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MCID: SRC025
MIFTS: 66

Sarcoidosis 1

Categories: Genetic diseases, Rare diseases, Immune diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Endocrine diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Sarcoidosis 1

About this section

MalaCards integrated aliases for Sarcoidosis 1:

Name: Sarcoidosis 1 57 75 6
Sarcoidosis 57 12 76 53 59 75 55 43 44 15 63 73
Boeck Sarcoid 57 12 59 75
Sarcoidosis, Susceptibility to, 1 57 13
Besnier-Boeck-Schaumann Disease 59 75
Ss1 57 75
Sarcoidosis, Susceptibility to, Type 1 40
Lymphogranulomatosis 12
Schaumann's Disease 53
Sarcoid of Boeck 53
Hodgkin Disease 73
Boeck's Sarcoid 59

Characteristics:

Orphanet epidemiological data:

59
sarcoidosis
Inheritance: Multigenic/multifactorial; Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset usually before age 40 years
systemic granulomatous disease
generalized fatigue
u.s. frequency higher in blacks than whites


HPO:

32
sarcoidosis 1:
Inheritance sporadic


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Neuronal diseases Eye diseases Nephrological diseases Respiratory diseases Bone diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare endocrine diseases


Sources

Summaries for Sarcoidosis 1

About this section
NIH Rare Diseases : 53 Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. If these tiny granulomas grow and clump together in an organ, they can affect the organ's structure and function. Overtime, this can lead to permanent scarring or thickening of the organ tissue (also called fibrosis). Although the granulomas can be found in almost any part of the body, they occur most commonly in the lungs and lymph nodes. Signs and symptoms of sarcoidosis vary based on the location of the granulomas and the severity of the condition. The exact cause of sarcoidosis is poorly understood. In many cases, treatment is not necessary and sarcoidosis will resolve on its own. However, therapies such as corticosteroids, immunosuppressants, and antimalarial drugs, are available to control symptoms, prevent complications, and improve outcomes.

MalaCards based summary : Sarcoidosis 1, also known as sarcoidosis, is related to peritonitis and pulmonary sarcoidosis, and has symptoms including coughing and snoring. An important gene associated with Sarcoidosis 1 is HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Azathioprine and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and lymph node, and related phenotypes are hypothyroidism and hypothermia

Disease Ontology : 12 A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.

MedlinePlus : 43 Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. It starts as tiny, grain-like lumps, called granulomas. Sarcoidosis can affect any organ in your body. No one is sure what causes sarcoidosis. It affects men and women of all ages and races. It occurs mostly in people ages 20 to 50, African Americans, especially women, and people of Northern European origin. Many people have no symptoms. If you have symptoms, they may include Cough Shortness of breath Weight loss Night sweats Fatigue Tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. Not everyone who has the disease needs treatment. If you do, prednisone, a type of steroid, is the main treatment. NIH: National Heart, Lung, and Blood Institute

UniProtKB/Swiss-Prot : 75 Sarcoidosis 1: An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved.

PubMed Health : 63 About sarcoidosis: Sarcoidosis (sar-koy-DO-sis) is a disease of unknown cause that leads to inflammation. This disease affects your body’s organs.Normally, your immune system defends your body against foreign or harmful substances. For example, it sends special cells to protect organs that are in danger.These cells release chemicals that recruit other cells to isolate and destroy the harmful substance. Inflammation occurs during this process. Once the harmful substance is gone, the cells and the inflammation go away.In people who have sarcoidosis, the inflammation doesn't go away. Instead, some of the immune system cells cluster to form lumps called granulomas (gran-yu-LO-mas) in various organs in your body.

Wikipedia : 76 Sarcoidosis is a disease involving abnormal collections of inflammatory cells that form lumps known as... more...

Description from OMIM: 181000
Sources

Related Diseases for Sarcoidosis 1

About this section

Diseases in the Sarcoidosis 1 family:

Sarcoidosis 2 Sarcoidosis 3

Diseases related to Sarcoidosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 210)
# Related Disease Score Top Affiliating Genes
1 peritonitis 30.8 CCL2 ICAM1 IL1B TNF
2 pulmonary sarcoidosis 29.2 ACE CCL2 CXCR3 ICAM1 IFNG IL18
3 sarcoidosis 2 11.2
4 granulomatous dermatitis 11.1 ACE NOD2 TNF
5 angioimmunoblastic t-cell lymphoma 11.1
6 chronic beryllium disease 11.1 HLA-DRB1 IFNG TNF
7 microscopic colitis 11.1 HLA-DRB1 IFNG TNF
8 nontuberculous mycobacterial lung disease 11.1 HLA-DRB1 SLC11A1 TNF
9 hemorrhagic fever 11.1 HLA-DRB1 IFNG TNF
10 rheumatoid factor-negative juvenile idiopathic arthritis 11.1 HLA-DRB1 IL2RA SLC11A1
11 ileocolitis 11.0 IL2RA NOD2 TNF
12 rheumatic heart disease 11.0 ACE HLA-DRB1 TNF
13 inflammatory bowel disease 3 11.0 IL18 NOD2 TNF
14 central nervous system vasculitis 11.0 HLA-DRB1 IL1B TNF
15 subacute cutaneous lupus erythematosus 11.0 ACE TNF
16 staphylococcal toxic shock syndrome 11.0 IFNG IL1B TNF
17 autoimmune myocarditis 11.0 IFNG IL1B TNF
18 mixed connective tissue disease 11.0 HLA-DRB1 IFNG TNF
19 echinococcosis 11.0 HLA-DRB1 IFNG TNF
20 posterior uveitis 11.0 IFNG IL2RA TNF
21 meconium aspiration syndrome 11.0 IFNG SCGB1A1 TNF
22 systemic onset juvenile idiopathic arthritis 11.0 IL18 IL1B TNF
23 dengue hemorrhagic fever 11.0 HLA-DRB1 IFNG TNF
24 mumps 11.0 HLA-DRB1 IFNG TNF
25 palindromic rheumatism 11.0 HLA-DRB1 IL1B TNF
26 type 1 diabetes mellitus 12 11.0 HLA-DRB1 SLC11A1
27 skin sarcoidosis 11.0 ACE TNF
28 commensal bacterial infectious disease 11.0 BTNL2 IL1B TNF
29 blau syndrome 11.0 IL1B NOD2 TNF
30 rasmussen encephalitis 11.0 IFNG IL18 TNF
31 microscopic polyangiitis 11.0 HLA-DRB1 TNF
32 sympathetic ophthalmia 11.0 HLA-DRB1 LTA TNF
33 eales disease 11.0 IFNG IL1B TNF
34 campylobacteriosis 11.0 IFNG IL1B SLC11A1
35 hyperlucent lung 11.0 IFNG IL2RA
36 hidradenitis suppurativa 11.0 IL12RB1 NOD2 TNF
37 paracoccidioidomycosis 11.0 IFNG IL18 TNF
38 aseptic meningitis 11.0 IFNG IL1B TNF
39 hidradenitis 11.0 IL12RB1 NOD2 TNF
40 melioidosis 10.9 IFNG IL18 TNF
41 filariasis 10.9 CHIT1 IFNG TNF
42 poliomyelitis 10.9 ICAM1 IFNG TNF
43 smallpox 10.9 IFNG IL18 TNF
44 listeria meningitis 10.9 IL18 LTA TNF
45 cutaneous leishmaniasis 10.9 IFNG SLC11A1 TNF
46 post-transplant lymphoproliferative disease 10.9 LTA SLC11A1 TNF
47 plasmodium vivax malaria 10.9 ICAM1 IFNG TNF
48 optic neuritis 10.9 HLA-DRB1 LTA TNF
49 temporal arteritis 10.9 CCL2 HLA-DRB1 IFNG
50 inflammatory bowel disease 9 10.9 IL18 NOD2

Graphical network of the top 20 diseases related to Sarcoidosis 1:



Diseases related to Sarcoidosis 1
Sources

Symptoms & Phenotypes for Sarcoidosis 1

About this section

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
glaucoma
blurred vision
uveitis
enlarged lacrimal glands
more
Respiratory:
dyspnea
cough

Abdomen Gastrointestinal:
anorexia
associated inflammatory bowel disease

Immunology:
exaggerated cellular immune processes
generalized lymphadenopathy
hyperglobulinemia
activated t-helper cells
activated mononuclear phagocytes

Respiratory Lung:
bilateral hilar adenopathy
pulmonary parenchymal infiltration
pulmonary function tests show interstitial lung disease

AbdomenSpleen:
splenomegaly may occur

Neurologic Central Nervous System:
neurosarcoidosis (5-16% of patients)

Metabolic Features:
fever

Growth Weight:
weight loss

Laboratory Abnormalities:
hypercalciuria
elevated erythrocyte sedimentation rate (esr)
elevated serum angiotensin-converting enzyme (ace)
positive kveim-siltzbach skin test
mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)

Head And Neck Mouth:
enlarged salivary glands

Abdomen Liver:
hepatomegaly may occur
elevated liver function tests may occur

Skeletal:
polyarthritis
bone cysts

Hematology:
bone marrow involvement may cause pancytopenia


Clinical features from OMIM:

181000

Human phenotypes related to Sarcoidosis 1:

59 32 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000821
2 hypothermia 59 32 very rare (1%) Very rare (<4-1%) HP:0002045
3 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
6 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
7 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
8 portal hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001409
9 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
10 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
11 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
12 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
13 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
14 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
15 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
16 hemolytic anemia 59 32 very rare (1%) Very rare (<4-1%) HP:0001878
17 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
18 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
19 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
20 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
21 hyperthyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000836
22 hypercalciuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002150
23 heart block 59 32 occasional (7.5%) Occasional (29-5%) HP:0012722
24 keratoconjunctivitis sicca 59 32 occasional (7.5%) Occasional (29-5%) HP:0001097
25 diabetes insipidus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000873
26 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
27 hemoptysis 59 32 very rare (1%) Very rare (<4-1%) HP:0002105
28 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
29 nephrocalcinosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000121
30 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000787
31 hypercalcemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003072
32 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
33 hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001399
34 abnormality of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0011024
35 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
36 bone cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0012062
37 abnormality of the adrenal glands 59 32 very rare (1%) Very rare (<4-1%) HP:0000834
38 bronchiectasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002110
39 uveitis 59 32 frequent (33%) Frequent (79-30%) HP:0000554
40 eosinophilia 59 32 very rare (1%) Very rare (<4-1%) HP:0001880
41 pneumothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0002107
42 upper airway obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002781
43 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
44 proximal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003701
45 chylothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0010310
46 tubulointerstitial nephritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001970
47 erythema nodosum 59 32 frequent (33%) Frequent (79-30%) HP:0012219
48 abnormality of the nasal mucosa 59 32 occasional (7.5%) Occasional (29-5%) HP:0000433
49 dacryocystitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000620
50 hyperpigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000953

UMLS symptoms related to Sarcoidosis 1:


coughing, snoring

GenomeRNAi Phenotypes related to Sarcoidosis 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.83 TNF ACE ICAM1 IL18 IL1B IL2RA
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.83 TNF ACE ICAM1 IL18 IL1B IL2RA

MGI Mouse Phenotypes related to Sarcoidosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 IL2RA ACE LTA MIF CXCR3 NOD2
2 homeostasis/metabolism MP:0005376 9.97 IL2RA ACE LTA MIF CXCR3 NOD2
3 immune system MP:0005387 9.86 IL2RA ACE LTA CCL2 CHIT1 MIF
4 neoplasm MP:0002006 9.28 ACE MIF CXCR3 ICAM1 SCGB1A1 IFNG
Sources

Drugs & Therapeutics for Sarcoidosis 1

About this section

PubMedHealth treatment related to Sarcoidosis 1: 63

Not everyone who has sarcoidosis needs treatment. Sometimes the disease goes away on its own. Whether you need treatment and what type of treatment you need depend on your signs and symptoms, which organs are affected, and whether those organs are working well.If the disease affects certain organs—such as your eyes, heart, or brain—you'll need treatment even if you don't have any symptoms.In either case, whether you have symptoms or not, you should see your doctor for ongoing care. He or she will want to check to make sure that the disease isn't damaging your organs. For example, you may need routine lung function tests to make sure that your lungs are working well.If the disease isn't worsening, your doctor may watch you closely to see whether the disease goes away on its own. If the disease does start to get worse, your doctor can prescribe treatment.The goals of treatment include:Relieving symptomsImproving organ functionControlling inflammation and reducing the size of granulomas (inflamed lumps)Preventing pulmonary fibrosis (lung scarring) if your lungs are affectedYour doctor may prescribe topical treatments and/or medicines to treat the disease.

