Sarcoidosis

General Information (adopted from Orphanet):

Synonyms, Signs: Besnier-Boeck-Schaumann disease
Boeck sarcoid
Boeck&#39
s sarcoid
Number of Symptoms 54
OrphanetNr: 797
OMIM Id: 181000
612387
612388
ICD-10: D86
UMLs: C0036202
MeSH: D012507
MedDRA: 10039486
Snomed: 31541009

Prevalence, inheritance and age of onset:

Prevalence: < 40 of 100 000 - PMID: 26885492 [IBIS]
Inheritance: Multifactorial
- PMID: 24929262 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Granulomatous autoinflammatory syndrome
 -Rare systemic or rheumatologic disease
Granulomatous myositis
 -Rare neurologic disease
Inflammatory and autoimmune disease with epilepsy
 -Rare neurologic disease
Non-familial restrictive cardiomyopathy
 -Rare cardiac disease
Pituitary hormone deficiency secondary to a granulomatous disease
 -Rare endocrine disease
 -Rare genetic disease
Rare systemic disease
 -Rare systemic or rheumatologic disease
Secondary glomerular disease
 -Rare renal disease
Secondary interstitial lung disease specific to adulthood associated with a systemic disease
 -Rare respiratory disease
Systemic diseases with anterior uveitis
 -Rare eye disease
Systemic diseases with panuveitis
 -Rare eye disease
Systemic diseases with posterior uveitis
 -Rare eye disease
Systemic inflammatory disease associated with an acquired peripheral neuropathy
 -Rare neurologic disease

Comment:

The initial clinical presentation of sarcoidosis is variable, depending on the organ systems involved (PMID:20949477). Pulmonary sarcoidosis classically presents with lymphadenopathy (bilateral hilar and right paratracheal) and micronodules in the perilymphatic distribution (PMID:24929262). Lung involvement occurs in over 90% of patients with sarcoidosis (PMID:24995495). Involvement of the heart occurs in 20%-30% of cases, but clinical manifestation may be seen in as low as 5% of patients. Neurologic complications occur in approximately 5% of patients with sarcoidosis. Isolated neurosarcoidosis, without systematic evidence of sarcoidosis, is very rare and occurs in less than 1% of patients with sarcoidosis. The involvement of the musculoskeletal system has been reported in 10%-40% of cases. Cutaneous sarcoidosis occurs in up to one-third of patients with systemic sarcoidosis and is known as one of the “great imitators” in dermatology. Approximately 30% of patients 30with cutaneous lesions develop systemic involvement (PMID:24929262). The prevalence of disease manifestation in the eye was reported as 25–50% in sarcoidosis patients (PMID:21897241). Higher NLRs ( neutrophil-to-lymphocyte ratio) (≥2) were detected in patients with sarcoidosis than in the control group. Also, high NLRs were more frequent in patients with extrapulmonary involvement (PMID:24995495).

Symptom Information: Sort by abundance 

1
 (HPO:0002716) Lymphadenopathy Very frequent [IBIS] 4682310 IBIS 129 / 7739
2
 (HPO:0008940) Generalized lymphadenopathy 20949477 IBIS 14 / 7739
3
 (IBIS) Lupus pernio 24929262 IBIS 1 / 7739
4
 (HPO:0002110) Bronchiectasis 26759510 IBIS 73 / 7739
5
 (HPO:0200036) Skin nodule 24929262 IBIS 4 / 7739
6
 (HPO:0100749) Chest pain 26759510 IBIS 92 / 7739
7
 (HPO:0200034) Papule 24929262 IBIS 12 / 7739
8
 (HPO:0012219) Erythema nodosum 24929262 IBIS 3 / 7739
9
 (HPO:0003202) Skeletal muscle atrophy 24929262 IBIS 281 / 7739
10
 (HPO:0002797) Osteolysis 24929262 IBIS 68 / 7739
11
 (HPO:0009830) Peripheral neuropathy 24929262 IBIS 206 / 7739
12
 (HPO:0000969) Edema 24929262 IBIS 117 / 7739
13
 (HPO:0001945) Fever 20949477 IBIS 218 / 7739
14
 (HPO:0030166) Night sweats 20949477 IBIS 3 / 7739
15
 (HPO:0001824) Weight loss 20949477 IBIS 42 / 7739
16
 (HPO:0010286) Abnormality of the salivary glands 20949477 IBIS 7 / 7739
17
 (HPO:0007734) Enlarged lacrimal glands 26759510 IBIS 2 / 7739
18
 (HPO:0001635) Congestive heart failure 26885492 IBIS 232 / 7739
19
 (HPO:0001645) Sudden cardiac death 26885492 IBIS 84 / 7739
20
 (HPO:0011675) Arrhythmia 26885492 IBIS 226 / 7739
21
 (HPO:0004756) Ventricular tachycardia 24929262 IBIS 55 / 7739
22
 (HPO:0001279) Syncope 24929262 IBIS 94 / 7739
23
 (HPO:0001962) Palpitations 24929262 IBIS 62 / 7739
24
 (HPO:0012220) Non-caseating epithelioid cell granulomatosis 26885492 IBIS 3 / 7739
25
 (HPO:0003072) Hypercalcemia 20949477 IBIS 36 / 7739
26
 (HPO:0002149) Hyperuricemia 20949477 IBIS 37 / 7739
27
 (HPO:0002150) Hypercalciuria 20949477 IBIS 45 / 7739
28
 (HPO:0012122) Anterior uveitis 26759510 IBIS 4 / 7739
29
 (HPO:0012630) Abnormality of the trabecular meshwork 19585358 IBIS 1 / 7739
30
 (HPO:0011483) Anterior synechiae of the anterior chamber 19585358 IBIS 1 / 7739
31
 (HPO:0100832) Vitreous floaters 19585358 IBIS 1 / 7739
32
 (HPO:0030661) Vitreous snowballs 19585358 IBIS 1 / 7739
33
 (HPO:0000533) Chorioretinal atrophy 19585358 IBIS 24 / 7739
34
 (HPO:0000505) Visual impairment 12880455 IBIS 297 / 7739
35
 (HPO:0000501) Glaucoma 12880455 IBIS 180 / 7739
36
 (HPO:0000622) Blurred vision 22927729 IBIS 14 / 7739
37
 (HPO:0000613) Photophobia 16705523 IBIS 158 / 7739
38
 (HPO:0001094) Iridocyclitis 22927729 IBIS 3 / 7739
39
 (HPO:0011505) Cystoid macular edema 21374555 IBIS 8 / 7739
40
 (HPO:0000518) Cataract 21374555 IBIS 454 / 7739
41
 (HPO:0001138) Optic neuropathy Rare [HPO:probinson] 26593141 IBIS 12 / 7739
42
 (HPO:0012062) Bone cyst 20883366 IBIS 19 / 7739
43
 (HPO:0001369) Arthritis 26759510 IBIS 44 / 7739
44
 (HPO:0001744) Splenomegaly Occasional [HPO:probinson] 24929262 IBIS 337 / 7739
45
 (HPO:0002037) Inflammation of the large intestine 24929262 IBIS 25 / 7739
46
 (HPO:0002240) Hepatomegaly Occasional [HPO:probinson] 24929262 IBIS 467 / 7739
47
 (HPO:0010702) Increased antibody level in blood 22927996 IBIS 29 / 7739
48
 (HPO:0001876) Pancytopenia 24927908 IBIS 89 / 7739
49
 (HPO:0005397) Exaggerated cellular immune processes 22927996 IBIS 2 / 7739
50
 (HPO:0003565) Elevated erythrocyte sedimentation rate 24995495 IBIS 31 / 7739
51
 (HPO:0012735) Cough 24929262 IBIS 24 / 7739
52
 (HPO:0002094) Dyspnea 24929262 IBIS 132 / 7739
53
 (HPO:0006530) Interstitial pulmonary disease 20949477 IBIS 26 / 7739
54
 (HPO:0030250) Pulmonary granulomatosis 26759510 IBIS 1 / 7739

Associated genes:

HLA-DRB1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
NOD2 rs104895438 pathogenic RCV000004965.4
NOD2 rs104895462 pathogenic RCV000004961.3
NOD2 rs104895472 pathogenic RCV000004963.3
NOD2 rs104895476 pathogenic RCV000004964.3

Additional Information: