MCID: SRC025
MIFTS: 43

Sarcoidosis 1 malady

Genetic diseases, Rare diseases, Immune diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Endocrine diseases categories

Summaries for Sarcoidosis 1

About this section


OMIM:47 Sarcoidosis is a granulomatous disorder associated with an accumulation of CD4+ T cells and a Th1 immune response. In... (181000) more...

MalaCards based summary: Sarcoidosis 1, also known as sarcoidosis, is related to cardiac sarcoidosis and tuberculosis, and has symptoms including abnormality of the mouth, glaucoma and photophobia. An important gene associated with Sarcoidosis 1 is HLA-DRB1 (major histocompatibility complex, class II, DR beta 1). Affiliated tissues include lymph node, lung and skin.

Disease Ontology:10 A hypersensitivity reaction type iv disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.

NIH Rare Diseases:43 Sarcoidosis is an inflammatory disease characterized by the development and growth of tiny lumps of cells called granulomas. if these tiny granulomas grow and clump together in an organ, they can affect how the organ works, leading to the symptoms of sarcoidosis. the granulomas can be found in almost any part of the body, but occur more commonly in the lungs, lymph nodes, eyes, skin, and liver. although no one is sure what causes sarcoidosis, it is thought by most scientists to be a disorder of the immune system. the course of the disease varies from person to person. it often goes away on its own, but in some people symptoms of sarcoidosis may last a lifetime. for those who need treatment, anti-inflammatory medications can help. last updated: 3/30/2010

MedlinePlus:34 Sarcoidosis is a disease that leads to inflammation, usually in your lungs, skin, or lymph nodes. it starts as tiny, grain-like lumps, called granulomas. sarcoidosis can affect any organ in your body. no one is sure what causes sarcoidosis. it affects men and women of all ages and races. it occurs mostly in people ages 20 to 50, african americans, especially women, and people of northern european origin. many people have no symptoms. if you have symptoms, they may include cough shortness of breath weight loss night sweats fatigue tests to diagnose sarcoidosis include chest x-rays, lung function tests, and a biopsy. not everyone who has the disease needs treatment. if you do, prednisone, a type of steroid, is the main treatment. nih: national heart, lung, and blood institute

Aliases & Classifications for Sarcoidosis 1

About this section
Sources:
47OMIM, 10Disease Ontology, 43NIH Rare Diseases, 12DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 62UMLS, 11diseasecard, 29ICD9CM, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Sarcoidosis 1, Aliases & Descriptions:

Name: Sarcoidosis 1 47
Sarcoidosis 10 43 12 45 49 34 62
Besnier-Boeck-Schaumann Disease 43 49 62
Boeck Sarcoid 10 43 49
Boeck's Sarcoid 49 62
 
Sarcoidosis, Susceptibility to, 1 11
Lymphogranulomatosis 10
Schaumann's Disease 43
Sarcoid of Boeck 43
Boecks Sarcoid 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
sarcoidosis:
Inheritance: Multigenic/multifactorial; Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult


External Ids:

OMIM47 181000
Disease Ontology10 DOID:11335
ICD9CM29 135
NCIt40 C34995
MeSH35 D012507
SNOMED-CT57 31541009, 154425004
Orphanet49 797
MESH via Orphanet36 D012507
ICD10 via Orphanet28 D86.0, D86.1, D86.2 D86.3, D86.8, D86.9, more
UMLS via Orphanet63 C0036202
ICD1027 D86, D86.9

Related Diseases for Sarcoidosis 1

About this section

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



Diseases related to sarcoidosis 1

Symptoms for Sarcoidosis 1

About this section

Symptoms by clinical synopsis from OMIM:

181000

Clinical features from OMIM:

181000

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

About this section

Drug clinical trials:

Search ClinicalTrials for Sarcoidosis 1

Search NIH Clinical Center for Sarcoidosis 1

Genetic Tests for Sarcoidosis 1

About this section

Anatomical Context for Sarcoidosis 1

About this section

MalaCards organs/tissues related to Sarcoidosis 1:

33
Lymph node, Lung, Skin, Eye, Testes, Heart, Liver, T cells, Bone

Animal Models for Sarcoidosis 1 or affiliated genes

About this section

Publications for Sarcoidosis 1

About this section

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

About this section

Clinvar genetic disease variations for Sarcoidosis 1:

7
id Gene Variation 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

About this section

Search GEO for disease gene expression data for Sarcoidosis 1.

Pathways for genes affiliated with Sarcoidosis 1

About this section

Compounds for genes affiliated with Sarcoidosis 1

About this section

GO Terms for genes affiliated with Sarcoidosis 1

About this section

Products for genes affiliated with Sarcoidosis 1

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Sarcoidosis 1

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet