MCID: SRC025
MIFTS: 44

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:45 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). The drugs carmustine and cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include lymph node, lung and skin.

Disease Ontology:9 A hypersensitivity reaction type iv disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.

NIH Rare Diseases:41 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:32 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:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 32MedlinePlus, 60UMLS, 27ICD9CM, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Sarcoidosis 1, Aliases & Descriptions:

Name: Sarcoidosis 1 45
Sarcoidosis 9 41 11 43 47 32 60
Boeck Sarcoid 9 41 47
Besnier-Boeck-Schaumann Disease 41 47
Sarcoidosis, Susceptibility to, 1 10
Lymphogranulomatosis 9
 
Schaumann's Disease 41
Sarcoid of Boeck 41
Boeck's Sarcoid 47
Hodgkin Disease 60
Boecks Sarcoid 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
sarcoidosis:
Inheritance: Multigenic/multifactorial; Prevalence: 1-5/10000 (Worldwide),1-5/10000 (Europe); Age of onset: Adult


External Ids:

OMIM45 181000
Disease Ontology9 DOID:11335
ICD9CM27 135
NCIt38 C34995
MeSH33 D012507
SNOMED-CT55 31541009, 154425004
Orphanet47 797
MESH via Orphanet34 D012507
ICD10 via Orphanet26 D86.0, D86.1, D86.2 D86.3, D86.8, D86.9, more
UMLS via Orphanet61 C0036202
ICD1025 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

Genetic Tests for Sarcoidosis 1

About this section

Anatomical Context for Sarcoidosis 1

About this section

MalaCards organs/tissues related to Sarcoidosis 1:

31
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:

6
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
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet