Pernicious Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

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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:

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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

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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

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Genetic Tests for Pernicious Anemia

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Anatomical Context for Pernicious Anemia

Organs/tissues related to Pernicious Anemia:

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

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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	Carmel R...Johnson CS	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	McIntyre PA	5648177	1968
3	A famiy study of pernicious anaemia. I. Autoantibodies, achlorhydria, serum pepsinogen and vitamin B12. ⁶² ⁵⁷	Wangel AG...Wright R	4865547	1968
4	A family study of pernicious anaemia. II. Intrinsic factor secretion, vitamin B12 absorption and genetic aspects of gastric autoimmunity. ⁶² ⁵⁷	Wangel AG...Wright R	5635601	1968
5	Genetic factors in predisposition to pernicious anemia. ⁶² ⁵⁷	McINTYRE PA...GLASS B	13662715	1959
6	Correspondence (letter to the editor): Gastrin levels in pernicious anemia. ⁵³ ⁶²	Koch CA	19547631	2009
7	Combined megaloblastic and immunohemolytic anemia associated--a case report. ⁵³ ⁶²	Vucelic V...Carzavec D	19388472	2008
8	Production, secretion, and biological activity of the C-terminal flanking peptide of human progastrin. ⁵³ ⁶²	Smith KA...Shulkes A	17101322	2006
9	Long-term effects of elevated gastrin levels on calcitonin secretion. ⁵³ ⁶²	Erdogan MF...Kulaksizoglu M	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	Lehy T...Mignon M	10738314	2000
11	Gastrin biosynthesis in the antrum of patients with pernicious anemia. ⁵³ ⁶²	Varro A...Thompson DG	9041234	1997
12	[Combined endocrine autoimmune syndrome--incidence, forms of manifestation and clinical significance]. ⁵³ ⁶²	Weyermann D...Staub JJ	7973530	1994
13	Bispecific thyroglobulin and thyroperoxidase autoantibodies in patients with various thyroid and autoimmune diseases. ⁵³ ⁶²	Ruf J...Carayon P	7962336	1994
14	Reciprocal changes in antral gastrin and somatostatin mRNA in pernicious anemia. ⁵³ ⁶²	Moss SF...Calam J	7906222	1994
15	Rapid regression of enterochromaffinlike cell gastric carcinoids in pernicious anemia after antrectomy. ⁵³ ⁶²	Hirschowitz BI...Cummings OW	1551550	1992
16	24-hour intragastric acidity and plasma gastrin after omeprazole treatment and after proximal gastric vagotomy in duodenal ulcer patients. ⁵³ ⁶²	Lind T...Olbe L	2227275	1990
17	Absence of a gastrin inhibitory factor in the IgG fraction of serum from patients with pernicious anaemia. ⁵³ ⁶²	Smith JT...Pounder RE	2387508	1990
18	Autoimmune conditions and pancreatic cancer risk in older American adults. ⁶²	Yuan F...Stolzenberg-Solomon RZ	36059225	2023
19	Patient safety, self-injection, and B12 deficiency: a UK cross-sectional survey. ⁶²	Tyler N...Panagioti M	36192360	2022
20	An Expert Opinion/Approach: Clinical Presentations, Diagnostic Considerations, and Therapeutic Options for Gastrointestinal Manifestations of Common Variable Immune Deficiency. ⁶²	Hashash JG...Farraye FA	36148549	2022
21	Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns. ⁶²	Martin-Rivada A...Pedron-Giner C	36112821	2022
22	Protein-losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency. ⁶²	Sanges S...Lefevre G	35737255	2022
23	Gender-sex differences in autoimmune atrophic gastritis. ⁶²	Lahner E...Annibale B	35470008	2022
24	Type 1 Diabetes Mellitus and Multiple Sclerosis: An Association to Consider. ⁶²	Almeida C...Nascimento E	36447698	2022
25	Pernicious anemia - Diagnosis, treatment, and clinical outcome of a case. ⁶²	Chiang JL...Chiang CP	36299305	2022
26	Atopic dermatitis and risk of autoimmune conditions: Population-based cohort study. ⁶²	de Lusignan S...Flohr C	35469843	2022
27	Novel Fluorescent Nano Carbon Quantum Dots Derived From Lactarius Hatsudake for High Selective Vitamin B12 Detection. ⁶²	Xiang Y...Tu Y	35244160	2022
28	Hyperhomocysteinemia in cardiovascular diseases: revisiting observational studies and clinical trials. ⁶²	Gueant JL...Rosenberg I	36170884	2022
29	New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden. ⁶²	Bugala NM...Alexandru DO	36140482	2022
30	Research priorities in pernicious anaemia: James Lind Alliance Priority Setting Partnership. ⁶²	Staley K...Hooper M	36002205	2022
31	Rare case of pernicious anaemia from a university hospital of Nepal: A case report. ⁶²	Shrestha SR...Katwal P	36045793	2022
32	Autoimmune polyendocrine syndrome type 1: Clinical manifestations, pathogenetic features, and management approach. ⁶²	Bjorklund G...Pivina L	35690244	2022
33	Physical health status in first-degree relatives of patients with bipolar disorder, a systematic review. ⁶²	Madsen LH...Vinberg M	34762016	2022
34	Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study. ⁶²	Kjaergaard AD...Ellervik C	35225327	2022
35	Aggregation of autoimmunity in extended families of people with autoimmune Addison disease. ⁶²	Fichna M...Ruchala M	33955139	2022
36	Approach to Pancytopenia in a Deployed Service Member. ⁶²	Gibson SJ...Zeman KG	36425352	2022
37	A case report: subacute combined degeneration of the spinal cord and pernicious anemia caused by autoimmune gastritis. ⁶²	Sun Z...Yu X	35777065	2022
38	Autoimmune polyglandular syndrome type 2: A case report. ⁶²	Bakkour A...Alhussein H	35600201	2022
39	Severe weight loss in a hypothyroid patient as an acute presentation of autoimmune polyglandular syndrome type II. ⁶²	Silajdzija E...Feldt-Rasmussen U	35182386	2022
40	Advanced diffuse gastric adenocarcinoma in young Syrian woman. A case report. ⁶²	Alhalabi MM...Albattah ME	35600190	2022
41	[Vitamin B12 deficiency in an infant child of a mother with pernicious anemia]. ⁶²	Dapueto G...Garcia L	35857012	2022
42	Autoimmune polyglandular syndrome type II presenting as subacute combined degeneration of spinal cord: a neuroendocrinology crossroad. ⁶²	Bapat P...Seth V	34958534	2022
43	A Case Report of Autoimmune Phenomena With Underlying Breast Cancer: Occam's Razor Versus Hickam's Dictum. ⁶²	Saxena P...McFarlane SI	35800793	2022
44	Effects of vitamin B12 supplementation on pain relief in certain diseases - a literature review. ⁶²	Furgala R...Stompor M	35451593	2022
45	[Clinical management of autoimmune gastritis]. ⁶²	Venerito M...Jechorek D	35405749	2022
46	COVID-19 and One-Carbon Metabolism. ⁶²	Perla-Kajan J...Jakubowski H	35456998	2022
47	Pernicious Anemia: The Hematological Presentation of a Multifaceted Disorder Caused by Cobalamin Deficiency. ⁶²	Esposito G...Lahner E	35458234	2022
48	Falsely elevated serum vitamin B12 levels in a case of pernicious anemia. ⁶²	Thong EWS...Jen WY	34505941	2022
49	Case Report: COVID Associated Pancytopenia Unmasking Previously Undiagnosed Pernicious Anemia. ⁶²	Barranco-Trabi JJ...Masel J	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	Cluff E...Khurana S	35335082	2022

