MCID: SRC023
MIFTS: 29

Sarcoidosis 2

Categories: Genetic diseases, Rare diseases, Immune diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Endocrine diseases

Aliases & Classifications for Sarcoidosis 2

MalaCards integrated aliases for Sarcoidosis 2:

Name: Sarcoidosis 2 57 75 29 6
Sarcoidosis, Susceptibility to, 2 57 13
Sarcoidosis 75 73
Ss2 57 75
Sarcoidosis, Susceptibility to, Type 2 40
Besnier-Boeck-Schaumann Disease 75
Boeck Sarcoid 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


Classifications:



External Ids:

OMIM 57 612387
MedGen 42 C2676468
MeSH 44 D012507

Summaries for Sarcoidosis 2

UniProtKB/Swiss-Prot : 75 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 coughing and snoring. An important gene associated with Sarcoidosis 2 is BTNL2 (Butyrophilin Like 2). Affiliated tissues include lung, skin and liver.

Description from OMIM: 612387

Related Diseases for Sarcoidosis 2

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 78)
# Related Disease Score Top Affiliating Genes
1 sarcoidosis 1 12.7
2 pulmonary sarcoidosis 12.5
3 skin sarcoidosis 12.2
4 cardiac sarcoidosis 12.1
5 blau syndrome 12.1
6 cerebral sarcoidosis 12.1
7 hypercalcemic sarcoidosis 12.0
8 sarcoidosis 3 11.9
9 neurosarcoidosis 11.5
10 melkersson-rosenthal syndrome 11.4
11 pars planitis 11.3
12 progressive multifocal leukoencephalopathy 11.2
13 beryllium disease 11.1
14 interstitial lung disease 11.1
15 retinal vasculitis 11.1
16 intermediate uveitis 11.1
17 orofacial granulomatosis 11.0
18 sarcoid meningitis 10.9
19 primary cutaneous amyloidosis 10.8
20 rickets 10.8
21 uveoparotid fever 10.8
22 erythema nodosum, idiopathic 10.8
23 granulomatous lobular mastitis 10.8
24 idiopathic hypertrophic pachymeningitis 10.8
25 granulomatous mastitis 10.8
26 hepatitis 10.1
27 pulmonary fibrosis 10.1
28 pulmonary fibrosis, idiopathic 10.1
29 uveitis 10.1
30 lymphoma 10.0
31 pulmonary hypertension 10.0
32 atrioventricular block 10.0
33 hepatitis c 10.0
34 mediastinitis 10.0
35 splenomegaly 10.0
36 interstitial nephritis 10.0
37 thyroiditis 10.0
38 lupus erythematosus 10.0
39 necrobiosis lipoidica 10.0
40 granuloma annulare 9.9
41 neuropathy 9.9
42 pneumonia 9.9
43 scleroderma, familial progressive 9.9
44 myocarditis 9.9
45 lung disease 9.9
46 vasculitis 9.9
47 aneurysm 9.9
48 cerebritis 9.9
49 asthma 9.9
50 arthritis 9.9

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

Symptoms & Phenotypes for Sarcoidosis 2

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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:


coughing, snoring

Drugs & Therapeutics for Sarcoidosis 2

Search Clinical Trials , NIH Clinical Center for Sarcoidosis 2

Genetic Tests for Sarcoidosis 2

Genetic tests related to Sarcoidosis 2:

# Genetic test Affiliating Genes
1 Sarcoidosis 2 29 BTNL2

Anatomical Context for Sarcoidosis 2

MalaCards organs/tissues related to Sarcoidosis 2:

41
Lung, Skin, Liver, Eye, Spleen, Bone, Bone Marrow

Publications for Sarcoidosis 2

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

Variations for Sarcoidosis 2

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

Expression for Sarcoidosis 2

Search GEO for disease gene expression data for Sarcoidosis 2.

Pathways for Sarcoidosis 2

GO Terms for Sarcoidosis 2

Sources for Sarcoidosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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