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Hereditary factor XIII deficiency disease

MedGen UID:
4639
Concept ID:
C0015530
Disease or Syndrome
Synonyms: Deficiencies, Factor 13; Deficiencies, Factor Thirteen; Deficiencies, Factor XIII; Deficiency, Factor 13; Deficiency, Factor Thirteen; Deficiency, Factor XIII; Factor 13 Deficiencies; Factor 13 Deficiency; Factor Thirteen Deficiencies; Factor Thirteen Deficiency; Factor XIII Deficiencies; Factor XIII Deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: Hereditary factor XIII deficiency disease (50189006); Laki-Lorand factor deficiency disease (50189006)
 
Orphanet: ORPHA331

Definition

A deficiency of blood coagulation FACTOR XIII or fibrin stabilizing factor (FSF) that prevents blood clot formation and results in a clinical hemorrhagic diathesis. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary factor XIII deficiency disease

Recent clinical studies

Etiology

Sun L, Yan Q, Wang Y, Luo H, Du P, Hassan R, Liu L, Jiang W
Hematology 2018 Sep;23(8):501-509. Epub 2018 Jan 7 doi: 10.1080/10245332.2017.1422315. PMID: 29307277
Naderi M, Haghpanah S, Miri-Aliabad G, Tavosi H, Karimi M
J Thromb Haemost 2017 Dec;15(12):2300-2305. Epub 2017 Nov 1 doi: 10.1111/jth.13872. PMID: 29028293
Arishima H, Neishi H, Kikuta KI, Morita M, Hosono N, Yamauchi T, Souri M, Ichinose A
J Stroke Cerebrovasc Dis 2017 Oct;26(10):e203-e205. Epub 2017 Aug 8 doi: 10.1016/j.jstrokecerebrovasdis.2017.07.009. PMID: 28801214
Maaloul I, Medhaffer M, Louhichi N, Krichen I, Alibi S, Kmiha S, Aloulou H, Fakhfakh F, Elloumi M, Kallel C, Hachicha M
Blood Coagul Fibrinolysis 2017 Sep;28(6):485-489. doi: 10.1097/MBC.0000000000000649. PMID: 28704210
Bedreli S, Sowa JP, Malek S, Blomeyer S, Katsounas A, Gerken G, Saner FH, Canbay A
Liver Int 2017 Apr;37(4):562-568. Epub 2016 Oct 2 doi: 10.1111/liv.13254. PMID: 27634287

Diagnosis

Aydin Ozturk P, Sanri O, Yilmaz A, Arpa A, Ozturk U, Ceviz A
Pediatr Neurosurg 2018;53(6):413-415. Epub 2018 Sep 3 doi: 10.1159/000492334. PMID: 30176663
Karimi M, Peyvandi F, Naderi M, Shapiro A
Int J Lab Hematol 2018 Feb;40(1):3-11. Epub 2017 Oct 13 doi: 10.1111/ijlh.12756. PMID: 29027765
Arishima H, Neishi H, Kikuta KI, Morita M, Hosono N, Yamauchi T, Souri M, Ichinose A
J Stroke Cerebrovasc Dis 2017 Oct;26(10):e203-e205. Epub 2017 Aug 8 doi: 10.1016/j.jstrokecerebrovasdis.2017.07.009. PMID: 28801214
Maaloul I, Medhaffer M, Louhichi N, Krichen I, Alibi S, Kmiha S, Aloulou H, Fakhfakh F, Elloumi M, Kallel C, Hachicha M
Blood Coagul Fibrinolysis 2017 Sep;28(6):485-489. doi: 10.1097/MBC.0000000000000649. PMID: 28704210
Hosseini S, Dorgalaleh A, Bamedi T, Tavakol K, Tabibian S, Naderi M, Alizadeh S, Varmaghani B, Shamsizadeh M, Rahimizadeh A, Ebrahimi S
Blood Coagul Fibrinolysis 2015 Dec;26(8):908-11. doi: 10.1097/MBC.0000000000000358. PMID: 26226252

Therapy

Aydin Ozturk P, Sanri O, Yilmaz A, Arpa A, Ozturk U, Ceviz A
Pediatr Neurosurg 2018;53(6):413-415. Epub 2018 Sep 3 doi: 10.1159/000492334. PMID: 30176663
Naderi M, Haghpanah S, Miri-Aliabad G, Tavosi H, Karimi M
J Thromb Haemost 2017 Dec;15(12):2300-2305. Epub 2017 Nov 1 doi: 10.1111/jth.13872. PMID: 29028293
Arishima H, Neishi H, Kikuta KI, Morita M, Hosono N, Yamauchi T, Souri M, Ichinose A
J Stroke Cerebrovasc Dis 2017 Oct;26(10):e203-e205. Epub 2017 Aug 8 doi: 10.1016/j.jstrokecerebrovasdis.2017.07.009. PMID: 28801214
Pitkänen HH, Jouppila A, Lemponen M, Ilmakunnas M, Ahonen J, Lassila R
Thromb Res 2017 Jan;149:56-61. Epub 2016 Nov 16 doi: 10.1016/j.thromres.2016.11.012. PMID: 27902939
Naderi M, Ahmadinejad M, Hosseini MS, Moradi E, Dorgalaleh A, Shamsizadeh M
Blood Coagul Fibrinolysis 2017 Jun;28(4):276-278. doi: 10.1097/MBC.0000000000000578. PMID: 27306330

Prognosis

Dorgalaleh A, Assadollahi V, Tabibian S, Shamsizadeh M
Clin Appl Thromb Hemost 2018 Mar;24(2):210-216. Epub 2016 Nov 23 doi: 10.1177/1076029616680473. PMID: 27879471
Arishima H, Neishi H, Kikuta KI, Morita M, Hosono N, Yamauchi T, Souri M, Ichinose A
J Stroke Cerebrovasc Dis 2017 Oct;26(10):e203-e205. Epub 2017 Aug 8 doi: 10.1016/j.jstrokecerebrovasdis.2017.07.009. PMID: 28801214
Maaloul I, Medhaffer M, Louhichi N, Krichen I, Alibi S, Kmiha S, Aloulou H, Fakhfakh F, Elloumi M, Kallel C, Hachicha M
Blood Coagul Fibrinolysis 2017 Sep;28(6):485-489. doi: 10.1097/MBC.0000000000000649. PMID: 28704210
Bedreli S, Sowa JP, Malek S, Blomeyer S, Katsounas A, Gerken G, Saner FH, Canbay A
Liver Int 2017 Apr;37(4):562-568. Epub 2016 Oct 2 doi: 10.1111/liv.13254. PMID: 27634287
Hosseini S, Dorgalaleh A, Bamedi T, Tavakol K, Tabibian S, Naderi M, Alizadeh S, Varmaghani B, Shamsizadeh M, Rahimizadeh A, Ebrahimi S
Blood Coagul Fibrinolysis 2015 Dec;26(8):908-11. doi: 10.1097/MBC.0000000000000358. PMID: 26226252

Clinical prediction guides

Dorgalaleh A, Assadollahi V, Tabibian S, Shamsizadeh M
Clin Appl Thromb Hemost 2018 Mar;24(2):210-216. Epub 2016 Nov 23 doi: 10.1177/1076029616680473. PMID: 27879471
Naderi M, Haghpanah S, Miri-Aliabad G, Tavosi H, Karimi M
J Thromb Haemost 2017 Dec;15(12):2300-2305. Epub 2017 Nov 1 doi: 10.1111/jth.13872. PMID: 29028293
Maaloul I, Medhaffer M, Louhichi N, Krichen I, Alibi S, Kmiha S, Aloulou H, Fakhfakh F, Elloumi M, Kallel C, Hachicha M
Blood Coagul Fibrinolysis 2017 Sep;28(6):485-489. doi: 10.1097/MBC.0000000000000649. PMID: 28704210
Bedreli S, Sowa JP, Malek S, Blomeyer S, Katsounas A, Gerken G, Saner FH, Canbay A
Liver Int 2017 Apr;37(4):562-568. Epub 2016 Oct 2 doi: 10.1111/liv.13254. PMID: 27634287
Dorgalaleh A, Rashidpanah J
Blood Rev 2016 Nov;30(6):461-475. Epub 2016 Jun 16 doi: 10.1016/j.blre.2016.06.002. PMID: 27344554

Recent systematic reviews

Tone KJ, James TE, Fergusson DA, Tinmouth A, Tay J, Avey MT, Kilty S, Lalu MM
Transfus Med Rev 2016 Jul;30(3):123-31. Epub 2016 Apr 22 doi: 10.1016/j.tmrv.2016.04.001. PMID: 27167905
Kulkarni BP, Nair SB, Vijapurkar M, Mota L, Shanbhag S, Ali S, Shetty SD, Ghosh K
PLoS One 2014;9(9):e108683. Epub 2014 Oct 2 doi: 10.1371/journal.pone.0108683. PMID: 25275492Free PMC Article
Sharief LA, Kadir RA
Haemophilia 2013 Nov;19(6):e349-57. Epub 2013 Aug 28 doi: 10.1111/hae.12259. PMID: 23992439
Franchini M, Frattini F, Crestani S, Bonfanti C
J Thromb Thrombolysis 2013 Jul;36(1):109-14. doi: 10.1007/s11239-012-0818-3. PMID: 23065324
Burrows RF, Ray JG, Burrows EA
Obstet Gynecol Surv 2000 Feb;55(2):103-8. PMID: 10674253

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