Dysfibrinogenemia malady

NIH Rare Diseases: Dysfibrinogenemia is a rare coagulation disorder caused by a mutation in the gene controlling the production of fibrinogen in the liver. It causes the liver to make an abnormal fibrinogen, one that resists degradation when converted to fibrin. Dysfibrinogenemia may increase a person's risk of venous thrombosis or rarely cause a mild bleeding tendency. PT, PTT, and Thrombin Time tests are used to screen for this condition, which is then confirmed with additional specialized blood tests. Patients with dysfibrinogenemia may experience poor wound healing. Hereditary transmission is autosomal dominant or codominant except in a few cases that appear to be transmitted recessively.³⁰

MalaCards: Dysfibrinogenemia, also known as congenital dysfibrinogenemia, is related to thrombosis and hypofibrinogenemia. An important gene associated with Dysfibrinogenemia is FGA (fibrinogen alpha chain), and among its related pathways are Platelet activation, signaling and aggregation and Common Pathway. The compounds citrate and ascorbic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, and related mouse phenotypes are hematopoietic system and reproductive system.

Wikipedia: The dysfibrinogenemias are a group of autosomal dominant disorders of qualitatively abnormal...⁴⁴ more...

dysfibrinogenemia 7 30 32 43 congenital dysfibrinogenemia 30

dysfibrinogenemia, familial 30

Disease types for dysfibrinogenemia family:

dysfibrinogenemia, beta type

Diseases related to dysfibrinogenemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 280)

id	Related Disease	Score	Top Affiliating Genes
1	thrombosis	30.3	FGB, F5, F2
2	hypofibrinogenemia	25.0	SERPINC1, FGA, FGB, FGG, F2, ALB
3	thromboembolism	23.7	SERPINC1, SERPIND1, FGA, F5, F2, F10
4	thrombophilia	22.3	SERPINC1, SERPIND1, FGA, FGB, FGG, F5
5	afibrinogenemia	13.5	FGA, FGB
6	thrombophilia, dysfibrinogenemic	13.4	FGB, FGG
7	bernard-soulier syndrome	13.2	FGA, F2
8	stroke, ischemic	13.2	F5, F2
9	blood protein disease	13.1	F5, F2
10	genee-wiedemann syndrome	13.1	PLAT, THBD
11	hemoglobin e disease	13.1	F5, F2
12	porencephaly	13.1	F5, F2
13	acute myocarditis	13.1	FGA, PLAT
14	factor v deficiency	13.1	F5, F2
15	carotid intimal medial thickness	13.1	FGB, F5
16	factor viii deficiency	13.1	F5, F2
17	hepatic tuberculosis	13.1	F2, ALB
18	arterial occlusive disease	13.0	PLAT, THBD
19	vericose veins	13.0	F2, ALB
20	warfarin resistance	13.0	F2, ALB
21	esophageal varix	13.0	F2, ALB
22	von willebrand's disease	13.0	F5, F2
23	neonatal stroke	13.0	F5, ALB
24	hypersplenism	13.0	F2, ALB
25	acute liver failure	13.0	F2, ALB
26	hyperprothrombinemia	13.0	SERPINC1, F2
27	hepatorenal syndrome	12.9	F2, ALB
28	peripheral vertigo	12.9	SERPINC1, F2
29	placental abruption	12.9	SERPINC1, F5
30	legg-calve-perthes disease	12.9	SERPINC1, F5
31	postphlebitic syndrome	12.9	SERPINC1, F5
32	placental infarction	12.9	SERPINC1, F5
33	compartment syndrome	12.9	F2, ALB
34	sagittal sinus thrombosis	12.9	SERPINC1, F5
35	acquired angioedema	12.9	SERPINC1, F5
36	hepatic vein thrombosis	12.9	SERPINC1, F5
37	dengue shock syndrome	12.9	PLAT, THBD
38	retinal vascular occlusion	12.9	SERPINC1, F5
39	homocysteine plasma level	12.9	SERPINC1, F5
40	intracranial embolism	12.9	SERPINC1, PLAT
41	gastroschisis	12.9	F5, F2
42	portal hypertension	12.8	F2, ALB
43	endophthalmitis	12.8	F5, PLAT
44	factor xi deficiency	12.8	F5, F2, THBD
45	dysprothrombinemia	12.8	F2, F10
46	priapism	12.8	F5, F13A1
47	bilirubin metabolic disorder	12.8	F2, ALB
48	hepatitis e	12.8	FGB, F2, ALB
49	ischemic optic neuropathy	12.8	F5, F2
50	alcoholic hepatitis	12.7	F2, ALB

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to dysfibrinogenemia:

²²

MGI Mouse Phenotypes related to dysfibrinogenemia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.4	F13A1, FGG, SERPIND1
2	reproductive system phenotype	MP:0005389	9.1	FGA, FGG, F10
3	embryogenesis phenotype	MP:0005380	8.9	SERPINC1, FGG, F2
4	liver/biliary system phenotype	MP:0005370	8.4	SERPINC1, FGA, F5, ALB, THBD
5	cardiovascular system phenotype	MP:0005385	6.2	SERPINC1, THBD, PLAT, F13A1, F10, F2
6	homeostasis/metabolism phenotype	MP:0005376	5.6	THBD, PLAT, F13A1, F10, ALB, F2
7	mortality/aging	MP:0010768	5.6	F10, F13A1, PLAT, THBD, ALB, F2

Articles related to dysfibrinogenemia:

(show all 30)

id	Title	Authors	Year	Affiliating Genes
1	Inherited dysfibrinogenemia caused by Arg16His mutat ion in alpha chain of fibrinogen. (20510102)	Zhao X.J.... Ruan C.G.	2010	FGB, FGA, FGG
2	Inherited dysfibrinogenemia: clinical phenotypes asso ciated with five different fibrinogen structure defects. (19923982)	Miesbach W.... Galanakis D.	2010	FGA, FGG
3	Dysfibrinogenemia in childhood: two cases of congenit al dysfibrinogens. (20829681)	KotlA-n R.... Dyr J.E.	2010	FGA
4	Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution. (19949684)	Park E.... Cha Y.J.	2009	FGG
5	Fibrinogen Krakow: a novel hypo/dysfibrinogenemia mut ation in fibrinogen gamma chain (Asn325Ile) affecting fibrin clot structure and function. (19404553)	Undas A.... Neerman-Arbez M.	2009	FGG
6	Two cases of congenital dysfibrinogenemia associated with thrombosis - Fibrinogen Praha III and Fibrinogen Plzen. (19718467)	KotlA-n R.... Dyr J.E.	2009	FGA
7	A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis. (18832913)	Robert-Ebadi H.... Neerman-Arbez M.	2008	FGG
8	Analysis of hypofibrinogenemias found on routine coagulation screening tests and identification of heterozygous dysfibrinogenemia or fibrinogen deficiency (18154029)	Hirota-Kawadobora M.... Katsuyama T.	2007	ALB
9	Fibrinogen Novy Jicin and Praha II: cases of hereditary Aalpha 16 Arg-->Cys and Aalpha 16 Arg-->His dysfibrinogenemia. (17408725)	Kotlin R.... Dyr J.E.	2007	FGA
10	Inherited dysfibrinogenemia caused by Arg275His in the beta chain of fibrinogen (15793786)	Fang Y.... Wang H.	2005	FGB, FGG
11	Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. (14995986)	Acharya S.S.... DiMichele D.M.	2004	F10
12	Fibrinogen variation: a heterozygote dysfibrinogenemia with Arg-->His substitution in position 16 of the Aalpha chain (12193970)	Seydewitz H.H.... Witt I.	2002	FGA
13	Fibrinogen kaiserslautern III: a new case of congenital dysfibrinogenemia with aalpha 16 arg-->cys substitution. (11408744)	Loreth R.M.... Albert F.W.	2001	F2
14	Coexisting dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). (10870810)	Siebenlist K.R.... Olson J.D.	2000	F5
15	Fibrinogen Ales: a homozygous case of dysfibrinogenemia (gamma-Asp(330)-->Val) characterized by a defective fibrin polymerization site 'a'. (11071644)	Lounes K.C.... Soria J.	2000	FGA
16	Thrombotic dysfibrinogenemia. Fibrinogen 'Caraca s V' relation between very tight fibrin network and defective clot degrada bility. (10946093)	Marchi R.... Soria J.	2000	ALB
17	Dysfibrinogenemia and thrombosis. (10443961)	Mosesson M.W.	1999	F13A1
18	Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. (7740487)	Haverkate F.... Samama M.	1995	PLAT
19	Dysfibrinogenemia: a case with thrombosis (fibrinogen Richfield) and an overview of the clinical and laboratory spectrum. (7485081)	Schorer A.E.... Basara M.L.	1995	FGA
20	Fibrinogen Osaka IV: a congenital dysfibrinogenemia found in a patient originally reported in relation to surgery, now defined to have an A alpha arginine-16 to histidine substitution. (8461606)	Yamazumi K.... Tsujinaka T.	1993	FGA
21	Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain. (8470043)	Rosenberg J.B.... Amrani D.L.	1993	FGG
22	Inherited dysfibrinogenemia: emerging abnormal structure associations with pathologic and nonpathologic dysfunctions. (8140431)	Galanakis D.K.	1993	FGA
23	Fibrinogen Milano IV, another case of congenital dysfibrinogenemia with an abnormal fibrinopeptide A release (A alpha 16 Arg----His). (1521828)	Bogli C.... Furlan M.	1992	FGB, FGA
24	Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA). (1391954)	Koopman J.... Lord S.T.	1992	FGA
25	Fibrinogen Milano. VI: A heterozygous dysfibrinogenemia (A alpha 16 Arg----His) with bleeding tendency. (2379562)	Bogli C.... Zanussi C.	1990	FGB
26	A gamma methionine-310 to threonine substitution and consequent N- glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi. (2496144)	Yamazumi K.... Matsuda M.	1989	FGG
27	Fibrinogen Stony Brook, a heterozygous A alpha 16Arg----Cys dysfibrinogenemia. Evaluation of diminished platelet aggregation support and of enhanced inhibition of fibrin assembly. (2738154)	Galanakis D.K.... Kehl M.	1989	FGA
28	Fibrinogen Birmingham: a heterozygous dysfibrinogenemia (A alpha 16 Arg----His) containing heterodimeric molecules. (3345340)	Siebenlist K.R.... Mosesson M.W.	1988	FGA
29	Fibrinogen giessen I: a congenital homozygously expressed dysfibrinogenemia with A alpha 16 Arg----His substitution. (3618591)	Alving B.M.... Henschen A.H.	1987	FGA
30	Fibrinogen Petoskey, a dysfibrinogenemia characterized by replacement of Arg-A alpha 16 by a histidyl residue. Evidence for thrombin-catalyzed hydrolysis at a histidyl residue. (7298640)	Higgins D.L.... Shafer J.A.	1981	FGA

Genes related to dysfibrinogenemia according to GeneCards:

(show all 12)

id	Symbol	Description	Score	GeneCards Section Context
1	FGA	fibrinogen alpha chain	11.1	Summaries, Publications
2	FGG	fibrinogen gamma chain	11.1	Publications, Summaries
3	FGB	fibrinogen beta chain	11.1	Publications, Summaries
4	SERPIND1	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	11.0
5	THBD	thrombomodulin	11.0
6	F13A1	coagulation factor XIII, A1 polypeptide	11.0	Publications
7	F5	coagulation factor V (proaccelerin, labile factor)	11.0	Publications
8	F2	coagulation factor II (thrombin)	11.0	Publications
9	SERPINC1	serpin peptidase inhibitor, clade C (antithrombin), member 1	11.0
10	PLAT	plasminogen activator, tissue	11.0	Publications
11	F10	coagulation factor X	11.0	Publications
12	ALB	albumin	11.0	Publications

Pathways related to dysfibrinogenemia according to GeneDecks:

(show all 14)

id	Pathway	Score	Top Affiliating Genes
1	Platelet activation, signaling and aggregation38	9.5	FGA, FGB, FGG
2	Common Pathway38	9.4	F13A1, F5, SERPINC1
3	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics34	9.3	F2, FGG, FGB, FGA
4	Metalloproteases in connective tissue degradation10	9.3	FGG, FGB, FGA
5	Cell adhesion Integrin inside-out signaling10	9.2	F2, FGG, FGB, FGA
6	Warfarin Pathway, Pharmacodynamics34	9.2	F2, F10
7	Cell adhesion_Integrin inside-out signaling41	9.2	F2, FGG, FGB, FGA
8	Cell adhesion_Plasmin signaling41	9.2	PLAT, FGG, FGB, FGA
9	Cell adhesion Plasmin signaling10	9.1	PLAT, FGG, FGB, FGA
10	Intrinsic Prothrombin Activation Pathway36	7.0	THBD, F13A1, F10, F2, F5, FGG
11	Extrinsic Prothrombin Activation Pathway36	7.0	F5, FGG, FGB, FGA, SERPINC1, F2
12	Blood Coagulation Cascade36	6.9	THBD, F13A1, F10, F2, F5, FGG
13	Blood Coagulation Signaling Pathways37	6.5	SERPINC1, THBD, PLAT, F13A1, F10, F2
14	Complement and coagulation cascades20	6.0	PLAT, F13A1, F10, F2, F5, FGG

Compounds related to dysfibrinogenemia according to GeneDecks:

(show top 50)    (show all 154)

id	Compound	Score	Top Affiliating Genes
1	citrate32	10.0	F10
2	ascorbic acid32 18	10.9	F10
3	sucralfate32 9 9	11.5	FGG, FGA, FGB, ALB
4	abciximab32 9 9	11.4	F10, F2
5	heparin sodium32	9.3	THBD, PLAT, F2
6	inogatran32	9.3	SERPINC1, F5, F2
7	clopidogrel32 34 9 18 9	13.3	F10, SERPINC1
8	nafamostat mesilate32	9.3	SERPINC1, FGA, F5
9	polyethylene glycol32	9.2	F10, THBD, SERPINC1
10	ximelagatran32 9 9	11.1	F10, SERPINC1, F2
11	desirudin32	9.0	PLAT, F10, FGA
12	dextran 7032	9.0	F2, PLAT, ALB
13	cacl232	9.0	THBD, FGA, F5, F10
14	hirugen32	8.9	SERPINC1, THBD, FGA, F2, F5
15	batroxobin32	8.8	FGB, F5, F2, PLAT, FGA
16	ristocetin32	8.8	PLAT, SERPINC1, F5, F2
17	efegatran32	8.8	PLAT, SERPINC1, F10
18	levonorgestrel32 9 9	10.7	F5, F2, PLAT, SERPINC1
19	gamma-carboxyglutamic acid32	8.7	THBD, F10, F2, F5
20	benzamidine32 9 9	10.7	F10, F5, SERPINC1, THBD
21	pge132	8.7	FGA, F5, F2, PLAT, THBD
22	fibrinopeptide a32	8.7	PLAT, THBD, F2, FGA, SERPINC1
23	ecarin32	8.7	F5, SERPINC1, F2, F10
24	danaparoid32	8.6	SERPINC1, F2, F5, F10
25	desmopressin32 42 9 9	11.5	SERPINC1, F5, THBD, PLAT, F2
26	cardiolipin32 9 9	10.4	THBD, F10, F2, F5
27	tirofiban32 9 9	10.4	PLAT, F10, F2, SERPINC1
28	rivaroxaban32 9 9	10.4	F2, SERPINC1, F10
29	coumarin32 18	9.4	SERPINC1, FGA, F5, F2, F10
30	ppack32	8.2	PLAT, F10, FGA, SERPINC1, F2
31	spectrozyme32	8.1	PLAT, F5, SERPINC1, F2, F10
32	protamine sulfate32	8.0	F10, SERPINC1, F5, F2, PLAT
33	heparinoids32	8.0	SERPINC1, THBD, F5, F2, F10, F13A1
34	homocysteine32 18	9.0	ALB, THBD, SERPINC1, F5, PLAT, F2
35	heparin32 9 18 9	10.8	SERPIND1, F2, F13A1, F10, ALB, FGB
36	protamine32	7.8	FGA, SERPINC1, F5, F2, F10, PLAT
37	fondaparinux32	7.7	SERPINC1, F5, F10, PLAT, THBD, F2
38	simvastatin32 34 42 9 18 9	12.7	THBD, F5, F2, F10, PLAT
39	kininogen32	7.6	PLAT, THBD, F13A1, ALB, F2, F5
40	creatinine32	7.6	PLAT, F5, THBD, ALB, F2, SERPINC1
41	bivalirudin32 9 9	9.5	PLAT, THBD, SERPINC1, FGA, F5, F2
42	argatroban32 9 9	9.5	SERPINC1, F5, F10, PLAT, THBD, FGA
43	ancrod32	7.5	F2, FGA, F5, F10, PLAT, THBD
44	aprotinin32 9 9	9.4	F10, F2, F5, SERPINC1, PLAT, THBD
45	aspirin32 34 18	9.4	FGA, PLAT, F10, F2, F5, THBD
46	dermatan sulfate32	7.4	F5, F10, PLAT, THBD, SERPINC1, F2
47	hirudin32	7.2	THBD, PLAT, F10, F2, F5, FGB
48	warfarin32 34 9 18 9	10.9	FGA, F5, THBD, PLAT, F10, ALB
49	serine32	6.5	F2, F5, SERPINC1, FGB, FGA, F10
50	fibrinogen32	5.7	THBD, PLAT, F13A1, F10, ALB, F2

Cellular components related to dysfibrinogenemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	fibrinogen complex	GO:005577	9.6	FGG, FGB, FGA
2	platelet alpha granule	GO:031091	9.5	FGA, FGB, FGG
3	cell cortex	GO:005938	9.3	FGG, FGB, FGA
4	platelet alpha granule lumen	GO:031093	8.5	FGA, F13A1, ALB, F5, FGG, FGB
5	plasma membrane	GO:005886	7.1	SERPINC1, FGA, FGB, FGG, F5, F2
6	extracellular space	GO:005615	6.8	THBD, PLAT, ALB, F2, F5, FGG
7	extracellular region	GO:005576	5.7	PLAT, F13A1, F10, ALB, F2, F5

Biological processes related to dysfibrinogenemia according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	protein polymerization	GO:051258	9.8	FGG, FGB, FGA
2	negative regulation of platelet activation	GO:010544	9.8	THBD, F2
3	response to calcium ion	GO:051592	9.8	FGA, FGB, FGG
4	negative regulation of fibrinolysis	GO:051918	9.7	F2, THBD
5	negative regulation of proteolysis	GO:045861	9.3	PLAT, F2
6	peptidyl-glutamic acid carboxylation	GO:017187	9.2	F2, F10
7	blood coagulation, intrinsic pathway	GO:007597	9.2	F2, F10
8	fibrinolysis	GO:042730	9.1	F2, PLAT
9	platelet degranulation	GO:002576	8.5	F13A1, ALB, F5, FGG, FGB, FGA
10	platelet activation	GO:030168	8.1	F13A1, ALB, F2, F5, FGG, FGB
11	blood coagulation	GO:007596	5.5	SERPINC1, THBD, PLAT, F13A1, F10, ALB

Molecular functions related to dysfibrinogenemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	eukaryotic cell surface binding	GO:043499	9.6	FGA, FGB, FGG
2	protein binding, bridging	GO:030674	9.5	FGA, FGB, FGG
3	receptor binding	GO:005102	8.9	F2, FGG, FGB, FGA
4	serine-type endopeptidase activity	GO:004252	8.6	F2, F10, PLAT