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 57 12 74 20 15 62 17
Anemia, Pernicious 74 44 71
Anemia Pernicious 12 54
Juvenile Onset Pernicious Anemia 20
Acquired Pernicious Anemia 20
Addison-Biermer Anemia 20
Pernicious Anaemia 12
Addison's Anaemia 12
Biermer's Anaemia 12
Addisonian Anemia 20
Biermer's Disease 20
Biermer's Anemia 12
Biermer Anemia 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
? autosomal dominant


HPO:

31
pernicious anemia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13381
OMIM® 57 170900
ICD9CM 34 281.0
MeSH 44 D000752
NCIt 50 C2871
SNOMED-CT 67 191139001
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 autoimmune atrophic gastritis, and has symptoms including fatigue An important gene associated with Pernicious Anemia is GAST (Gastrin), and among its related pathways/superpathways are Salivary secretion and Folate Metabolism. 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.

GARD : 20 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 565)
# Related Disease Score Top Affiliating Genes
1 intrinsic factor deficiency 33.2 FUT2 CBLIF
2 autoimmune atrophic gastritis 32.2 GAST CHGA
3 congenital intrinsic factor deficiency 32.2 TCN2 CBLIF
4 hyperthyroidism 31.9 TPO TG SST
5 megaloblastic anemia 31.9 TCN2 TCN1 MTR CBLIF ATP4A
6 vitiligo-associated multiple autoimmune disease susceptibility 1 31.8 TPO PTPN22 CCR6 AIRE
7 atrophic gastritis 31.7 SST GAST CHGA
8 gastritis 31.4 SST SCT GAST CHGA CCR6 ATP4A
9 carcinoid syndrome 30.9 SST CHGA
10 thyroiditis 30.8 TPO TG PTPN22 AIRE
11 glossitis 30.8 TCN2 ATP4A ATP12A
12 vitamin b12 deficiency 30.7 TCN2 TCN1 MTR GAST CBLIF ATP4A
13 microinvasive gastric cancer 30.6 GAST ATP4A ATP12A
14 hypothyroidism 30.6 TPO TG SST LEPQTL1 ATP4A AIRE
15 thyroid gland disease 30.6 TPO TG SST CCR6
16 goiter 30.5 TPO TG SST
17 autoimmune disease 30.5 TPO TG PTPN22 GAD2 CCR6 AIRE
18 gastric neuroendocrine neoplasm 30.4 SST GAST CHGA
19 carcinoid tumors, intestinal 30.4 SST GAST CHGA
20 duodenal ulcer 30.4 SST SCT GAST
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.4 TPO TG PTPN22 GAD2 AIRE
22 hernia, hiatus 30.3 GAST ATP4A ATP12A
23 cutaneous candidiasis 30.3 CCR6 AIRE
24 duodenitis 30.2 GAST ATP4A ATP12A
25 methylmalonic acidemia 30.2 TCN2 TCN1 MTR
26 alopecia areata 30.2 TPO PTPN22 AIRE
27 granulomatous gastritis 30.2 GAST ATP4A ATP12A
28 primary biliary cholangitis 30.2 SCT PTPN22 CCR6 AIRE
29 tropical sprue 30.2 TCN1 GAST CBLIF ATP4A ATP12A
30 graves' disease 30.1 TPO TG PTPN22 GAD2 AIRE
31 exanthem 30.1 CCR6 ATP4A ATP12A
32 lymphocytic colitis 30.1 CHGA ATP4A ATP12A
33 gastric antral vascular ectasia 30.0 SST GAST ATP4A ATP12A
34 esophageal candidiasis 30.0 CCR6 ATP4A ATP12A AIRE
35 hypoadrenocorticism, familial 29.9 TPO TG PTPN22 AIRE
36 hyperparathyroidism 29.9 SCT GAST CHGA
37 hashimoto thyroiditis 29.9 TPO TG PTPN22 GAD2 CCR6 AIRE
38 peptic ulcer disease 29.9 SST SCT GAST ATP4A ATP12A
39 chronic mucocutaneous candidiasis 29.8 PTPN22 CCR6 AIRE
40 type 1 diabetes mellitus 29.8 TPO TNFRSF25 TG SST PTPN22 GAD2
41 autoimmune polyendocrine syndrome 29.8 TPO TG GAD2 CCR6 AIRE
42 neuroendocrine tumor 29.8 SST SCT GAST CHGA ATP4A
43 zollinger-ellison syndrome 29.8 SST SCT GAST CHGA ATP4A ATP12A
44 bile reflux 29.7 SCT GAST ATP4A ATP12A
45 gastrinoma 29.7 SST SCT GAST CHGA
46 islet cell tumor 29.7 SST SCT GAST CHGA
47 cholangitis, primary sclerosing 29.4 TNFRSF25 SCT FUT2 CCR6 AIRE
48 diabetes mellitus 28.5 TPO TNFRSF25 TG SST SCT PTPN22
49 celiac disease 1 27.8 TPO TNFRSF25 TG SCT PTPN22 NUDT10
50 deficiency anemia 11.4

