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Absence of intrinsic factor

MedGen UID:
867280
•Concept ID:
C4021641
•
Finding
Synonym: Intrinsic factor absent from gastric juice
 
HPO: HP:0005219

Definition

Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsence of intrinsic factor

Conditions with this feature

Hereditary intrinsic factor deficiency
MedGen UID:
235598
•Concept ID:
C1394891
•
Disease or Syndrome
Intrinsic factor deficiency (IFD), or congenital pernicious anemia, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100).
See: Condition Record
Intrinsic factor and r binder, combined congenital deficiency of
MedGen UID:
340942
•Concept ID:
C1855721
•
Disease or Syndrome
See: Condition Record
Hereditary intrinsic factor deficiency
Intrinsic factor and r binder, combined congenital deficiency of

Professional guidelines

PubMed

Ferroptosis: a new strategy for Chinese herbal medicine treatment of diabetic nephropathy.
Wei M, Liu X, Tan Z, Tian X, Li M, Wei J
Front Endocrinol (Lausanne) 2023;14:1188003. Epub 2023 Jun 9 doi: 10.3389/fendo.2023.1188003. PMID: 37361521Free PMC Article
Targeting Breast Cancer Stem Cells to Overcome Treatment Resistance.
Palomeras S, Ruiz-Martínez S, Puig T
Molecules 2018 Aug 30;23(9) doi: 10.3390/molecules23092193. PMID: 30200262Free PMC Article
The significance, assessment, and management of nonrestorative sleep in fibromyalgia syndrome.
Moldofsky H
CNS Spectr 2008 Mar;13(3 Suppl 5):22-6. doi: 10.1017/s1092852900026808. PMID: 18323770

Recent clinical studies

Etiology

Mass Spectrometric Profiling of HLA-B44 Peptidomes Provides Evidence for Tapasin-Mediated Tryptophan Editing.
Kaur A, Surnilla A, Zaitouna AJ, Mumphrey MB, Basrur V, Grigorova I, Cieslik M, Carrington M, Nesvizhskii AI, Raghavan M
J Immunol 2023 Nov 1;211(9):1298-1307. doi: 10.4049/jimmunol.2300232. PMID: 37737643Free PMC Article
Intestinal B cells license metabolic T-cell activation in NASH microbiota/antigen-independently and contribute to fibrosis by IgA-FcR signalling.
Kotsiliti E, Leone V, Schuehle S, Govaere O, Li H, Wolf MJ, Horvatic H, Bierwirth S, Hundertmark J, Inverso D, Zizmare L, Sarusi-Portuguez A, Gupta R, O'Connor T, Giannou AD, Shiri AM, Schlesinger Y, Beccaria MG, Rennert C, Pfister D, Öllinger R, Gadjalova I, Ramadori P, Rahbari M, Rahbari N, Healy ME, Fernández-Vaquero M, Yahoo N, Janzen J, Singh I, Fan C, Liu X, Rau M, Feuchtenberger M, Schwaneck E, Wallace SJ, Cockell S, Wilson-Kanamori J, Ramachandran P, Kho C, Kendall TJ, Leblond AL, Keppler SJ, Bielecki P, Steiger K, Hofmann M, Rippe K, Zitzelsberger H, Weber A, Malek N, Luedde T, Vucur M, Augustin HG, Flavell R, Parnas O, Rad R, Pabst O, Henderson NC, Huber S, Macpherson A, Knolle P, Claassen M, Geier A, Trautwein C, Unger K, Elinav E, Waisman A, Abdullah Z, Haller D, Tacke F, Anstee QM, Heikenwalder M
J Hepatol 2023 Aug;79(2):296-313. Epub 2023 May 22 doi: 10.1016/j.jhep.2023.04.037. PMID: 37224925Free PMC Article
NLRP3 Inflammasome in Metabolic-Associated Kidney Diseases: An Update.
Xiong W, Meng XF, Zhang C
Front Immunol 2021;12:714340. Epub 2021 Jul 8 doi: 10.3389/fimmu.2021.714340. PMID: 34305953Free PMC Article
Coagulation Testing in the Core Laboratory.
Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301
Cytokine signatures in hereditary fever syndromes (HFS).
Ibrahim JN, Jéru I, Lecron JC, Medlej-Hashim M
Cytokine Growth Factor Rev 2017 Feb;33:19-34. Epub 2016 Nov 22 doi: 10.1016/j.cytogfr.2016.11.001. PMID: 27916611

