MCID: PRN011
MIFTS: 43

Pernicious Anemia

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Pernicious Anemia

MalaCards integrated aliases for Pernicious Anemia:

Name: Pernicious Anemia 12 50 14
Anemia, Pernicious 42 69
Anemia Pernicious 12 52
Juvenile Onset Pernicious Anemia 50
Acquired Pernicious Anemia 50
Addison-Biermer Anemia 50
Addison's Anaemia 12
Addisonian Anemia 50
Biermer's Disease 50
Biermer's Anemia 12
Biermer Anemia 50

Classifications:



External Ids:

Disease Ontology 12 DOID:13381
ICD10 33 D51.0
ICD9CM 35 281.0
MeSH 42 D000752
NCIt 47 C2871
SNOMED-CT via HPO 65 53165003
UMLS 69 C0002892

Summaries for Pernicious Anemia

NIH Rare Diseases : 50 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. last updated: 9/11/2015

MalaCards based summary : Pernicious Anemia, also known as anemia, pernicious, is related to intrinsic factor deficiency and megaloblastic anemia-1, finnish type, and has symptoms including megaloblastic anemia and malabsorption of vitamin b12. An important gene associated with Pernicious Anemia is GIF (Gastric Intrinsic Factor), and among its related pathways/superpathways are Vitamin digestion and absorption and Cobalamin (Cbl, vitamin B12) transport and metabolism. The drugs Hydroxocobalamin and Apremilast have been mentioned in the context of this disorder. Affiliated tissues include testes, thyroid and lung.

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 197)
id Related Disease Score Top Affiliating Genes
1 intrinsic factor deficiency 11.8
2 megaloblastic anemia-1, finnish type 11.7
3 megaloblastic anemia 11.4
4 gastritis 11.3
5 autoimmune polyglandular syndrome type 3 11.0
6 stiff-person syndrome 11.0
7 congenital intrinsic factor deficiency 11.0
8 autoimmune atrophic gastritis 10.9
9 autoimmune oophoritis 10.9
10 autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia 10.9
11 dyserythropoietic anemia, congenital, type iii 10.9
12 diphyllobothriasis 10.9
13 prostate cancer, hereditary, 14 10.6 FUT2 GIF
14 muscle cancer 10.6 GAST GIF
15 sparganosis 10.5 GAST GIF
16 congenital heart defects, nonsyndromic, 2 10.5 AIRE FUT2
17 primary syphilis 10.5 GAST SST
18 bone giant cell sarcoma 10.5 GAST SST
19 male reproductive system disease 10.5 FUT2 GAST
20 nutritional optic neuropathy 10.5 GAST SST
21 pandas 10.4 GAST SST
22 perianal hematoma 10.4 GAST SST
23 trabecular follicular adenocarcinoma 10.4 AIRE SST
24 mental retardation, autosomal recessive 53 10.4 GAST SST
25 bile duct cystadenocarcinoma 10.4 GAST SST
26 bronchiectasis 10.4 AIRE SST
27 gastric gastrinoma 10.4 GAST SST
28 iris mixed cell melanoma 10.4 GAST SST
29 primary progressive multiple sclerosis 10.4 GAST SST
30 lung giant cell carcinoma 10.4 GAST SST
31 volkmann contracture 10.4 GAST SST
32 epilepsy with generalized tonic-clonic seizures 10.3 GAST SST
33 kartagener syndrome 10.3 GAST SST
34 acquired aneurysmal subarachnoid hemorrhage 10.3 GAST SST
35 autoinflammation with arthritis and dyskeratosis 10.2 AIRE TPO
36 atrophic gastritis 10.2
37 retinal vascular occlusion 10.2 GAST SST
38 mediastinum leiomyoma 10.2 GIF TG
39 adenohypophysitis 10.2 TG TPO
40 fallopian tube leiomyoma 10.2 GAST TG
41 maxillary sinus adenoid cystic carcinoma 10.2 TG TPO
42 rhabdomyosarcoma, embryonal, 2 10.2 TG TPO
43 sweat gland cancer 10.2 GAST SST
44 nephrogenic systemic fibrosis 10.2 TG TPO
45 background diabetic retinopathy 10.2 TG TPO
46 fibrosarcomatous osteosarcoma 10.2 GAST GIF SST
47 tick paralysis 10.2 TG TPO
48 chronic frontal sinusitis 10.1 TG TPO
49 hypermobility syndrome 10.1 AIRE TPO
50 microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 10.1 AIRE FUT2

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:

32
id Description HPO Frequency HPO Source Accession
1 megaloblastic anemia 32 HP:0001889
2 malabsorption of vitamin b12 32 HP:0200118

Drugs & Therapeutics for Pernicious Anemia

Drugs for Pernicious Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 5460373 44475014
2
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
3
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5 Hematinics Phase 2
6 Micronutrients Phase 2
7 Trace Elements Phase 2
8 Vitamin B 12 Phase 2
9 Vitamin B Complex Phase 2
10 Vitamins Phase 2
11 Analgesics Phase 2
12 Analgesics, Non-Narcotic Phase 2
13 Angiogenesis Inhibitors Phase 2
14 Angiogenesis Modulating Agents Phase 2
15 Anti-Bacterial Agents Phase 2
16 Anti-Infective Agents Phase 2
17 Anti-Inflammatory Agents Phase 2
18 Anti-Inflammatory Agents, Non-Steroidal Phase 2
19 Antirheumatic Agents Phase 2
20 Immunosuppressive Agents Phase 2
21 Peripheral Nervous System Agents Phase 2
22
Cobalamin Nutraceutical Phase 2 13408-78-1 6438156
23 Folate Nutraceutical Phase 2
24
Methylcobalamin Experimental, Nutraceutical Phase 2 13422-55-4
25 Vitamin B12 Nutraceutical Phase 2
26 Vitamin B9 Nutraceutical Phase 2
27 Antibodies
28 Immunoglobulins

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Oral Vitamin B12 Administration for Vitamin B12 Deficiency After Total Gastrectomy Completed NCT00699478 Phase 2 mecobalamin
2 Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Recruiting NCT03123016 Phase 2 Apremilast
3 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 69 / NDF-RT 48 :


Cochrane evidence based reviews: anemia, pernicious

Genetic Tests for Pernicious Anemia

Anatomical Context for Pernicious Anemia

MalaCards organs/tissues related to Pernicious Anemia:

39
Testes, Thyroid, Lung, Bone, Bone Marrow, Small Intestine, Prostate

Publications for Pernicious Anemia

Articles related to Pernicious Anemia:

(show top 50) (show all 557)
id Title Authors Year
1
Intra-abdominal abscesses by Lactococcus lactis ssp cremoris in an immunocompetent adult with severe periodontitis and pernicious anemia. ( 28050349 )
2017
2
Pseudo-thrombotic thrombocytopenic purpura presenting as multi-organ dysfunction syndrome: A rare complication of pernicious anemia. ( 28620491 )
2017
3
Pernicious anemia: Fundamental and practical aspects in diagnosis. ( 28164751 )
2017
4
Pseudothrombotic microangiopathy and vitamin B12 deficiency in pernicious anemia. ( 28670082 )
2017
5
Acquired Thrombotic Thrombocytopenic Purpura in a Patient with Pernicious Anemia. ( 28473932 )
2017
6
A case of pernicious anemia requiring differential diagnosis of autoimmune hemolytic anemia complication. ( 28948030 )
2017
7
Venous thromboembolism and hyperhomocysteinemia as first manifestation of pernicious anemia: a case series. ( 28863787 )
2017
8
Pernicious Anemia Associated Cobalamin Deficiency and Thrombotic Microangiopathy: Case Report and Review of the Literature. ( 28265287 )
2017
9
Pathophysiology and laboratory diagnosis of pernicious anemia. ( 27538411 )
2016
10
Differentiation of pernicious anemia from thrombotic thrombocytopenic purpura: The clinical value of subtle pathologic findings. ( 27765664 )
2016
11
A case of asymptomatic pancytopenia with clinical features of hemolysis as a presentation of pernicious anemia. ( 27609735 )
2016
12
Pernicious anemia and colorectal cancer risk - A nested case-control study. ( 27481584 )
2016
13
Pernicious Anemia: Another Interesting Analytic Finding. ( 27554965 )
2016
14
Oral Vitamin B12 Replacement for the Treatment of Pernicious Anemia. ( 27602354 )
2016
15
Pernicious Anemia with Autoimmune Hemolytic Anemia: A Case Report and Literature Review. ( 27559485 )
2016
16
Pernicious Anemia, Atrophic Gastritis, and the Risk of Cancer. ( 26192144 )
2015
17
Cancer Risk After Pernicious Anemia in the US Elderly Population. ( 26079040 )
2015
18
An Unexpected Mucosal Metaplasia at the Gastric Cardia in Longstanding Pernicious Anemia. ( 26465909 )
2015
19
Advances in mechanisms, diagnosis, and treatment of pernicious anemia. ( 25828519 )
2015
20
Postoperative elevation of CA15-3 due to pernicious anemia in a patient without evidence of breast cancer recurrence. ( 26943450 )
2015
21
Risk of community-acquired pneumonia in patients with a diagnosis of pernicious anemia: a population-based retrospective cohort study. ( 26225868 )
2015
22
Pernicious anemia presenting as catatonia: correlating vitamin B12 levels and catatonic symptoms. ( 25774050 )
2015
23
Pernicious Anemia: Time to Justify Endoscopic Monitoring? ( 26240006 )
2015
24
Pernicious anemia: diagnosis and course in Burkina Faso. ( 25787024 )
2015
25
Hematinic deficiencies and pernicious anemia in oral mucosal disease patients withA macrocytosis. ( 25935499 )
2015
26
Pernicious anemia. From past to present. ( 25680481 )
2015
27
George Minot and Pernicious Anemia. ( 27604448 )
2015
28
COEXISTENCE OF ADDISON'S DISEASE AND PERNICIOUS ANEMIA: IS THE NEW CLASSIFICATION OF AUTOIMMUNE POLYGLANDULAR SYNDROME APPROPRIATE? ( 26415323 )
2015
29
Type 1 Diabetes Mellitus and Pernicious Anemia in an Elderly Japanese Patient: A Case Report and Literature Review. ( 26370862 )
2015
30
Do all the patients with vitamin B12 deficiency have pernicious anemia? ( 25990467 )
2015
31
Spurious laboratory alterations in pernicious anemia. ( 26670405 )
2015
32
Pernicious anemia: Normal ferritin levels and possible hidden iron deficiency. ( 26298545 )
2015
33
Diagnosis and Classification of Pernicious Anemia. ( 24424200 )
2014
34
Diagnosis of pernicious anemia and the risk of pancreatic cancer. ( 24622073 )
2014
35
Portal, superior mesenteric and splenic vein thrombosis secondary to hyperhomocysteinemia with pernicious anemia: a case report. ( 25155131 )
2014
36
Treatment of pernicious anemia: Which is the best option? ( 24657514 )
2014
37
Prevalence of pernicious anemia in patients with macrocytic anemia and low serum B12. ( 25674111 )
2014
38
CarcinoA^d tumor revealing pernicious anemia. ( 25767671 )
2014
39
Pernicious anemia with spuriously normal vitamin B12 level might be misdiagnosed as myelodysplastic syndrome. ( 24630920 )
2014
40
Oral cobalamin (vitamin B12) therapy in pernicious anemia. ( 24503031 )
2014
41
Vitamin B12 and pernicious anemia--the dawn of molecular medicine. ( 24552327 )
2014
42
High Percentage of Regulatory T Cells before and after Vitamin B12 Treatment in Patients with Pernicious Anemia. ( 25170761 )
2014
43
A multicenter retrospective analysis of the clinical features of pernicious anemia in a Korean population. ( 23400269 )
2013
44
Very unusual presentation of pernicious anemia with schistocytes in peripheral blood. ( 24455779 )
2013
45
Do all the patients with gastric parietal cell antibodies have pernicious anemia? ( 22957902 )
2013
46
Masked pernicious anemia: a literature review and case presentation. ( 24902327 )
2013
47
Falsely elevated cobalamin concentration in multiple assays in a patient with pernicious anemia: a case study. ( 23729575 )
2013
48
In Japanese patients with type A gastritis with pernicious anemia the condition is very poorly associated with Helicobacter pylori infection. ( 23053499 )
2013
49
Anti-parietal cell antibodies and pernicious anemia in patients with type 1 diabetes mellitus and multiethnic background. ( 24083984 )
2013
50
Huge dose vitamin B12 (vit B12) treatment for pernicious anemia. ( 24385796 )
2013

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:

id Super pathways Score Top Affiliating Genes
1 10.64 GIF TCN2
2 10.14 GIF TCN1 TCN2
3 10 GAST GIF
4 9.73 TG TPO

GO Terms for Pernicious Anemia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 GAST GIF SST TCN1 TCN2 TG
2 extracellular space GO:0005615 9.1 GAST GIF SST TCN1 TCN2 TPO

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

id Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 9.33 GIF TCN1 TCN2
2 hormone biosynthetic process GO:0042446 9.26 TG TPO
3 cobalamin transport GO:0015889 9.13 GIF TCN1 TCN2
4 cobalt ion transport GO:0006824 8.8 GIF TCN1 TCN2

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 GAST SST TG
2 cobalamin binding GO:0031419 8.8 GIF TCN1 TCN2

Sources for Pernicious Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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