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Genes for Pernicious Anemia

Genes related to Pernicious Anemia (0 elite genes):

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CBLIF	Cobalamin Binding Intrinsic Factor	Protein Coding	34.3	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
2	GAST	Gastrin	Protein Coding	25.78	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7906222 9041234 1551550 (more) 2387508 17101322 19388472 10738314 17114906 7973530 2227275 19547631
3	AIRE	Autoimmune Regulator	Protein Coding	15.29	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
4	TPO	Thyroid Peroxidase	Protein Coding	13.67	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7962336
5	SST	Somatostatin	Protein Coding	12.66	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
6	TG	Thyroglobulin	Protein Coding	11.83	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7962336
7	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	8.47	DISEASES inferred ¹⁴ ¹⁴
8	ATP4A	ATPase H+/K+ Transporting Subunit Alpha	Protein Coding	7.27	DISEASES inferred ¹⁴
9	ATP12A	ATPase H+/K+ Transporting Non-Gastric Alpha2 Subunit	Protein Coding	7.22	DISEASES inferred ¹⁴
10	TCN2	Transcobalamin 2	Protein Coding	7.13	DISEASES inferred ¹⁴
11	TCN1	Transcobalamin 1	Protein Coding	7.11	DISEASES inferred ¹⁴
12	NUDT10	Nudix Hydrolase 10	Protein Coding	7.07	DISEASES inferred ¹⁴
13	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	6.4	DISEASES inferred ¹⁴
14	GAD2	Glutamate Decarboxylase 2	Protein Coding	6.35	DISEASES inferred ¹⁴
15	CHGA	Chromogranin A	Protein Coding	6.25	DISEASES inferred ¹⁴
16	PTPN22	Protein Tyrosine Phosphatase Non-Receptor Type 22	Protein Coding	6.12	DISEASES inferred ¹⁴
17	TNFRSF25	TNF Receptor Superfamily Member 25	Protein Coding	6.02	DISEASES inferred ¹⁴
18	CBL	Cbl Proto-Oncogene	Protein Coding	5.93	DISEASES inferred ¹⁴
19	INS	Insulin	Protein Coding	5.79	DISEASES inferred ¹⁴
20	AMN	Amnion Associated Transmembrane Protein	Protein Coding	5.78	DISEASES inferred ¹⁴
21	PTPRN	Protein Tyrosine Phosphatase Receptor Type N	Protein Coding	5.78	DISEASES inferred ¹⁴
22	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	5.76	DISEASES inferred ¹⁴ ¹⁴
23	CD4	CD4 Molecule	Protein Coding	5.75	DISEASES inferred ¹⁴
24	TOR1A	Torsin Family 1 Member A	Protein Coding	5.69	DISEASES inferred ¹⁴

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Variations for Pernicious Anemia

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Expression for Pernicious Anemia

Search GEO for disease gene expression data for Pernicious Anemia.

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Pathways for Pernicious Anemia

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 Biotin metabolism, including IMDs ⁷⁴ Biotin transport and metabolism ⁶⁶ Coenzyme A biosynthesis ⁶⁶ Defective BTD causes biotidinase deficiency ⁶⁶ Defective HLCS causes multiple carboxylase deficiency ⁶⁶ Defects in biotin (Btn) metabolism ⁶⁶ Metabolism of cofactors ⁶⁶ Metabolism of folate and pterines ⁶⁶ Metabolism of vitamins and cofactors ⁶⁶ molybdenum cofactor biosynthesis ⁶¹ Molybdenum cofactor biosynthesis ⁶⁶ Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation ⁶⁶ thiamin salvage III ⁶¹ Ubiquinol biosynthesis ⁶⁶ Vitamin B1 (thiamin) metabolism ⁶⁶ Vitamin B2 (riboflavin) metabolism ⁶⁶ Vitamin B5 (pantothenate) metabolism ⁶⁶ Vitamin C (ascorbate) metabolism ⁶⁶ Vitamins B6 activation to pyridoxal phosphate ⁶⁶	12.32	TCN2 TCN1 MTR CBLIF AMN
2	Cobalamin (Cbl, vitamin B12) transport and metabolism ⁶⁶ Show member pathways Cobalamin (Cbl) metabolism ⁶⁶ Defective ABCD4 causes MAHCJ ⁶⁶ Defective CD320 causes MMATC ⁶⁶ Defective MMAB causes MMA, cblB type ⁶⁶ Defective MMACHC causes MAHCC ⁶⁶ Defective MMADHC causes MMAHCD ⁶⁶ Defective TCN2 causes TCN2 deficiency ⁶⁶ Defects in cobalamin (B12) metabolism ⁶⁶ Defects in vitamin and cofactor metabolism ⁶⁶ Transport of RCbl within the body ⁶⁶ Uptake of dietary cobalamins into enterocytes ⁶⁶ Vitamin B12 disorders ⁷⁴	11.04	TCN2 TCN1 MTR CBLIF AMN
3	Genes associated with the development of rheumatoid arthritis ⁷⁴	10.58	PTPN22 CCR6
4	Vitamin B12 metabolism ⁷⁴	10.09	TCN2 TCN1 CBLIF
5	Defective CUBN causes MGA1 ⁶⁶ Show member pathways Defective AMN causes MGA1 ⁶⁶ Defective CBLIF causes IFD ⁶⁶	10	CBLIF AMN

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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

Sources for Pernicious Anemia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: PRN011 MIFTS: 54	Pernicious Anemia Categories: Blood diseases, Gastrointestinal diseases, Metabolic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Pernicious Anemia

Aliases & Classifications for Pernicious Anemia

MalaCards integrated aliases for Pernicious Anemia:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Pernicious Anemia

Related Diseases for Pernicious Anemia

Diseases related to Pernicious Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

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

Graphical network of the top 20 diseases related to Pernicious Anemia:

Symptoms & Phenotypes for Pernicious Anemia

Human phenotypes related to Pernicious Anemia:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Symptoms:

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

MGI Mouse Phenotypes related to Pernicious Anemia:

Drugs & Therapeutics for Pernicious Anemia

PubMed Health treatment related to Pernicious Anemia: 63

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

Interventional clinical trials:

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Cochrane evidence based reviews: anemia, pernicious

Genetic Tests for Pernicious Anemia

Anatomical Context for Pernicious Anemia

Organs/tissues related to Pernicious Anemia:

Publications for Pernicious Anemia

Articles related to Pernicious Anemia:

Genes for Pernicious Anemia

Genes related to Pernicious Anemia (0 elite genes):

Variations for Pernicious Anemia

Expression for Pernicious Anemia

Pathways for Pernicious Anemia

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

GO Terms for Pernicious Anemia

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

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

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

Sources for Pernicious Anemia

PubMed Health treatment related to Pernicious Anemia: ⁶³

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :