Details of Disease

General Information of Disease (ID: DISAWKYI)

• Disease Name: Vitamin D deficiency
• Synonyms: avitaminosis D, NOS; deficiencies, vitamin D; vitamin D deficiency (disorder); vitamin D insufficiency; vitamin D deficiency, NOS; vitamin D deficiencies; deficiency, vitamin D; DEFIC VITAMIN D; VITAMIN D DEFIC; deficiency of vitamin D (disorder); avitaminosis D
• Disease Class: 5B55-5B5F: Vitamin deficiency
• Definition: Abnormally low level of 25-hydroxyvitamin D in the blood.
• Disease Hierarchy:
  DISD07I9: Vitamin deficiency
  DISAWKYI: Vitamin D deficiency
• ICD Code:
  ICD-11: ICD-11: 5B57
  ICD-10: ICD-10: E55, E55.9
  ICD-9: ICD-9: 268
  Expand ICD-11: '5B57
  Expand ICD-10: 'E55; 'E55.9
  Expand ICD-9: 268
• Disease Identifiers:
  MONDO ID: MONDO_0100471
  MESH ID: D014808
  UMLS CUI: C0042870
  MedGen ID: 12114
  HPO ID: HP:0100512
  SNOMED CT ID: 34713006

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 3 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Calcidiol	DMN4CV5	Approved	Small molecular drug	[1]
Cholecalciferol	DMGU74E	Approved	Small molecular drug	[2]
Ergocalciferol	DMHO0AR	Approved	Small molecular drug	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 14 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
REN	TTB2MXP	Limited	Biomarker	[4]
COASY	TT4YO0Z	Disputed	Altered Expression	[5]
APOL1	TTDB8PW	Strong	SusceptibilityMutation	[6]
FGF23	TT2IZ4K	Strong	Altered Expression	[7]
GALC	TT5IZRB	Strong	Biomarker	[8]
GRM7	TT0I76D	Strong	Altered Expression	[9]
IFNL3	TTRF4Q2	Strong	Genetic Variation	[10]
LRP2	TTPH1AJ	Strong	Genetic Variation	[11]
PGC	TT7K6AD	Strong	Biomarker	[12]
SLC10A1	TTWZRY5	Strong	Genetic Variation	[13]
SLC22A8	TTTQR47	Strong	Altered Expression	[14]
SOST	TTYRO4F	Strong	Altered Expression	[15]
TRPM6	TTV76RD	Strong	Altered Expression	[16]
CYP24A1	TT82UI1	Definitive	Genetic Variation	[17]

This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC20A2	DTFD4VB	Strong	Genetic Variation	[18]
SLC26A3	DTN1FMD	Strong	Biomarker	[19]
SLC34A1	DT42EWA	Strong	Genetic Variation	[20]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP27B1	DE3FYEM	Strong	Genetic Variation	[21]
CYP7A1	DEDZRQ1	Strong	Biomarker	[14]

This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
STX16	OTM7TAOE	Disputed	Altered Expression	[5]
GC	OTWS63BY	moderate	Genetic Variation	[22]
AFG3L2	OTRPMAUX	Strong	CausalMutation	[23]
BEST1	OTWHE1ZC	Strong	Genetic Variation	[24]
BGLAP	OTK1YLWQ	Strong	Altered Expression	[25]
DMP1	OTBWBWW7	Strong	Biomarker	[26]
FETUB	OT7V07NI	Strong	Biomarker	[27]
IBSP	OT29944Y	Strong	Altered Expression	[28]
MALRD1	OTCAAPVO	Strong	Biomarker	[29]
MS4A2	OTMCAS2D	Strong	Genetic Variation	[30]
MYH1	OT8YBDOT	Strong	Altered Expression	[31]
NPAS2	OTMRT2TS	Strong	Altered Expression	[32]
PHEX	OTG7N3J7	Strong	Biomarker	[26]
RETN	OTW5Z1NH	Strong	Biomarker	[33]
TNNT1	OT8PBOAR	Strong	Altered Expression	[31]
SACS	OTZGXQ8A	Definitive	Altered Expression	[34]

References

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• [2] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 2747).
• [3] Ergocalciferol FDA Label
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• [5] Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR.J Clin Endocrinol Metab. 2014 Apr;99(4):E724-8. doi: 10.1210/jc.2013-3704. Epub 2014 Jan 17.
• [6] Association of trypanolytic ApoL1 variants with kidney disease in African Americans.Science. 2010 Aug 13;329(5993):841-5. doi: 10.1126/science.1193032. Epub 2010 Jul 15.
• [7] Tumor-induced osteomalacia: experience from three tertiary care centers in India.Endocr Connect. 2019 Mar;8(3):266-276. doi: 10.1530/EC-18-0552.
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• [9] Vitamin D deficiency induces the excitation/inhibition brain imbalance and the proinflammatory shift.Int J Biochem Cell Biol. 2020 Feb;119:105665. doi: 10.1016/j.biocel.2019.105665. Epub 2019 Dec 9.
• [10] Vitamin D deficiency and vitamin D therapy in chronic hepatitis C.Ann Hepatol. 2013 Mar-Apr;12(2):199-204.
• [11] Vitamin D pathway gene polymorphisms influenced vitamin D level among pregnant women.Clin Nutr. 2018 Dec;37(6 Pt A):2230-2237. doi: 10.1016/j.clnu.2017.10.024. Epub 2017 Nov 7.
• [12] Vitamin D Deficiency Is Associated with Muscle Atrophy and Reduced Mitochondrial Function in Patients with Chronic Low Back Pain.Oxid Med Cell Longev. 2019 Jun 2;2019:6835341. doi: 10.1155/2019/6835341. eCollection 2019.
• [13] Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.Sci Rep. 2017 Aug 23;7(1):9214. doi: 10.1038/s41598-017-07012-2.
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• [17] Simultaneous measurement of 25(OH)-vitamin D and 24,25(OH)2-vitamin D to define cut-offs for CYP24A1 mutation and vitamin D deficiency in a population of 1200 young subjects.Clin Chem Lab Med. 2020 Jan 28;58(2):197-201. doi: 10.1515/cclm-2019-0996.
• [18] First report of a de novo mutation at SLC20A2 in a patient with brain calcification.J Mol Neurosci. 2014 Dec;54(4):748-51. doi: 10.1007/s12031-014-0357-9. Epub 2014 Jun 27.
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• [20] Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)(2) D(3) in Affected Patients.J Bone Miner Res. 2017 Jul;32(7):1589-1596. doi: 10.1002/jbmr.3135. Epub 2017 Apr 21.
• [21] Family-based Association between Allele T of rs4646536 in CYP27B1 and vitamin D deficiency.J Clin Lab Anal. 2019 Jul;33(6):e22898. doi: 10.1002/jcla.22898. Epub 2019 Apr 16.
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• [25] Vitamin D Deficiency Is Associated with Increased Osteocalcin Levels in Acute Aortic Dissection: A Pilot Study on Elderly Patients.Mediators Inflamm. 2017;2017:6412531. doi: 10.1155/2017/6412531. Epub 2017 Jul 2.
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• [29] Murine Pancreatic Acinar Cell Carcinoma Growth Kinetics Are Independent of Dietary Vitamin D Deficiency or Supplementation.Front Oncol. 2017 Jun 28;7:133. doi: 10.3389/fonc.2017.00133. eCollection 2017.
• [30] Evidence for a genetic interaction in allergy-related responsiveness to vitamin D deficiency.Allergy. 2012 Aug;67(8):1033-40. doi: 10.1111/j.1398-9995.2012.02856.x. Epub 2012 Jun 12.
• [31] Disrupted expression of genes essential for skeletal muscle fibre integrity and energy metabolism in Vitamin D deficient rats.J Steroid Biochem Mol Biol. 2020 Mar;197:105525. doi: 10.1016/j.jsbmb.2019.105525. Epub 2019 Nov 6.
• [32] Titanium biomaterials with complex surfaces induced aberrant peripheral circadian rhythms in bone marrow mesenchymal stromal cells.PLoS One. 2017 Aug 17;12(8):e0183359. doi: 10.1371/journal.pone.0183359. eCollection 2017.
• [33] Vitamin D Insufficiency in Overweight and Obese Children and Adolescents.Front Endocrinol (Lausanne). 2019 Mar 1;10:103. doi: 10.3389/fendo.2019.00103. eCollection 2019.
• [34] Human genetics: lessons from Quebec populations.Annu Rev Genomics Hum Genet. 2001;2:69-101. doi: 10.1146/annurev.genom.2.1.69.