MCID: BLD054
MIFTS: 40

Blood Protein Disease

Categories: Blood diseases

Aliases & Classifications for Blood Protein Disease

MalaCards integrated aliases for Blood Protein Disease:

Name: Blood Protein Disease 12 15 72
Blood Protein Disorders 44 72
Blood Protein Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:620
MeSH 44 D001796
UMLS 72 C0005830 C4020764

Summaries for Blood Protein Disease

MalaCards based summary : Blood Protein Disease, also known as blood protein disorders, is related to poems syndrome and sickle cell anemia. An important gene associated with Blood Protein Disease is MYOM2 (Myomesin 2), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Allograft rejection. The drugs Zoledronic Acid and Denosumab have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and testes, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 75 Blood proteins, also termed plasma proteins, are proteins present in blood plasma. They serve many... more...

Related Diseases for Blood Protein Disease

Diseases related to Blood Protein Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 poems syndrome 31.5 VEGFA MYOM2 IL6
2 sickle cell anemia 31.0 MTHFR HBS1L HBB F2 BCL11A
3 monoclonal gammopathy of uncertain significance 30.4 MYOM2 MAG IL6 CD38 B2M
4 endocarditis 29.7 SERPINC1 IL6 F2
5 peripheral nervous system disease 29.5 MYOM2 MAG IL6
6 plasmacytoma 29.1 IL6 CD38 B2M
7 purpura 27.9 SERPINC1 PROS1 PROC IL6 F2 C4B
8 heparin-induced thrombocytopenia 10.7 SERPINC1 CD40LG
9 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.7 HBB BCL11A
10 intestinal impaction 10.7 SERPINC1 F2
11 leech infestation 10.7 SERPINC1 F2
12 cerebral sinovenous thrombosis 10.7 PROS1 F2
13 indolent myeloma 10.6 MYOM2 B2M
14 mononeuritis of upper limb and mononeuritis multiplex 10.6 MYOM2 MAG
15 giant hemangioma 10.6 SERPINC1 F2
16 mononeuritis multiplex 10.6 MYOM2 MAG
17 intracranial embolism 10.6 SERPINC1 F2
18 fournier gangrene 10.6 SERPINC1 F2 CD40LG
19 alpha-2-plasmin inhibitor deficiency 10.6 SERPINC1 F2
20 hemoglobinemia 10.6 HBB B2M
21 chronic polyneuropathy 10.6 MYOM2 MAG
22 immunodeficiency due to a classical component pathway complement deficiency 10.6 C4B C4A
23 sagittal sinus thrombosis 10.5 SERPINC1 F2
24 median neuropathy 10.5 VEGFA MYOM2
25 juvenile dermatitis herpetiformis 10.5 C4B C4A
26 prothrombin deficiency, congenital 10.5 SERPINC1 F2
27 blue toe syndrome 10.5 SERPINC1 F2
28 glomeruloid hemangioma 10.5 VEGFA MYOM2
29 mesenteric vascular occlusion 10.4 MTHFR F2
30 hemoglobin e disease 10.4 HBS1L HBB F2
31 ischemic colitis 10.4 VEGFA SERPINC1 F2
32 acute endophthalmitis 10.4 VEGFA C4A
33 hemoglobin c disease 10.4 MTHFR HBB
34 spinal cord infarction 10.4 SERPINC1 MTHFR F2
35 thalassemia 10.4 HBS1L HBB BCL11A
36 sickle cell disease 10.4 HBS1L HBB BCL11A
37 eclampsia 10.4 SERPINC1 MTHFR F2
38 livedoid vasculitis 10.3 SERPINC1 MTHFR F2
39 thrombophlebitis 10.3 SERPINC1 MTHFR F2
40 hepatic infarction 10.3 SERPINC1 MTHFR F2
41 antithrombin iii deficiency 10.3 SERPINC1 MTHFR F2
42 portal vein thrombosis 10.3 SERPINC1 MTHFR F2
43 pulmonary artery disease 10.3 SERPINC1 MTHFR F2
44 hepatic vascular disease 10.3 SERPINC1 MTHFR F2
45 placental abruption 10.3 SERPINC1 MTHFR F2
46 intracranial hypertension 10.3 SERPINC1 MTHFR F2
47 blood coagulation disease 10.3 SERPINC1 MTHFR F2
48 thrombophilia due to activated protein c resistance 10.3 SERPINC1 MTHFR F2
49 nonarteritic anterior ischemic optic neuropathy 10.3 SERPINC1 MTHFR F2
50 hemifacial spasm 10.3 VEGFA MTHFR

Graphical network of the top 20 diseases related to Blood Protein Disease:



Diseases related to Blood Protein Disease

Symptoms & Phenotypes for Blood Protein Disease

MGI Mouse Phenotypes related to Blood Protein Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.18 B2M BCL11A C4B CD38 CD40LG F2
2 homeostasis/metabolism MP:0005376 10.17 B2M BCL11A C4B CD38 CD40LG F2
3 cardiovascular system MP:0005385 10.06 B2M C4B CD40LG F2 IL6 PROC
4 immune system MP:0005387 10.03 B2M BCL11A C4B CD38 CD40LG F2
5 liver/biliary system MP:0005370 9.76 B2M C4B IL6 MTHFR PROC PROS1
6 nervous system MP:0003631 9.7 B2M BCL11A CD40LG F2 IL6 MAG
7 reproductive system MP:0005389 9.23 B2M CD40LG F2 HBS1L IL6 MTHFR

Drugs & Therapeutics for Blood Protein Disease

Drugs for Blood Protein Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zoledronic Acid Approved Phase 3 118072-93-8 68740
2
Denosumab Approved Phase 3 615258-40-7
3
Bortezomib Approved, Investigational Phase 3 179324-69-7 93860 387447
4
Vorinostat Approved, Investigational Phase 3 149647-78-9 5311
5 Anti-Inflammatory Agents Phase 3
6 Peripheral Nervous System Agents Phase 3
7 Histone Deacetylase Inhibitors Phase 3
8 Hemostatics Phase 3
9 Diphosphonates Phase 3
10 Bone Density Conservation Agents Phase 3
11 Analgesics, Non-Narcotic Phase 3
12 Analgesics Phase 3
13 Anti-Inflammatory Agents, Non-Steroidal Phase 3
14 Antirheumatic Agents Phase 3
15
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1, Phase 2 1177-87-3
16
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
17 Ricolinostat Investigational Phase 1, Phase 2 1316214-52-4
18 Rifamycins Phase 1, Phase 2
19 rifamycin SV Phase 1, Phase 2
20 Antiemetics Phase 1, Phase 2
21 Gastrointestinal Agents Phase 1, Phase 2
22 HIV Protease Inhibitors Phase 1, Phase 2
23 Hormones Phase 1, Phase 2
24
protease inhibitors Phase 1, Phase 2
25 glucocorticoids Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Antineoplastic Agents, Hormonal Phase 1, Phase 2
28 Anti-Bacterial Agents Phase 1, Phase 2
29 Immunosuppressive Agents Phase 1, Phase 2
30 Hormone Antagonists Phase 1, Phase 2
31 Autonomic Agents Phase 1, Phase 2
32 BB 1101 Phase 1, Phase 2
33 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
34
Erlotinib Hydrochloride Phase 1 183319-69-9 176871
35 Protein Kinase Inhibitors Phase 1
36 Antibodies Phase 1
37 Immunoglobulins Phase 1
38 Antibodies, Monoclonal Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Multicenter Study of Denosumab Compared With Zoledronic Acid in the Treatment of Bone Disease in Subjects With Newly Diagnosed Multiple Myeloma Completed NCT01345019 Phase 3 Denosumab;Zoledronic acid;Placebo to Denosumab;Placebo to zoledronic acid
2 An International, Multicenter, Randomized, Double-Blind Study of Vorinostat (MK0683) or Placebo in Combination With Bortezomib in Patients With Multiple Myeloma Completed NCT00773747 Phase 3 vorinostat;bortezomib;placebo to vorinostat
3 Phase 3b, Randomized Trial of Continuous Revlimid® (Lenalidomide) Therapy Versus Observation Following Induction Therapy That Does Not Include Revlimid, Pomalyst® or Thalomid® in Newly Diagnosed Multiple Myeloma Withdrawn NCT02155634 Phase 3 Lenalidomide
4 Phase 1/2 Open-Label, Multiple-Dose, Dose-Escalation Study to Evaluate the Safety and Tolerability of SNS01-T Administered by Intravenous Infusion in Patients With Relapsed or Refractory B Cell Malignancies Unknown status NCT01435720 Phase 1, Phase 2
5 A Phase I/II Open-label Multicenter Study of AT7519M Alone and in Combination With Bortezomib in Patients With Previously Treated Multiple Myeloma Completed NCT01183949 Phase 1, Phase 2 AT7519M;Bortezomib
6 An Open Label, Dose Escalation, Multicenter Phase 1/2 Study of KW-2478 in Combination With Bortezomib in Subjects With Relapsed and/or Refractory Multiple Myeloma Completed NCT01063907 Phase 1, Phase 2 KW-2478;Bortezomib
7 A Phase 1B/2 Multi-Center, Open Label, Dose-Escalation Study to Determine the Maximum Tolerated Dose, Safety, and Efficacy of ACY-1215 (RICOLINOSTAT) in Combination With Pomalidomide and Low-Dose Dexamethasone in Patients With Relapsed and Refractory Multiple Myeloma Active, not recruiting NCT01997840 Phase 1, Phase 2 ACY-1215 (Ricolinostat) in combination with pomalidomide and dexamethasone
8 A Phase 1 Study of AV-299 (Formerly SCH 900105) Administered by IV Infusion as Monotherapy in Advanced Solid Tumors, Lymphomas, or Multiple Myeloma or in Combination With Erlotinib in Advanced Solid Tumors Completed NCT00725634 Phase 1
9 Project 2 (Mayo): Transfusion-Induced Alterations of Pulmonary and Immune Function in Mechanically Ventilated Patients Completed NCT00751322
10 Bedside Assessment of Coagulation in Post-partum Hemorrhage by Thromboelastography (TEG ®6S) Not yet recruiting NCT03592303

Search NIH Clinical Center for Blood Protein Disease

Cochrane evidence based reviews: blood protein disorders

Genetic Tests for Blood Protein Disease

Anatomical Context for Blood Protein Disease

MalaCards organs/tissues related to Blood Protein Disease:

41
Bone, Liver, Testes, B Cells, Bone Marrow, Heart, Kidney

Publications for Blood Protein Disease

Articles related to Blood Protein Disease:

(show top 50) (show all 82)
# Title Authors PMID Year
1
[Blood protein disorders in the course of acute and chronic osteomyelitis in children and the role of protein therapy in their compensation]. 38
606015 1977
2
[Blood protein disorders in collagen diseases. Experiences on 4 cases studied by simple electrophoresis, immunoelectrophoresis and electrophoretic immunoquantification]. 38
5003416 1971
3
[Congenital and acquired blood protein disorders]. 38
5156863 1971
4
[Therapy of blood protein disorders]. 38
4990207 1970
5
[Bovine gamma globulin in rectal administration in the therapy of blood protein disorders]. 38
4192807 1970
6
[Relation between occupation and frequency of blood protein disorders]. 38
5447228 1970
7
[Diagnostic method for blood protein disorders]. 38
4185052 1969
8
[Current studies on electron microscopic leukocyte morphology. Microstructure of the cells in blood protein disorders]. 38
4897034 1969
9
[Blood protein disorders]. 38
4178409 1968
10
[Blood protein disorders in chronic liver diseases: "direct" and "indirect" liver function tests]. 38
5709937 1968
11
[Column gel-filtration. Possibilities of use in the diagnosis of blood protein disorders]. 38
5747755 1968
12
[Determination of digitalemia and its relation to the cardiokinetic effect in patients with blood protein disorders]. 38
5717509 1968
13
[A new test for blood protein disorders]. 38
4185151 1967
14
[The Jones and Thompson test in the diagnosis of blood protein disorders. (Study of the reaction in relation to the serum immunoglobulin level)]. 38
4176301 1967
15
[Dysprotidemic blood protein disorders with paraproteinemia and skeletal diseases]. 38
5963958 1966
16
[Influence of blood protein disorders on the mechanism of experimental hepatic regeneration]. 38
5908186 1966
17
[Blood protein disorders in various internal diseases]. 38
5899212 1965
18
[Immunochemical study on blood protein disorders]. 38
5895144 1965
19
[Anti-liver antibodies in the blood of children affected by liver diseases and by various blood protein disorders]. 38
5849548 1965
20
[Limitations of immunoelectrophoresis in the diagnosis of blood protein disorders]. 38
4961497 1965
21
[TECHNICAL AND METHODOLOGICAL LIMITATIONS IN THE EVALUATION OF BLOOD PROTEIN DISORDERS]. 38
14269262 1964
22
[LYMPHADENOPATHIES AND BLOOD PROTEIN DISORDERS OR MEDICINAL ORIGIN, SIMULATING A MALIGNANT DISEASE]. 38
14304669 1964
23
[CONTRIBUTION OF THE LABORATORY IN THE DIAGNOSIS OF BLOOD PROTEIN DISORDERS]. 38
14111278 1964
24
[BLOOD PROTEIN DISORDERS IN SOME KIDNEY DISEASES IN CHILDREN]. 38
14157294 1964
25
[THE PHYSIOPATHOLOGY OF BLOOD PROTEIN DISORDERS]. 38
14111275 1964
26
[THE BLOOD PROTEIN DISORDERS: CLINICAL ASPECTS]. 38
14111276 1964
27
[PATHOPHYSIOLOGY OF BLOOD PROTEIN DISORDERS AND GENESIS OF PROTEINS IN DIABETIC ANGIOPATHY. 5. THE PLACE OF THE INTERRENAL SYSTEM AND FUNCTION OF ANABOLIC STEROIDS IN THE DIABETIC-ANGIOPATHIC SERUM PROTEIN METABOLISM]. 38
14093648 1963
28
[THE LUNG IN BLOOD DISEASES, RETICULOSIS AND BLOOD PROTEIN DISORDERS]. 38
14092744 1963
29
[Congenital heart diseases and blood protein disorders (study of 40 cases)]. 38
13983228 1962
30
[Study of blood protein disorders in the colitis-hypochlorhydria syndrome]. 38
14495292 1962
31
[Flocculation tests in liver diseases and blood protein disorders]. 38
13770540 1961
32
[Purpura caused by blood protein disorders. Benign hyperglobulinemic purpura with]. 38
13831200 1961
33
[Blood protein disorders in a rabbit infested with Fasciola hepatica. Electrophoretic study]. 38
13749559 1960
34
[Research on the ironbinding function of the blood in patients with blood protein disorders]. 38
13689953 1960
35
[Therapeutic trends in apparently primary blood protein disorders]. 38
13689770 1960
36
[Turbidimetric determination of gamma globulins in the course of blood protein disorders]. 38
13689237 1960
37
[Considerations on the interpretation of tests of blood protein disorders and the electrophoretic spectrum in liver diseases]. 38
14410967 1960
38
[Apropos of some cases of blood protein disorders]. 38
13687175 1960
39
[Study of blood protein disorders]. 38
14421178 1960
40
[The ocular signs of blood protein disorders]. 38
14430971 1959
41
[Relations between erythrocyte clumping & blood protein disorders; clinical & experimental study]. 38
13670734 1959
42
[Significance of blood protein disorders in evaluation of indications for radical surgical intervention in osteoarticular tuberculosis]. 38
13647868 1959
43
[Blood protein disorders in children with burns as a prognostic index]. 38
13624259 1958
44
[Blood protein disorders induced by injection of various corticosteroids in rat]. 38
13606967 1958
45
[Blood protein disorders plasmacytoma; differences in the results of different methods of protein analysis]. 38
13554903 1958
46
[Blood protein disorders]. 38
13574533 1958
47
[The effect of acute hypoxemia on the course of experimental inflammation and blood protein disorders]. 38
13612247 1958
48
[Study of blood protein disorders in cancer patients]. 38
13519562 1957
49
[Use of the Cohn method of fractionation in clinical medicine for analysis of the protein fractions of the sera of normal subjects and those with blood protein disorders]. 38
13499024 1957
50
[Behavior of plasma protein-bound iodine following thyroxin administration in patients with blood protein disorders]. 38
13461955 1957

Variations for Blood Protein Disease

Expression for Blood Protein Disease

Search GEO for disease gene expression data for Blood Protein Disease.

Pathways for Blood Protein Disease

Pathways related to Blood Protein Disease according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 VEGFA SERPINC1 PROS1 PROC MAG HBB
2
Show member pathways
12.63 VEGFA IL6 CD40LG C4A B2M
3
Show member pathways
12.09 MTHFR IL6 HBB F2
4
Show member pathways
11.92 PROS1 PROC MAG F2
5 11.77 VEGFA IL6 C4B C4A
6
Show member pathways
11.72 PROS1 PROC F2
7
Show member pathways
11.66 SERPINC1 PROS1 PROC F2
8 11.53 IL6 C4B C4A
9
Show member pathways
11.41 VEGFA IL6 CD40LG
10 11.24 SERPINC1 PROS1 PROC F2 C4B C4A
11 11.19 IL6 HBB CD40LG
12 10.31 PROS1 PROC F2

GO Terms for Blood Protein Disease

Cellular components related to Blood Protein Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 SERPINC1 PROS1 HBS1L HBB F2 CD38
2 extracellular space GO:0005615 9.7 VEGFA SERPINC1 PROS1 PROC IL6 HBB
3 endoplasmic reticulum lumen GO:0005788 9.63 SERPINC1 PROC IL6 F2 C4A B2M
4 Golgi lumen GO:0005796 9.54 PROS1 PROC F2
5 blood microparticle GO:0072562 9.1 SERPINC1 PROS1 HBB F2 C4B C4A
6 extracellular region GO:0005576 10 VEGFA SERPINC1 PROS1 PROC IL6 HBB

Biological processes related to Blood Protein Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.88 VEGFA PROC IL6 CD40LG CD38
2 post-translational protein modification GO:0043687 9.84 SERPINC1 PROC IL6 C4A
3 platelet activation GO:0030168 9.7 IL6 F2 CD40LG
4 negative regulation of endopeptidase activity GO:0010951 9.62 SERPINC1 PROS1 C4B C4A
5 negative regulation of neuron projection development GO:0010977 9.58 MAG CD38 B2M
6 regulation of complement activation GO:0030449 9.56 PROS1 F2 C4B C4A
7 blood coagulation GO:0007596 9.55 SERPINC1 PROS1 PROC HBB F2
8 cardiac muscle fiber development GO:0048739 9.51 VEGFA MYOM2
9 negative regulation of blood coagulation GO:0030195 9.49 PROS1 PROC
10 regulation of blood coagulation GO:0030193 9.46 SERPINC1 F2
11 negative regulation of bone resorption GO:0045779 9.43 IL6 CD38
12 positive regulation of apoptotic cell clearance GO:2000427 9.37 C4B C4A
13 hemostasis GO:0007599 9.26 SERPINC1 PROS1 PROC F2
14 cellular protein metabolic process GO:0044267 9.1 SERPINC1 PROC IL6 F2 C4A B2M

Molecular functions related to Blood Protein Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.96 PROC F2
2 endopeptidase inhibitor activity GO:0004866 8.8 PROS1 C4B C4A

Sources for Blood Protein Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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