Sarcoidosis 1 (SS1)

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OMIM 57 181000 Disease Ontology 12 DOID:11335 ICD10 33 D80-D89 D86 D86.9 ICD9CM 35 135 MeSH 44 D012507 NCIt 50 C34995 SNOMED-CT 68 31541009

Orphanet 59 ORPHA797 ICD10 via Orphanet 34 D86.0 D86.1 D86.9 D86.2 D86.3 D86.8 more MESH via Orphanet 45 D012507 UMLS via Orphanet 74 C0036202 MedGen 42 C2697310 CN034668 SNOMED-CT via HPO 69 236423003 42399005 48638002 23986001 128306009 193570009 247053007 128473001 246622003 409668002 65956007 85777005 111516008 246636008 40930008 30171000 34486009 15771004 4830009 49765009 18655006 201284005 23006000 89031001 77971008 302896008 363677007 46152009 82108004 3723001 271771009 59927004 34742003 95325000 278040002 56317004 16294009 161832001 262285001 89362005 302215000 415116008 127034005 61261009 84828003 386661006 50177009 28689008 428255004 24526004 302168000 79890006 386689009 230145002 267036007 87433001 66857006 6686005 36118008 12295008 71938000 51615001 80515008 30746006 166702002 66931009 165468009 249939004 25569003 233703007 274741002 302226006 386033004 42658009 193982009 418035005 10890000 83035003 193093009 95666008 127388009 129646001 119292006 25374005 53619000 29748005 111288001 14756005 23412002 112643007 203465002 203467005 66954000 203468000 76000001 32861005 248274002 84229001 46627006 233916004 263731006 272039006 49727002 30261008 247471006 47725002 48677004 29857009 128177006 276322001 more UMLS 73 C0036202 C0019829

NIH Rare Diseases : ⁵³ 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 the organ's structure and function. Overtime, this can lead to permanent scarring or thickening of the organ tissue (also called fibrosis). Although the granulomas can be found in almost any part of the body, they occur most commonly in the lungs and lymph nodes. Signs and symptoms of sarcoidosis vary based on the location of the granulomas and the severity of the condition. The exact cause of sarcoidosis is poorly understood. In many cases, treatment is not necessary and sarcoidosis will resolve on its own. However, therapies such as corticosteroids, immunosuppressants, and antimalarial drugs, are available to control symptoms, prevent complications, and improve outcomes.

MalaCards based summary : Sarcoidosis 1, also known as sarcoidosis, is related to skin sarcoidosis and melkersson-rosenthal syndrome, and has symptoms including snoring and coughing. An important gene associated with Sarcoidosis 1 is HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. Affiliated tissues include lung, skin and lymph node, and related phenotypes are hypothyroidism and hypothermia

Disease Ontology : ¹² A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.

MedlinePlus : ⁴³ 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

UniProtKB/Swiss-Prot : ⁷⁵ Sarcoidosis 1: 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.

PubMed Health : ⁶³ About sarcoidosis: Sarcoidosis (sar-koy-DO-sis) is a disease of unknown cause that leads to inflammation. This disease affects your body’s organs.Normally, your immune system defends your body against foreign or harmful substances. For example, it sends special cells to protect organs that are in danger.These cells release chemicals that recruit other cells to isolate and destroy the harmful substance. Inflammation occurs during this process. Once the harmful substance is gone, the cells and the inflammation go away.In people who have sarcoidosis, the inflammation doesn't go away. Instead, some of the immune system cells cluster to form lumps called granulomas (gran-yu-LO-mas) in various organs in your body.

Wikipedia : ⁷⁶ Sarcoidosis is a disease involving abnormal collections of inflammatory cells that form lumps known as... more...

Description from OMIM: 181000

Clinical features from OMIM:

181000

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.88	ACE IL18 IL2 IL2RA LTA NOD2
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.88	ACE IL18 IL2 IL2RA LTA NOD2

Not everyone who has sarcoidosis needs treatment. Sometimes the disease goes away on its own. Whether you need treatment and what type of treatment you need depend on your signs and symptoms, which organs are affected, and whether those organs are working well.If the disease affects certain organs—such as your eyes, heart, or brain—you'll need treatment even if you don't have any symptoms.In either case, whether you have symptoms or not, you should see your doctor for ongoing care. He or she will want to check to make sure that the disease isn't damaging your organs. For example, you may need routine lung function tests to make sure that your lungs are working well.If the disease isn't worsening, your doctor may watch you closely to see whether the disease goes away on its own. If the disease does start to get worse, your doctor can prescribe treatment.The goals of treatment include:Relieving symptomsImproving organ functionControlling inflammation and reducing the size of granulomas (inflamed lumps)Preventing pulmonary fibrosis (lung scarring) if your lungs are affectedYour doctor may prescribe topical treatments and/or medicines to treat the disease.

Search Clinical Trials , NIH Clinical Center for Sarcoidosis 1

carmustine chlorambucil cisplatin cisplatin pwdr cyclophosphamide dacarbazine ifosfamide lomustine mechlorethamine mechlorethamine hydrochloride

pembrolizumab procarbazine procarbazine hydrochloride sargramostim vinblastine vinblastine sulfate vincristine vincristine sulfate vinorelbine vinorelbine tartrate

Search GEO for disease gene expression data for Sarcoidosis 1.