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Sarcoidosis, susceptibility to, 2(SS2)

MedGen UID:
436694
Concept ID:
C2676468
Finding
Synonym: Sarcoidosis 2
 
Gene (location): BTNL2 (6p21.32)
 
Monarch Initiative: MONDO:0012888
OMIM®: 612387

Definition

Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene. [from MONDO]

Clinical features

From HPO
Chest pain
MedGen UID:
2992
Concept ID:
C0008031
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Facial palsy
MedGen UID:
87660
Concept ID:
C0376175
Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Hemoptysis
MedGen UID:
5502
Concept ID:
C0019079
Sign or Symptom
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Pleural effusion
MedGen UID:
10805
Concept ID:
C0032227
Pathologic Function
The presence of an excessive amount of fluid in the pleural cavity.
Pneumothorax
MedGen UID:
19365
Concept ID:
C0032326
Disease or Syndrome
Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
Emphysema
MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Pulmonary fibrosis
MedGen UID:
11028
Concept ID:
C0034069
Disease or Syndrome
Replacement of normal lung tissues by fibroblasts and collagen.
Pulmonary infiltrates
MedGen UID:
116009
Concept ID:
C0235896
Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
Hypoxemia
MedGen UID:
152145
Concept ID:
C0700292
Finding
An abnormally low level of blood oxygen.
Restrictive ventilatory defect
MedGen UID:
478856
Concept ID:
C3277226
Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Elevated bronchoalveolar lavage fluid lymphocyte proportion
MedGen UID:
1713125
Concept ID:
C5397968
Finding
Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.
Abnormal pulmonary interstitial morphology
MedGen UID:
1788738
Concept ID:
C5441745
Anatomical Abnormality
Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.
Erythema nodosum
MedGen UID:
41858
Concept ID:
C0014743
Disease or Syndrome
An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Uveitis
MedGen UID:
52961
Concept ID:
C0042164
Disease or Syndrome
Inflammation of one or all portions of the uveal tract.
Mediastinal lymphadenopathy
MedGen UID:
451062
Concept ID:
C0520743
Disease or Syndrome
Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.

Professional guidelines

PubMed

Baughman RP, Scholand MB, Rahaghi FF
Eur Respir Rev 2020 Mar 31;29(155) Epub 2020 Mar 20 doi: 10.1183/16000617.0145-2019. PMID: 32198217Free PMC Article
Akahoshi M, Ishihara M, Remus N, Uno K, Miyake K, Hirota T, Nakashima K, Matsuda A, Kanda M, Enomoto T, Ohno S, Nakashima H, Casanova JL, Hopkin JM, Tamari M, Mao XQ, Shirakawa T
Hum Genet 2004 Apr;114(5):503-9. Epub 2004 Mar 5 doi: 10.1007/s00439-004-1099-5. PMID: 15004750
Culver DA, Thomassen MJ, Kavuru MS
Cleve Clin J Med 2004 Feb;71(2):88, 90, 92 passim. doi: 10.3949/ccjm.71.2.88. PMID: 14982192

Recent clinical studies

Etiology

Kahlmann V, Manansala M, Moor CC, Shahrara S, Wijsenbeek MS, Sweiss NJ
Curr Opin Pulm Med 2021 Sep 1;27(5):463-471. doi: 10.1097/MCP.0000000000000812. PMID: 34397613
Patel AR, Kramer CM
JACC Cardiovasc Imaging 2017 Oct;10(10 Pt A):1180-1193. doi: 10.1016/j.jcmg.2017.08.005. PMID: 28982571Free PMC Article
Antonelli A, Ferrari SM, Corrado A, Di Domenicantonio A, Fallahi P
Autoimmun Rev 2015 Feb;14(2):174-80. Epub 2014 Oct 25 doi: 10.1016/j.autrev.2014.10.016. PMID: 25461470
Spagnolo P, du Bois RM
Clin Dermatol 2007 May-Jun;25(3):242-9. doi: 10.1016/j.clindermatol.2007.03.001. PMID: 17560301
Saltini C, Amicosante M
Am J Med Sci 2001 Jan;321(1):89-98. doi: 10.1097/00000441-200101000-00013. PMID: 11202485

Diagnosis

Kaufman KP, Becker ML
Curr Allergy Asthma Rep 2021 Feb 9;21(2):10. doi: 10.1007/s11882-021-00991-3. PMID: 33560445Free PMC Article
Jung JH, Jeong HS, Choi SJ, Song GG, Kim JH, Lee TH, Han Y
Sarcoidosis Vasc Diffuse Lung Dis 2020;37(2):203-211. Epub 2020 Jun 30 doi: 10.36141/svdld.v37i2.9399. PMID: 33093784Free PMC Article
Patel AR, Kramer CM
JACC Cardiovasc Imaging 2017 Oct;10(10 Pt A):1180-1193. doi: 10.1016/j.jcmg.2017.08.005. PMID: 28982571Free PMC Article
Nunes H, Bouvry D, Soler P, Valeyre D
Orphanet J Rare Dis 2007 Nov 19;2:46. doi: 10.1186/1750-1172-2-46. PMID: 18021432Free PMC Article
Saltini C, Amicosante M
Am J Med Sci 2001 Jan;321(1):89-98. doi: 10.1097/00000441-200101000-00013. PMID: 11202485

Therapy

Chen S, Tan L, Qin D, Lv H, Liu K, Xu Y, Wu X, Huang J, Xu Y
Front Immunol 2023;14:1228226. Epub 2023 Aug 24 doi: 10.3389/fimmu.2023.1228226. PMID: 37691921Free PMC Article
Jung JH, Jeong HS, Choi SJ, Song GG, Kim JH, Lee TH, Han Y
Sarcoidosis Vasc Diffuse Lung Dis 2020;37(2):203-211. Epub 2020 Jun 30 doi: 10.36141/svdld.v37i2.9399. PMID: 33093784Free PMC Article
Baughman RP, Scholand MB, Rahaghi FF
Eur Respir Rev 2020 Mar 31;29(155) Epub 2020 Mar 20 doi: 10.1183/16000617.0145-2019. PMID: 32198217Free PMC Article
Patel AR, Kramer CM
JACC Cardiovasc Imaging 2017 Oct;10(10 Pt A):1180-1193. doi: 10.1016/j.jcmg.2017.08.005. PMID: 28982571Free PMC Article
Gadola SD, Moins-Teisserenc HT, Trowsdale J, Gross WL, Cerundolo V
Clin Exp Immunol 2000 Aug;121(2):173-8. doi: 10.1046/j.1365-2249.2000.01264.x. PMID: 10931128Free PMC Article

Prognosis

Kaufman KP, Becker ML
Curr Allergy Asthma Rep 2021 Feb 9;21(2):10. doi: 10.1007/s11882-021-00991-3. PMID: 33560445Free PMC Article
Baughman RP, Scholand MB, Rahaghi FF
Eur Respir Rev 2020 Mar 31;29(155) Epub 2020 Mar 20 doi: 10.1183/16000617.0145-2019. PMID: 32198217Free PMC Article
Patel AR, Kramer CM
JACC Cardiovasc Imaging 2017 Oct;10(10 Pt A):1180-1193. doi: 10.1016/j.jcmg.2017.08.005. PMID: 28982571Free PMC Article
Grunewald J
Curr Opin Pulm Med 2008 Sep;14(5):434-9. doi: 10.1097/MCP.0b013e3283043de7. PMID: 18664974
Nunes H, Soler P, Valeyre D
Allergy 2005 May;60(5):565-82. doi: 10.1111/j.1398-9995.2005.00778.x. PMID: 15813801

Clinical prediction guides

Chen S, Tan L, Qin D, Lv H, Liu K, Xu Y, Wu X, Huang J, Xu Y
Front Immunol 2023;14:1228226. Epub 2023 Aug 24 doi: 10.3389/fimmu.2023.1228226. PMID: 37691921Free PMC Article
Baughman RP, Scholand MB, Rahaghi FF
Eur Respir Rev 2020 Mar 31;29(155) Epub 2020 Mar 20 doi: 10.1183/16000617.0145-2019. PMID: 32198217Free PMC Article
Patel AR, Kramer CM
JACC Cardiovasc Imaging 2017 Oct;10(10 Pt A):1180-1193. doi: 10.1016/j.jcmg.2017.08.005. PMID: 28982571Free PMC Article
Sen-Chowdhry S, Syrris P, McKenna WJ
Heart Fail Clin 2010 Apr;6(2):179-86. doi: 10.1016/j.hfc.2009.11.005. PMID: 20347786
Nunes H, Soler P, Valeyre D
Allergy 2005 May;60(5):565-82. doi: 10.1111/j.1398-9995.2005.00778.x. PMID: 15813801

Recent systematic reviews

Terwiel M, van Moorsel CHM
Respir Med 2019 Mar;149:36-41. Epub 2018 Dec 13 doi: 10.1016/j.rmed.2018.11.022. PMID: 30587386
Zhou H, Diao M, Zhang M
Sarcoidosis Vasc Diffuse Lung Dis 2016 Aug 1;33(2):102-11. PMID: 27537711
Medica I, Kastrin A, Maver A, Peterlin B
J Hum Genet 2007;52(10):836-847. Epub 2007 Sep 4 doi: 10.1007/s10038-007-0185-7. PMID: 17768594

Supplemental Content

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

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