MCID: PRT014
MIFTS: 67

Protein S Deficiency malady

Blood category

Summaries for Protein S Deficiency

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 Protein s deficiency is a disorder that causes abnormal blood clotting. when someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding.  other proteins in the blood, such as protein s, usually regulate these chemical reactions to prevent excessive clotting. when protein s is missing (deficient), clotting may not be regulated normally and affected individuals have an increased risk of forming a blood clot called a thrombosis.  people at risk to have protein s deficiency are those with an individual or family history of multiple blood clots in the veins.  treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. last updated: 3/4/2013

MalaCards: Protein S Deficiency, also known as protein s deficiency disease, is related to protein c deficiency and venous thrombosis. An important gene associated with Protein S Deficiency is PROS1 (protein S (alpha)), and among its related pathways are Metabolism and fatty acid activation. The drugs amino acids and amino acids, essential and the compounds cholesterol and lipid have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

Genetics Home Reference:21 Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.

Wikipedia:64 Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a... more...

Aliases & Classifications for Protein S Deficiency

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

protein s deficiency 8 64 43 21 10 45 61
protein s deficiency disease 8 20 22
protein deficiency 45 61
hereditary thrombophilia due to protein s deficiency 21


External Ids:

Disease Ontology8 DOID:2451
SNOMED-CT57 1563006
MeSH35 D018455

Related Diseases for Protein S Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 221)
idRelated DiseaseScoreTop Affiliating Genes
1protein c deficiency31.7APOH, F5, PROS1, SERPINC1
2venous thrombosis31.2APOH, F5, PROS1, SERPINC1, CETP
3trifunctional protein deficiency30.9HADHA, HADHB
4d-bifunctional protein deficiency30.9HSD17B4, HADHB, SCP2, EHHADH, ACOX1
5purpura fulminans30.8F5, SERPINC1
6sagittal sinus thrombosis30.6F5, PROS1, SERPINC1
7thrombophilia30.5APOH, F5, PROS1, SERPINC1
8antiphospholipid syndrome30.5APOH, F5, PROS1, SERPINC1
9prothrombin deficiency30.5SERPINC1, F5, APOH
10thromboembolism30.5SERPINC1, F5, APOH
11portal vein thrombosis30.5F5, PROS1, SERPINC1
12vasculitis30.4PROS1, APOH, MBL2
13central retinal vein occlusion30.4APOH, F5
14stroke, ischemic30.4F5, PROS1
15coronary thrombosis30.4SERPINC1
16hyperhomocysteinemia30.3APOH, F5, PROS1, SERPINC1
17adrenoleukodystrophy30.3HSD17B4, HADHB, SCP2, EHHADH, ACOX1
18thrombocytopenia29.9APOH, PIGA, F5, SERPINC1
19acute myocardial infarction29.9HADHA, SERPINC1
20sneddon syndrome29.9APOH, SERPINC1
21thrombophlebitis29.9APOH
22mondor disease29.9F5, APOH
23tuberculosis29.9MBL2
24septic shock29.9MBL2, F5, SERPINC1
25branch retinal artery occlusion29.9F5
26abetalipoproteinemia29.9HADHB, HADHA, TTPA, CETP
27zellweger syndrome29.7HSD17B4, HADHB, SCP2, EHHADH, ACOX1
28vascular disease29.7CETP, SERPINC1, F5, APOH
29protein r deficiency11.1
30mitochondrial trifunctional protein deficiency10.6
31factor v deficiency10.5
32thrombophilia due to protein s deficiency, autosomal dominant10.5
33n syndrome10.4
34wiskott-aldrich syndrome10.4
35systemic lupus erythematosus10.4
36calciphylaxis10.3
37mannose-binding lectin protein deficiency10.3
38thrombophilia due to protein s deficiency, autosomal recessive10.3
39arthritis10.2
40t cell deficiency10.2
41venous thromboembolism10.2
42kwashiorkor10.2
43lchad deficiency10.2
44central retinal artery occlusion10.1
45osteonecrosis10.1
46testicular infarct10.1
47priapism10.1
48ulcerative colitis10.1
49chickenpox10.1
50young syndrome10.1

Graphical network of the top 20 diseases related to Protein S Deficiency:



Diseases related to protein s deficiency

Clinical Features for Protein S Deficiency

Drugs & Therapeutics for Protein S Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Protein S Deficiency

Drug clinical trials:

Search ClinicalTrials for Protein S Deficiency

Search NIH Clinical Center for Protein S Deficiency

Search CenterWatch for Protein S Deficiency

Inferred drug relations via UMLS61/NDF-RT41:

Show with subtypes

Genetic Tests for Protein S Deficiency

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Protein S Deficiency:

id Genetic test Affiliating Genes
1 Protein S Deficiency20 22 PROS1

Anatomical Context for Protein S Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Protein S Deficiency:

33
Skin, Liver, Brain, Kidney, Lung, Uterus, Bone marrow, Whole blood, Heart, Skeletal muscle, Small intestine, Adipocyte, Thyroid, Adrenal gland, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid, Pituitary

Animal Models for Protein S Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Protein S Deficiency

Sources:
51PubMed
See all sources

Articles related to Protein S Deficiency:

(show top 50)    (show all 849)
idTitleAuthorsYear
1
Right Atrial Thrombosis associated with Sagittal Sinus Thrombosis caused by Protein C-S Deficiency. (24362664)
2013
2
Surfactant protein B deficiency and gene mutations for neonatal respiratory distress syndrome in China Han ethnic population. (23330012)
2013
3
Successful pregnancy outcome in a case of protein s deficiency. (24293862)
2012
4
Early recanalisation of cerebral venous sinus thrombosis in an unusual case associated with severe protein S deficiency. (22847569)
2012
5
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. (21703590)
2011
6
Spontaneous Carotid Cavernous Fistula in a Case with Protein S Deficiency that Newly Developed Ophthalmoplegia after Embolization. (22087212)
2011
7
Long-term subcutaneous protein C replacement in neonatal severe protein C deficiency. (21482600)
2011
8
Severe arterial thrombosis in a family with type III protein S deficiency caused by a frameshift mutation in the PROS1 gene. (20398916)
2010
9
Persistent Fetal Vasculature and Severe Protein C Deficiency. (21045961)
2010
10
The role of insulin like growth factor (IGF)-1 and IGF-binding protein-3 in diagnosis of Growth Hormone Deficiency in short stature children. (19381505)
2009
11
Stuttering priapism complicating warfarin therapy in a patient with protein C deficiency. (18665833)
2008
12
Protein S deficiency, epileptic seizures, sagittal sinus thrombosis and hemorrhagic infarction after ingestion of dimenhydrinate. (18382986)
2008
13
Recurrent vasculopathic skin lesions associated with homozygous protein C deficiency. (17300652)
2007
14
Swim training improves leptin receptor deficiency-induced obesity and lipid disorder by activating uncoupling proteins. (17603293)
2007
15
An Sp1 binding site mutation of the PROS1 promoter in a patient with protein S deficiency. (17596203)
2007
16
Sulfated polymannuroguluronate, a novel anti-acquired immune deficiency syndrome drug candidate, blocks neuroinflammatory signalling by targeting the transactivator of transcription (Tat) protein. (16539678)
2006
17
Effort angina in a middle-aged woman with abnormally high levels of serum high-density lipoprotein cholesterol: a case of cholesteryl-ester transfer protein deficiency. (15849450)
2005
18
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs. (15108292)
2004
19
Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency. (15238143)
2004
20
Heparin-induced thrombocytopenia and warfarin-induced skin necrosis in a child with severe protein C deficiency: successful treatment with dermatan sulfate and protein C concentrate. (12871519)
2003
21
Abnormal trafficking of sarcolemmal proteins in alpha-glucosidase deficiency. (12624791)
2003
22
Sensitivity of functional protein S assays to protein S deficiency: a comparative study of three commercial kits. (12871384)
2003
23
Frequency of protein Z deficiency in patients with ischaemic stroke. (11289354)
2001
24
Activated protein C resistance and false type 2 protein C deficiency detected after multiple shunt failures in a patient with hydrocephalus. (11732775)
2001
25
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. (10712202)
2000
26
Studies on congenital protein C deficiency in Japanese: prevalence, genetic analysis, and relevance to the onset of arterial occlusive diseases. (10805275)
2000
27
Particle size analysis of high density lipoproteins in patients with genetic cholesteryl ester transfer protein deficiency. (11020466)
2000
28
The prevalence and clinical significance of alpha 1-antitrypsin deficiency (PiZ) and ANCA specificities (proteinase 3, BPI) in patients with ulcerative colitis. (10579117)
1999
29
Defective signal transduction through the thromboxane A2 receptor in a patient with a mild bleeding disorder: deficiency of the inositol 1,4,5-triphosphate formation despite normal G-protein activation. (9184416)
1997
30
Serum Insulin-like growth factor-II (IGF-II) levels in patients with acromegaly and growth hormone deficiency: correlation with IGF-I and IGF binding protein-3. (9076345)
1996
31
Acquired protein S deficiency with primary antiphospholipid syndrome and recurrent thrombotic events: report of a case. (8869229)
1995
32
Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene. (8607097)
1995
33
Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. (7727776)
1995
34
Six different point mutations in seven Danish families with symptomatic protein C deficiency. (7792728)
1995
35
Acquired free protein S deficiency is associated with antiphospholipid antibodies and increased thrombin generation in patients with systemic lupus erythematosus. (7709951)
1995
36
Detection of protein C or protein S deficiency in patients on warfarin therapy--a study of nine patients. (7847765)
1994
37
Thrombotic risk of women with hereditary antithrombin III-, protein C- and protein S-deficiency taking oral contraceptive medication. The GTH Study Group on Natural Inhibitors. (8091378)
1994
38
Mutations in the PIG-A gene causing partial deficiency of GPI-linked surface proteins (PNH II) in patients with paroxysmal nocturnal haemoglobinuria. (7986731)
1994
39
Successful treatment of deep vein thrombosis in homozygous protein C deficiency with activated protein C. (8213784)
1993
40
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. (1371116)
1992
41
Hereditary protein S deficiency presenting with cerebral sinus thrombosis in an adolescent girl. (1532418)
1992
42
Protein S deficiency in middle-aged women with stroke. (1533705)
1992
43
Type I protein S deficiency and skin necrosis. (2371192)
1990
44
Idiopathic portal hypertension (noncirrhotic portal fibrosis), thrombosis in portal venous system and protein C deficiency. (2807175)
1989
45
Association of congenital protein C deficiency and latent myeloproliferative disease as cause of splanchnic venous thrombosis in a 34-year-old woman. (2611143)
1989
46
Thrombosis of the superior mesenteric vein in a patient with recurrent spontaneous venous thrombosis caused by familial protein S deficiency. (2966988)
1988
47
Unexplained thromboembolism. When to suspect antithrombin III, protein C, or protein S deficiency. (2964003)
1988
48
Severe deep vein thrombosis in a 2-year-old child with protein S deficiency. (2965427)
1987
49
Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). (3474620)
1987
50
Atypical cobalamin deficiency. Subtle biochemical evidence of deficiency is commonly demonstrable in patients without megaloblastic anemia and is often associated with protein-bound cobalamin malabsorption. (3819580)
1987

Genetic Variations for Protein S Deficiency

Expression for genes affiliated with Protein S Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Protein S Deficiency

Search GEO for disease gene expression data for Protein S Deficiency.

