Details of Disease

General Information of Disease (ID: DISWV404)

• Disease Name: Pernicious anemia
• Synonyms: Addison anaemia; intrinsic factor deficiency; juvenile onset pernicious anaemia; Addison's anaemia; Biermer disease; pernicious anemia; Addison-Biermer anaemia; Addison-Biermer anemia; Biermer anemia; anaemia pernicious; juvenile onset pernicious anemia; Biermer anaemia; Biermer's anaemia; acquired pernicious anemia; Addison's anemia; acquired pernicious anaemia; anemia pernicious; Biermer's anemia; Addison anemia
• Definition: Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS1UUNY: Malnutrition
  DISVIZPC: Megaloblastic anemia
  DISWV404: Pernicious anemia
• Disease Identifiers:
  MONDO ID: MONDO_0008228
  MESH ID: D000752
  UMLS CUI: C0002892
  OMIM ID: 170900
  MedGen ID: 1531
  Orphanet ID: 120
  SNOMED CT ID: 84027009

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cyanocobalamin	DMYY0AJ	Approved	NA	[1]
Hydroxocobalamin	DMGKV9D	Approved	Small molecular drug	[2]

This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
[3H]thiamine	DMSHW2E	Investigative	Small molecular drug	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CBLIF	OTNE20WU	Limited	Biomarker	[4]
MT3	OTVCZ7HI	moderate	Genetic Variation	[5]
TCN2	OT41D0L3	moderate	Genetic Variation	[6]
ATP4B	OTIP2EYJ	Strong	Biomarker	[7]
FUT6	OTBZUQ7F	Strong	Genetic Variation	[6]

References

• [1] Cyanocobalamin FDA Label
• [2] Hydroxocobalamin FDA Label
• [3] A standard database for drug repositioning. Sci Data. 2017 Mar 14;4:170029.
• [4] High frequency of anti-parietal cell antibody (APCA) and intrinsic factor blocking antibody (IFBA) in individuals with severe vitamin B12 deficiency - an observational study in primary care patients.Clin Chem Lab Med. 2020 Feb 25;58(3):424-429. doi: 10.1515/cclm-2019-0749.
• [5] Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant.Biochimie. 2013 May;95(5):995-1001. doi: 10.1016/j.biochi.2013.01.022. Epub 2013 Feb 8.
• [6] Single nucleotide polymorphisms related to vitamin B12 serum levels in autoimmune gastritis patients with or without pernicious anaemia.Dig Liver Dis. 2015 Apr;47(4):285-90. doi: 10.1016/j.dld.2015.01.147. Epub 2015 Jan 22.
• [7] Measurement of Autoantibodies to Gastric H+,K+-ATPase (ATP4A/B) Using a Luciferase Immunoprecipitation System (LIPS).Methods Mol Biol. 2019;1901:113-131. doi: 10.1007/978-1-4939-8949-2_10.