Drugs for Sarcoidosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 267)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved Phase 4,Phase 2 446-86-6 2265
2
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
3
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 53-03-2 5865
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Remifentanil Approved Phase 4 132875-61-7 60815
9
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
10
Dopamine Approved Phase 4,Not Applicable 51-61-6, 62-31-7 681
11
Methylphenidate Approved, Investigational Phase 4,Not Applicable 113-45-1 4158
12
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
13
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
14
Methylprednisolone Approved, Vet_approved Phase 4,Not Applicable 83-43-2 6741
15
Prednisolone Approved, Vet_approved Phase 4,Not Applicable 50-24-8 5755
16
Interferon beta-1a Approved, Investigational Phase 4,Phase 3 145258-61-3 6438354
17
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
18
Nicotine Approved Phase 4,Phase 1,Phase 2 54-11-5 942 89594
19
Acetylcholine Approved Phase 4 51-84-3 187
20
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
21 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 59-30-3 6037
23
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 1 58-05-9 143 6006
24 Adrenocorticotropic Hormone Phase 4,Phase 2,Phase 3,Not Applicable
25 beta-endorphin Phase 4,Phase 2,Phase 3,Not Applicable
26 Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
27 Hormones Phase 4,Phase 2,Phase 3,Not Applicable
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Not Applicable
29 Melanocyte-Stimulating Hormones Phase 4,Phase 2,Phase 3,Not Applicable
30 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1
31 Adrenergic Agonists Phase 4,Phase 1,Phase 2
32 Adrenergic alpha-2 Receptor Agonists Phase 4
33 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2
34 Analgesics Phase 4,Phase 2,Phase 3
35 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3
36 Analgesics, Opioid Phase 4
37 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable
38 Anesthetics, General Phase 4
39 Anesthetics, Intravenous Phase 4
40 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
41 Epinephryl borate Phase 4
42 Hypnotics and Sedatives Phase 4
43 Narcotics Phase 4
44 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Antiemetics Phase 4,Phase 3,Not Applicable
47 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
49 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Gastrointestinal Agents Phase 4,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 242)
# Name Status NCT ID Phase Drugs
1 Acthar Gel for Chronic Pulmonary Sarcoidosis (ACPS) Unknown status NCT02188017 Phase 4 Acthar gel
2 Use of Roflumilast to Prevent Exacerbations in Fibrotic Sarcoidosis Patients (REFS) Unknown status NCT01830959 Phase 4 Roflumilast;Placebo
3 Safety Evaluation of Dexmedetomidine for EBUS-TBNA Unknown status NCT01381627 Phase 4 Remifentanil;Dexmedetomidine
4 Use of Focalin for Fatigue in Sarcoidosis Completed NCT00361387 Phase 4 d-methylphenidate
5 Inhaled Iloprost for Sarcoidosis-associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
6 Fractionated Versus Target-controlled Propofol Administration in Bronchoscopy Completed NCT02246023 Phase 4
7 Conventional Versus Ultrasound-guided Transbronchial Needle Aspiration for the Diagnosis of Hilar/Mediastinal Lymphadenopathies Completed NCT01658280 Phase 4
8 Pilot Study to Assess the Efficacy and Safety of H.P. Acthar® Gel in Subjects With Pulmonary Sarcoidosis Recruiting NCT03320070 Phase 4 repository corticotropin injection;Placebo
9 Efficacy and Safety of Two Glucocorticoid Regimens in the Treatment of Sarcoidosis Recruiting NCT03265405 Phase 4 Low dose prednisolone;Medium dose prednisolone
10 Riociguat for Sarcoidosis Associated Pulmonary Hypertension Recruiting NCT02625558 Phase 4 Riociguat;Placebo
11 CNS Sarcoidosis and Acthar Gel Recruiting NCT02298491 Phase 4 H.P. Acthar Gel
12 Pirfenidone for Progressive Fibrotic Sarcoidosis Recruiting NCT03260556 Phase 4 Pirfenidone;Placebos
13 d68Ga-DOTATATE PET/CT Assessment of Cardiac Sarcoidosis Not yet recruiting NCT03549598 Phase 4 68Ga-DOTATATE PET/CT;18FDG PET/CT scan;13NH3 PET/CT scan
14 ACTHAR Therapy for Central Nervous System Sarcoidosis Not yet recruiting NCT02920710 Phase 4 Repository Corticotropin Injection
15 Use of CXCL9 as a Biomarker of Acthar Efficacy Not yet recruiting NCT02523092 Phase 4 Acthar gel
16 Study of Nicotine Patches in Patients With Sarcoidosis Suspended NCT00701207 Phase 4 nicotine patch
17 Efficacy Study of Methotrexate to Treat Sarcoid-associated Uveitis Terminated NCT00918554 Phase 4 Methotrexate;Placebo
18 Interventional Cryotherapy for the Eradication of Benign Airway Disease ("ICE the BAD") Terminated NCT00747461 Phase 4
19 Trial to Study the Effects of Supplementary Omega-3 on Serum C-Reactive Protein Levels Terminated NCT00578578 Phase 4
20 Use of Thalidomide in Chronic Uveitis Terminated NCT00314665 Phase 4 Thalidomide
21 Cardiac Sarcoidosis Response To Steroids Trial Withdrawn NCT01210677 Phase 4 Prednisone
22 Implementation Study of Treatment Optimization Recommendations on Relapsing-Remitting Multiple Sclerosis (RR MS) Subjects Withdrawn NCT00101959 Phase 4 Rebif
23 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
24 Ambrisentan (Letairis) for Sarcoidosis Associated Pulmonary Hypertension Unknown status NCT00851929 Phase 2, Phase 3 Ambrisentan
25 ACTHAR Gel for Cutaneous Sarcoidosis: An Open Label Trial Unknown status NCT02348905 Phase 2, Phase 3 ACTHAR Gel 40 units twice weekly;ACTHAR Gel 80 units twice weekly.
26 Imaging of Active Granulomas With [18F]FDG and Selected Inflammatory PET Tracers in Pulmonary Sarcoidosis Unknown status NCT02824419 Phase 2, Phase 3 Methionine;DOTANOC
27 Low-dose Dexamethasone in Newly Diagnosed Pulmonary Sarcoidosis Unknown status NCT01920919 Phase 3 Dexamethasone;Placebo
28 The Efficacy and Safety of CC-10004 in Chronic Cutaneous Sarcoidosis Completed NCT00794274 Phase 2, Phase 3 CC-100004
29 Efficacy and Safety of Influenza Vaccine During Sarcoidosis Completed NCT01687517 Phase 3 Seasonal influenza vaccine available for the 2012-2013 vaccine campaign
30 Use of Armodafinil for Fatigue in Sarcoidosis Completed NCT00555347 Phase 2, Phase 3 Armodafinil;Placebo
31 Tadalafil for Sarcoidosis Associated Pulmonary Hypertension Completed NCT01324999 Phase 2, Phase 3 Tadalafil
32 Trial for the Diagnosis of Sarcoidosis Completed NCT00872612 Phase 3
33 Double Blind, Randomized Trial of Bosentan for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00581607 Phase 2, Phase 3 Bosentan;Placebo;Bosentan;Placebo
34 SARCOTHAL. Thalidomide in Skin Sarcoidosis Completed NCT00305552 Phase 3 THALIDOMIDE
35 Hydroxychloroquine as Steroid-Sparing Agent in Pulmonary Sarcoidosis (HySSAS). Completed NCT02200146 Phase 3 Prednisone;Hydroxychloroquine + Prednisone
36 A Study of Infliximab in Patients With Sarcoidosis Completed NCT00073437 Phase 3 Infliximab
37 Interferon ß-1b Treatment by Cyclical Administration Completed NCT00270816 Phase 2, Phase 3 Interferon-ß-1b;Interferon ß-1b
38 DEtection of Cellular Inflammation With FERumoxytol in the HEART Completed NCT02319278 Phase 2, Phase 3 Ferumoxytol
39 Efficacy and Safety of Fingolimod in Patients With Relapsing-remitting Multiple Sclerosis With Optional Extension Phase Completed NCT00340834 Phase 3 Fingolimod 1.25 mg;Fingolimod 0.5 mg;Interferon β-1a 30 µg
40 Molecular Mechanisms of Volume Overload-Aim 1(SCCOR in Cardiac Dysfunction and Disease) Completed NCT01052428 Phase 2, Phase 3 metoprolol succinate (Toprol XL);Placebo
41 A Trial on Clinical Efficacy of 1% Versus 2% Lignocaine in Cough Suppression and Pain Relief in Patients Undergoing Flexible Bronchoscopy Completed NCT01955824 Phase 2, Phase 3 1% lignocaine;2% lignocaine
42 Study to Evaluate the Efficacy and Safety of ABT-450/Ritonavir/ABT-267 (ABT-450/r/ABT-267) in Japanese Adults With Subgenotype 1b Chronic Hepatitis C Virus (HCV) Infection Completed NCT02023099 Phase 3 ABT-450/r/ABT-267;Placebo
43 Efficacy and Safety Study of Peginterferon Beta-1a in Participants With Relapsing Multiple Sclerosis Completed NCT00906399 Phase 3 BIIB017 (peginterferon beta-1a);Placebo
44 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
45 Study to Evaluate Immunogenicity of the Hepatitis B Antigen of the GSK Biologicals' Candidate Malaria Vaccine (257049) Completed NCT01345240 Phase 3
46 Effects of Linagliptin on Endothelial- , Renal-, and Retinal Function in Patients With Hypertension and Albuminuria Completed NCT02376075 Phase 3 Linagliptin;Placebo
47 Effect of the Number of Needle Revolutions Inside the Node on the Diagnostic Yield of EBUS-TBNA in Sarcoidosis Recruiting NCT02875756 Phase 2, Phase 3
48 Long-term Safety and Efficacy Extension Study for Participants With Advanced Tumors Who Are Currently on Treatment or in Follow-up in a Pembrolizumab (MK-3475) Study (MK-3475-587/KEYNOTE-587) Not yet recruiting NCT03486873 Phase 3 Standard of Care (SOC)
49 Mycophenolate for Pulmonary Sarcoidosis Terminated NCT00262132 Phase 3 Mycophenolate
50 A Study to Evaluate 2 Doses Of Oral Administration Of Laquinimod Compared to Interferon ß-1a Administered by Injection in Participants With Relapsing Remitting Multiple Sclerosis (RRMS) Withdrawn NCT01975298 Phase 3 Laquinimod;Avonex®

Search NIH Clinical Center for Sarcoidosis 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: sarcoidosis

Sources

Genetic Tests for Sarcoidosis 1

About this section
Sources

Anatomical Context for Sarcoidosis 1

About this section

MalaCards organs/tissues related to Sarcoidosis 1:

41
Lung, Skin, Lymph Node, Liver, Heart, Testes, Eye
Sources

Publications for Sarcoidosis 1

About this section

Articles related to Sarcoidosis 1:

# Title Authors Year
1
Sarcoidosis. 1. ( 5059500 )
1972
2
Pulmonary sarcoidosis. 1. Pathophysiologic correlations. ( 5649858 )
1968
3
Sarcoidosis. 1. Ultrastructural investigations on epithelioid cell granulomas. ( 5955900 )
1966
Sources

Variations for Sarcoidosis 1

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ClinVar genetic disease variations for Sarcoidosis 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HLA-DRB1 HLA-DRB1, HLA-DRB1*1101 undetermined variant risk factor
Sources

Expression for Sarcoidosis 1

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Search GEO for disease gene expression data for Sarcoidosis 1.
Sources

Pathways for Sarcoidosis 1

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Pathways related to Sarcoidosis 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 14.02 BTNL2 CCL2 CCL3 CHIT1 HLA-DRB1 ICAM1
2
PEDF Induced Signaling 64
Show member pathways
 13.73 CCL2 CCL3 CXCR3 IFNG IL12RB1 IL18
3
TGF-Beta Pathway 64
Show member pathways
 13.56 CCL2 CCL3 IFNG IL12RB1 IL18 IL1B
4
Akt Signaling 64
Show member pathways
 13.45 CCL2 CCL3 CXCR3 IL12RB1 IL18 IL1B
5
PAK Pathway 64
Show member pathways
 13.36 CCL2 CCL3 CXCR3 IL12RB1 IL18 IL1B
6
Cytokine Signaling in Immune system 66
Show member pathways
 13.34 CCL2 CCL3 HLA-DRB1 ICAM1 IFNG IL12RB1
7
Toll-like Receptor Signaling Pathway 37 1
Show member pathways
 13.08 ACE CCL2 CCL3 IFNG IL18 IL1B
8
Allograft rejection 1 37
Show member pathways
 12.95 HLA-DRB1 ICAM1 IFNG IL12RB1 IL18 IL1B
9
Influenza A 37
Show member pathways
 12.82 CCL2 HLA-DRB1 ICAM1 IFNG IL18 IL1B
10
Regulation of IFNA signaling 66
Show member pathways
 12.72 IFNG IL12RB1 IL18 IL1B IL2RA LTA
11
Immune response IL-23 signaling pathway 22
Show member pathways
 12.66 CCL2 IFNG IL12RB1 IL18 IL1B TNF
12
NF-kappaB Signaling 4
12.61 CCL2 IFNG IL1B IL2RA TNF
13
HTLV-I infection 37
12.49 HLA-DRB1 ICAM1 IL2RA LTA TNF
14
Th17 cell differentiation 37
Show member pathways
 12.46 HLA-DRB1 IFNG IL12RB1 IL18 IL1B IL2RA
15
Folate Metabolism 1
Show member pathways
 12.39 CCL2 ICAM1 IFNG IL1B TNF
16
IL-17 Family Signaling Pathways 65
Show member pathways
 12.35 CCL2 IFNG IL1B TNF
17
Th1 Differentiation Pathway 65
Show member pathways
 12.34 IFNG IL12RB1 IL18 IL1B LTA TNF
18
Tuberculosis 37
12.31 HLA-DRB1 IFNG IL18 IL1B NOD2 TNF
19
Toll Comparative Pathway 64
Show member pathways
 12.3 IFNG IL1B MIF TNF
20
Toxoplasmosis 37
Show member pathways
 12.28 HLA-DRB1 IFNG IL1B TNF
21
Fluid shear stress and atherosclerosis 37
12.17 CCL2 ICAM1 IFNG IL1B TNF
22
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.17 CCL2 CCL3 ICAM1 IFNG IL18 IL1B
23
Spinal Cord Injury 1
12.1 CCL2 ICAM1 IFNG IL1B MIF TNF
24
Interleukin-4 and 13 signaling 66
12.08 CCL2 ICAM1 IL18 IL1B TNF
25
TNF signaling pathway 37
12.02 CCL2 ICAM1 IL1B LTA NOD2 TNF
26
AGE-RAGE signaling pathway in diabetic complications 37
11.98 CCL2 ICAM1 IL1B TNF
27
IL12-mediated signaling events 1
Show member pathways
 11.97 CCL3 HLA-DRB1 IFNG IL12RB1 IL18 IL1B
28
Hematopoietic cell lineage 37
11.96 HLA-DRB1 IL1B IL2RA TNF
29
NF-kappa B signaling pathway 37
11.95 ICAM1 IL1B LTA TNF
30
Salmonella infection (KEGG) 37
11.89 CCL3 IFNG IL18 IL1B
31
Amoebiasis 37
11.88 IFNG IL1B TNF
32
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.77 IFNG IL2RA TNF
33
Dendritic Cells Developmental Lineage Pathway 65
11.76 IFNG IL1B TNF
34
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.76 ICAM1 IFNG IL1B MIF TNF
35
Lung fibrosis 1
11.74 CCL2 CCL3 IL1B TNF
36
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.67 IFNG IL2RA TNF
37
Legionellosis 37
11.62 IL18 IL1B TNF
38
MSP-RON Signaling 64
11.62 CCL2 IFNG IL18 IL1B TNF
39
Cellular Transformation by HTLV1 64
Show member pathways
 11.58 IFNG LTA TNF
40
Aryl Hydrocarbon Receptor Pathway 1
11.56 IFNG IL1B TNF
41
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.52 IFNG IL1B TNF
42
Rheumatoid arthritis 37
11.51 CCL2 CCL3 HLA-DRB1 ICAM1 IFNG IL18
43
Interleukin-10 signaling 66
11.49 CCL2 CCL3 ICAM1 IL18 IL1B TNF
44
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
11.48 IL18 IL1B NOD2
45
African trypanosomiasis 37
11.44 ICAM1 IFNG IL18 IL1B TNF
46
Type II interferon signaling (IFNG) 1
11.43 ICAM1 IFNG IL1B
47
Development and heterogeneity of the ILC family 1
11.42 IFNG IL18 IL1B TNF
48
Malaria 37
11.42 CCL2 ICAM1 IFNG IL18 IL1B TNF
49
Cytokines and Inflammatory Response 1
11.38 HLA-DRB1 IFNG IL1B TNF
50
IL12 signaling mediated by STAT4 1
11.35 HLA-DRB1 IFNG IL18 IL2RA
Sources

GO Terms for Sarcoidosis 1

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Cellular components related to Sarcoidosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.72 ACE CHIT1 HLA-DRB1 IL1B SLC11A1
2 cell surface GO:0009986 9.7 CXCR3 HLA-DRB1 ICAM1 IL2RA MIF NOD2
3 external side of plasma membrane GO:0009897 9.5 ACE BTNL2 CXCR3 HLA-DRB1 ICAM1 IL2RA
4 extracellular space GO:0005615 9.4 ACE CCL2 CCL3 CHIT1 ICAM1 IFNG
5 extracellular region GO:0005576 10 ACE CCL2 CCL3 CHIT1 IFNG IL18

Biological processes related to Sarcoidosis 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.99 CCL2 CCL3 IL18 IL1B IL2RA TNF
2 positive regulation of protein phosphorylation GO:0001934 9.97 IFNG IL1B MIF TNF
3 response to lipopolysaccharide GO:0032496 9.97 ICAM1 IL1B LTA SCGB1A1 SLC11A1
4 cytokine-mediated signaling pathway GO:0019221 9.97 CCL2 CCL3 ICAM1 IL12RB1 IL18 IL1B
5 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.94 ICAM1 IL1B NOD2 TNF
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.93 CCL2 CCL3 ICAM1 MIF NOD2 TNF
7 regulation of inflammatory response GO:0050727 9.9 NOD2 SCGB1A1 TNF
8 cellular response to interleukin-1 GO:0071347 9.89 CCL2 CCL3 ICAM1
9 chemokine-mediated signaling pathway GO:0070098 9.89 CCL2 CCL3 CXCR3
10 positive regulation of JNK cascade GO:0046330 9.89 IL1B NOD2 TNF
11 interferon-gamma-mediated signaling pathway GO:0060333 9.89 HLA-DRB1 ICAM1 IFNG
12 regulation of insulin secretion GO:0050796 9.88 IFNG IL1B TNF
13 cellular response to interferon-gamma GO:0071346 9.88 CCL2 CCL3 ICAM1 IL12RB1
14 neutrophil chemotaxis GO:0030593 9.87 CCL2 CCL3 IL1B
15 positive regulation of T cell proliferation GO:0042102 9.87 BTNL2 IL1B IL2RA
16 positive regulation of MAP kinase activity GO:0043406 9.87 MIF NOD2 TNF
17 positive regulation of interleukin-6 production GO:0032755 9.85 IL1B NOD2 TNF
18 interleukin-12-mediated signaling pathway GO:0035722 9.84 IFNG IL12RB1 MIF
19 humoral immune response GO:0006959 9.84 CCL2 IFNG LTA TNF
20 positive regulation of tumor necrosis factor production GO:0032760 9.83 CCL3 MIF NOD2
21 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.83 IL18 IL1B NOD2 TNF
22 negative regulation of T cell proliferation GO:0042130 9.81 HLA-DRB1 IL2RA SCGB1A1
23 positive regulation of phagocytosis GO:0050766 9.81 IL1B SLC11A1 TNF
24 response to bacterium GO:0009617 9.8 CCL2 CHIT1 SLC11A1
25 protein kinase B signaling GO:0043491 9.8 CCL2 CCL3 IL1B TNF
26 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.79 IL1B NOD2 TNF
27 positive regulation of interleukin-8 production GO:0032757 9.79 IL1B NOD2 TNF
28 positive regulation of activated T cell proliferation GO:0042104 9.78 IL12RB1 IL18 IL2RA
29 positive regulation of nitric oxide biosynthetic process GO:0045429 9.78 ICAM1 IFNG IL1B TNF
30 macrophage chemotaxis GO:0048246 9.73 CCL2 CCL3
31 positive regulation of interleukin-17 production GO:0032740 9.73 IL18 NOD2
32 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.73 IL1B TNF
33 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.73 IFNG IL1B TNF
34 cellular response to organic cyclic compound GO:0071407 9.73 CCL2 CCL3 IL18 IL1B NOD2 TNF
35 T cell chemotaxis GO:0010818 9.72 CCL3 CXCR3
36 T-helper 1 type immune response GO:0042088 9.72 HLA-DRB1 IL18
37 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.72 IL18 IL1B
38 inflammatory response to antigenic stimulus GO:0002437 9.72 HLA-DRB1 IL1B IL2RA
39 lipopolysaccharide-mediated signaling pathway GO:0031663 9.72 CCL2 CCL3 IL18 IL1B TNF
40 detection of bacterium GO:0016045 9.71 HLA-DRB1 NOD2
41 positive regulation of T-helper 1 type immune response GO:0002827 9.71 IL12RB1 SLC11A1
42 positive regulation of chemokine biosynthetic process GO:0045080 9.7 IL1B TNF
43 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.69 NOD2 SLC11A1
44 interleukin-6 production GO:0032635 9.68 IL18 IL1B
45 regulation of establishment of endothelial barrier GO:1903140 9.68 IL1B TNF
46 astrocyte cell migration GO:0043615 9.68 CCL2 CCL3
47 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.68 ICAM1 TNF
48 positive regulation of fever generation GO:0031622 9.66 IL1B TNF
49 positive regulation of chemokine (C-X-C motif) ligand 2 production GO:2000343 9.66 MIF TNF
50 positive regulation of humoral immune response mediated by circulating immunoglobulin GO:0002925 9.65 LTA TNF

Molecular functions related to Sarcoidosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.23 CCL2 CCL3 IFNG IL18 IL1B LTA
Sources

Sources for Sarcoidosis 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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