Pathways for genes affiliated with Protein S Deficiency

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN, 53R&D Systems
See all sources

Pathways related to Protein S Deficiency according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.8HSD17B4, PDHA1, HADHB, HADHA, SCP2, PIGA
2
Hide members
10.7ACOX1, EHHADH, SCP2, HADHA, HADHB, HSD17B4
3
Hide members
10.7HADHB, HADHA, SCP2, EHHADH, ACOX1
4
Hide members
10.6MBL2, F5, PROS1, SERPINC1
5
Hide members
10.6PDHA1, HADHB, HADHA, EHHADH
610.6HSD17B4, SCP2, EHHADH, ACOX1
7
Hide members
10.6HADHB, HADHA, ACOX1
8
Hide members
10.6SERPINC1, PROS1, F5
9
Hide members
10.6SERPINC1, PROS1, F5
10
Hide members
10.6EHHADH, HADHA, HADHB
11
Hide members
10.6ACOX1, SCP2, HSD17B4
12
Hide members
10.6ACOX1, SCP2, HSD17B4
1310.6ACOX1, EHHADH, SCP2
1410.6HADHB, HADHA
15
Hide members
10.6HADHA, HADHB

Compounds for genes affiliated with Protein S Deficiency

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Protein S Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 98)
idCompoundScoreTop Affiliating Genes
1cholesterol45 29 11 2414.3MBL2, APOH, SCP2, SCARB2, F5, PROS1
2lipid4511.2MBL2, APOH, HADHB, HADHA, SCP2, SCARB2
3fatty acid4511.2HSD17B4, APOH, HADHB, HADHA, SCP2, EHHADH
4creatinine4511.2MBL2, APOH, HADHB, HADHA, F5, PROS1
5acyl-coa4511.2HSD17B4, HADHB, HADHA, SCP2, EHHADH, ACOX1
6prostacyclin4511.2APOH, HADHB, HADHA, F5, PROS1, SERPINC1
7sterol4511.2HSD17B4, HADHB, SCP2, EHHADH, ACOX1, CETP
8lactate4511.1PDHA1, APOH, HADHB, HADHA, F5, ACOX1
9(3S)-3-Hydroxyadipyl-CoA2411.1EHHADH, HADHA, HADHB, HSD17B4
10citrate4511.1PDHA1, HADHB, HADHA, F5, SERPINC1
11acetyl-coa45 2412.1PDHA1, HADHB, HADHA, SCP2, ACOX1
12phosphatidylserine45 29 1113.1MBL2, APOH, SCP2, F5, CETP
13aspirin45 50 29 2414.1APOH, HADHA, F5, SERPINC1, CETP
14phosphatidylcholine4511.1CETP, F5, SCP2, APOH, MBL2
15dextran sulfate4511.0APOH, F5, SERPINC1, CETP
16(S)-Hydroxydecanoyl-CoA2411.0HADHA, HSD17B4, EHHADH
17(S)-Hydroxyhexanoyl-CoA2411.0EHHADH, HADHA, HSD17B4
18(S)-Hydroxyoctanoyl-CoA2411.0EHHADH, HADHA, HSD17B4
19(S)-3-Hydroxytetradecanoyl-CoA2411.0HSD17B4, EHHADH, HADHA
20(S)-3-Hydroxydodecanoyl-CoA2411.0EHHADH, HADHA, HSD17B4
213-oxoacyl-coa4511.0EHHADH, SCP2, HADHA
222-methyl-3-hydroxybutyryl-coa45 2412.0HSD17B4, HADHA, EHHADH
23carnitine4511.0PDHA1, HADHB, HADHA, ACOX1
24(S)-3-Hydroxyhexadecanoyl-CoA2411.0EHHADH, HADHA, HSD17B4
25(2E)-Octenoyl-CoA2411.0EHHADH, HADHA, HADHB, ACOX1
26(2E)-Tetradecenoyl-CoA2411.0ACOX1, EHHADH, HADHA, HADHB
273-methylcrotonyl-coa45 2412.0EHHADH, HADHA, HADHB
28(2E)-Dodecenoyl-CoA2411.0HADHB, ACOX1, EHHADH, HADHA
29(2E)-Decenoyl-CoA2411.0ACOX1, EHHADH, HADHA, HADHB
30phospholipid4511.0APOH, SCP2, F5, PROS1, CETP
31(2E)-Hexadecenoyl-CoA2411.0HADHB, HADHA, EHHADH, ACOX1
32palmitate4511.0HADHB, HADHA, SCP2, CETP
33cysteine4511.0PDHA1, MBL2, HADHB, CTSZ, F5, MPST
34homocysteine45 2412.0APOH, F5, SERPINC1, CETP
353-ketopalmitoyl-coa4510.9HADHA, HADHB
36(3S)-3-Hydroxylinoleoyl-CoA2410.9EHHADH, HADHA
37(3S)-Hydroxy-tetracosa-6,9,12,15,18,21-all-cis-hexaenoyl-CoA2410.8EHHADH, HADHA
38(4R,8R,12R)-Trimethyl-2E-tridecenoyl-CoA2410.8EHHADH, HADHA
39steroid4510.8MBL2, APOH, SCP2, F5, PROS1, EHHADH
40(3S)-3-Hydroxydodec-cis-6-enoyl-CoA2410.8HADHA, EHHADH
41cyclophosphamide45 50 1112.8MBL2, APOH, PIGA, F5
42(2S,6R,10R)-Trimethyl-2E-hendecenoyl-CoA2410.8EHHADH, HADHA
43(3S)-3-Hydroxy-cis,cis-palmito-7,10-dienoyl-CoA2410.8EHHADH, HADHA
44(3S)-3-Hydroxy-cis-8-tetradecenoyl-CoA2410.8EHHADH, HADHA
45cardiolipin45 1111.7F5, APOH, MBL2
46(S)-3-hydroxypalmitoleoyl-CoA2410.6HSD17B4, EHHADH
47phosphatidylethanolamine45 1111.6F5, SCP2, APOH
48(S)-3-Hydroxyisobutyryl-CoA2410.6HADHA, EHHADH
49i-bop45 2911.5HADHB, HADHA
50inogatran4510.3F5, SERPINC1

GO Terms for genes affiliated with Protein S Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Protein S Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00573910.9ACOX1, HSD17B4, PDHA1, HADHB, HADHA, SCP2
2extracellular spaceGO:00561510.7CETP, SERPINC1, F5, CTSZ, APOH, MBL2
3peroxisomeGO:00577710.6HSD17B4, SCP2, EHHADH, ACOX1
4mitochondrial fatty acid beta-oxidation multienzyme complexGO:01650710.5HADHA, HADHB
5peroxisomal matrixGO:00578210.3HSD17B4, SCP2, ACOX1

Biological processes related to Protein S Deficiency according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cellular lipid metabolic processGO:04425510.9HSD17B4, HADHB, HADHA, SCP2, ACOX1
2fatty acid beta-oxidationGO:00663510.9EHHADH, HADHA, HADHB, HSD17B4
3alpha-linolenic acid metabolic processGO:03610910.8HSD17B4, SCP2, ACOX1
4unsaturated fatty acid metabolic processGO:03355910.7HSD17B4, SCP2, ACOX1
5fatty acid beta-oxidation using acyl-CoA oxidaseGO:03354010.7HSD17B4, SCP2, ACOX1
6small molecule metabolic processGO:04428110.7HSD17B4, PDHA1, HADHB, HADHA, SCP2, ACOX1
7cardiolipin acyl-chain remodelingGO:03596510.6HADHB, HADHA
8phospholipid transportGO:01591410.6CETP, SCP2
9lipid homeostasisGO:05508810.6CETP, ACOX1
10very long-chain fatty acid metabolic processGO:00003810.3ACOX1, HSD17B4

Molecular functions related to Protein S Deficiency according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
13-hydroxyacyl-CoA dehydrogenase activityGO:00385710.8EHHADH, HADHA, HADHB, HSD17B4
2long-chain-enoyl-CoA hydratase activityGO:01650810.7HSD17B4, HADHB, HADHA
3enoyl-CoA hydratase activityGO:00430010.7EHHADH, HADHA, HADHB
4fatty-acyl-CoA bindingGO:00006210.6HADHB, HADHA, SCP2
5receptor bindingGO:00510210.6HSD17B4, MBL2, SCP2, EHHADH, ACOX1
6sterol bindingGO:03293410.6SCP2D1, HSD17B4
7long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:01650910.3HADHA, HADHB

Products for genes affiliated with Protein S Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Protein S Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet