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MCID: PRN011
MIFTS: 53

Pernicious Anemia

Categories: Blood diseases, Gastrointestinal diseases, Metabolic diseases, Neuronal 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 76 53 15 63
Anemia, Pernicious 76 44 73
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


Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Gastrointestinal diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 170900
Disease Ontology 12 DOID:13381
ICD10 33 D51.0
ICD9CM 35 281.0
MeSH 44 D000752
NCIt 50 C2871
SNOMED-CT 68 84027009
MedGen 42 C0002892
SNOMED-CT via HPO 69 53165003
UMLS 73 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. 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 skin, tongue and testes, and related phenotypes are megaloblastic anemia and malabsorption of vitamin b12

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 : 76 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 234)
# Related Disease Score Top Affiliating Genes
1 intrinsic factor deficiency 33.5 CBLIF FUT2
2 diphyllobothriasis 32.0 CBLIF GAST
3 atrophic gastritis 30.9 GAST SST
4 vitamin b12 deficiency 30.4 TCN1 TCN2
5 thyroiditis 30.3 TG TPO
6 zollinger-ellison syndrome 30.1 GAST SST
7 myxedema 30.1 TG TPO
8 duodenal ulcer 30.1 GAST SST
9 autoimmune disease 30.0 AIRE TG TPO
10 megaloblastic anemia 30.0 CBLIF TCN1 TCN2
11 gastrinoma 29.9 GAST SST
12 hyperthyroidism 29.9 SST TG TPO
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.9 TPO TG AIRE
14 hypothyroidism 29.8 AIRE TG TPO
15 megaloblastic anemia 1 12.0
16 gastritis 11.5
17 stiff-person syndrome 11.3
18 autoimmune polyglandular syndrome type 3 11.3
19 congenital intrinsic factor deficiency 11.2
20 anemia, congenital dyserythropoietic, type iii 11.1
21 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.1
22 vitamin b12 plasma level quantitative trait locus 1 11.1
23 autoimmune atrophic gastritis 11.1
24 autoimmune oophoritis 11.1
25 diabetes mellitus 10.4
26 leukemia 10.4
27 polycythemia 10.4
28 gastric cancer 10.3
29 hepatitis 10.3
30 macrocytic anemia 10.3
31 systemic lupus erythematosus 10.3
32 polycythemia vera 10.3
33 hypoparathyroidism 10.3
34 purpura 10.3
35 lupus erythematosus 10.3
36 biliary cirrhosis, primary, 1 10.2
37 helicobacter pylori infection 10.2
38 myelodysplastic syndrome 10.2
39 primary biliary cirrhosis 10.2
40 immunoglobulin alpha deficiency 10.2
41 primary biliary cholangitis 10.2
42 granulomatous gastritis 10.2 CBLIF GAST
43 arthritis 10.2
44 autoimmune gastritis 10.2
45 thrombotic thrombocytopenic purpura 10.2
46 type 1 diabetes mellitus 5 10.2 AIRE FUT2
47 pylorospasm 10.1 GAST SST
48 space motion sickness 10.1 FUT2 GAST
49 postcholecystectomy syndrome 10.1 GAST SST
50 insulinomatosis and diabetes mellitus 10.1 GAST SST

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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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

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

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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PubMedHealth 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 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 4,Phase 2 13422-51-0 11953898 44475014
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 59-43-8, 70-16-6 1130
6
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
7
Cobalamin Experimental Phase 4,Phase 2 13408-78-1 6438156
8 Micronutrients Phase 4,Phase 2
9 Vitamins Phase 4,Phase 2
10 Vitamin B9 Phase 4,Phase 2
11 Trace Elements Phase 4,Phase 2
12 Vitamin B Complex Phase 4,Phase 2
13 Folate Phase 4,Phase 2
14 Hematinics Phase 4,Phase 2
15 Vitamin B 12 Phase 4,Phase 2
16 Vitamin B12 Phase 4,Phase 2
17 Vitamin B 6 Phase 4
18 Thiamin Phase 4
19
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050
20 Vaccines Phase 3
21 Immunologic Factors Phase 3,Phase 2
22
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
23 Anti-Bacterial Agents Phase 2
24 Analgesics Phase 2
25 Immunosuppressive Agents Phase 2
26 Analgesics, Non-Narcotic Phase 2
27 Anti-Infective Agents Phase 2
28 Antirheumatic Agents Phase 2
29 Anti-Inflammatory Agents, Non-Steroidal Phase 2
30 Angiogenesis Modulating Agents Phase 2
31 Angiogenesis Inhibitors Phase 2
32 Peripheral Nervous System Agents Phase 2
33 Anti-Inflammatory Agents Phase 2
34 Immunoglobulins
35 Antibodies

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 Recruiting NCT03123016 Phase 2 Apremilast
5 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 73 / NDF-RT 51 :


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

Publications for Pernicious Anemia

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Articles related to Pernicious Anemia:

(show top 50) (show all 1027)
# Title Authors Year
1
Subacute Combined Degeneration from Nitrous Oxide Abuse in a Patient with Pernicious Anemia. ( 29756593 )
2018
2
Pernicious anemia associated with cryptogenic cirrhosis: Two case reports and a literature review. ( 30278550 )
2018
3
Simultaneous pulmonary thromboembolism and superior mesenteric venous thrombosis associated with hyperhomocysteinemia secondary to pernicious anemia-induced vitamin B12 deficiency. ( 30057976 )
2018
4
Pleural Extramedullary Hematopoiesis due to severe pernicious anemia. ( 30503069 )
2018
5
Pernicious Anemia Presented with Isolated Nominal Dysphasia in Type Ill Polyglandular Failure Female Patient. ( 30519517 )
2018
6
Pseudo-thrombotic thrombocytopenic purpura presenting as multi-organ dysfunction syndrome: A rare complication of pernicious anemia. ( 28620491 )
2017
7
Acquired Thrombotic Thrombocytopenic Purpura in a Patient with Pernicious Anemia. ( 28473932 )
2017
8
Pseudothrombotic microangiopathy and vitamin B12 deficiency in pernicious anemia. ( 28670082 )
2017
9
Increased risk of pernicious anemia following scabies: a nationwide population-based matched-cohort study. ( 29066901 )
2017
10
Association pernicious anemia and autoimmune polyendocrinopathy: a retrospective study. ( 29362601 )
2017
11
Pernicious anemia: Fundamental and practical aspects in diagnosis. ( 28164751 )
2017
12
HIGH-RISK GASTRIC PATHOLOGY AND PREVALENT AUTOIMMUNE DISEASES IN PATIENTS WITH PERNICIOUS ANEMIA. ( 29190137 )
2017
13
Intra-abdominal abscesses by Lactococcus lactis ssp cremoris in an immunocompetent adult with severe periodontitis and pernicious anemia. ( 28050349 )
2017
14
Challenging clinical presentations of pernicious anemia. ( 28972879 )
2017
15
Pernicious Anemia Associated Cobalamin Deficiency and Thrombotic Microangiopathy: Case Report and Review of the Literature. ( 28265287 )
2017
16
A case of pernicious anemia requiring differential diagnosis of autoimmune hemolytic anemia complication. ( 28948030 )
2017
17
Venous thromboembolism and hyperhomocysteinemia as first manifestation of pernicious anemia: a case series. ( 28863787 )
2017
18
A case of asymptomatic pancytopenia with clinical features of hemolysis as a presentation of pernicious anemia. ( 27609735 )
2016
19
Pernicious Anemia with Autoimmune Hemolytic Anemia: A Case Report and Literature Review. ( 27559485 )
2016
20
Oral Vitamin B12 Replacement for the Treatment of Pernicious Anemia. ( 27602354 )
2016
21
Pathophysiology and laboratory diagnosis of pernicious anemia. ( 27538411 )
2016
22
Pernicious Anemia: Another Interesting Analytic Finding. ( 27554965 )
2016
23
Differentiation of pernicious anemia from thrombotic thrombocytopenic purpura: The clinical value of subtle pathologic findings. ( 27765664 )
2016
24
Pernicious anemia and colorectal cancer risk - A nested case-control study. ( 27481584 )
2016
25
Hematinic deficiencies and pernicious anemia in oral mucosal disease patients withA macrocytosis. ( 25935499 )
2015
26
Spurious laboratory alterations in pernicious anemia. ( 26670405 )
2015
27
COEXISTENCE OF ADDISON'S DISEASE AND PERNICIOUS ANEMIA: IS THE NEW CLASSIFICATION OF AUTOIMMUNE POLYGLANDULAR SYNDROME APPROPRIATE? ( 26415323 )
2015
28
Pernicious anemia: Normal ferritin levels and possible hidden iron deficiency. ( 26298545 )
2015
29
Type 1 Diabetes Mellitus and Pernicious Anemia in an Elderly Japanese Patient: A Case Report and Literature Review. ( 26370862 )
2015
30
George Minot and Pernicious Anemia. ( 27604448 )
2015
31
An Unexpected Mucosal Metaplasia at the Gastric Cardia in Longstanding Pernicious Anemia. ( 26465909 )
2015
32
Do all the patients with vitamin B12 deficiency have pernicious anemia? ( 25990467 )
2015
33
Postoperative elevation of CA15-3 due to pernicious anemia in a patient without evidence of breast cancer recurrence. ( 26943450 )
2015
34
Pernicious anemia: diagnosis and course in Burkina Faso. ( 25787024 )
2015
35
Pernicious Anemia, Atrophic Gastritis, and the Risk of Cancer. ( 26192144 )
2015
36
Pernicious anemia. From past to present. ( 25680481 )
2015
37
Cancer Risk After Pernicious Anemia in the US Elderly Population. ( 26079040 )
2015
38
Advances in mechanisms, diagnosis, and treatment of pernicious anemia. ( 25828519 )
2015
39
Pernicious Anemia: Time to Justify Endoscopic Monitoring? ( 26240006 )
2015
40
High percentage of regulatory T cells before and after vitamin B12 treatment in patients with pernicious anemia. ( 25170761 )
2015
41
Pernicious anemia presenting as catatonia: correlating vitamin B12 levels and catatonic symptoms. ( 25774050 )
2015
42
Risk of community-acquired pneumonia in patients with a diagnosis of pernicious anemia: a population-based retrospective cohort study. ( 26225868 )
2015
43
"What an Affliction": Mary Todd Lincoln's Fatal Pernicious Anemia. ( 27397049 )
2015
44
Oral cobalamin (vitamin B12) therapy in pernicious anemia. ( 24503031 )
2014
45
Treatment of pernicious anemia: Which is the best option? ( 24657514 )
2014
46
Prevalence of pernicious anemia in patients with macrocytic anemia and low serum B12. ( 25674111 )
2014
47
Diagnosis and Classification of Pernicious Anemia. ( 24424200 )
2014
48
Diagnosis of pernicious anemia and the risk of pancreatic cancer. ( 24622073 )
2014
49
Portal, superior mesenteric and splenic vein thrombosis secondary to hyperhomocysteinemia with pernicious anemia: a case report. ( 25155131 )
2014
50
Pernicious anemia with spuriously normal vitamin B12 level might be misdiagnosed as myelodysplastic syndrome. ( 24630920 )
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 66
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 37
10.64 CBLIF TCN2
4
Cobalamin (Cbl, vitamin B12) transport and metabolism 66
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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