SS1
MCID: SRC025
MIFTS: 76

Sarcoidosis 1 (SS1)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Sarcoidosis 1

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:



Summaries for Sarcoidosis 1

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 skin sarcoidosis and melkersson-rosenthal syndrome, and has symptoms including snoring and coughing. 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. 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

Related Diseases for Sarcoidosis 1

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 811)
# Related Disease Score Top Affiliating Genes
1 skin sarcoidosis 34.1 TNFRSF1B TNF ACE
2 melkersson-rosenthal syndrome 32.6 TNFRSF1B TNF PTPRC NOD2 ACE
3 beryllium disease 32.6 HLA-DRB1 TNF
4 uveoparotid fever 32.4 ACE TNF
5 intermediate uveitis 32.4 TNF IL2RA IL2 IFNG
6 orofacial granulomatosis 32.1 TNF NOD2 IFNG BTNL2
7 uveitis 30.9 TNF NOD2 IL2RA IFNG
8 pulmonary fibrosis, idiopathic 30.6 IFNG IL13 IL18 SCGB1A1 TNF
9 chronic beryllium disease 30.5 HLA-DRB1 IFNG TNF
10 arthritis 30.4 TNFRSF1B TNF NOD2 LTA IL18 IFNG
11 silicosis 30.4 ACE SCGB1A1 TNF
12 pulmonary tuberculosis 30.4 TNF SLC11A1 IL2 IL18 IFNG HLA-DRB1
13 respiratory failure 30.3 ACE SCGB1A1 TNF
14 lymphopenia 30.3 IFNG IL2 IL2RA
15 common variable immunodeficiency 30.3 IFNG IL2 IL2RA TNF
16 panuveitis 30.2 HLA-DRB1 TNF TNFRSF1B
17 pleurisy 30.2 IFNG IL2 TNF
18 connective tissue disease 30.2 ACE HLA-DRB1 IFNG TNF
19 rheumatoid arthritis 30.2 TNFRSF1B TNF SLC11A1 IL2RA IL2 IL18
20 colitis 30.1 TNF NOD2 IL2 IFNG BTNL2
21 asthma 30.1 TNF SCGB1A1 IL2RA IL18 IL13 IFNG
22 spondylitis 30.1 TNFRSF1B TNF NOD2 LTA
23 spondyloarthropathy 1 30.1 NOD2 TNF TNFRSF1B
24 dermatitis 30.1 IFNG IL13 IL18 NOD2
25 lepromatous leprosy 30.1 IFNG IL2 TNF
26 ulcerative colitis 30.1 TNF NOD2 IL2 IFNG BTNL2
27 systemic lupus erythematosus 30.1 TNFRSF1B TNF LTA IL2RA IL2 IL18
28 granulomatous dermatitis 30.1 TNFRSF1B TNF NOD2 ACE
29 mycobacterium tuberculosis 1 30.0 TNFRSF1B TNF SLC11A1 IL18 IFNG
30 bronchiolitis 30.0 IFNG IL13 TNF
31 multiple sclerosis 30.0 TNF PTPRC LTA IL2RA IL2 IFNG
32 juvenile rheumatoid arthritis 30.0 TNFRSF1B TNF SLC11A1 LTA IL2RA IL18
33 bronchiolitis obliterans 30.0 IFNG SCGB1A1 TNF
34 paracoccidioidomycosis 30.0 IFNG IL2 TNF
35 crohn's colitis 30.0 TNF NOD2 IL2 IFNG
36 acquired immunodeficiency syndrome 30.0 TNF IL2RA IL2 IFNG
37 psoriasis 29.9 TNFRSF1B TNF LTA IL2 IL18 IL13
38 berylliosis 29.9 HLA-DRB1 IFNG IL2
39 mixed connective tissue disease 29.9 HLA-DRB1 IFNG TNF
40 conjunctivitis 29.9 IFNG IL13 IL2
41 diabetes mellitus 29.8 TNF LTA IL2RA IL2 IFNG HLA-DRB1
42 posterior uveitis 29.8 TNF IL2RA IL2 IFNG
43 human immunodeficiency virus infectious disease 29.8 IFNG IL2 TNF
44 lymphoma, non-hodgkin, familial 29.8 IL2 IL2RA PTPRC TNFRSF8 TNFSF8
45 leprosy 3 29.8 TNF SLC11A1 NOD2 IL2 IFNG HLA-DRB1
46 tonsillitis 29.8 TNF LTA IL2 IFNG
47 autoimmune disease 29.8 TNFRSF1B TNF SLC11A1 LTA IL2RA IL2
48 keratoconjunctivitis 29.8 TNF IL2 IL13 IFNG
49 lymphadenitis 29.7 NOD2 IL18 IFNG SLC11A1 TNF
50 pulmonary sarcoidosis 29.7 TNF IL2RA IL2 IL18 IFNG ACE

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



Diseases related to Sarcoidosis 1

Symptoms & Phenotypes for Sarcoidosis 1

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

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

Abdomen Spleen:
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 proximal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003701
35 abnormality of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0011024
36 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
37 bone cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0012062
38 abnormality of the adrenal glands 59 32 very rare (1%) Very rare (<4-1%) HP:0000834
39 bronchiectasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002110
40 uveitis 59 32 frequent (33%) Frequent (79-30%) HP:0000554
41 eosinophilia 59 32 very rare (1%) Very rare (<4-1%) HP:0001880
42 pneumothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0002107
43 upper airway obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002781
44 leukopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001882
45 ventricular tachycardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004756
46 chylothorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0010310
47 tubulointerstitial nephritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001970
48 erythema nodosum 59 32 frequent (33%) Frequent (79-30%) HP:0012219
49 abnormality of the nasal mucosa 59 32 occasional (7.5%) Occasional (29-5%) HP:0000433
50 dacryocystitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000620

UMLS symptoms related to Sarcoidosis 1:


snoring, coughing

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 9.88 ACE IL18 IL2 IL2RA LTA NOD2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.88 ACE IL18 IL2 IL2RA LTA NOD2

MGI Mouse Phenotypes related to Sarcoidosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.22 ACE IFNG IL13 IL18 IL2 IL2RA
2 immune system MP:0005387 10.22 ACE CHIT1 IFNG IL13 IL18 IL2
3 growth/size/body region MP:0005378 10.21 ACE IFNG IL13 IL18 IL2 IL2RA
4 endocrine/exocrine gland MP:0005379 10.2 ACE IFNG IL13 IL2 IL2RA LTA
5 digestive/alimentary MP:0005381 10.18 IFNG IL13 IL18 IL2 IL2RA NOD2
6 homeostasis/metabolism MP:0005376 10.15 ACE IFNG IL13 IL18 IL2 IL2RA
7 mortality/aging MP:0010768 9.97 ACE IFNG IL13 IL18 IL2 IL2RA
8 liver/biliary system MP:0005370 9.8 ACE IFNG IL2 LTA PTPRC TNF
9 neoplasm MP:0002006 9.56 ACE IFNG IL2 PTPRC SCGB1A1 SLC11A1
10 respiratory system MP:0005388 9.28 IFNG IL13 IL2 IL2RA LTA PTPRC

Drugs & Therapeutics for Sarcoidosis 1

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.

Search Clinical Trials , NIH Clinical Center for Sarcoidosis 1

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


Cochrane evidence based reviews: sarcoidosis

Genetic Tests for Sarcoidosis 1

Anatomical Context for Sarcoidosis 1

MalaCards organs/tissues related to Sarcoidosis 1:

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

Publications for Sarcoidosis 1

Articles related to Sarcoidosis 1:

(show top 50) (show all 781)
# Title Authors Year
1
Coexistent sarcoidosis and lymphangioleiomyomatosis in a patient with cystic lung disease. ( 30519468 )
2019
2
Long-lasting cutaneous tuberculosis owing to Mycobacterium bovis masquerading as sarcoidosis. ( 30533472 )
2019
3
Pulmonary Multiloculated 'Lotus Torus-like' Sarcoidosis Mimicking Lung Adenocarcinoma. ( 30210126 )
2018
4
Scalp Sarcoidosis Presenting as Cicatricial Alopecia. ( 30476994 )
2018
5
Symptomatic hypercalcemia and scarring alopecia as presenting features of sarcoidosis. ( 29706828 )
2018
6
Three Cases of Scalp Sarcoidosis with Alopecia. ( 29857946 )
2018
7
Cardiac Sarcoidosis Concomitant with Large-vessel Aortitis Detected by 18F-fluorodeoxyglucose Positron Emission Tomography. ( 29321427 )
2018
8
Chronic arthritis revealing sarcoidosis in a patient exposed to silica. ( 30324997 )
2018
9
Emergency management of life-threatening haemoptysis due to invasive pulmonary aspergillosis in a sarcoidosis patient. ( 27796076 )
2018
10
Cardiac Sarcoidosis Presenting as Complete Atrioventricular Block: Findings on PET/MRI. ( 30238713 )
2018
11
Outcome of Cardiac Sarcoidosis Presenting With High-Grade Atrioventricular Block. ( 30354309 )
2018
12
Cardiac Sarcoidosis Mimicking Septal Tumor with Intermittent Complete Atrioventricular Block. ( 30369580 )
2018
13
Sarcoidosis in the renal allograft of a recipient whose primary disease was autosomal dominant polycystic kidney disease. ( 30328079 )
2018
14
Sarcoidosis Discovered During Mohs Surgery for Basal Cell Carcinoma. ( 28498211 )
2018
15
Usefulness of Total 12-Lead QRS Voltage as a Clue to Diagnosis of Patients With Cardiac Sarcoidosis Severe Enough to Warrant Orthotopic Heart Transplant. ( 29141071 )
2018
16
Cardiac Sarcoidosis Presenting as Acute Progressive Heart Failure with Abdominal Lymphadenopathy. ( 29151508 )
2018
17
Pathology after a combination of sequential and simultaneous unipolar radiofrequency ablation of ventricular tachycardia in a postmortem heart with cardiac sarcoidosis. ( 29988673 )
2018
18
Serial observation of electrocardiographic responses to corticosteroid therapy in a patient with right ventricular-predominant cardiac sarcoidosis. ( 29997007 )
2018
19
Cardiac MRI for Detection of Cardiac Sarcoidosis. ( 30015582 )
2018
20
Diagnostic Value of Cardiac Magnetic Resonance Strain Analysis for Detection of Cardiac Sarcoidosis. ( 30045396 )
2018
21
Heart Transplantation for End-Stage Cardiac Sarcoidosis: Increasingly Used With Excellent Results. ( 30049363 )
2018
22
Invasive Hemodynamics and Rejection Rates in Patients With Cardiac Sarcoidosis After Heart Transplantation. ( 30049365 )
2018
23
Role of PET/CT in multimodality imaging in differentiating cardiac sarcoidosis from arrhythmogenic right ventricular dysplasia. ( 30051347 )
2018
24
Monitoring cardiac sarcoidosis: The next frontier. ( 30064896 )
2018
25
Updates on the Role of Imaging in Cardiac Sarcoidosis. ( 30084045 )
2018
26
Variances of dietary preparation for suppression of physiological 18F-FDG myocardial uptake in the presence of cardiac sarcoidosis: A systematic review. ( 30088196 )
2018
27
Characterization of the Electroanatomic Substrate in Cardiac Sarcoidosis: Correlation With Imaging Findings of Scar and Inflammation. ( 30089553 )
2018
28
Assembling the Pieces of the Puzzle: Inflammation, Scar, and Electrograms in Cardiac Sarcoidosis. ( 30089554 )
2018
29
Cardiac sarcoidosis - an expert review for the chest physician. ( 30099918 )
2018
30
A Multiple Biomarker Approach in Patients with Cardiac Sarcoidosis. ( 30101857 )
2018
31
Viewpoints in the diagnosis and treatment of cardiac sarcoidosis: Proposed modification of current guidelines. ( 30144116 )
2018
32
Diagnostic value of cardiac magnetic resonance and fluorodeoxyglucose-positron emission tomography for cardiac sarcoidosis with previous myocardial infarction: A case report. ( 30170386 )
2018
33
Clinics in diagnostic imaging (189). Acute phase cardiac sarcoidosis (CS). ( 30175371 )
2018
34
MicroRNAs as biomarkers for cardiac sarcoidosis: No matter how small. ( 30177304 )
2018
35
Importance of extracardiac FDG uptake to diagnose cardiac sarcoidosis. ( 30187240 )
2018
36
Cardiac sarcoidosis and ventricular arrhythmias. A rare association of a rare disease. A retrospective cohort study from the National Inpatient Sample and current evidence for management. ( 30234899 )
2018
37
Cardiac sarcoidosis: Diagnosis confirmation by bronchoalveolar lavage and lung biopsy. ( 30249376 )
2018
38
Which is the proper reference tissue for measuring the change in FDG PET metabolic volume of cardiac sarcoidosis before and after steroid therapy? ( 30291527 )
2018
39
Cutaneous phaeohyphomycosis caused by Microsphaeropsis arundinis in a Japanese patient with cardiac sarcoidosis. ( 30320462 )
2018
40
Japanese Antibacterial Drug Management for Cardiac Sarcoidosis (J-ACNES): A multicenter, open-label, randomized, controlled study. ( 30327697 )
2018
41
Use of 18F-FDG PET/CT texture analysis to diagnose cardiac sarcoidosis. ( 30327855 )
2018
42
Which Patients With Cardiac Sarcoidosis Should Receive Implantable Cardioverter-Defibrillators. ( 30354325 )
2018
43
Ventricular Arrhythmias in Cardiac Sarcoidosis. ( 30354431 )
2018
44
Cardiac Sarcoidosis: Case Presentation and Review of the Literature. ( 30375351 )
2018
45
Cardiac sarcoidosis with complete metabolic response and resolution of left ventricular dysfunction complicated by subsequent VT storm. ( 30377998 )
2018
46
Management and outcomes of cardiac sarcoidosis: a 20-year experience in two tertiary care centres. ( 30378224 )
2018
47
Circumferential extent of thinning of the basal muscular ventricular septum in a case of cardiac sarcoidosis. ( 30387201 )
2018
48
Advanced cardiovascular imaging for the evaluation of cardiac sarcoidosis. ( 30390241 )
2018
49
A 30-day drastic thinning of the basal interventricular septum in isolated cardiac sarcoidosis masquerading as a hypertrophic cardiomyopathy. ( 30403780 )
2018
50
The prognostic value of quantitating and localizing F-18 FDG uptake in cardiac sarcoidosis. ( 30421379 )
2018

Variations for Sarcoidosis 1

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

Expression for Sarcoidosis 1

Search GEO for disease gene expression data for Sarcoidosis 1.

Pathways for Sarcoidosis 1

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

(show top 50) (show all 56)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 BTNL2 CHIT1 HLA-DRB1 IFNG IL13 IL18
2
Show member pathways
13.71 IFNG IL13 IL18 IL2 IL2RA LTA
3
Show member pathways
13.55 IFNG IL13 IL18 IL2 IL2RA LTA
4
Show member pathways
13.45 IL13 IL18 IL2 IL2RA LTA TNF
5
Show member pathways
13.27 IL13 IL18 IL2 IL2RA LTA PTPRC
6
Show member pathways
13.14 HLA-DRB1 IFNG IL13 IL18 IL2 IL2RA
7
Show member pathways
13.03 ACE IFNG IL18 IL2 NOD2 TNF
8
Show member pathways
12.78 IL2 IL2RA LTA TNF TNFRSF1B
9
Show member pathways
12.75 HLA-DRB1 IFNG IL13 IL18 IL2 IL2RA
10
Show member pathways
12.63 LTA TNF TNFRSF1B TNFRSF8 TNFSF8
11
Show member pathways
12.59 HLA-DRB1 IFNG IL18 IL2 IL2RA PTPRC
12
Show member pathways
12.59 HLA-DRB1 IFNG IL13 IL18 IL2 IL2RA
13 12.55 IFNG IL2 IL2RA PTPRC TNF TNFRSF1B
14
Show member pathways
12.51 HLA-DRB1 IFNG IL13 IL18 IL2 IL2RA
15 12.46 HLA-DRB1 IL2 IL2RA LTA TNF
16
Show member pathways
12.44 IFNG IL13 IL2 IL2RA PTPRC
17
Show member pathways
12.43 IFNG IL2 PTPRC TNF
18
Show member pathways
12.39 HLA-DRB1 IL2 IL2RA PTPRC
19 12.28 HLA-DRB1 IFNG IL18 NOD2 TNF
20
Show member pathways
12.28 IFNG IL13 IL18 IL2 IL2RA LTA
21
Show member pathways
12.12 IFNG IL13 IL18 IL2 IL2RA TNFRSF1B
22
Show member pathways
12.11 IFNG IL18 IL2 LTA TNF
23 12.05 IFNG IL2 IL2RA PTPRC TNF
24 12.03 IL13 IL18 TNF TNFRSF1B
25
Show member pathways
12.03 HLA-DRB1 IFNG IL18 IL2 IL2RA
26 12 LTA NOD2 TNF TNFRSF1B
27 11.92 IFNG IL2 IL2RA PTPRC
28 11.91 HLA-DRB1 IFNG IL18 TNF
29 11.88 HLA-DRB1 IL2RA TNF
30
Show member pathways
11.83 IFNG IL2 IL2RA TNF
31 11.81 IFNG IL13 IL2
32 11.81 IFNG IL2 PTPRC TNF
33
Show member pathways
11.8 TNF TNFRSF1B TNFRSF8 TNFSF8
34 11.73 IFNG IL13 IL18 IL2 TNF
35
Show member pathways
11.71 IL2 IL2RA LTA
36
Show member pathways
11.71 IFNG IL2 IL2RA TNF
37
Show member pathways
11.68 IFNG IL2 TNF
38 11.64 BTNL2 TNFRSF8 TNFSF8
39
Show member pathways
11.62 IFNG LTA TNF TNFRSF1B
40 11.6 LTA TNF TNFRSF1B
41 11.6 IL13 IL18 TNF TNFRSF1B
42 11.58 IFNG IL2 TNF
43 11.57 IFNG IL13 IL2 IL2RA
44 11.56 IFNG IL18 TNF
45 11.54 IFNG IL2 TNF
46 11.54 IFNG IL18 TNF
47 11.4 IFNG IL18 TNF
48 11.4 IFNG IL2 IL2RA TNFRSF1B
49 11.37 IFNG IL13 IL18 TNF
50 11.34 LTA TNFRSF1B TNFRSF8 TNFSF8

GO Terms for Sarcoidosis 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.9 ACE CHIT1 CHRDL1 IFNG IL13 IL18
2 extracellular space GO:0005615 9.65 ACE CHIT1 IFNG IL13 IL18 IL2
3 external side of plasma membrane GO:0009897 9.17 ACE BTNL2 HLA-DRB1 IL13 IL2RA PTPRC

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.99 IFNG IL2RA PTPRC TNFRSF1B
2 cell-cell signaling GO:0007267 9.97 IL18 IL2 LTA TNFSF8
3 MAPK cascade GO:0000165 9.97 IL18 IL2 IL2RA TNF
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.9 IL18 NOD2 TNF TNFRSF8
5 defense response to Gram-positive bacterium GO:0050830 9.87 LTA TNF TNFSF8
6 regulation of signaling receptor activity GO:0010469 9.87 IFNG IL13 IL18 IL2 LTA TNF
7 positive regulation of inflammatory response GO:0050729 9.85 IL18 IL2 TNF
8 response to lipopolysaccharide GO:0032496 9.85 IL13 LTA SCGB1A1 SLC11A1 TNFRSF1B
9 cytokine-mediated signaling pathway GO:0019221 9.85 IL13 IL18 IL2 IL2RA TNF TNFRSF1B
10 cellular response to organic cyclic compound GO:0071407 9.83 IL18 NOD2 TNF
11 regulation of inflammatory response GO:0050727 9.83 NOD2 SCGB1A1 TNF
12 humoral immune response GO:0006959 9.82 IFNG LTA TNF
13 positive regulation of smooth muscle cell proliferation GO:0048661 9.81 IL13 IL18 TNF
14 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.79 IL18 NOD2 TNF
15 extrinsic apoptotic signaling pathway GO:0097191 9.78 IFNG TNF TNFRSF1B
16 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.78 IFNG IL13 IL18 IL2
17 negative regulation of T cell proliferation GO:0042130 9.77 HLA-DRB1 IL2RA SCGB1A1
18 positive regulation of B cell proliferation GO:0030890 9.76 IL13 IL2 PTPRC
19 positive regulation of activated T cell proliferation GO:0042104 9.73 IL18 IL2 IL2RA
20 positive regulation of T cell proliferation GO:0042102 9.73 BTNL2 IL2 IL2RA PTPRC
21 positive regulation of T cell differentiation GO:0045582 9.7 IL2 IL2RA PTPRC
22 negative regulation of growth of symbiont in host GO:0044130 9.69 LTA TNF
23 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.69 IFNG TNF TNFRSF1B
24 inflammatory response to antigenic stimulus GO:0002437 9.68 HLA-DRB1 IL2RA
25 interleukin-2-mediated signaling pathway GO:0038110 9.68 IL2 IL2RA
26 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 IL2 PTPRC
27 T-helper 1 type immune response GO:0042088 9.67 HLA-DRB1 IL18
28 regulation of regulatory T cell differentiation GO:0045589 9.67 IFNG IL2 IL2RA
29 detection of bacterium GO:0016045 9.66 HLA-DRB1 NOD2
30 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.65 NOD2 SLC11A1
31 negative regulation of lymphocyte proliferation GO:0050672 9.63 IL2 IL2RA
32 positive regulation of neuroinflammatory response GO:0150078 9.63 IL18 TNF
33 positive regulation of tissue remodeling GO:0034105 9.62 IL18 IL2
34 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.58 IFNG TNF
35 positive regulation of interleukin-17 production GO:0032740 9.58 IL18 IL2 NOD2
36 regulation of T cell homeostatic proliferation GO:0046013 9.57 IL2 IL2RA
37 positive regulation of chronic inflammatory response to antigenic stimulus GO:0002876 9.55 LTA TNF
38 tumor necrosis factor-mediated signaling pathway GO:0033209 9.55 LTA TNF TNFRSF1B TNFRSF8 TNFSF8
39 positive regulation of vitamin D biosynthetic process GO:0060557 9.54 IFNG TNF
40 positive regulation of humoral immune response mediated by circulating immunoglobulin GO:0002925 9.43 LTA PTPRC TNF
41 immune response GO:0006955 9.4 CHIT1 HLA-DRB1 IFNG IL13 IL18 IL2
42 positive regulation of interferon-gamma production GO:0032729 9.35 IL18 IL2 LTA SLC11A1 TNF
43 positive regulation of gene expression GO:0010628 10.05 IFNG IL13 IL18 SLC11A1 TNF
44 inflammatory response GO:0006954 10.01 IL13 IL18 SLC11A1 TNF TNFRSF1B

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.17 IFNG IL13 IL18 IL2 LTA TNF
2 tumor necrosis factor receptor binding GO:0005164 9.13 LTA TNF TNFSF8

Sources for Sarcoidosis 1

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