitamin B12 deficiency anemia, of which pernicious anemia is a type, is a disease in which not enough... more...

Description 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 248)
# Related Disease Score Top Affiliating Genes
1 intrinsic factor deficiency 33.7 CBLIF FUT2
2 diphyllobothriasis 32.2 CBLIF GAST
3 atrophic gastritis 30.9 GAST SST
4 vitamin b12 deficiency 30.5 TCN1 TCN2
5 thyroiditis 30.4 TG TPO
6 zollinger-ellison syndrome 30.4 GAST SST
7 graves disease 1 30.3 TG TPO
8 myxedema 30.2 TG TPO
9 duodenal ulcer 30.1 GAST SST
10 gastrinoma 30.0 GAST SST
11 autoimmune disease 29.9 AIRE TG TPO
12 hyperthyroidism 29.9 SST TG TPO
13 hashimoto thyroiditis 29.9 AIRE TG TPO
14 megaloblastic anemia 29.9 CBLIF TCN1 TCN2
15 gastric neuroendocrine neoplasm 29.8 CBLIF GAST SST
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.8 AIRE TG TPO
17 hypothyroidism 29.8 AIRE TG TPO
18 celiac disease 1 29.2 TG TPO
19 megaloblastic anemia 1 12.0
20 gastritis 11.6
21 stiff-person syndrome 11.3
22 autoimmune polyglandular syndrome type 3 11.3
23 congenital intrinsic factor deficiency 11.3
24 anemia, congenital dyserythropoietic, type iii 11.2
25 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.2
26 vitamin b12 plasma level quantitative trait locus 1 11.2
27 autoimmune atrophic gastritis 11.2
28 autoimmune oophoritis 11.2
29 deficiency anemia 10.5
30 leukemia 10.5
31 diabetes mellitus 10.4
32 polycythemia 10.4
33 gastric cancer 10.4
34 agammaglobulinemia 10.4
35 carcinoma showing thymus-like differentiation 10.3
36 polycythemia vera 10.3
37 homocysteinemia 10.3
38 hepatitis 10.3
39 macrocytic anemia 10.3
40 granulomatous gastritis 10.3 CBLIF GAST
41 systemic lupus erythematosus 10.3
42 hypoparathyroidism 10.3
43 purpura 10.3
44 lupus erythematosus 10.3
45 type 1 diabetes mellitus 5 10.2 AIRE FUT2
46 biliary cirrhosis, primary, 1 10.2
47 helicobacter pylori infection 10.2
48 myelodysplastic syndrome 10.2
49 primary biliary cirrhosis 10.2
50 autoimmune gastritis 10.2

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:

33
# Description HPO Frequency HPO Source Accession
1 megaloblastic anemia 33 HP:0001889
2 malabsorption of vitamin b12 33 HP:0200118

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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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PubMedHealth treatment related to Pernicious Anemia: 64

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
Hydroxocobalamin Approved Phase 4,Phase 2 13422-51-0 15589840 11953898
2
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 2 13422-55-4
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
4
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 2 68-19-9 44176380
5
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
6
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
7
Cobalamin Experimental Phase 4,Phase 2 13408-78-1 6857388
8 Folate Phase 4,Phase 2
9 Vitamin B Complex Phase 4,Phase 2
10 Vitamin B 12 Phase 4,Phase 2
11 Vitamins Phase 4,Phase 2
12 Vitamin B12 Phase 4,Phase 2
13 Trace Elements Phase 4,Phase 2
14 Micronutrients Phase 4,Phase 2
15 Hematinics Phase 4,Phase 2
16 Nutrients Phase 4,Phase 2
17 Vitamin B9 Phase 4,Phase 2
18 Vitamin B 6 Phase 4
19 Thiamin Phase 4
20
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050
21 Immunologic Factors Phase 3,Phase 2
22 Vaccines Phase 3
23
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
24 Anti-Bacterial Agents Phase 2
25 Analgesics Phase 2
26 Immunosuppressive Agents Phase 2
27 Anti-Inflammatory Agents, Non-Steroidal Phase 2
28 Analgesics, Non-Narcotic Phase 2
29 Anti-Infective Agents Phase 2
30 Angiogenesis Modulating Agents Phase 2
31 Peripheral Nervous System Agents Phase 2
32 Anti-Inflammatory Agents Phase 2
33 Angiogenesis Inhibitors Phase 2
34 Antirheumatic Agents Phase 2
35 Antibodies
36 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Megadose of Hydroxocobalamin for the Treatment of Pernicious Anemia Recruiting NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
2 Study to Evaluate Immunogenicity of the Hepatitis B Antigen of the GSK Biologicals' Candidate Malaria Vaccine (257049) Completed NCT01345240 Phase 3
3 Oral Vitamin B12 Administration for Vitamin B12 Deficiency After Total Gastrectomy Completed NCT00699478 Phase 2 mecobalamin
4 Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Active, not recruiting NCT03123016 Phase 2 Apremilast
5 Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Recruiting NCT03941184
6 Clinical Course of Interstitial Lung Diseases: European IPF Registry and Biobank Recruiting NCT02951416

