Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
SS2
MCID: SRC023
MIFTS: 50

Sarcoidosis 2 (SS2)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Sarcoidosis 2

About this section

MalaCards integrated aliases for Sarcoidosis 2:

Name: Sarcoidosis 2 57 73
Sarcoidosis, Susceptibility to, 2 57 28 12 5
Sarcoidosis 73 71
Ss2 57 73
Besnier-Boeck-Schaumann Disease 73
Boeck Sarcoid 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable features may be present


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)


Sources

Summaries for Sarcoidosis 2

About this section

UniProtKB/Swiss-Prot: 73 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.

MalaCards based summary: Sarcoidosis 2, also known as sarcoidosis, susceptibility to, 2, is related to blau syndrome and neurosarcoidosis, and has symptoms including snoring and coughing. An important gene associated with Sarcoidosis 2 is BTNL2 (Butyrophilin Like 2). The drugs Azathioprine and Pirfenidone have been mentioned in the context of this disorder. Affiliated tissues include lung, spleen and lymph node, and related phenotypes are bronchiectasis and pleural effusion

More information from OMIM: 612387
Sources

Related Diseases for Sarcoidosis 2

About this section

Diseases in the Sarcoidosis 1 family:

Sarcoidosis 2 Sarcoidosis 3

Diseases related to Sarcoidosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1666)
# Related Disease Score Top Affiliating Genes
1 blau syndrome 11.6
2 neurosarcoidosis 11.6
3 skin sarcoidosis 11.5
4 sarcoidosis 3 11.2
5 melkersson-rosenthal syndrome 11.1
6 pars planitis 11.1
7 hypercalcemic sarcoidosis 11.1
8 interstitial lung disease 11.1
9 rickets 11.0
10 progressive multifocal leukoencephalopathy 11.0
11 uveoparotid fever 11.0
12 intermediate uveitis 11.0
13 retinal vasculitis 11.0
14 sarcoid meningitis 10.9
15 mononeuritis multiplex 10.9
16 granulomatous mastitis 10.9
17 uveitis 10.9
18 primary cutaneous amyloidosis 10.9
19 orofacial granulomatosis 10.9
20 myeloproliferative/lymphoproliferative neoplasms, familial 10.9
21 granulomatous lobular mastitis 10.9
22 idiopathic hypertrophic pachymeningitis 10.9
23 secondary intestinal lymphangiectasia 10.9
24 extrinsic allergic alveolitis 10.8
25 pulmonary fibrosis 10.8
26 lung disease 10.8
27 lymphatic system disease 10.7
28 interstitial lung disease 2 10.7
29 atrioventricular block 10.7
30 pulmonary hypertension 10.6
31 anterior uveitis 10.6
32 splenomegaly 10.6
33 myocarditis 10.6
34 cardiac conduction defect 10.6
35 sjogren syndrome 10.5
36 interstitial nephritis 10.5
37 third-degree atrioventricular block 10.5
38 autoimmune disease 10.5
39 respiratory failure 10.5
40 anterior cutaneous nerve entrapment syndrome 10.5
41 pulmonary tuberculosis 10.5
42 myopathy 10.5
43 hepatitis c 10.5
44 kidney disease 10.5
45 portal hypertension 10.5
46 nephrolithiasis, calcium oxalate 10.5
47 panuveitis 10.5
48 primary biliary cholangitis 10.5
49 lymphoma, hodgkin, classic 10.5
50 glomerulonephritis 10.5

Comorbidity relations with Sarcoidosis 2 via Phenotypic Disease Network (PDN):


Heart Disease Postinflammatory Pulmonary Fibrosis

Graphical network of the top 20 diseases related to Sarcoidosis 2:



Diseases related to Sarcoidosis 2
Sources

Symptoms & Phenotypes for Sarcoidosis 2

About this section

Human phenotypes related to Sarcoidosis 2:

30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bronchiectasis 30 Occasional (7.5%) HP:0002110
2 pleural effusion 30 Very rare (1%) HP:0002202
3 facial palsy 30 HP:0010628
4 splenomegaly 30 HP:0001744
5 hepatomegaly 30 HP:0002240
6 hemoptysis 30 HP:0002105
7 pneumothorax 30 HP:0002107
8 dyspnea 30 HP:0002094
9 emphysema 30 HP:0002097
10 uveitis 30 HP:0000554
11 chest pain 30 HP:0100749
12 mediastinal lymphadenopathy 30 HP:0100721
13 pulmonary arterial hypertension 30 HP:0002092
14 hypoxemia 30 HP:0012418
15 pulmonary fibrosis 30 HP:0002206
16 restrictive ventilatory defect 30 HP:0002091
17 pulmonary infiltrates 30 HP:0002113
18 erythema nodosum 30 HP:0012219
19 clubbing 30 HP:0001217
20 abnormal pulmonary interstitial morphology 30 HP:0006530
21 elevated bronchoalveolar lavage fluid lymphocyte proportion 30 HP:0032976

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Spleen:
splenomegaly

Respiratory:
dyspnea

Skin Nails Hair Skin:
erythema nodosum

Hematology:
bone marrow involvement may cause pancytopenia

Neurologic Central Nervous System:
neurosarcoidosis
bell's palsy

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
uveitis

Respiratory Lung:
interstitial lung disease
bilateral hilar adenopathy
lung fibrosis
hilar enlargement

Head And Neck Mouth:
enlarged parotid glands

Laboratory Abnormalities:
noncaseating granulomas on biopsy
abnormalities of calcium metabolism

Clinical features from OMIM®:

612387 (Updated 08-Dec-2022)

UMLS symptoms related to Sarcoidosis 2:


snoring; coughing
Sources

Drugs & Therapeutics for Sarcoidosis 2

About this section

Drugs for Sarcoidosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 199)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved Phase 4 446-86-6 2265
2
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
3
Riociguat Approved Phase 4 625115-55-1 11304743
4
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
5
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
6
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959 6435378 5311181
7
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
8
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
9
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
10
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
11
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
12
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
13
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
14
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
15
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
16
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
17
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
18
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
19
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
20
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
21
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
22
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
23
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
24 Analgesics Phase 4
25 Anti-Inflammatory Agents, Non-Steroidal Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Neurotransmitter Agents Phase 4
28 Central Nervous System Stimulants Phase 4
29 Dopamine Uptake Inhibitors Phase 4
30 Dopamine Agents Phase 4
31 Vasodilator Agents Phase 4
32 Platelet Aggregation Inhibitors Phase 4
33 Anesthetics Phase 4
34
Dexmethylphenidate Hydrochloride Phase 4
35 Anesthetics, Intravenous Phase 4
36 Anesthetics, General Phase 4
37 Hypnotics and Sedatives Phase 4
38 Calcium, Dietary Phase 4
39 Vitamins Phase 4
40
Vitamin D2 Phase 4 3249
41 Trace Elements Phase 4
42 Calciferol Phase 4
43 Ergocalciferols Phase 4
44 Micronutrients Phase 4
45 Citrate Phase 4
46 Antirheumatic Agents Phase 4
47 Immunosuppressive Agents Phase 4
48 Immunologic Factors Phase 4
49 Folic Acid Antagonists Phase 4
50 Folate Phase 4

Interventional clinical trials:

(show top 50) (show all 247)
# Name Status NCT ID Phase Drugs
1 ACTHAR Gel for Chronic Pulmonary Sarcoidosis (ACPS) Unknown status NCT02188017 Phase 4 Acthar gel
2 Pirfenidone for Progressive Fibrotic Sarcoidosis Unknown status NCT03260556 Phase 4 Pirfenidone;Placebos
3 A Double Blind, Placebo Controlled Trial of Oral Riociguat for Sarcoidosis Associated Pulmonary Hypertension Unknown status NCT02625558 Phase 4 Riociguat;Placebo
4 Use of Roflumilast to Prevent Exacerbations in Fibrotic Sarcoidosis Patients (REFS) Unknown status NCT01830959 Phase 4 Roflumilast;Placebo
5 A Phase 4, Multicenter, Randomized, Double Blind, Placebo Controlled Pilot Study to Assess the Efficacy and Safety of Acthar Gel in Subjects With Pulmonary Sarcoidosis Completed NCT03320070 Phase 4 Acthar Gel;Placebo
6 Inhaled Iloprost for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
7 Clinical Biomarkers of Disease Activity and Treatment Responses in Patients With CNS Sarcoidosis Treated With H.P. Acthar Gel Completed NCT02298491 Phase 4 H.P. Acthar Gel
8 d68Ga-DOTATATE PET/CT Assessment of Cardiac Sarcoidosis Completed NCT03549598 Phase 4 68Ga-DOTATATE PET/CT;18FDG PET/CT scan;13NH3 PET/CT scan
9 Randomized, Double-Blind, Placebo-Controlled Study of Dexmethylphenidate Hydrochloride, (d-MPH) in the Treatment of Fatigue in Sarcoidosis Subjects. Completed NCT00361387 Phase 4 d-methylphenidate
10 Target-controlled Versus Manually-controlled Propofol Sedation in Flexible Bronchoscopy. A Randomized Non-inferiority Trial. Completed NCT02246023 Phase 4
11 Conventional Versus Ultrasound-guided Transbronchial Needle Aspiration, Using Rapid On-site Cytological Evaluation, for the Diagnosis of Hilar/Mediastinal Enlarged Lymph Nodes: a Randomized Controlled Trial. Completed NCT01658280 Phase 4
12 The PREDMETH Trial: Effectiveness of Methotrexate Versus Prednisolone as First-line Therapy for Pulmonary Sarcoidosis - A Randomized Controlled Trial Recruiting NCT04314193 Phase 4 Methotrexate;Prednisolone
13 Efficacy and Safety of Two Glucocorticoid Regimens in the Treatment of Sarcoidosis: a Randomized Controlled Trial Recruiting NCT03265405 Phase 4 Low dose prednisolone;Medium dose prednisolone
14 Vitamin D Homeostasis in Sarcoidosis Active, not recruiting NCT03621553 Phase 4 Ergocalciferol;Placebo;Calcium Citrate with Vitamin D2
15 Use of CXCL9 as a Biomarker of Acthar Efficacy Not yet recruiting NCT02523092 Phase 4 Acthar gel
16 Assessment of the Safety, Side Effects and Efficacy of Interventional Cryotherapy for the Eradication of Benign Airway Disease("ICE THE BAD") Terminated NCT00747461 Phase 4
17 Corticosteroid Sparing Effect of Methotrexate in Patients With Sarcoid- Associated Uveitis: A Double Blind, Randomized, Placebo Controlled-study -UVEXATE Terminated NCT00918554 Phase 4 Methotrexate;Placebo
18 CArdiac Sarcoidosis Response TO steRoids (CASTOR) Trial Withdrawn NCT01210677 Phase 4 Prednisone
19 ACTHAR Therapy for Central Nervous System Sarcoidosis Withdrawn NCT02920710 Phase 4 Repository Corticotropin Injection
20 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.
21 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
22 Imaging of Active Granulomas With [18F]FDG and Selected Inflammatory PET Tracers in Pulmonary Sarcoidosis Unknown status NCT02824419 Phase 2, Phase 3 Methionine;DOTANOC
23 Low-dose Dexamethasone in Newly Diagnosed Pulmonary Sarcoidosis Unknown status NCT01920919 Phase 3 Dexamethasone;Placebo
24 The Efficacy and Safety of CC-10004 in Chronic Cutaneous Sarcoidosis Completed NCT00794274 Phase 2, Phase 3 CC-100004
25 Hydroxychloroquine as Steroid-Sparing Agent in Pulmonary Sarcoidosis (HySSAS). A Multicenter, Prospective, Controlled, Randomized Trial. Completed NCT02200146 Phase 3 Prednisone;Hydroxychloroquine + Prednisone
26 Efficacy of Remission-induction Regimen With Infliximab for Severe Extrathoracic Sarcoidosis (EFIRTES STUDY) Completed NCT03704610 Phase 3 Infliximab;Placebo
27 Use of Armodafinil (R-modafinil) for Fatigue in Sarcoidosis Completed NCT00555347 Phase 2, Phase 3 Armodafinil;Placebo
28 Ambrisentan (Letairis) for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00851929 Phase 2, Phase 3 Ambrisentan
29 Determination of the Efficacy and Safety of the Seasonal Influenza Vaccine Among Patients Suffering From Sarcoidosis. Completed NCT01687517 Phase 3 Seasonal influenza vaccine available for the 2012-2013 vaccine campaign
30 Double Blind, Randomized Trial of Bosentan for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00581607 Phase 2, Phase 3 Bosentan;Placebo
31 A Multicenter, Randomized, Double-blind, Placebo-controlled Trial Evaluating the Safety and Efficacy of Infliximab (Remicade�) in Subjects With Chronic Sarcoidosis With Pulmonary Involvement. Completed NCT00073437 Phase 3 Infliximab
32 Endosonography (EUS and EBUS) vs Conventional Bronchoscopy for the Diagnosis of Sarcoidosis: a Randomized Trial Completed NCT00872612 Phase 3
33 Randomized Controlled Trial of Thalidomide vs Placebo in Skin Sarcoidosis Completed NCT00305552 Phase 3 THALIDOMIDE
34 Tadalafil for Sarcoidosis Associated Pulmonary Hypertension Completed NCT01324999 Phase 2, Phase 3 Tadalafil
35 A Study Evaluating the Effect of the Number of Needle Revolutions Inside the Node on the Diagnostic Yield of EBUS-TBNA in Sarcoidosis Completed NCT02875756 Phase 2, Phase 3
36 "A RCT ON CLINICAL EFFICACY OF 1% vs. 2% LIGNOCAINE IN COUGH SUPPRESSION AND PAIN RELIEF IN PATIENTS UNDERGOING FLEXIBLE BRONCHOSCOPY" Completed NCT01955824 Phase 2, Phase 3 1% lignocaine;2% lignocaine
37 Cardiac Sarcoidosis Multi-Center Randomized Controlled Trial Recruiting NCT03593759 Phase 3 Prednisone or Prednisolone;Methotrexate
38 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Intravenous Efzofitimod in Patients With Pulmonary Sarcoidosis Recruiting NCT05415137 Phase 3 Efzofitimod 3 mg/kg;Efzofitimod 5 mg/kg;Placebo
39 Randomized Controlled Trial Testing the Effect of Hydroxychloroquine Combined With Low-dose Corticosteroid Therapy in Pulmonary Sarcoidosis Not yet recruiting NCT05247554 Phase 3 Hydroxychloroquine + low-dose prednisone;Prednisone
40 Mycophenolate for Pulmonary Sarcoidosis Terminated NCT00262132 Phase 3 Mycophenolate
41 Investigation of the Efficacy of Antimycobacterial Therapy on Pulmonary Sarcoidosis Phase II Randomized, Double-blind, Placebo-controlled Trial Completed NCT02024555 Phase 2 Levofloxacin;Ethambutol;Azithromycin;Rifampin;Placebo
42 A Dose Escalation Study to Assess the Safety and Efficacy of Pulsed, Inhaled Nitric Oxide in Subjects With Pulmonary Hypertension Associated With Pulmonary Fibrosis or Sarcoidosis on Long Term Oxygen Therapy Followed by an Optional Open-Label Long Term Extension Safety Study Completed NCT03727451 Phase 2
43 Nicotine Treatment for Pulmonary Sarcoidosis: A Clinical Trial Pilot Study Completed NCT02265874 Phase 1, Phase 2 Habitrol;Placebo to Habitrol
44 A Randomized, Double-Blind, Placebo-Controlled Multiple Ascending Dose Study of Intravenous ATYR1923 in Patients With Pulmonary Sarcoidosis Completed NCT03824392 Phase 1, Phase 2
45 A Single Arm, Open-label Exploratory Clinical Trial of Azithromycin in Pulmonary Sarcoidosis Completed NCT04020380 Phase 2 Azithromycin 250Mg Capsule
46 Atorvastatin as a Disease Modifying Agent in Stage II and III Pulmonary Sarcoidosis: A Randomized, Double-Blind, Placebo-Controlled Trial Completed NCT00279708 Phase 2 Atorvastatin
47 Treatment of Pulmonary Sarcoidosis With Pentoxifylline Completed NCT00001877 Phase 2 Pentoxifylline
48 A Multiple-dose, Subject and Investigator Blinded, Placebo-controlled, Parallel Design Study to Assess the Efficacy, Safety and Tolerability of ACZ885(Canakinumab) in Patients With Pulmonary Sarcoidosis Completed NCT02888080 Phase 2 ACZ885;Placebo
49 Rituximab as a Novel Therapy in Refractory Sarcoidosis: A Prospective Open- Completed NCT00855205 Phase 2 Rituximab
50 A Double Blind, Placebo Controlled Phase 2 Dose Ranging Study of the Effects of ARA 290 on Corneal Nerve Fiber Density and Neuropathic Symptoms of Subjects With Sarcoidosis Completed NCT02039687 Phase 2 ARA 290

Search NIH Clinical Center for Sarcoidosis 2

Sources

Genetic Tests for Sarcoidosis 2

About this section

Genetic tests related to Sarcoidosis 2:

# Genetic test Affiliating Genes
1 Sarcoidosis, Susceptibility to, 2 28 BTNL2
Sources

Anatomical Context for Sarcoidosis 2

About this section

Organs/tissues related to Sarcoidosis 2:

MalaCards : Lung, Spleen, Lymph Node, Liver, Skin, Bone Marrow, Heart
Sources

Publications for Sarcoidosis 2

About this section

Articles related to Sarcoidosis 2:

(show top 50) (show all 26559)
# Title Authors PMID Year
1
Sarcoidosis is associated with a truncating splice site mutation in BTNL2. 62 57 5
15735647 2005
2
The BTNL2 gene and sarcoidosis susceptibility in African Americans and Whites. 62 57
16080124 2005
3
Clinical characteristics of patients in a case control study of sarcoidosis. 62 57
11734441 2001
4
African-American HLA class II allele and haplotype diversity. 57
9174158 1997
5
Myocardial Involvement in Systemic Autoimmune Rheumatic Diseases. 62
36424026 2023
6
Hybrid PET/MRI in Infection and Inflammation: An Update About the Latest Available Literature Evidence. 62
36369091 2023
7
Hypersensitivity Reactions and the Respiratory System: Imaging Based Review. 62
35610069 2023
8
Sarcoid Heart Disease: Review of Current Knowledge. 62
34132655 2023
9
Synchronous hepatocellular carcinoma and renal cell carcinoma in young woman with sarcoidosis: A case report. 62
36411849 2023
10
Sarcoidosis, granulomas and myopathy syndromes: A clinical-pathology review. 62
36228383 2022
11
Atypical Muscular Sarcoidosis Involvement Revealed by 18 F-FDG PET/CT. 62
36398302 2022
12
Sarcoidosis and obsessive-compulsive symptoms. 62
36308776 2022
13
Pulmonary sarcoidosis with a cavitary lesion in the lung caused by a TNF-α inhibitor: A case report. 62
36415783 2022
14
Sarcoidosis with axial spondyloarthritis: A case-based review of simultaneous occurrence. 62
36210478 2022
15
Clinical and polysomnographic evaluation of sleep-related breathing disorders in patients with sarcoidosis. 62
35099757 2022
16
IL-7: Comprehensive review. 62
36201890 2022
17
Distinction of Lymphoma from Sarcoidosis on 18F-FDG PET/CT: Evaluation of Radiomics-Feature-Guided Machine Learning Versus Human Reader Performance. 62
35589406 2022
18
Oil Red O Staining of Pulmonary Macrophages in Bronchoalveolar Lavage Specimens Is Not Specific for Vaping-Associated Lung Injury. 62
36222561 2022
19
Long-term survival analysis of free flap reconstruction in patients with collagen vascular disorders. 62
36274012 2022
20
Microvascular capillaroscopic abnormalities and occurrence of antinuclear autoantibodies in patients with sarcoidosis. 62
36040491 2022
21
[[Translated article]]Dactylitis Due to Subcutaneous Sarcoidosis as a Manifestation of Sarcoidosis. 62
36464012 2022
22
Correspondence on 'Glucocorticoid-induced relapse of COVID-19 in a patient with sarcoidosis'. 62
33004334 2022
23
Comorbidities of sarcoidosis. 62
35441568 2022
24
Response to: 'Correspondence on 'Glucocorticoid-induced relapse of COVID-19 in a patient with sarcoidosis'' by Jeny et al. 62
33004332 2022
25
Disseminated Mucocutaneous Histoplasmosis Diagnosed in the United Kingdom, Presumably as a Result of Recrudescence Decades After Primary Infection Following Immunosuppressive Treatment of Its Mimic, Sarcoidosis: A Multidisciplinary Cautionary Tale. 62
36197058 2022
26
Pleural and pericardial effusions with cardiac conduction system and myocardial involvement: A rare presentation of sarcoidosis. 62
36193274 2022
27
Scleritis and choroidal granuloma in a young patient with sarcoidosis. 62
35853755 2022
28
Cardiac sarcoidosis: Presentation of three cases. 62
36473776 2022
29
Incidence, prevalence, and economic burden of sarcoidosis in Puerto Rico: Estimates from a government health insurance claims database. 62
34541928 2022
30
Muscle involvement in sarcoidosis. 62
34290116 2022
31
Association between right ventricular longitudinal strain and cardiovascular events in patients with cardiac sarcoidosis. 62
35981941 2022
32
Does Cancer Masquerade as Sarcoidosis? 62
35981298 2022
33
Perspective of sarcoidosis in terms of rheumatology: a single-center rheumatology clinic experience. 62
36006458 2022
34
The prevalence and geographic distribution of sarcoidosis in the United States. 62
36089937 2022
35
Sarcoidosis incidence after mTOR inhibitor treatment. 62
36182721 2022
36
HLA class I and class II antigens in sarcoidosis. 62
36472318 2022
37
Utility of angiotensin-converting enzyme and serum calcium levels in cutaneous sarcoidosis. 62
36468818 2022
38
Sarcoidosis with musculoskeletal manifestations: systematic review of non-pharmacological and pharmacological treatments. 62
35943526 2022
39
Detection of inflammation using cardiac positron emission tomography for evaluation of ventricular arrhythmias: An institutional experience. 62
35932988 2022
40
Disseminated histoplasmosis in a patient with chronic lymphoedema. 62
36193195 2022
41
Central nervous system tuberculosis in immunocompetent patients: Two case reports with literature review. 62
36204408 2022
42
Ventricular Tachycardia in Granulomatous Myocarditis: Role of Catheter Ablation. 62
36396187 2022
43
Cardiovascular CT, MRI, and PET/CT in 2021: Review of Key Articles. 62
36378032 2022
44
Post-COVID Subacute Thyroiditis and Bronchiolitis in a Lung Transplant Recipient: A Case Report. 62
36411095 2022
45
A 72-Year-Old Woman With Dyspnea, Multiple Pulmonary Nodules, and Mediastinal Lymphadenopathy. 62
36344134 2022
46
Occupational Silica Exposure and Dose-Response for Related Disorders-Silicosis, Pulmonary TB, AIDs and Renal Diseases: Results of a 15-Year Israeli Surveillance. 62
36429737 2022
47
A non-immunocompromised host with nontuberculous mycobacteria-associated tubulointerstitial nephritis. 62
35297024 2022
48
A multicenter study of ocular inflammation after COVID-19 vaccination. 62
36417027 2022
49
Semiquantitative evaluation of 68Ga-DOTANOC uptake in the normal myocardium: establishment of reference values. 62
36417120 2022
50
Identification of specific causes of myelopathy in a large cohort of patients initially diagnosed with transverse myelitis. 62
36191573 2022
Sources

Variations for Sarcoidosis 2

About this section

ClinVar genetic disease variations for Sarcoidosis 2:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSBP1-AS1, BTNL2 NM_001304561.2(BTNL2):c.1078= (p.Ser360=) SNV Risk Factor
 4649 rs2076530 GRCh37: 6:32363816-32363816
GRCh38: 6:32396039-32396039
Sources

Expression for Sarcoidosis 2

About this section
Search GEO for disease gene expression data for Sarcoidosis 2.
Sources

Pathways for Sarcoidosis 2

About this section
Sources

GO Terms for Sarcoidosis 2

About this section
Sources

Sources for Sarcoidosis 2

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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
Content
Loading form....