MCID: SRC025
MIFTS: 36

Sarcoidosis 1 malady

Neuronal diseases, Eye diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Rare diseases, Immune diseases categories
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Summaries for Sarcoidosis 1

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MalaCards based summary: Sarcoidosis 1, also known as besnier-boeck-schaumann disease, is related to sarcoidosis and cardiac sarcoidosis, and has symptoms including An important gene associated with Sarcoidosis 1 is HLA-DRB1 (major histocompatibility complex, class II, DR beta 1). Affiliated tissues include eye, lymph node and lung.

Descriptions from OMIM:46 181000,612387,612388

Aliases & Classifications for Sarcoidosis 1

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Sources:
46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Sarcoidosis 1, Aliases & Descriptions:

Name: Sarcoidosis 1 46
Besnier-Boeck-Schaumann Disease 48 62
Boeck's Sarcoid 48 62
 
Sarcoidosis 48 62
Boeck Sarcoid 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
besnier-boeck-schaumann disease:
Inheritance: Multigenic/multifactorial; Prevalence: 1-5/10000; Age of onset: Adulthood


External Ids:

MESH via Orphanet35 D012507
ICD10 via Orphanet26 D86.0, D86.1, D86.2 D86.3, D86.8, D86.9, more
UMLS via Orphanet63 C0036202

Related Diseases for Sarcoidosis 1

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Graphical network of the top 20 diseases related to Sarcoidosis 1:



Diseases related to sarcoidosis 1

Symptoms for Sarcoidosis 1

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Symptoms by clinical synopsis from OMIM:

181000

Clinical features from OMIM:

181000,612387,612388

HPO human phenotypes related to Sarcoidosis 1:

(show all 24)
id Description Frequency HPO Source Accession
1 abnormality of the mouth HP:0000153
2 glaucoma HP:0000501
3 photophobia HP:0000613
4 blurred vision HP:0000622
5 iridocyclitis HP:0001094
6 optic neuropathy HP:0001138
7 arthritis HP:0001369
8 splenomegaly HP:0001744
9 weight loss HP:0001824
10 pancytopenia HP:0001876
11 fever HP:0001945
12 inflammation of the large intestine HP:0002037
13 anorexia HP:0002039
14 dyspnea HP:0002094
15 hypercalciuria HP:0002150
16 hepatomegaly HP:0002240
17 elevated erythrocyte sedimentation rate HP:0003565
18 exaggerated cellular immune processes HP:0005397
19 interstitial pulmonary disease HP:0006530
20 enlarged lacrimal glands HP:0007734
21 generalized lymphadenopathy HP:0008940
22 hypergammaglobulinemia HP:0010702
23 bone cyst HP:0012062
24 cough HP:0012735

Drugs & Therapeutics for Sarcoidosis 1

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Drug clinical trials:

Search ClinicalTrials for Sarcoidosis 1

Search NIH Clinical Center for Sarcoidosis 1

Genetic Tests for Sarcoidosis 1

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Anatomical Context for Sarcoidosis 1

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MalaCards organs/tissues related to Sarcoidosis 1:

32
Eye, Lymph node, Lung, Skin, T cells, Bone

Animal Models for Sarcoidosis 1 or affiliated genes

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Publications for Sarcoidosis 1

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Articles related to Sarcoidosis 1:

idTitleAuthorsYear
1
Sarcoidosis. 1. (5059500)
1972
2
Pulmonary sarcoidosis. 1. Pathophysiologic correlations. (5649858)
1968
3
Sarcoidosis. 1. Ultrastructural investigations on epithelioid cell granulomas. (5955900)
1966

Variations for Sarcoidosis 1

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Clinvar genetic disease variations for Sarcoidosis 1:

6
id Gene Name Type Significance SNP ID Assembly Location
1HLA-DRB1HLA-DRB1, HLA-DRB1*1101undetermined variantrisk factor
2BTNL2BTNL2, IVS5, G-A, -1single nucleotide variantrisk factor

Expression for genes affiliated with Sarcoidosis 1

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Expression patterns in normal tissues for genes affiliated with Sarcoidosis 1

Search GEO for disease gene expression data for Sarcoidosis 1.

Pathways for genes affiliated with Sarcoidosis 1

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Compounds for genes affiliated with Sarcoidosis 1

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GO Terms for genes affiliated with Sarcoidosis 1

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Products for genes affiliated with Sarcoidosis 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Sarcoidosis 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet