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Tatsumi factor deficiency

MedGen UID:
336460
•Concept ID:
C1848931
•
Disease or Syndrome
Synonym: Tatsumi Factor Deficiency
 
Monarch Initiative: MONDO:0010097
OMIM®: 272650

Clinical features

From HPO
Prolonged bleeding time
MedGen UID:
56231
•Concept ID:
C0151529
•
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
See: Feature record | Search on this feature
Abnormal bleeding
MedGen UID:
264316
•Concept ID:
C1458140
•
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
See: Feature record | Search on this feature
Reduced prothrombin consumption
MedGen UID:
867367
•Concept ID:
C4021732
•
Finding
The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genetically modified adipose tissue-derived stem/stromal cells, using simian immunodeficiency virus-based lentiviral vectors, in the treatment of hemophilia B.
Watanabe N, Ohashi K, Tatsumi K, Utoh R, Shim IK, Kanegae K, Kashiwakura Y, Ohmori T, Sakata Y, Inoue M, Hasegawa M, Okano T
Hum Gene Ther 2013 Mar;24(3):283-94. doi: 10.1089/hum.2012.162. PMID: 23360488Free PMC Article

Recent clinical studies

Etiology

Regnase-1 downregulation promotes pancreatic cancer through myeloid-derived suppressor cell-mediated evasion of anticancer immunity.
Okabe J, Kodama T, Sato Y, Shigeno S, Matsumae T, Daiku K, Sato K, Yoshioka T, Shigekawa M, Higashiguchi M, Kobayashi S, Hikita H, Tatsumi T, Okamoto T, Satoh T, Eguchi H, Akira S, Takehara T
J Exp Clin Cancer Res 2023 Oct 9;42(1):262. doi: 10.1186/s13046-023-02831-w. PMID: 37814340Free PMC Article
Small Intestinal Lesions in Patients with Anemia on Hemodialysis: A Two-Center, Cross-Sectional Study.
Ozaki H, Ota K, Kojima Y, Harada S, Takeuchi T, Tanaka M, Hayashi K, Higuchi K
Digestion 2020;101(6):730-736. Epub 2019 Aug 16 doi: 10.1159/000502228. PMID: 31422406
Hypoxia and reoxygenation augment bone-resorbing factor production from human periodontal ligament cells.
Motohira H, Hayashi J, Tatsumi J, Tajima M, Sakagami H, Shin K
J Periodontol 2007 Sep;78(9):1803-9. doi: 10.1902/jop.2007.060519. PMID: 17760552
Detection of autoantibodies against the pituitary-specific proteins in patients with lymphocytic hypophysitis.
Tanaka S, Tatsumi KI, Kimura M, Takano T, Murakami Y, Takao T, Hashimoto K, Kato Y, Amino N
Eur J Endocrinol 2002 Dec;147(6):767-75. doi: 10.1530/eje.0.1470767. PMID: 12457452
C677T polymorphism in methylenetetrahydrofolate reductase gene and psychoses.
Kunugi H, Fukuda R, Hattori M, Kato T, Tatsumi M, Sakai T, Hirose T, Nanko S
Mol Psychiatry 1998 Sep;3(5):435-7. doi: 10.1038/sj.mp.4000390. PMID: 9774778

Diagnosis

Vitamin D deficiency osteomalacia triggered by long-term social withdrawal and unbalanced diet in a Japanese middle-aged subject: A case report.
Iwamoto Y, Tatsumi F, Dan K, Katakura Y, Shimoda M, Kimura T, Nakanishi S, Mune T, Kaku K, Kaneto H
Medicine (Baltimore) 2022 Jan 14;101(2):e28589. doi: 10.1097/MD.0000000000028589. PMID: 35029240Free PMC Article
RUNX3 levels in human hematopoietic progenitors are regulated by aging and dictate erythroid-myeloid balance.
Balogh P, Adelman ER, Pluvinage JV, Capaldo BJ, Freeman KC, Singh S, Elagib KE, Nakamura Y, Kurita R, Sashida G, Zunder ER, Li H, Gru AA, Price EA, Schrier SL, Weissman IL, Figueroa ME, Pang WW, Goldfarb AN
Haematologica 2020 Apr;105(4):905-913. Epub 2019 Jun 6 doi: 10.3324/haematol.2018.208918. PMID: 31171641Free PMC Article
Continuing efforts to standardize measured serum growth hormone values in Japan.
Katsumata N, Shimatsu A, Tachibana K, Hizuka N, Horikawa R, Yokoya S, Tatsumi KI, Mochizuki T, Anzo M, Tanaka T
Endocr J 2016 Oct 29;63(10):933-936. Epub 2016 Jul 22 doi: 10.1507/endocrj.EJ16-0198. PMID: 27452373
Association of functional polymorphisms related to the transcriptional level of FOXP3 with prognosis of autoimmune thyroid diseases.
Inoue N, Watanabe M, Morita M, Tomizawa R, Akamizu T, Tatsumi K, Hidaka Y, Iwatani Y
Clin Exp Immunol 2010 Dec;162(3):402-6. Epub 2010 Oct 5 doi: 10.1111/j.1365-2249.2010.04229.x. PMID: 20942809Free PMC Article
Detection of autoantibodies against the pituitary-specific proteins in patients with lymphocytic hypophysitis.
Tanaka S, Tatsumi KI, Kimura M, Takano T, Murakami Y, Takao T, Hashimoto K, Kato Y, Amino N
Eur J Endocrinol 2002 Dec;147(6):767-75. doi: 10.1530/eje.0.1470767. PMID: 12457452

Therapy

p53 functional deficiency in human colon cancer cells promotes fibroblast-mediated angiogenesis and tumor growth.
Hayashi Y, Tsujii M, Kodama T, Akasaka T, Kondo J, Hikita H, Inoue T, Tsujii Y, Maekawa A, Yoshii S, Shinzaki S, Watabe K, Tomita Y, Inoue M, Tatsumi T, Iijima H, Takehara T
Carcinogenesis 2016 Oct;37(10):972-984. Epub 2016 Aug 12 doi: 10.1093/carcin/bgw085. PMID: 27520561
Vitamin D and type II sodium-dependent phosphate cotransporters.
Kido S, Kaneko I, Tatsumi S, Segawa H, Miyamoto K
Contrib Nephrol 2013;180:86-97. Epub 2013 May 6 doi: 10.1159/000346786. PMID: 23652552
Tissue factor triggers procoagulation in transplanted mesenchymal stem cells leading to thromboembolism.
Tatsumi K, Ohashi K, Matsubara Y, Kohori A, Ohno T, Kakidachi H, Horii A, Kanegae K, Utoh R, Iwata T, Okano T
Biochem Biophys Res Commun 2013 Feb 8;431(2):203-9. Epub 2013 Jan 9 doi: 10.1016/j.bbrc.2012.12.134. PMID: 23313481
Screening for PIT1 abnormality by PCR direct sequencing method.
Irie Y, Tatsumi K, Kusuda S, Kawawaki H, Boyages SC, Nose O, Ichiba Y, Katsumata N, Amino N
Thyroid 1995 Jun;5(3):207-11. doi: 10.1089/thy.1995.5.207. PMID: 7580269
Role of Epstein-Barr virus in the etiology of Burkitt's lymphoma.
Purtilo DT, Manolov G, Manolova Y, Harada S, Lipscomb H, Tatsumi E
IARC Sci Publ 1985;(60):231-47. PMID: 2998991

Prognosis

Regnase-1 downregulation promotes pancreatic cancer through myeloid-derived suppressor cell-mediated evasion of anticancer immunity.
Okabe J, Kodama T, Sato Y, Shigeno S, Matsumae T, Daiku K, Sato K, Yoshioka T, Shigekawa M, Higashiguchi M, Kobayashi S, Hikita H, Tatsumi T, Okamoto T, Satoh T, Eguchi H, Akira S, Takehara T
J Exp Clin Cancer Res 2023 Oct 9;42(1):262. doi: 10.1186/s13046-023-02831-w. PMID: 37814340Free PMC Article
TNF receptor-related factor 3 inactivation promotes the development of intrahepatic cholangiocarcinoma through NF-κB-inducing kinase-mediated hepatocyte transdifferentiation.
Shiode Y, Kodama T, Shigeno S, Murai K, Tanaka S, Newberg JY, Kondo J, Kobayashi S, Yamada R, Hikita H, Sakamori R, Suemizu H, Tatsumi T, Eguchi H, Jenkins NA, Copeland NG, Takehara T
Hepatology 2023 Feb 1;77(2):395-410. Epub 2022 Feb 1 doi: 10.1002/hep.32317. PMID: 34995376Free PMC Article
Small Intestinal Lesions in Patients with Anemia on Hemodialysis: A Two-Center, Cross-Sectional Study.
Ozaki H, Ota K, Kojima Y, Harada S, Takeuchi T, Tanaka M, Hayashi K, Higuchi K
Digestion 2020;101(6):730-736. Epub 2019 Aug 16 doi: 10.1159/000502228. PMID: 31422406
Association of functional polymorphisms related to the transcriptional level of FOXP3 with prognosis of autoimmune thyroid diseases.
Inoue N, Watanabe M, Morita M, Tomizawa R, Akamizu T, Tatsumi K, Hidaka Y, Iwatani Y
Clin Exp Immunol 2010 Dec;162(3):402-6. Epub 2010 Oct 5 doi: 10.1111/j.1365-2249.2010.04229.x. PMID: 20942809Free PMC Article

Clinical prediction guides

Regnase-1 downregulation promotes pancreatic cancer through myeloid-derived suppressor cell-mediated evasion of anticancer immunity.
Okabe J, Kodama T, Sato Y, Shigeno S, Matsumae T, Daiku K, Sato K, Yoshioka T, Shigekawa M, Higashiguchi M, Kobayashi S, Hikita H, Tatsumi T, Okamoto T, Satoh T, Eguchi H, Akira S, Takehara T
J Exp Clin Cancer Res 2023 Oct 9;42(1):262. doi: 10.1186/s13046-023-02831-w. PMID: 37814340Free PMC Article
Dysregulation of PI3K and Hippo signaling pathways synergistically induces chronic pancreatitis via CTGF upregulation.
Tamura T, Kodama T, Sato K, Murai K, Yoshioka T, Shigekawa M, Yamada R, Hikita H, Sakamori R, Akita H, Eguchi H, Johnson RL, Yokoi H, Mukoyama M, Tatsumi T, Takehara T
J Clin Invest 2021 Jul 1;131(13) doi: 10.1172/JCI143414. PMID: 34032634Free PMC Article
Vitamin D and type II sodium-dependent phosphate cotransporters.
Kido S, Kaneko I, Tatsumi S, Segawa H, Miyamoto K
Contrib Nephrol 2013;180:86-97. Epub 2013 May 6 doi: 10.1159/000346786. PMID: 23652552
Tissue factor triggers procoagulation in transplanted mesenchymal stem cells leading to thromboembolism.
Tatsumi K, Ohashi K, Matsubara Y, Kohori A, Ohno T, Kakidachi H, Horii A, Kanegae K, Utoh R, Iwata T, Okano T
Biochem Biophys Res Commun 2013 Feb 8;431(2):203-9. Epub 2013 Jan 9 doi: 10.1016/j.bbrc.2012.12.134. PMID: 23313481
PIT1 abnormality.
Tatsumi K, Amino N
Growth Horm IGF Res 1999 Jun;9 Suppl B:18-22; discussion 23. doi: 10.1016/s1096-6374(99)80076-8. PMID: 10549301

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