Sarcoidosis 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases Respiratory diseases Bone diseases Immune diseases Nephrological diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 612387

MedGen ⁴² C2676468

MeSH ⁴⁴ D012507

SNOMED-CT via HPO ⁶⁹ 233703007 193093009 95666008

UMLS ⁷³ C0036202

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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 snoring and coughing. An important gene associated with Sarcoidosis 2 is BTNL2 (Butyrophilin Like 2). Affiliated tissues include lung, eye and skin, and related phenotypes are facial palsy and interstitial pulmonary abnormality

Description from OMIM: 612387

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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 705)

#	Related Disease	Score
1	sarcoidosis 1	12.9
2	pulmonary sarcoidosis	12.6
3	skin sarcoidosis	12.4
4	cardiac sarcoidosis	12.3
5	blau syndrome	12.2
6	cerebral sarcoidosis	12.2
7	hypercalcemic sarcoidosis	12.2
8	sarcoidosis 3	12.1
9	neurosarcoidosis	11.7
10	melkersson-rosenthal syndrome	11.5
11	pars planitis	11.4
12	beryllium disease	11.3
13	progressive multifocal leukoencephalopathy	11.3
14	interstitial lung disease	11.3
15	retinal vasculitis	11.3
16	uveoparotid fever	11.3
17	intermediate uveitis	11.3
18	orofacial granulomatosis	11.1
19	sarcoid meningitis	11.0
20	primary cutaneous amyloidosis	11.0
21	rickets	11.0
22	erythema nodosum, idiopathic	11.0
23	granulomatous lobular mastitis	11.0
24	idiopathic hypertrophic pachymeningitis	11.0
25	granulomatous mastitis	11.0
26	lymphoma	10.3
27	uveitis	10.3
28	pulmonary fibrosis	10.3
29	pulmonary fibrosis, idiopathic	10.2
30	extrinsic allergic alveolitis	10.2
31	hepatitis	10.2
32	pulmonary hypertension	10.2
33	splenomegaly	10.2
34	atrioventricular block	10.2
35	arthritis	10.1
36	hepatitis c	10.1
37	lung disease	10.1
38	lupus erythematosus	10.1
39	scleroderma, familial progressive	10.1
40	interstitial nephritis	10.1
41	myocarditis	10.1
42	granuloma annulare	10.1
43	neuropathy	10.1
44	necrobiosis lipoidica	10.1
45	pulmonary tuberculosis	10.1
46	rheumatoid arthritis	10.0
47	vasculitis	10.0
48	pneumonia	10.0
49	erythermalgia, primary	10.0
50	systemic lupus erythematosus	10.0

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:

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Symptoms & Phenotypes for Sarcoidosis 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Abdomen Spleen:
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

Human phenotypes related to Sarcoidosis 2:

³²

#	Description	HPO Frequency	HPO Source Accession
1	facial palsy ³²		HP:0010628
2	interstitial pulmonary abnormality ³²		HP:0006530

UMLS symptoms related to Sarcoidosis 2:

snoring, coughing

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Drugs & Therapeutics for Sarcoidosis 2

Search Clinical Trials , NIH Clinical Center for Sarcoidosis 2

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Genetic Tests for Sarcoidosis 2

Genetic tests related to Sarcoidosis 2:

#	Genetic test	Affiliating Genes
1	Sarcoidosis 2 ²⁹	BTNL2

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Anatomical Context for Sarcoidosis 2

MalaCards organs/tissues related to Sarcoidosis 2:

⁴¹

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

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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 )	HA1bener E....Scharkoff T.	1986
3	Sarcoidosis. 2. Management of sarcoidosis. ( 5008018 )	James D.G.	1972

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Genes for Sarcoidosis 2

Genes related to Sarcoidosis 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BTNL2	Butyrophilin Like 2	Protein Coding	701.48	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ GeneCards inferred via : Disorders Variants (show sections)
2	TSBP1-AS1	TSBP1 And BTNL2 Antisense RNA 1	RNA Gene	7.19	GeneCards inferred via : Variants (show sections)

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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

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Expression for Sarcoidosis 2

Search GEO for disease gene expression data for Sarcoidosis 2.

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Pathways for Sarcoidosis 2

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GO Terms for Sarcoidosis 2

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Sources for Sarcoidosis 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Sarcoidosis 2 (SS2)

Aliases & Classifications for Sarcoidosis 2

MalaCards integrated aliases for Sarcoidosis 2:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Sarcoidosis 2

Related Diseases for Sarcoidosis 2

Diseases in the Sarcoidosis 1 family:

Diseases related to Sarcoidosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Comorbidity relations with Sarcoidosis 2 via Phenotypic Disease Network (PDN):

Graphical network of the top 20 diseases related to Sarcoidosis 2:

Symptoms & Phenotypes for Sarcoidosis 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Sarcoidosis 2:

UMLS symptoms related to Sarcoidosis 2:

Drugs & Therapeutics for Sarcoidosis 2

Genetic Tests for Sarcoidosis 2

Genetic tests related to Sarcoidosis 2:

Anatomical Context for Sarcoidosis 2

MalaCards organs/tissues related to Sarcoidosis 2:

Publications for Sarcoidosis 2

Articles related to Sarcoidosis 2:

Genes for Sarcoidosis 2

Genes related to Sarcoidosis 2 (1 elite genes):

Variations for Sarcoidosis 2

ClinVar genetic disease variations for Sarcoidosis 2:

Expression for Sarcoidosis 2

Pathways for Sarcoidosis 2

GO Terms for Sarcoidosis 2

Sources for Sarcoidosis 2