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SS2
MCID: SRC023
MIFTS: 40

Sarcoidosis 2 (SS2)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Sarcoidosis 2

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MalaCards integrated aliases for Sarcoidosis 2:

Name: Sarcoidosis 2 58 76 30 6
Sarcoidosis, Susceptibility to, 2 58 13
Sarcoidosis 76 74
Ss2 58 76
Sarcoidosis, Susceptibility to, Type 2 41
Besnier-Boeck-Schaumann Disease 76
Boeck Sarcoid 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Eye diseases Neuronal diseases Respiratory diseases Bone diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 58 612387
MeSH 45 D012507
MedGen 43 C2676468
SNOMED-CT via HPO 70 193093009 233703007 95666008
UMLS 74 C0036202
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Summaries for Sarcoidosis 2

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UniProtKB/Swiss-Prot : 76 Sarcoidosis 2: 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 sarcoidosis 1 and pulmonary sarcoidosis, and has symptoms including snoring and coughing. An important gene associated with Sarcoidosis 2 is BTNL2 (Butyrophilin Like 2). The drugs Fluticasone and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and spleen, and related phenotypes are facial palsy and interstitial pulmonary abnormality

Description from OMIM: 612387
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Related Diseases for Sarcoidosis 2

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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 789)
# Related Disease Score Top Affiliating Genes
1 sarcoidosis 1 12.9
2 pulmonary sarcoidosis 12.7
3 cardiac sarcoidosis 12.5
4 skin sarcoidosis 12.4
5 blau syndrome 12.3
6 hypercalcemic sarcoidosis 12.2
7 sarcoidosis 3 12.1
8 neurosarcoidosis 12.1
9 uveoparotid fever 11.5
10 melkersson-rosenthal syndrome 11.5
11 pars planitis 11.4
12 beryllium disease 11.3
13 interstitial lung disease 11.3
14 retinal vasculitis 11.3
15 intermediate uveitis 11.3
16 orofacial granulomatosis 11.1
17 sarcoid meningitis 11.1
18 primary cutaneous amyloidosis 11.0
19 rickets 11.0
20 erythema nodosum, idiopathic 11.0
21 granulomatous lobular mastitis 11.0
22 idiopathic hypertrophic pachymeningitis 11.0
23 granulomatous mastitis 11.0
24 lymphoma 10.4
25 uveitis 10.3
26 pulmonary fibrosis 10.3
27 pulmonary fibrosis, idiopathic 10.3
28 pulmonary hypertension 10.3
29 hepatitis 10.3
30 splenomegaly 10.2
31 extrinsic allergic alveolitis 10.2
32 arthritis 10.2
33 hepatitis c 10.2
34 lung disease 10.2
35 atrioventricular block 10.2
36 lupus erythematosus 10.1
37 scleroderma, familial progressive 10.1
38 patulous eustachian tube 10.1
39 myocarditis 10.1
40 neuropathy 10.1
41 interstitial nephritis 10.1
42 histoplasmosis 10.1
43 rheumatoid arthritis 10.1
44 granuloma annulare 10.1
45 pulmonary tuberculosis 10.1
46 necrobiosis lipoidica 10.1
47 rere-related disorders 10.1
48 vasculitis 10.1
49 breast cancer 10.1
50 myositis 10.1

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
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Symptoms & Phenotypes for Sarcoidosis 2

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Human phenotypes related to Sarcoidosis 2:

33
# Description HPO Frequency HPO Source Accession
1 facial palsy 33 HP:0010628
2 interstitial pulmonary abnormality 33 HP:0006530

Symptoms via clinical synopsis from OMIM:

58
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:
bilateral hilar adenopathy
interstitial lung disease
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

UMLS symptoms related to Sarcoidosis 2:


snoring, coughing
Sources

Drugs & Therapeutics for Sarcoidosis 2

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

(show top 50) (show all 118)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluticasone Approved, Experimental Phase 4,Phase 1 90566-53-3 62924
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Racepinephrine Approved Phase 4 329-65-7 838
4 Bronchodilator Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
5 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Anti-Asthmatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Parenteral Nutrition Solutions Phase 4
10 Fat Emulsions, Intravenous Phase 4
11 Soy Bean Phase 4
12 Pharmaceutical Solutions Phase 4
13 Dermatologic Agents Phase 4,Phase 1
14 Epinephryl borate Phase 4
15 Anti-Allergic Agents Phase 4,Phase 1
16 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
17
Ritonavir Approved, Investigational Phase 3 155213-67-5 392622
18
Varenicline Approved, Investigational Phase 3 249296-44-4 5310966
19 Adrenergic beta-Agonists Phase 3,Phase 2,Not Applicable
20 Adrenergic Agonists Phase 3,Phase 2,Not Applicable
21 Adrenergic beta-2 Receptor Agonists Phase 3,Phase 2,Not Applicable
22 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Not Applicable
23 Adrenergic Agents Phase 3,Phase 2,Phase 1,Not Applicable
24 Hormones Phase 3,Phase 2,Not Applicable
25 Cholinergic Antagonists Phase 3,Phase 2,Phase 1
26 Formoterol Fumarate Phase 3
27 Hormone Antagonists Phase 3
28
Beclomethasone Phase 3 4419-39-0 20469
29 Bromides Phase 3,Phase 2
30 glucocorticoids Phase 3
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
32 Tiotropium Bromide Phase 3 136310-93-5
33 Cholinergic Agents Phase 3,Phase 2,Phase 1,Not Applicable
34 Parasympatholytics Phase 3
35 Cytochrome P-450 Enzyme Inhibitors Phase 3
36 Antiviral Agents Phase 3
37 Cytochrome P-450 CYP3A Inhibitors Phase 3
38 HIV Protease Inhibitors Phase 3
39 Anti-Infective Agents Phase 3
40
protease inhibitors Phase 3
41 Anti-Retroviral Agents Phase 3
42 Anti-HIV Agents Phase 3
43 Nicotinic Agonists Phase 3
44 gamma-Globulins Phase 3
45 Immunoglobulin G Phase 3
46 Immunoglobulins, Intravenous Phase 3
47 Rho(D) Immune Globulin Phase 3
48 Immunoglobulins Phase 3
49 Immunologic Factors Phase 3,Phase 2
50 Antibodies Phase 3

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 The Effects of Two Different Intravenous Lipid Emulsions on the Outcomes of Preterm Infants With Sepsis Completed NCT03275090 Phase 4 Smoflipid ®
2 Comparison FX CorDiax 60 in Relation to the FX 60-Dialyzer Completed NCT01534741 Phase 4
3 RCT of a Written Action Plan vs. Usual Care in Children With Acute Asthma Completed NCT00381355 Phase 4
4 Clinical Trial of Fluticasone Versus Placebo at the Onset of a Cold for Children With Asthma Completed NCT00238927 Phase 4 inhaled fluticasone 750 mcg/day twice daily until 2 days without symptoms (maximum 15 consecutive days)
5 TRIple in asthMA With uncontRolled pAtient on Medium streNgth of ICS + LABA Completed NCT02676076 Phase 3 CHF 5993 100/6/12.5 µg;CHF 1535 100/6 µg
6 TRIple in Asthma hiGh strenGth vErsus Ics/Laba hs and tiotRopium (TRIGGER) Completed NCT02676089 Phase 3 CHF 5993 200/6/12.5 µg;CHF 1535 200/6 µg;CHF 1535 200/6 µg + Tiotropium Respimat 2.5 µg
7 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
8 Efficacy of Varenicline on Smoking Cessation at the Acute Phase of an Exacerbation of Chronic Obstructive Pulmonary Disease Completed NCT01694732 Phase 3 Varenicline;placebo
9 Safety, Tolerability, Efficacy, and Pharmacokinetic Study of ProMetic BioTherapeutics Immune Globulin Intravenous (Human) 10% Active, not recruiting NCT02269163 Phase 3
10 Early Treatment Stratification Based on PET Scan Response to Chemotherapy in Patients With Diffuse Large B-cell Lymphoma Completed NCT01361191 Phase 2 R-MEGACHOP
11 Safety, Preliminary Pharmacokinetics and Bronchodilator Properties of V0162 Completed NCT01348555 Phase 1, Phase 2 Bronchodilatator;Bronchodilatator
12 A Clinical Study to Assess the Safety, Tolerability, and Activity of Oral SRT2104 Capsules Administered for 28 Days to Subjects With Type 2 Diabetes Mellitus Completed NCT01018017 Phase 2 Placebo;SRT2104
13 An Investigation Of The Interaction Of GSK961081 With Inhaled Beta-Agonist And Anti-Muscarinic Drugs. Completed NCT00674817 Phase 2 400 microgrammes GSK961081;1200 microgrammes GSK961081
14 Magnesium Nebulization Utilization in Management of Pediatric Asthma Recruiting NCT01429415 Phase 2 Magnesium Sulfate Sandoz;Sodium Chloride , USP PPC
15 Phase 2 Study to Assess Activity & Safety of Front-line Ibrutinib + Rituximab in Unfit Chronic Lymphocytic Leukemia Active, not recruiting NCT02232386 Phase 2 Ibrutinib;Rituximab
16 Effects of Propranolol (vs. Placebo) on Information Processing During Presentation of Emotionally Arousing Pictures Completed NCT02509559 Phase 1 propranololhydrochloride;placebo
17 Comparing Two Respiratory Drugs When Used In Combination And Separately From A Novel Inhaler Device In Healthy Subjects Completed NCT00538057 Phase 1 GW685698X & GW642444M
18 Comparing Two Respiratory Drugs in Combination and Separately From a Novel Inhaler Device in Healthy Japanese Subjects Completed NCT00625196 Phase 1 Fluticasone foroate/ vilanterol;Fluticasone foroate;Vilanterol;Placebo
19 A Study to Assess the Safety and Pharmacokinetics of Inhaled Doses of GSK233705 and GW642444 in Healthy Subjects Completed NCT00783003 Phase 1 GSK233705 and GW642444;GW642444;GSK233705;Placebo
20 A Study to Assess the Safety and Pharmacokinetics of Inhaled Doses of GSK233705 and GW642444 in Healthy Subjects. Completed NCT00671216 Phase 1 GSK233705;GW642444;GSK233705 and GW642444;Placebo
21 Characterization of Removal Capacities of the Theranova Membrane by Proteomic Investigations Unknown status NCT03137056 Not Applicable
22 Genetic Determinants of the Bronchodilatation Effect of Albuterol ex-Vivo Unknown status NCT00162422 Not Applicable albuterol
23 Genetic Determinants of the Hypokalemic and Hyperglycemic Effect of Albuterol Inhalation Unknown status NCT00162487 Not Applicable Albuterol (1,200 μg) through metered-dose inhaler
24 Clinical Evidence of pH Dependent ß2 Adrenergic Transport Mechanisms in the Airway Completed NCT01216748 Not Applicable
25 Vascular Response to Isoproterenol and β2 Adrenergic Receptor Polymorphisms Completed NCT00226551 Not Applicable Isoproterenol
26 Investigation of Performance and Compatibility of the Baxter Dialyzer Xenium XPH 210 During On-line Hemodiafiltration Completed NCT00976846 Not Applicable
27 Performance Comparison of Revaclear With Larger Dialyzer Completed NCT01722695 Not Applicable
28 Cholinergic Nicotinic Receptors and Cognition in PD Completed NCT02076295
29 Beta-2 Polymorphisms and Beta Receptor Selectivity Completed NCT00214318 Not Applicable Terbutaline plus Metoprolol or carvedilol
30 Safety and Clinical Performance of a Dialyzer With a Modified Polysulfone Membrane Completed NCT03315624 Not Applicable
31 Correlation Between Patient Perception and Findings on Clinical Examination in Chronic Obstructive Pulmonary Disease (COPD) Patients Completed NCT01703416
32 A 6 Months NIS to Evaluate the Use of Rescue Medication and Quality of Life in Adult Asthmatic Subjects Treated With Symbicort® SMART® Completed NCT00884689
33 B2-Adrenergic Receptor Polymorphisms Completed NCT00279786
34 Investigation on the Middle Size Molecule Elimination Characteristics of the FXCorDiax 100 in Relation to the FX 100 and the Polyflux 210 H Dialyser Completed NCT01578421 Not Applicable
35 Observational Study of Adherence to LABA / LAMA in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT01937390 Tiotropium 2x2.5µg tiotropium (equivalent to 2x3.154µg tiotropium bromide monohydrate) Respimat® inhaler and cartridge Solution for inhalation;Indacterol 300 µg;Tiotropium 18µg (equivalent to 22.5µg tiotropium bromide monohydrate) HandiHaler® device Inhalation powder, hard capsule;Indacterol 150 µg
36 Tissue Engineering Microtia Auricular Reconstruction: in Vitro and in Vivo Studies Completed NCT00958802 Early Phase 1
37 Inhalation Therapy in Ambulant and Hospitalized Patient Using Available Film Sequences From the Internet Completed NCT03087188
38 The Effects Of Methacholine Challenge Administered Using Three Different Nebulizers On Small Airways Function Completed NCT00529477 Not Applicable
39 Determination of in Vivo Ultrafiltration Coefficient (KUF) in Patients With Chronic Kidney Disease (CKD) Completed NCT01111266 Not Applicable
40 The Effect of On-line Hemodiafiltratrion on Nutritional Status and Body Composition Completed NCT03190629 Not Applicable
41 Tenofovir Renal Toxicity and Glomerular Filtration Rate (GFR) Validation Completed NCT01138241
42 Determinants Of Oral Corticosteroid Responsiveness in Wheezing Asthmatic Youth Completed NCT02013076
43 Determination In-vivo KUF for Diacap Pro Hemodialyser Completed NCT02964429 Not Applicable
44 Exploratory Study to Explore the Safety and Efficacy of the HDx Therapy Using Theranova 500 Dialyzer in Comparison to Hemodiafiltration Completed NCT03499691 Not Applicable
45 Evaluation of a Yoga Program in Schools Completed NCT01348893 Not Applicable
46 Exercise Training in Asthma Children Completed NCT01438294 Not Applicable
47 Shortened Prolonged Exposure Therapy for Chronic PTSD in Taiwanese Adults Recruiting NCT03391297 Not Applicable

Search NIH Clinical Center for Sarcoidosis 2

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Genetic Tests for Sarcoidosis 2

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Genetic tests related to Sarcoidosis 2:

# Genetic test Affiliating Genes
1 Sarcoidosis 2 30 BTNL2
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Anatomical Context for Sarcoidosis 2

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MalaCards organs/tissues related to Sarcoidosis 2:

42
Skin, Eye, Spleen, Kidney, Bone, Bone Marrow, B Cells
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Publications for Sarcoidosis 2

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Articles related to Sarcoidosis 2:

# Title Authors Year
1
[Lung transplant in patients with sarcoidosis: 2 case reports and a pathophysiologic review]. ( 20151527 )
2009
2
[Coincidence of silicosis and sarcoidosis. 2. Relations between silicosis and sarcoidosis as well as forensic consequences]. ( 3716495 )
1986
3
Sarcoidosis. 2. Management of sarcoidosis. ( 5008018 )
1972
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Variations for Sarcoidosis 2

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ClinVar genetic disease variations for Sarcoidosis 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BTNL2 NM_001304561.1(BTNL2): c.1078A= (p.Ser360=) single nucleotide variant risk factor rs2076530 GRCh37 Chromosome 6, 32363816: 32363816
2 BTNL2 NM_001304561.1(BTNL2): c.1078A= (p.Ser360=) single nucleotide variant risk factor rs2076530 GRCh38 Chromosome 6, 32396039: 32396039
Sources

Expression for Sarcoidosis 2

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Search GEO for disease gene expression data for Sarcoidosis 2.
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Pathways for Sarcoidosis 2

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GO Terms for Sarcoidosis 2

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Sources for Sarcoidosis 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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