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®:

57 (Updated 05-Mar-2021)
Heme:
pernicious anemia

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

Clinical features from OMIM®:

170900 (Updated 05-Mar-2021)

Symptoms:

12
  • fatigue

MGI Mouse Phenotypes related to Pernicious Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.91 AIRE ATP12A ATP4A FUT2 GAD2 GAST
2 endocrine/exocrine gland MP:0005379 9.81 AIRE ATP4A CHGA GAD2 GAST PTPN22
3 homeostasis/metabolism MP:0005376 9.77 AIRE ATP12A ATP4A CBLIF CCR6 CHGA
4 immune system MP:0005387 9.4 AIRE ATP4A CBLIF CCR6 FUT2 GAD2

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 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, 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
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
5
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
6
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
7
Cobalamin Experimental Phase 4 13408-78-1 6857388
8 Nutrients Phase 4
9 Vitamin B 6 Phase 4
10 Vitamin B Complex Phase 4
11 Micronutrients Phase 4
12 Hematinics Phase 4
13 Vitamin B 12 Phase 4
14 Trace Elements Phase 4
15 Vitamin B12 Phase 4
16 Vitamins Phase 4
17 Folate Phase 4
18 Vitamin B9 Phase 4
19 Thiamin Phase 4
20
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050

Interventional clinical trials:


# 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 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 in Alopecia Areata Not yet recruiting NCT04239521

Search NIH Clinical Center for Pernicious Anemia

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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, Thyroid, Tongue, Spinal Cord, Heart

Publications for Pernicious Anemia

Articles related to Pernicious Anemia:

(show top 50) (show all 2910)
# Title Authors PMID Year
1
Racial patterns in pernicious anemia. Early age at onset and increased frequency of intrinsic-factor antibody in black women. 61 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. 61 57
5648177 1968
3
Genetic factors in predisposition to pernicious anemia. 61 57
13662715 1959
4
A famiy study of pernicious anaemia. I. Autoantibodies, achlorhydria, serum pepsinogen and vitamin B12. 57
4865547 1968
5
A family study of pernicious anaemia. II. Intrinsic factor secretion, vitamin B12 absorption and genetic aspects of gastric autoimmunity. 57
5635601 1968
6
Correspondence (letter to the editor): Gastrin levels in pernicious anemia. 61 54
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. 61 54
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. 61 54
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]. 54 61
7973530 1994
13
Bispecific thyroglobulin and thyroperoxidase autoantibodies in patients with various thyroid and autoimmune diseases. 61 54
7962336 1994
14
Reciprocal changes in antral gastrin and somatostatin mRNA in pernicious anemia. 54 61
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. 61 54
2227275 1990
17
Absence of a gastrin inhibitory factor in the IgG fraction of serum from patients with pernicious anaemia. 54 61
2387508 1990
18
Predominant tubulointerstitial lupus nephritis with preceding pernicious anemia. 61
33548028 2021
19
Potential contributors to low dose methotrexate toxicity in a patient with rheumatoid arthritis and pernicious anemia: case report. 61
33573706 2021
20
Anemia, hematinic deficiencies, and hyperhomocysteinemia in gastric parietal cell antibody-positive and -negative burning mouth syndrome patients. 61
32888843 2021
21
Familial Risks between Pernicious Anemia and Other Autoimmune Diseases in the Population of Sweden. 61
33505716 2021
22
A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess. 61
33284251 2021
23
Atrophic glossitis in pernicious anemia patients can be treated to normal in two weeks by intramuscular injection of vitamin B12. 61
33505632 2020
24
Association of Primary Sjögren's Syndrome and Vitamin B12 Deficiency: A Cross-Sectional Case-Control Study. 61
33339380 2020
25
Hypersensitivity to Vitamins with a Focus on Immediate-Type Reactions: Food or Drug Allergy? 61
33357201 2020
26
[Severe encephalopathy and vitamin B12 deficiency: reversibility after nutritional therapy]. 61
33241939 2020
27
100-year-old Haematologica images: bothriocephalus and pernicious anemia. 61
33131236 2020
28
Autoimmune Hemolytic Anemia After Cyanocobalamin Replacement in a Patient With a Previous Diagnosis of Pernicious Anemia: A Case Report. 61
33163301 2020
29
A rare case of coexistence of autoimmune polyglandular syndrome type 3 with growth hormone deficiency and hyperthyroidism in a patient with pseudo-Turner's syndrome. 61
33045897 2020
30
Receiving a Diagnosis of Pernicious Anemia: Exploring Experiences of Relationships With Health Professionals. 61
33294613 2020
31
Mapping the relationships between inflammatory bowel disease and comorbid diagnoses to identify disease associations. 61
32804850 2020
32
Subacute Combined Degeneration Secondary to Nitrous Oxide Abuse: Quantification of Use With Patient Follow-up. 61
33145122 2020
33
Parietal cell antibodies: evolution of plasma vitamin B12 during oral supplementation to differentiate true and false positives for pernicious anemia. 61
32621669 2020
34
Review: Prevention and management of gastric cancer. 61
32918347 2020
35
A case of megaloblastic anemia simulating a cold autoimmune hemolytic anemia. 61
33112632 2020
36
Diabetes mellitus and pernicious anemia: interrelated therapeutic triumphs discovered shortly after William Osler's death. 61
33100573 2020
37
Association between Vitamin B12 levels and cognitive function in the elderly Korean population. 61
32791746 2020
38
Nutritional neuropathies. 61
31837157 2020
39
Et Tu, B12? Cobalamin Deficiency Masquerading As Pseudo-Thrombotic Microangiopathy. 61
32670728 2020
40
Grave and Pernicious Anemia Presenting as Pancytopenia. 61
31862332 2020
41
Anemia, hematinic deficiencies, and gastric parietal cell antibody positivity in burning mouth syndrome patients with or without hyperhomocysteinemia. 61
32595904 2020
42
A Rare Case of Acquired Hemolytic Anemia and Pancytopenia Secondary to Pernicious Anemia. 61
32774276 2020
43
Predictive risk factors for autoimmune thyroid diseases in patients with pernicious anemia. 61
31780218 2020
44
Scleredema of Buschke associated with lichen sclerosus: Three cases. 61
30289118 2020
45
Pernicious anemia. 61
32379881 2020
46
Pernicious anemia presenting as glossitis. 61
32312826 2020
47
Rare anterior funiculus lesions in subacute combined degeneration of the spinal cord: a case report and literature review. 61
31675909 2020
48
Anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in 884 patients with burning mouth syndrome. 61
31679908 2020
49
Comorbid diseases of vitiligo: A 10-year cross-sectional retrospective study of an urban US population. 61
31325552 2020
50
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

Variations for Pernicious Anemia

Expression for Pernicious Anemia

Search GEO for disease gene expression data for Pernicious Anemia.

Pathways 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 region GO:0005576 9.61 TNFRSF25 TG TCN2 TCN1 SST SCT
2 extracellular space GO:0005615 9.32 TPO TG TCN2 TCN1 SST SCT

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

# Name GO ID Score Top Affiliating Genes
1 thyroid hormone generation GO:0006590 9.43 TPO TG
2 sodium ion export across plasma membrane GO:0036376 9.4 ATP4A ATP12A
3 cellular potassium ion homeostasis GO:0030007 9.37 ATP4A ATP12A
4 cobalamin transport GO:0015889 9.33 TCN2 TCN1 CBLIF
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.32 ATP4A ATP12A
6 hormone biosynthetic process GO:0042446 9.26 TPO TG
7 cobalt ion transport GO:0006824 9.13 TCN2 TCN1 CBLIF
8 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 9.32 ATP4A ATP12A
2 potassium-transporting ATPase activity GO:0008556 9.26 ATP4A ATP12A
3 hormone activity GO:0005179 9.26 TG SST SCT GAST
4 potassium:proton exchanging ATPase activity GO:0008900 9.16 ATP4A ATP12A
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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