ORPHA:797
Sarcoidosis
Synonyms: Besnier-Boeck-Schaumann disease · Boeck sarcoid
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sarcoidosis | Besnier-Boeck-Schaumann disease · Boeck sarcoid |
| fr | Sarcoïdose | BBS · Maladie de Besnier-Boeck-Schaumann · Maladie de Boeck |
| de | Sarkoidose | Besnier-Boeck-Schaumann-Krankheit · Boeck-Krankheit |
| es | Sarcoidosis | Enfermedad de Besnier-Boeck-Schaumann · Enfermedad de Boeck |
| it | Sarcoidosi | Malattia di Besnier-Boeck-Schaumann · Malattia di Boeck |
| nl | Sarcoïdose | Sarcoïd van Boeck · Ziekte van Besnier-Boeck-Schaumann |
| pt | Sarcoidose | Doença de Besnier-Boeck-Schaumann · Sarcoide de Boeck |
| pl | Sarkoidoza | Choroba Besniera, Boecka i Schaumanna |
| cs | Sarkoidóza | Besnierova-Boeckova-Schaumannova choroba · Boeckova sarkoidóza · Besnier-Boeck-Schaumannova choroba |
| uk | Саркоїдоз | Хвороба Бесніє-Бека-Шомана · Саркоїд Бека |
| zh | 结节病 | Besnier-Boeck-Schaumann病 |
| tr | Sarkoidoz | Boeck sarkoid · Besnier-Boeck-Schaumann hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181000 | E | validated | |
| OMIM | 612387 | BTNT | validated | |
| OMIM | 612388 | BTNT | validated | |
| ICD-10 | D86.0 | BTNT | specific | validated |
| ICD-10 | D86.1 | BTNT | specific | validated |
| ICD-10 | D86.2 | BTNT | specific | validated |
| ICD-10 | D86.3 | BTNT | specific | validated |
| ICD-10 | D86.8 | BTNT | specific | validated |
| ICD-10 | D86.9 | BTNT | specific | validated |
| ICD-11 | 4B20 | E | specific | validated |
| ICD-11 | 4B20.0 | BTNT | specific | validated |
| ICD-11 | 4B20.1 | BTNT | specific | validated |
| ICD-11 | 4B20.2 | BTNT | specific | validated |
| ICD-11 | 4B20.3 | BTNT | specific | validated |
| ICD-11 | 4B20.4 | BTNT | specific | validated |
| ICD-11 | 4B20.5 | BTNT | specific | validated |
| MONDO | 0019338 | E | validated | |
| MeSH | D012507 | E | validated | |
| UMLS | C0036202 | E | validated | |
| GARD | 7607 | E | validated | |
| MedDRA | 10039486 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (12):
- ORPHA:324930Granulomatous autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:166484Inflammatory and autoimmune disease with epilepsy
rare neurological diseases - ORPHA:217720Non-familial restrictive cardiomyopathy
rare cardiac diseases - ORPHA:567558Non-genetic systemic disease with glomerulopathy as a major feature
rare renal diseases; rare transplant-related disorders - ORPHA:95617Pituitary hormone deficiency secondary to a granulomatous disease
rare endocrine diseases - ORPHA:280373Rare pediatric systemic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases - ORPHA:264745Secondary interstitial lung disease specific to adulthood associated with a systemic disease
rare respiratory diseases; rare transplant-related disorders - ORPHA:280926Systemic diseases with anterior uveitis
rare ophthalmic disorders - ORPHA:280933Systemic diseases with panuveitis
rare ophthalmic disorders - ORPHA:280930Systemic diseases with posterior uveitis
rare ophthalmic disorders - ORPHA:209007Systemic inflammatory disease associated with an acquired peripheral neuropathy
rare neurological diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BTNL2 | Major susceptibility factor in | Assessed | HGNC:1142 | ENSG00000204290 | 606000 | 6p21.32 | butyrophilin like 2 | 15735647[PMID] |
| HLA-DRB1 | Major susceptibility factor in | Assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 22991420[PMID] |
5
Prevalence and incidence
34 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only | Validated | [EXPERT]_ORPHANET_DOI:10.1016/B978-0-323-54429-0.00001-X[OTHER] |
| Point prevalence | 1-5 / 10 000 | 48.1 / 100 000 | Ireland | Value and class | Validated | [EXPERT]_DOI:10.1016/B978-0-323-54429-0.00001-X[OTHER] |
| Annual incidence | 1-9 / 100 000 | 3.3 / 100 000 | Croatia | Value and class | Validated | 21906764[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2007[OTHER]_DOI:10.1016/B978-0-323-54429-0.00001-X[OTHER] |
| Annual incidence | 1-9 / 100 000 | 5 / 100 000 | United Kingdom | Value and class | Validated | 16844727[PMID] |
| Point prevalence | 1-5 / 10 000 | 30.2 / 100 000 | France | Value and class | Validated | 28775045 [PMID]_[EXPERT] |
| Annual incidence | 1-9 / 100 000 | 4.5 / 100 000 | Spain | Value and class | Validated | 21546016[PMID] |
| Point prevalence | 1-5 / 10 000 | 28.2 / 100 000 | Finland | Value and class | Validated | 7617979[PMID] |
| Annual incidence | 1-9 / 100 000 | 4.68 / 100 000 | Denmark | Value and class | Validated | 18983653[PMID] |
| Annual incidence | 1-9 / 100 000 | 7 / 100 000 | Switzerland | Value and class | Validated | 19897550[PMID] |
| Point prevalence | 6-9 / 10 000 | — | Switzerland | Class only | Validated | DOI:10.1016/B978-0-323-54429-0.00001-X[OTHER]_[EXPERT] |
| Annual incidence | 1-9 / 100 000 | 1.07 / 100 000 | Greece | Value and class | Validated | 19345567[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.89 / 100 000 | Greece | Value and class | Validated | 19345567[PMID] |
| Annual incidence | 1-9 / 100 000 | 3.84 / 100 000 | Iceland | Value and class | Validated | 17277405[PMID] |
| Annual incidence | 1-9 / 100 000 | 4 / 100 000 | Czech Republic | Value and class | Validated | 7809493[PMID] |
| Point prevalence | 6-9 / 10 000 | 63 / 100 000 | Czech Republic | Value and class | Validated | 7809493[PMID] |
| Annual incidence | 1-9 / 100 000 | 5.35 / 100 000 | Australia | Value and class | Validated | 17535377[PMID]_ORPHANET_[EXPERT] |
| Annual incidence | 1-9 / 100 000 | 1.01 / 100 000 | Japan | Value and class | Validated | 17959635[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.7 / 100 000 | Japan | Value and class | Validated | 7617979[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.125 / 100 000 | Korea, Republic of | Value and class | Validated | 11436538[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.56 / 100 000 | Singapore | Value and class | Validated | 17539838[PMID] |
| Point prevalence | 6-9 / 10 000 | 60 / 100 000 | United States | Value and class | Validated | 2750915[PMID]_[EXPERT] |
| Point prevalence | 1-5 / 10 000 | 49 / 100 000 | Italy | Value and class | Validated | 28475583[PMID] |
| Annual incidence | 1-9 / 100 000 | 4.9 / 100 000 | France | Value and class | Validated | 28775045 [PMID]_[EXPERT] |
| Point prevalence | >1 / 1000 | 160 / 100 000 | Sweden | Value and class | Validated | 27471207[PMID] |
| Annual incidence | 1-5 / 10 000 | 11.5 / 100 000 | Sweden | Value and class | Validated | 27471207[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.17 / 100 000 | Taiwan, Province of China | Value and class | Validated | 27786368 [PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Portugal | Value and class | Validated | 5884467[PMID] |
| Point prevalence | 1-5 / 10 000 | 26.7 / 100 000 | Norway | Value and class | Validated | 5884453[PMID] |
| Annual incidence | 1-5 / 10 000 | 14.4 / 100 000 | Norway | Value and class | Validated | 5884453[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.5 / 100 000 | Canada | Value and class | Validated | 5884470[PMID] |
| Point prevalence | 1-5 / 10 000 | 21 / 100 000 | Guadeloupe | Value and class | Validated | 24962008[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.3 / 100 000 | Guadeloupe | Value and class | Validated | 24962008[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.4 / 100 000 | Uruguay | Value and class | Validated | 5884475[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
77 annotations · validated 2017-02-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0011121 | Abnormal skin morphology | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0002103 | Abnormality of the pleura | |
| HP:0100749 | Chest pain | |
| HP:0012735 | Cough | |
| HP:0001410 | Decreased liver function | |
| HP:0002094 | Dyspnea | |
| HP:0012219 | Erythema nodosum | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0100828 | Increased T cell count | |
| HP:0001386 | Joint swelling | |
| HP:0001882 | Leukopenia | |
| HP:0002202 | Pleural effusion | |
| HP:0200036 | Skin nodule | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000554 | Uveitis | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0030872 | Abnormal cardiac ventricular function | |
| HP:0000502 | Abnormal conjunctiva morphology | |
| HP:0030146 | Abnormal liver parenchyma morphology | |
| HP:0012243 | Abnormal reproductive system morphology | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0002733 | Abnormality of the lymph nodes | |
| HP:0000433 | Abnormality of the nasal mucosa | |
| HP:0001596 | Alopecia | |
| HP:0001903 | Anemia | |
| HP:0011675 | Arrhythmia | |
| HP:0001369 | Arthritis | |
| HP:0000618 | Blindness | |
| HP:0012062 | Bone cyst | |
| HP:0002110 | Bronchiectasis | |
| HP:0000518 | Cataract | |
| HP:0010310 | Chylothorax | |
| HP:0000620 | Dacryocystitis | |
| HP:0000873 | Diabetes insipidus | |
| HP:0002097 | Emphysema | |
| HP:0007734 | Enlarged lacrimal glands | |
| HP:0011801 | Enlargement of parotid gland | |
| HP:0010628 | Facial palsy | |
| HP:0000501 | Glaucoma | |
| HP:0012722 | Heart block | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0003072 | Hypercalcemia | |
| HP:0002150 | Hypercalciuria | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0033505 | Livedo reticularis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0040186 | Maculopapular exanthema | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000787 | Nephrolithiasis | |
| HP:0011850 | Parotitis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002107 | Pneumothorax | |
| HP:0001409 | Portal hypertension | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0000083 | Renal insufficiency | |
| HP:0100699 | Scarring | |
| HP:0200035 | Skin plaque | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0001970 | Tubulointerstitial nephritis | |
| HP:0002781 | Upper airway obstruction | |
| HP:0004756 | Ventricular tachycardia | |
| Very rare (<4-1%) | ||
| HP:0000834 | Abnormality of the adrenal glands | |
| HP:0001878 | Hemolytic anemia | |
| HP:0002105 | Hemoptysis | |
| HP:0000836 | Hyperthyroidism | |
| HP:0002045 | Hypothermia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001880 | Increased total eosinophil count | |
Annotation source: 10430755[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/797
- This record as JSON: /data/d/797.json