MCID: PRT012
MIFTS: 40

Prothrombin Deficiency malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Prothrombin Deficiency

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Genetics Home Reference:21 Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Women with prothrombin deficiency can have prolonged and sometimes abnormally heavy menstrual bleeding. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and the condition may only become apparent following surgery or a serious injury.

MalaCards based summary: Prothrombin Deficiency, also known as hypoprothrombinemia, is related to acquired hypoprothrombinemia and hepatitis, and has symptoms including An important gene associated with Prothrombin Deficiency is F2 (coagulation factor II (thrombin)). The drugs vitamin k 3 and vitamin k 1 have been mentioned in the context of this disorder. Affiliated tissues include brain and liver.

Wikipedia:65 Hypoprothrombinemia is a blood disorder in which a deficiency of prothrombin (Factor II) results in... more...

Description from OMIM:46 613679

Aliases & Classifications for Prothrombin Deficiency

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Sources:
8Disease Ontology, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 62UMLS, 46OMIM, 44Novoseek, 57SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet
See all sources

Prothrombin Deficiency, Aliases & Descriptions:

Name: Prothrombin Deficiency 8 20 21 48 62
Hypoprothrombinemia 8 21 46 48
Dysprothrombinemia 21 48 62
Factor Ii Deficiency 21 62
 
Congenital Factor Ii Deficiency 48
Inherited Factor Ii Deficiency 62
Hypoprothrombinemias 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
prothrombin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


External Ids:

Disease Ontology8 DOID:2235
OMIM46 613679
NCIt39 C26799
SNOMED-CT57 191283001, 73975000
MeSH34 D007020
ICD10 via Orphanet26 D68.2

Related Diseases for Prothrombin Deficiency

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Diseases related to Prothrombin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1acquired hypoprothrombinemia10.3
2hepatitis10.2
3systemic lupus erythematosus10.2
4lupus erythematosus10.2
5antiphospholipid syndrome10.0
6follicular lymphoma10.0
7obstructive jaundice10.0
8cerebritis10.0
9arthropathy10.0
10scabies10.0
11inherited hypoprothrombinemia10.0
12thrombasthenia10.0
13arthritis10.0
14thrombocytopenia10.0
15factor xii deficiency10.0
16factor v deficiency10.0
17megaloblastic anemia10.0
18hypervitaminosis a10.0
19transient arthritis10.0
20granulocytopenia10.0

Graphical network of diseases related to Prothrombin Deficiency:



Diseases related to prothrombin deficiency

Symptoms for Prothrombin Deficiency

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Symptoms by clinical synopsis from OMIM:

613679

Clinical features from OMIM:

613679

HPO human phenotypes related to Prothrombin Deficiency:

(show all 13)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 menorrhagia HP:0000132
3 gingival bleeding HP:0000225
4 epistaxis HP:0000421
5 bruising susceptibility HP:0000978
6 gastrointestinal hemorrhage HP:0002239
7 prolonged bleeding time HP:0003010
8 congenital onset HP:0003577
9 prolonged partial thromboplastin time HP:0003645
10 variable expressivity HP:0003828
11 joint hemorrhage HP:0005261
12 prolonged prothrombin time HP:0008151
13 reduced prothrombin activity HP:0012201

Drugs & Therapeutics for Prothrombin Deficiency

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Drug clinical trials:

Search ClinicalTrials for Prothrombin Deficiency

Search NIH Clinical Center for Prothrombin Deficiency

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Prothrombin Deficiency

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Genetic tests related to Prothrombin Deficiency:

id Genetic test Affiliating Genes
1 Prothrombin Deficiency20 F2

Anatomical Context for Prothrombin Deficiency

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MalaCards organs/tissues related to Prothrombin Deficiency:

32
Brain, Liver

Animal Models for Prothrombin Deficiency or affiliated genes

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Publications for Prothrombin Deficiency

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Articles related to Prothrombin Deficiency:

(show all 48)
idTitleAuthorsYear
1
Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama. (23152198)
2013
2
Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency. (23711336)
2013
3
Congenital prothrombin deficiency: an update. (23852823)
2013
4
Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. (22392504)
2012
5
Prophylaxis in severe prothrombin deficiency. (20950404)
2011
6
Hereditary prothrombin deficiency. (19750864)
2009
7
Congenital prothrombin deficiency. (19598065)
2009
8
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). (18852482)
2008
9
Acquired prothrombin deficiency in a patient with follicular lymphoma. (18355267)
2008
10
Mutations are no substitutes for clotting, chromogenic and immunological assays in patients with congenital prothrombin deficiency. (18306360)
2008
11
Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. (17002658)
2006
12
Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency. (16543981)
2006
13
The feasibility of total ankle prosthesis for severe arthropathy in haemophilia and prothrombin deficiency. (17083522)
2006
14
Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --&gt; Thr (Prothrombin Vellore 1) mutation. (15892853)
2005
15
Combined deficiency of protease-activated receptor-4 and fibrinogen recapitulates the hemostatic defect but not the embryonic lethality of prothrombin deficiency. (14504091)
2004
16
Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). (15284583)
2004
17
A common mutation, Arg457--&gt;Gln, links prothrombin deficiencies in the Puerto Rican population. (14629473)
2003
18
Prothrombin deficiency resulted from a homozygous Glu29 to Gly mutation in the prothrombin gene]. (14575584)
2003
19
Rescue of prothrombin-deficiency by transgene expression in mice. (12529749)
2002
20
Bullous hematoma of the palm: an unusual complication of scabies in a child with congenital prothrombin deficiency. (12437569)
2002
21
Acquired bleeding disorder in a patient with malignant lymphoma: antibody-mediated prothrombin deficiency. (11241228)
2001
22
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. (11154146)
2000
23
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. (10706027)
1999
24
Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. (9636196)
1998
25
Prothrombin deficiency results in embryonic and neonatal lethality in mice. (9636195)
1998
26
Prothrombin deficiency and hemorrhage associated with a lupus anticoagulant. (8980268)
1997
27
Transient lupus anticoagulant associated with prothrombin deficiency: unusual cause of bleeding in a 5-year-old girl. (7978060)
1994
28
Detection of the carrier state in congenital &quot;true&quot; prothrombin deficiency. (3354565)
1988
29
Concurrent lupus anticoagulants and prothrombin deficiency due to phenytoin use. (3115223)
1987
30
Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency. (6409139)
1983
31
Prothrombin deficiency in a cocker spaniel. (6980872)
1982
32
Prothrombin Molise: a &quot;new&quot; congenital dysprothrombinemia, double heterozygosis with an abnormal prothrombin and &quot;true&quot; prothrombin deficiency. (418829)
1978
33
Bleeding disorder in an infant associated with anicteric hepatitis. Acquired prothrombin deficiency. (4434662)
1974
34
Hereditary prothrombin deficiency. (4982446)
1970
35
Christmas disease associated with prothrombin deficiency and thrombasthenia. (5350280)
1969
36
Severe isolated prothrombin deficiency: an acquired state with complete recovery. (13962584)
1962
37
The measurement of prothrombin in plasma; a case of prothrombin deficiency. (13034913)
1953
38
CLINICO-pathological conference; diffuse nodular cirrhosis and subacute hepatitis; icterus; cerebral edema and probable prothrombin deficiency. (15434966)
1950
39
Prothrombin deficiency of the newborn. (18129082)
1949
40
The nature of the prothrombin deficiency in dicoumarin plasma. (18130447)
1949
41
The Use of Synthetic Vitamin K Substitutes in the Treatment of Prothrombin Deficiency. (20322499)
1942
42
CLINICAL SIGNIFICANCE OF PROTHROMBIN DEFICIENCY AND ITS TREATMENT. (17857921)
1941
43
Prothrombin Deficiency in Disease of the Liver and Bile Passages, and its Treatment with Synthetic Vitamin K. (20783619)
1941
44
HAEMORRHAGIC TENDENCY ASSOCIATED WITH PROTHROMBIN DEFICIENCY AND ITS TREATMENT WITH VITAMIN K AND BILE. (20321723)
1940
45
PROTHROMBIN DEFICIENCY AND THE EFFECTS OF VITAMIN K IN OBSTRUCTIVE JAUNDICE AND BILIARY FISTULA. (17857347)
1939
46
BLEEDING TENDENCY AND PROTHROMBIN DEFICIENCY IN BILIARY FISTULA DOGS: EFFECT OF FEEDING BILE AND VITAMIN K. (19870764)
1938
47
PROTHROMBIN DEFICIENCY AND THE BLEEDING TENDENCY IN LIVER INJURY (CHLOROFORM INTOXICATION). (19870699)
1937
48
PROTHROMBIN DEFICIENCY THE CAUSE OF BLEEDING IN BILE FISTULA DOGS. (19870504)
1936

Variations for Prothrombin Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Prothrombin Deficiency:

64
id Symbol AA change Variation ID SNP ID
1F2p.Glu200LysVAR_006711rs62623459
2F2p.Arg314CysVAR_006712
3F2p.Arg314HisVAR_006713
4F2p.Met380ThrVAR_006714
5F2p.Arg425CysVAR_006715
6F2p.Arg431HisVAR_006716
7F2p.Arg461TrpVAR_006717
8F2p.Glu509AlaVAR_006718
9F2p.Gly601ValVAR_006719
10F2p.Glu72GlyVAR_055232

Clinvar genetic disease variations for Prothrombin Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1F2NM_000506.3(F2): c.462_463insT (p.Asn155Terfs)insertionPathogenicrs387906522GRCh37Chr 11, 46744971: 46744972
2F2F2, TYR44CYSsingle nucleotide variantPathogenic

Expression for genes affiliated with Prothrombin Deficiency

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Expression patterns in normal tissues for genes affiliated with Prothrombin Deficiency

Search GEO for disease gene expression data for Prothrombin Deficiency.

Pathways for genes affiliated with Prothrombin Deficiency

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Compounds for genes affiliated with Prothrombin Deficiency

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GO Terms for genes affiliated with Prothrombin Deficiency

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Products for genes affiliated with Prothrombin Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Prothrombin Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet