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Sarcoidosis, susceptibility to, 1(SS1)

MedGen UID:
394568
Concept ID:
C2697310
Finding
Synonyms: BOECK SARCOID; Sarcoidosis 1
 
Gene (location): HLA-DRB1 (6p21.32)
 
Monarch Initiative: MONDO:0008399
OMIM®: 181000

Definition

Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 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.
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Finding
Abnormally high level of calcium in the urine.
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.
Pericardial effusion
MedGen UID:
10653
Concept ID:
C0031039
Disease or Syndrome
Accumulation of fluid within the pericardium.
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.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Inflammation of the large intestine
MedGen UID:
662273
Concept ID:
C0578878
Disease or Syndrome
Inflammation, or an inflammatory state in the large intestine.
Anorexia
MedGen UID:
315
Concept ID:
C0003123
Disease or Syndrome
Anorexia, or the loss of appetite for food, is a medical condition.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Bone cyst
MedGen UID:
2696
Concept ID:
C0005937
Anatomical Abnormality
A fluid filled cavity that develops with a bone.
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.
Cough
MedGen UID:
41325
Concept ID:
C0010200
Sign or Symptom
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
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
Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
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.
Iridocyclitis
MedGen UID:
43961
Concept ID:
C0022073
Disease or Syndrome
A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.
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.
Generalized lymphadenopathy
MedGen UID:
96909
Concept ID:
C0476486
Finding
A generalized form of lymphadenopathy.
Abnormality of T cell physiology
MedGen UID:
868761
Concept ID:
C4023166
Pathologic Function
A functional anomaly of T cells.
Increased circulating antibody level
MedGen UID:
1713383
Concept ID:
C5397581
Finding
An increased level of gamma globulin (immunoglobulin) in the blood.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Abnormal salivary gland morphology
MedGen UID:
892384
Concept ID:
C0149772
Anatomical Abnormality
Any abnormality of the salivary glands, the exocrine glands that produce saliva.
Enlarged lacrimal glands
MedGen UID:
401142
Concept ID:
C1867030
Finding
Abnormally big lacrimal glands.
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.
Chorioretinitis
MedGen UID:
942
Concept ID:
C0008513
Disease or Syndrome
An inflammation of the choroid and retina.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Epiphora
MedGen UID:
57518
Concept ID:
C0152227
Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Blurred vision
MedGen UID:
91020
Concept ID:
C0344232
Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
Optic neuropathy
MedGen UID:
854546
Concept ID:
C3887709
Disease or Syndrome
Disorder of the optic nerve.

Professional guidelines

PubMed

Kishore A, Sikorova K, Kocourkova L, Petrkova J, Doubkova M, Jakubec P, Rębała K, Dubaniewicz A, Petrek M
Gene 2023 Aug 20;878:147577. Epub 2023 Jun 17 doi: 10.1016/j.gene.2023.147577. PMID: 37336276
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
Spagnolo P, Luppi F, Cerri S, Richeldi L
Orphanet J Rare Dis 2012 Oct 17;7:79. doi: 10.1186/1750-1172-7-79. PMID: 23075428Free PMC Article

Recent clinical studies

Etiology

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
Nathan N, Sileo C, Calender A, Pacheco Y, Rosental PA, Cavalin C, Macchi O, Valeyre D, Clement A; French Sarcoidosis Group (GSF); Silicosis Research Group
Paediatr Respir Rev 2019 Feb;29:53-59. Epub 2018 May 19 doi: 10.1016/j.prrv.2018.05.003. PMID: 30917882
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
Saltini C, Amicosante M
Am J Med Sci 2001 Jan;321(1):89-98. doi: 10.1097/00000441-200101000-00013. PMID: 11202485

Diagnosis

Tana C, Azorin DG, Cinetto F, Mantini C, Tana M, Caulo M, Ricci F, Martelletti P, Cipollone F, Giamberardino MA
Int J Mol Sci 2023 May 5;24(9) doi: 10.3390/ijms24098304. PMID: 37176011Free 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
Nathan N, Sileo C, Calender A, Pacheco Y, Rosental PA, Cavalin C, Macchi O, Valeyre D, Clement A; French Sarcoidosis Group (GSF); Silicosis Research Group
Paediatr Respir Rev 2019 Feb;29:53-59. Epub 2018 May 19 doi: 10.1016/j.prrv.2018.05.003. PMID: 30917882
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
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
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
Chen ES, Moller DR
Nat Rev Rheumatol 2011 Jul 12;7(8):457-67. doi: 10.1038/nrrheum.2011.93. PMID: 21750528
Tsai TF, Yeh TY
Am J Clin Dermatol 2010;11(4):225-32. doi: 10.2165/11533190-000000000-00000. PMID: 20509717

Prognosis

Miedema JR, Kaiser Y, Broos CE, Wijsenbeek MS, Grunewald J, Kool M
J Autoimmun 2018 Feb;87:82-96. Epub 2018 Jan 5 doi: 10.1016/j.jaut.2017.12.012. PMID: 29310925
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
Sanchez M, Haimovic A, Prystowsky S
Dermatol Clin 2015 Jul;33(3):389-416. doi: 10.1016/j.det.2015.03.006. PMID: 26143421
Tchernev G, Ananiev J, Cardoso JC, Wollina U, Verma SB, Patterson JW, Dourmishev LA, Tronnier M, Okamoto H, Mizuno K, Kanazawa N, Gulubova M, Manolova I, Salaro C
Wien Klin Wochenschr 2012 Apr;124(7-8):227-38. Epub 2012 Apr 14 doi: 10.1007/s00508-012-0154-9. PMID: 22527817
Iannuzzi MC
Semin Respir Crit Care Med 2007 Feb;28(1):15-21. doi: 10.1055/s-2007-970330. PMID: 17330189

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
Kim HJ, Kim HM, Song JW
Sci Rep 2021 Dec 8;11(1):23700. doi: 10.1038/s41598-021-03175-1. PMID: 34880400Free 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
Padilla ML, Schilero GJ, Teirstein AS
Sarcoidosis Vasc Diffuse Lung Dis 2002 Mar;19(1):18-24. PMID: 12002380

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
Aliyali M, Badali H, Shokohi T, Moazeni M, Nosrati A, Godazandeh G, Dolatabadi S, Nabili M
Mycopathologia 2016 Apr;181(3-4):255-65. Epub 2015 Dec 14 doi: 10.1007/s11046-015-9974-2. PMID: 26666549
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

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