Details of Disease

General Information of Disease (ID: DIS91UJ1)

• Disease Name: Vitamin B12 deficiency
• Synonyms: vitamin b12 deficiency; cobalamin deficiency; hypocobalaminemia
• Disease Class: 5B55-5B5F: Vitamin deficiency
• Definition: A disease characterized by low serum levels of vitamin B12, either inherited or acquired.
• Disease Hierarchy:
  DIS71G5H: Metabolic disorder
  DISH9AYM: Vitamin B deficiency
  DIS91UJ1: Vitamin B12 deficiency
• ICD Code:
  ICD-11: ICD-11: 5B5F
  ICD-10: ICD-10: E53.8
  ICD-9: ICD-9: 266.2
  Expand ICD-11: '5B5F
  Expand ICD-10: 'E53.8
  Expand ICD-9: 266.2
• Disease Identifiers:
  MONDO ID: MONDO_0020696
  MESH ID: D014806
  UMLS CUI: C0042847
  MedGen ID: 21880
  HPO ID: HP:0100502
  SNOMED CT ID: 190634004

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 4 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cyanocobalamin	DMYY0AJ	Approved	NA	[1]
Cyanocobalamin Co-57	DMLQY5G	Approved	NA	[2]
Cyanocobalamin Co-60	DMGZEE9	Approved	NA	[2]
Hydroxocobalamin	DMGKV9D	Approved	Small molecular drug	[3]

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	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MVK	TT5DFHW	Limited	Genetic Variation	[5]
CALR	TTUZ7OA	moderate	Biomarker	[6]
CD40LG	TTIJP3Q	moderate	Therapeutic	[7]
CD320	TT0KV32	Strong	Biomarker	[8]
CUBN	TT9YLCR	Strong	Genetic Variation	[9]
MTR	TTUTO39	Strong	Biomarker	[10]
SLC19A2	TT2A1DZ	Strong	Altered Expression	[11]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCD4	DTI8AFW	Strong	Biomarker	[12]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CBLIF	OTNE20WU	Limited	Biomarker	[13]
KCTD10	OT5HFZXU	Limited	Genetic Variation	[5]
TCN2	OT41D0L3	Limited	Genetic Variation	[14]
CFL1	OTT6D5MH	moderate	Biomarker	[6]
HCFC1	OT0UCK62	moderate	Altered Expression	[15]
MMACHC	OTX0TT3W	Strong	Genetic Variation	[15]
MMD	OTB5I4OC	Strong	Biomarker	[16]
PPBP	OT1FHGQS	Strong	Altered Expression	[11]
TCIM	OTARUXQF	Strong	Altered Expression	[11]
TCN1	OTW6A49Y	Strong	Altered Expression	[17]
THAP11	OTEMWLZ0	Strong	Biomarker	[18]

References

• [1] Cyanocobalamin FDA Label
• [2] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [3] FDA Approved Drug Products from FDA Official Website. 2009. Application Number: (ANDA) 085998.
• [4] A standard database for drug repositioning. Sci Data. 2017 Mar 14;4:170029.
• [5] Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.Lipids Health Dis. 2016 Oct 4;15(1):171. doi: 10.1186/s12944-016-0348-7.
• [6] Maternal micronutrient deficiency leads to alteration in the kidney proteome in rat pups.J Proteomics. 2015 Sep 8;127(Pt A):178-84. doi: 10.1016/j.jprot.2015.04.035. Epub 2015 May 14.
• [7] Increased levels of the CD40:CD40 ligand dyad in the cerebrospinal fluid of rats with vitamin B12(cobalamin)-deficient central neuropathy.J Neuroimmunol. 2006 Jul;176(1-2):24-33. doi: 10.1016/j.jneuroim.2006.04.002. Epub 2006 May 22.
• [8] Mice lacking the transcobalamin-vitamin B12 receptor, CD320, suffer from anemia and reproductive deficits when fed vitamin B12-deficient diet.Hum Mol Genet. 2018 Oct 15;27(20):3627-3640. doi: 10.1093/hmg/ddy267.
• [9] Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.J Am Soc Nephrol. 2011 Oct;22(10):1815-20. doi: 10.1681/ASN.2011040337. Epub 2011 Sep 8.
• [10] Advances in the understanding of cobalamin assimilation and metabolism.Br J Haematol. 2010 Jan;148(2):195-204. doi: 10.1111/j.1365-2141.2009.07937.x. Epub 2009 Oct 12.
• [11] Genomic mutations associated with mild and severe deficiencies of transcobalamin I (haptocorrin) that cause mildly and severely low serum cobalamin levels.Br J Haematol. 2009 Nov;147(3):386-91. doi: 10.1111/j.1365-2141.2009.07855.x. Epub 2009 Aug 17.
• [12] Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26.
• [13] 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.
• [14] An Analysis of Transcobalamin II Gene Polymorphisms and Serum Levels of Homocysteine, Folate and Vitamin B12 in Chinese Patients with Crohn's Disease.Dig Dis. 2017;35(5):463-471. doi: 10.1159/000471848. Epub 2017 May 5.
• [15] HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Hum Mol Genet. 2015 Jun 15;24(12):3335-47. doi: 10.1093/hmg/ddv083. Epub 2015 Mar 3.
• [16] Cobalamin deficiency presenting with thrombotic microangiopathy (TMA) features: A systematic review.Transfus Apher Sci. 2018 Feb;57(1):102-106. doi: 10.1016/j.transci.2018.01.003. Epub 2018 Jan 11.
• [17] Three family members with elevated plasma cobalamin, transcobalamin and soluble transcobalamin receptor (sCD320).Clin Chem Lab Med. 2013 Mar 1;51(3):677-82. doi: 10.1515/cclm-2012-0554.
• [18] X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.Pediatr Neurol. 2017 Jun;71:65-69. doi: 10.1016/j.pediatrneurol.2016.12.003. Epub 2017 Jan 7.