Diagnosis

Nonhematological Manifestations of Pernicious Anemia.
Oo TH
Discov Med 2022 Nov-Dec;34(173):165-169. PMID: 36476278
Integration of transcriptomics, proteomics, and metabolomics data to reveal HER2-associated metabolic heterogeneity in gastric cancer with response to immunotherapy and neoadjuvant chemotherapy.
Yuan Q, Deng D, Pan C, Ren J, Wei T, Wu Z, Zhang B, Li S, Yin P, Shang D
Front Immunol 2022;13:951137. Epub 2022 Aug 4 doi: 10.3389/fimmu.2022.951137. PMID: 35990657Free PMC Article
Growth Hormone Stimulation Testing: To Test or Not to Test? That Is One of the Questions.
Yau M, Rapaport R
Front Endocrinol (Lausanne) 2022;13:902364. Epub 2022 Jun 9 doi: 10.3389/fendo.2022.902364. PMID: 35757429Free PMC Article
NLRP3 Inflammasome in Metabolic-Associated Kidney Diseases: An Update.
Xiong W, Meng XF, Zhang C
Front Immunol 2021;12:714340. Epub 2021 Jul 8 doi: 10.3389/fimmu.2021.714340. PMID: 34305953Free PMC Article
Coagulation Testing in the Core Laboratory.
Winter WE, Flax SD, Harris NS
Lab Med 2017 Nov 8;48(4):295-313. doi: 10.1093/labmed/lmx050. PMID: 29126301

Therapy

The bladder cancer immune micro-environment in the context of response to immune checkpoint inhibition.
van Dorp J, van der Heijden MS
Front Immunol 2023;14:1235884. Epub 2023 Aug 31 doi: 10.3389/fimmu.2023.1235884. PMID: 37727793Free PMC Article
Ferroptosis: a new strategy for Chinese herbal medicine treatment of diabetic nephropathy.
Wei M, Liu X, Tan Z, Tian X, Li M, Wei J
Front Endocrinol (Lausanne) 2023;14:1188003. Epub 2023 Jun 9 doi: 10.3389/fendo.2023.1188003. PMID: 37361521Free PMC Article
Intestinal B cells license metabolic T-cell activation in NASH microbiota/antigen-independently and contribute to fibrosis by IgA-FcR signalling.
Kotsiliti E, Leone V, Schuehle S, Govaere O, Li H, Wolf MJ, Horvatic H, Bierwirth S, Hundertmark J, Inverso D, Zizmare L, Sarusi-Portuguez A, Gupta R, O'Connor T, Giannou AD, Shiri AM, Schlesinger Y, Beccaria MG, Rennert C, Pfister D, Öllinger R, Gadjalova I, Ramadori P, Rahbari M, Rahbari N, Healy ME, Fernández-Vaquero M, Yahoo N, Janzen J, Singh I, Fan C, Liu X, Rau M, Feuchtenberger M, Schwaneck E, Wallace SJ, Cockell S, Wilson-Kanamori J, Ramachandran P, Kho C, Kendall TJ, Leblond AL, Keppler SJ, Bielecki P, Steiger K, Hofmann M, Rippe K, Zitzelsberger H, Weber A, Malek N, Luedde T, Vucur M, Augustin HG, Flavell R, Parnas O, Rad R, Pabst O, Henderson NC, Huber S, Macpherson A, Knolle P, Claassen M, Geier A, Trautwein C, Unger K, Elinav E, Waisman A, Abdullah Z, Haller D, Tacke F, Anstee QM, Heikenwalder M
J Hepatol 2023 Aug;79(2):296-313. Epub 2023 May 22 doi: 10.1016/j.jhep.2023.04.037. PMID: 37224925Free PMC Article
Strategies to neutralize RhoA/ROCK pathway after spinal cord injury.
Roy A, Pathak Z, Kumar H
Exp Neurol 2021 Sep;343:113794. Epub 2021 Jun 22 doi: 10.1016/j.expneurol.2021.113794. PMID: 34166685
Targeting Breast Cancer Stem Cells to Overcome Treatment Resistance.
Palomeras S, Ruiz-Martínez S, Puig T
Molecules 2018 Aug 30;23(9) doi: 10.3390/molecules23092193. PMID: 30200262Free PMC Article

Prognosis

Mass Spectrometric Profiling of HLA-B44 Peptidomes Provides Evidence for Tapasin-Mediated Tryptophan Editing.
Kaur A, Surnilla A, Zaitouna AJ, Mumphrey MB, Basrur V, Grigorova I, Cieslik M, Carrington M, Nesvizhskii AI, Raghavan M
J Immunol 2023 Nov 1;211(9):1298-1307. doi: 10.4049/jimmunol.2300232. PMID: 37737643Free PMC Article
Tumor intrinsic and extrinsic functions of CD73 and the adenosine pathway in lung cancer.
Kowash RR, Akbay EA
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The relationship between autophagy and PD-L1 and their role in antitumor therapy.
Cui Y, Shi J, Cui Y, Zhu Z, Zhu W
Front Immunol 2023;14:1093558. Epub 2023 Mar 15 doi: 10.3389/fimmu.2023.1093558. PMID: 37006252Free PMC Article
Integration of transcriptomics, proteomics, and metabolomics data to reveal HER2-associated metabolic heterogeneity in gastric cancer with response to immunotherapy and neoadjuvant chemotherapy.
Yuan Q, Deng D, Pan C, Ren J, Wei T, Wu Z, Zhang B, Li S, Yin P, Shang D
Front Immunol 2022;13:951137. Epub 2022 Aug 4 doi: 10.3389/fimmu.2022.951137. PMID: 35990657Free PMC Article
Advances in the Molecular Taxonomy of Breast Cancer.
Guido LP, Gomez-Fernandez C
Arch Med Res 2020 Nov;51(8):777-783. Epub 2020 Aug 21 doi: 10.1016/j.arcmed.2020.08.001. PMID: 32839004

Clinical prediction guides

Mass Spectrometric Profiling of HLA-B44 Peptidomes Provides Evidence for Tapasin-Mediated Tryptophan Editing.
Kaur A, Surnilla A, Zaitouna AJ, Mumphrey MB, Basrur V, Grigorova I, Cieslik M, Carrington M, Nesvizhskii AI, Raghavan M
J Immunol 2023 Nov 1;211(9):1298-1307. doi: 10.4049/jimmunol.2300232. PMID: 37737643Free PMC Article
Intestinal B cells license metabolic T-cell activation in NASH microbiota/antigen-independently and contribute to fibrosis by IgA-FcR signalling.
Kotsiliti E, Leone V, Schuehle S, Govaere O, Li H, Wolf MJ, Horvatic H, Bierwirth S, Hundertmark J, Inverso D, Zizmare L, Sarusi-Portuguez A, Gupta R, O'Connor T, Giannou AD, Shiri AM, Schlesinger Y, Beccaria MG, Rennert C, Pfister D, Öllinger R, Gadjalova I, Ramadori P, Rahbari M, Rahbari N, Healy ME, Fernández-Vaquero M, Yahoo N, Janzen J, Singh I, Fan C, Liu X, Rau M, Feuchtenberger M, Schwaneck E, Wallace SJ, Cockell S, Wilson-Kanamori J, Ramachandran P, Kho C, Kendall TJ, Leblond AL, Keppler SJ, Bielecki P, Steiger K, Hofmann M, Rippe K, Zitzelsberger H, Weber A, Malek N, Luedde T, Vucur M, Augustin HG, Flavell R, Parnas O, Rad R, Pabst O, Henderson NC, Huber S, Macpherson A, Knolle P, Claassen M, Geier A, Trautwein C, Unger K, Elinav E, Waisman A, Abdullah Z, Haller D, Tacke F, Anstee QM, Heikenwalder M
J Hepatol 2023 Aug;79(2):296-313. Epub 2023 May 22 doi: 10.1016/j.jhep.2023.04.037. PMID: 37224925Free PMC Article
Tumor intrinsic and extrinsic functions of CD73 and the adenosine pathway in lung cancer.
Kowash RR, Akbay EA
Front Immunol 2023;14:1130358. Epub 2023 Mar 24 doi: 10.3389/fimmu.2023.1130358. PMID: 37033953Free PMC Article
Structures of the HER2-HER3-NRG1β complex reveal a dynamic dimer interface.
Diwanji D, Trenker R, Thaker TM, Wang F, Agard DA, Verba KA, Jura N
Nature 2021 Dec;600(7888):339-343. Epub 2021 Nov 10 doi: 10.1038/s41586-021-04084-z. PMID: 34759323Free PMC Article
Molecular pathways: HER3 targeted therapy.
Gala K, Chandarlapaty S
Clin Cancer Res 2014 Mar 15;20(6):1410-6. Epub 2014 Feb 11 doi: 10.1158/1078-0432.CCR-13-1549. PMID: 24520092Free PMC Article

Recent systematic reviews

No prescription? No problem: drivers of non-prescribed sale of antibiotics among community drug retail outlets in low and middle income countries: a systematic review of qualitative studies.
Belachew SA, Hall L, Erku DA, Selvey LA
BMC Public Health 2021 Jun 3;21(1):1056. doi: 10.1186/s12889-021-11163-3. PMID: 34082726Free PMC Article
Impact of BMI on Survival Outcomes of Immunotherapy in Solid Tumors: A Systematic Review.
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Clinical Relevance of Gain- and Loss-of-Function Germline Mutations in STAT1: A Systematic Review.
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