Search NIH Clinical Center for Pernicious Anemia

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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:

42
Thyroid, Bone, Skin, Tongue, Bone Marrow, Testes, T Cells
Sources

Publications for Pernicious Anemia

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Articles related to Pernicious Anemia:

(show top 50) (show all 1232)
# Title Authors Year
1
Subacute Combined Degeneration, Pernicious Anemia and Gastric Neuroendocrine Tumor Occured Simultaneously Caused by Autoimmune Gastritis. ( 30740042 )
2019
2
Toxicity induced by multiple high doses of vitamin B12 during pernicious anemia treatment: a case report. ( 31018715 )
2019
3
Intrinsic factor recognition promotes T helper 17/T helper 1 autoimmune gastric inflammation in patients with pernicious anemia. ( 31080562 )
2019
4
Pernicious anemia and endocrine glands antibodies. ( 30648728 )
2019
5
Pernicious anemia associated with cryptogenic cirrhosis: Two case reports and a literature review. ( 30278550 )
2018
6
Subacute Combined Degeneration from Nitrous Oxide Abuse in a Patient with Pernicious Anemia. ( 29756593 )
2018
7
Simultaneous pulmonary thromboembolism and superior mesenteric venous thrombosis associated with hyperhomocysteinemia secondary to pernicious anemia-induced vitamin B12 deficiency. ( 30057976 )
2018
8
Pleural Extramedullary Hematopoiesis due to severe pernicious anemia. ( 30503069 )
2018
9
Pernicious Anemia Presented with Isolated Nominal Dysphasia in Type Ill Polyglandular Failure Female Patient. ( 30519517 )
2018
10
A case of pernicious anemia requiring differential diagnosis of autoimmune hemolytic anemia complication. ( 28948030 )
2017
11
Pathophysiology and laboratory diagnosis of pernicious anemia. ( 27538411 )
2017
12
Pernicious Anemia: Fundamental and Practical Aspects in Diagnosis. ( 28164751 )
2017
13
Pernicious Anemia Associated Cobalamin Deficiency and Thrombotic Microangiopathy: Case Report and Review of the Literature. ( 28265287 )
2017
14
Acquired Thrombotic Thrombocytopenic Purpura in a Patient with Pernicious Anemia. ( 28473932 )
2017
15
Intra-abdominal abscesses by Lactococcus lactis ssp cremoris in an immunocompetent adult with severe periodontitis and pernicious anemia. ( 28050349 )
2017
16
Pseudo-thrombotic thrombocytopenic purpura presenting as multi-organ dysfunction syndrome: A rare complication of pernicious anemia. ( 28620491 )
2017
17
Pseudothrombotic microangiopathy and vitamin B12 deficiency in pernicious anemia. ( 28670082 )
2017
18
Venous thromboembolism and hyperhomocysteinemia as first manifestation of pernicious anemia: a case series. ( 28863787 )
2017
19
Challenging clinical presentations of pernicious anemia. ( 28972879 )
2017
20
Increased risk of pernicious anemia following scabies: a nationwide population-based matched-cohort study. ( 29066901 )
2017
21
HIGH-RISK GASTRIC PATHOLOGY AND PREVALENT AUTOIMMUNE DISEASES IN PATIENTS WITH PERNICIOUS ANEMIA. ( 29190137 )
2017
22
Association pernicious anemia and autoimmune polyendocrinopathy: a retrospective study. ( 29362601 )
2017
23
Pernicious Anemia with Autoimmune Hemolytic Anemia: A Case Report and Literature Review. ( 27559485 )
2016
24
A case of asymptomatic pancytopenia with clinical features of hemolysis as a presentation of pernicious anemia. ( 27609735 )
2016
25
Do all the patients with vitamin B12 deficiency have pernicious anemia? ( 25990467 )
2016
26
Pernicious Anemia: Time to Justify Endoscopic Monitoring? ( 26240006 )
2016
27
Pernicious anemia and colorectal cancer risk - A nested case-control study. ( 27481584 )
2016
28
Pernicious Anemia: Another Interesting Analytic Finding. ( 27554965 )
2016
29
Oral Vitamin B12 Replacement for the Treatment of Pernicious Anemia. ( 27602354 )
2016
30
Differentiation of pernicious anemia from thrombotic thrombocytopenic purpura: The clinical value of subtle pathologic findings. ( 27765664 )
2016
31
High percentage of regulatory T cells before and after vitamin B12 treatment in patients with pernicious anemia. ( 25170761 )
2015
32
Pernicious anemia. From past to present. ( 25680481 )
2015
33
Pernicious anemia presenting as catatonia: correlating vitamin B12 levels and catatonic symptoms. ( 25774050 )
2015
34
Advances in mechanisms, diagnosis, and treatment of pernicious anemia. ( 25828519 )
2015
35
Hematinic deficiencies and pernicious anemia in oral mucosal disease patients with macrocytosis. ( 25935499 )
2015
36
Cancer Risk After Pernicious Anemia in the US Elderly Population. ( 26079040 )
2015
37
Risk of community-acquired pneumonia in patients with a diagnosis of pernicious anemia: a population-based retrospective cohort study. ( 26225868 )
2015
38
Pernicious anemia: Normal ferritin levels and possible hidden iron deficiency. ( 26298545 )
2015
39
Type 1 Diabetes Mellitus and Pernicious Anemia in an Elderly Japanese Patient: A Case Report and Literature Review. ( 26370862 )
2015
40
COEXISTENCE OF ADDISON'S DISEASE AND PERNICIOUS ANEMIA: IS THE NEW CLASSIFICATION OF AUTOIMMUNE POLYGLANDULAR SYNDROME APPROPRIATE? ( 26415323 )
2015
41
An unexpected mucosal metaplasia at the gastric cardia in longstanding pernicious anemia. ( 26465909 )
2015
42
Spurious laboratory alterations in pernicious anemia. ( 26670405 )
2015
43
Postoperative elevation of CA15-3 due to pernicious anemia in a patient without evidence of breast cancer recurrence. ( 26943450 )
2015
44
"What an Affliction": Mary Todd Lincoln's Fatal Pernicious Anemia. ( 27397049 )
2015
45
George Minot and Pernicious Anemia. ( 27604448 )
2015
46
Pernicious Anemia, Atrophic Gastritis, and the Risk of Cancer. ( 26192144 )
2015
47
[Pernicious anemia: diagnosis and course in Burkina Faso]. ( 25787024 )
2015
48
Prevalence of pernicious anemia in patients with macrocytic anemia and low serum B12. ( 25674111 )
2014
49
Diagnosis and classification of pernicious anemia. ( 24424200 )
2014
50
Oral cobalamin (vitamin B12) therapy in pernicious anemia. ( 24503031 )
2014
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 67
Show member pathways
 12.15 CBLIF TCN1 TCN2
2
Selenium Micronutrient Network 1
Show member pathways
 11.83 CBLIF TCN1 TCN2
3
Vitamin digestion and absorption 38
10.64 CBLIF TCN2
4
Cobalamin (Cbl, vitamin B12) transport and metabolism 67
10.12 CBLIF TCN1 TCN2
5
Gastric acid production 1
10 CBLIF GAST
6
Thyroxine (Thyroid Hormone) Production 1
9.73 TG TPO
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 CBLIF GAST SST TCN1 TCN2 TG
2 extracellular space GO:0005615 9.1 CBLIF GAST SST TCN1 TCN2 TPO

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 CBLIF TCN1 TCN2
2 hormone biosynthetic process GO:0042446 9.26 TG TPO
3 cobalamin transport GO:0015889 9.13 CBLIF TCN1 TCN2
4 cobalt ion transport GO:0006824 8.8 CBLIF TCN1 TCN2

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 GAST SST TG
2 cobalamin binding GO:0031419 8.8 CBLIF TCN1 TCN2
Sources

Sources for Pernicious Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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