PedAM

Pediatric Disease Annotations & Medicines


	protein s deficiency

Disease ID	412
Disease	protein s deficiency
Definition	An autosomal dominant disorder showing decreased levels of plasma protein S antigen or activity, associated with venous thrombosis and pulmonary embolism. PROTEIN S is a vitamin K-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated PROTEIN C (also a vitamin K-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (From Harrison's Principles of Internal Medicine, 12th ed, p1511; Wintrobe's Clinical Hematology, 9th ed, p1523)
Synonym	defic protein s deficiencies, protein s deficiency protein s deficiency, protein s hereditary thrombophilia due to protein s deficiency protein s defic protein s deficiencies protein s deficiency [disease/finding] protein s deficiency disease protein s deficiency disease (disorder) s protein deficiency
DOID	DOID:2451
UMLS	C0242666
MeSH	D018455
SNOMED-CT	SNOMEDCT_US_2016_09_01:1563006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:22) C0040053 \| thrombosis \| 7 C0398623 \| hypercoagulable state \| 3 C0040053 \| thrombus \| 2 C0034150 \| purpura \| 2 C0442874 \| neuropathy \| 2 C0085650 \| purpura fulminans \| 2 C0282492 \| sneddon syndrome \| 1 C0026764 \| myeloma \| 1 C0034065 \| pulmonary embolism \| 1 C0577627 \| metal allergy \| 1 C0238309 \| ischemic neuropathy \| 1 C0398623 \| hypercoagulability \| 1 C0006666 \| calciphylaxis \| 1 C0008049 \| varicella \| 1 C0026764 \| multiple myeloma \| 1 C0023890 \| cirrhosis \| 1 C0029132 \| optic neuropathy \| 1 C0026654 \| moyamoya syndrome \| 1 C0026654 \| moyamoya \| 1 C0022116 \| ischemia \| 1 C0004153 \| atherosclerosis \| 1 C0037198 \| sinus thrombosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PROS1 \| 5627 \| GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 4524 \| MTHFR \| infer 5627 \| PROS1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:43) 350 \| APOH \| DISEASES 3053 \| SERPIND1 \| DISEASES 10544 \| PROCR \| DISEASES 2158 \| F9 \| DISEASES 5327 \| PLAT \| DISEASES 3191 \| HNRNPL \| DISEASES 5054 \| SERPINE1 \| DISEASES 3273 \| HRG \| DISEASES 7035 \| TFPI \| DISEASES 5624 \| PROC \| DISEASES 725 \| C4BPB \| DISEASES 2671 \| GFER \| DISEASES 2161 \| F12 \| DISEASES 7450 \| VWF \| DISEASES 4135 \| MAP6 \| DISEASES 23592 \| LEMD3 \| DISEASES 2147 \| F2 \| DISEASES 5340 \| PLG \| DISEASES 9377 \| COX5A \| DISEASES 5345 \| SERPINF2 \| DISEASES 2200 \| FBN1 \| DISEASES 23545 \| ATP6V0A2 \| DISEASES 5104 \| SERPINA5 \| DISEASES 2152 \| F3 \| DISEASES 2266 \| FGG \| DISEASES 445329 \| SULT1A4 \| DISEASES 6818 \| SULT1A3 \| DISEASES 2157 \| F8 \| DISEASES 722 \| C4BPA \| DISEASES 462 \| SERPINC1 \| DISEASES 2153 \| F5 \| DISEASES 7073 \| TIAL1 \| DISEASES 959 \| CD40LG \| DISEASES 55906 \| ZC4H2 \| DISEASES 2159 \| F10 \| DISEASES 2155 \| F7 \| DISEASES 4524 \| MTHFR \| DISEASES 7056 \| THBD \| DISEASES 114899 \| C1QTNF3 \| DISEASES 5627 \| PROS1 \| DISEASES 9829 \| DNAJC6 \| DISEASES 721 \| C4B \| DISEASES 3347 \| HTN3 \| DISEASES
Locus	(Waiting for update.)

Disease ID	412
Disease	protein s deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0004936 \| Blood clot in vein \| 3 HP:0001297 \| Cerebral vascular events \| 2 HP:0000979 \| Purpura \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0100724 \| Hypercoagulability \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0004850 \| Recurrent deep vein thrombosis \| 1 HP:0005305 \| Cerebral vein thrombosis \| 1 HP:0004420 \| Arterial thrombosis \| 1 HP:0030248 \| Blood clot in mesentertic vein \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0010885 \| Aseptic necrosis \| 1 HP:0100310 \| Extradural hematoma \| 1 HP:0100758 \| Gangrene \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0006775 \| Multiple myeloma \| 1

Disease ID	412
Disease	protein s deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:33) C2707258 \| infections C2584620 \| hereditary thrombophilia C2363973 \| chronic thromboembolic pulmonary hypertension C2363741 \| hiv-1 infection C1096458 \| vascular occlusion C0917798 \| cerebral ischemia C0856761 \| budd chiari syndrome C0854142 \| aortic thrombosis C0795687 \| cerebral thrombosis C0574013 \| superficial femoral artery thrombosis C0517555 \| venous thrombosis C0398623 \| hypercoagulable state C0392041 \| testicular infarction C0338575 \| superior sagittal sinus thrombosis C0334583 \| pilocytic astrocytoma C0267412 \| mesenteric venous thrombosis C0267412 \| mesenteric thrombosis C0265070 \| mondor's disease C0221011 \| degos disease C0155773 \| portal vein thrombosis C0152026 \| retinal vasculitis C0151945 \| cerebral venous thrombosis C0151942 \| arterial thrombosis C0149871 \| deep venous thrombosis C0085650 \| purpura fulminans C0040053 \| thrombosis C0037998 \| splenic infarction C0037198 \| sinus thrombosis C0034074 \| pulmonary infarction C0034065 \| pulmonary embolism C0027726 \| nephrotic syndrome C0018994 \| hemobilia C0000809 \| recurrent abortion
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:10) C0040053 \| thrombosis \| 7 C0042487 \| venous thrombosis \| 3 C0398623 \| hypercoagulable state \| 3 C0085650 \| purpura fulminans \| 2 C0151942 \| arterial thrombosis \| 1 C0037198 \| sinus thrombosis \| 1 C0267412 \| mesenteric thrombosis \| 1 C0151945 \| cerebral venous thrombosis \| 1 C0034065 \| pulmonary embolism \| 1 C0267412 \| mesenteric venous thrombosis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1799963	22198364	2153	F5	umls:C0242666	BeFree	We investigated the prevalence of the factor V Leiden (F5 rs6025) and prothrombin gene G20210A (F2 rs1799963) polymorphisms, and antithrombin, protein C and protein S deficiencies, and their association with intrauterine fetal death.	0.035829122	2011	F2	11	46739505	G	A
rs387906674	21172841	5627	PROS1	umls:C0242666	BeFree	PROS1 R355C mutation cosegregated with PSD type III and premature white matter infarctions in the index family.	0.02969036	2010	PROS1	3	93893025	G	A
rs6025	22198364	2153	F5	umls:C0242666	BeFree	We investigated the prevalence of the factor V Leiden (F5 rs6025) and prothrombin gene G20210A (F2 rs1799963) polymorphisms, and antithrombin, protein C and protein S deficiencies, and their association with intrauterine fetal death.	0.035829122	2011	F5	1	169549811	C	T

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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