Birdshot Chorioretinopathy malady

Wikipedia: Birdshot chorioretinopathy, also called birdshot retinochoroidopathy, is a rare form of bilateral...⁴⁴ more...

MalaCards: Birdshot Chorioretinopathy, also known as multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk, is related to aids, delayed/rapid progression to and guttate psoriasis. An important gene associated with Birdshot Chorioretinopathy is KIR2DS3 (killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3), and among its related pathways are CTL Mediated Apoptosis and Autoimmune thyroid disease. Affiliated tissues include retina.

birdshot chorioretinopathy 30 43 multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk 30

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Diseases related to birdshot chorioretinopathy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 71)

id	Related Disease	Score	Top Affiliating Genes
1	aids, delayed/rapid progression to	12.9	KIR3DS1, KIR3DL1
2	guttate psoriasis	12.7	KIR2DS1, HLA-C
3	systemic lupus erythematosus, association with	12.7	KIR3DS1, KIR2DS2
4	adult glioblastoma multiforme	12.5	HLA-C, HLA-A
5	pityriasis rosea	12.5	HLA-A, HLA-C
6	alveolar echinococcosis	12.5	HLA-C, HLA-A
7	htlv-1 associated myelopathy	12.5	HLA-A, HLA-C
8	coronary artery aneurysm	12.5	HLA-C, HLA-A
9	graft versus host disease	12.5	KIR3DL1, HLA-A
10	primary sclerosing cholangitis	12.5	HLA-C, HLA-A
11	neuromyelitis optica	12.5	HLA-A, HLA-C
12	peyronies disease	12.5	HLA-A, HLA-C
13	toxic epidermal necrolysis	12.4	HLA-C, HLA-A
14	autoimmune pancreatitis	12.4	HLA-A, HLA-C
15	oral submucous fibrosis	12.4	HLA-A, HLA-C
16	stevens-johnson syndrome	12.4	HLA-A, HLA-C
17	cutaneous lupus erythematosus	12.4	HLA-C, HLA-A
18	type 1 diabetes mellitus	12.4	KIR3DL1, KIR2DS2, KIR3DS1
19	echinococcosis	12.4	HLA-C, HLA-A
20	infectious mononucleosis	12.2	HLA-C, HLA-A
21	paroxysmal nocturnal hemoglobinuria	12.1	HLA-C, HLA-A, KIR2DS4
22	hemoglobinuria	12.1	HLA-A, HLA-C, KIR2DS4
23	cutaneous malignant melanoma	12.1	HLA-C, KIR2DS4, HLA-A
24	microscopic polyangiitis	12.0	KIR2DS3, KIR2DL1, KIR3DL1, KIR3DS1
25	idiopathic myopathy	12.0	HLA-C, HLA-A
26	sclerosing cholangitis	11.9	HLA-A, HLA-C, KIR3DL1
27	rheumatic pulmonary valve disease	11.9	HLA-A, HLA-C, KIR3DS1
28	cholangitis	11.9	HLA-C, KIR3DL1, HLA-A
29	cytomegalovirus infection	11.9	HLA-A, KIR3DL1, HLA-C
30	acquired immunodeficiency syndrome	11.8	KIR3DL1, HLA-C, HLA-A
31	cervical intraepithelial neoplasia	11.8	KIR2DS4, HLA-A, KIR2DL1, KIR3DL1
32	celiac disease	11.7	KIR3DL1, HLA-C, HLA-A
33	pre-eclampsia	11.6	HLA-C, KIR3DL1, HLA-A
34	ulcerative colitis	11.5	KIR3DL1, HLA-A, KIR2DS2, HLA-C
35	behcet's disease	11.4	KIR2DL1, KIR3DL1, HLA-C, HLA-A
36	eclampsia	11.2	HLA-C, KIR3DL1, HLA-A
37	diabetes mellitus	11.1	KIR3DL1, KIR3DS1, KIR2DS2, HLA-C, HLA-A
38	endometriosis	11.0	HLA-A, KIR3DL1, KIR2DL1, HLA-C, KIR3DS1
39	cervicitis	10.8	KIR2DS4, KIR2DL1, HLA-A, HLA-C, KIR3DL1
40	psoriatic arthritis	10.7	HLA-C, KIR2DL1, HLA-A, KIR2DS1, KIR3DL1, KIR2DS2
41	immunodeficiency	10.6	KIR3DL1, KIR3DS1, KIR2DL1, HLA-A, HLA-C
42	familial mediterranean fever	10.4	KIR2DS2, KIR3DS1, KIR2DS1, KIR3DL1, KIR2DS4, KIR2DS3
43	ankylosing spondylitis	9.6	KIR2DS1, KIR2DS4, KIR3DL1, KIR2DS2, KIR2DL1, KIR2DS3
44	spondylitis	9.6	KIR2DS1, KIR2DS4, KIR3DL1, KIR2DS2, KIR2DL1, HLA-C
45	spasticity	9.6	KIR2DS1, KIR2DS4, KIR3DL1, HLA-C, KIR2DL1, KIR2DS3
46	gastritis	9.6	KIR2DS1, KIR2DS4, KIR3DL1, KIR2DS2, HLA-C, KIR2DL1
47	sjogren's syndrome	9.6	KIR2DS1, KIR2DS4, KIR3DL1, KIR2DS2, HLA-C, KIR2DL1
48	spontaneous abortion	9.6	KIR2DS1, KIR2DS4, KIR3DL1, KIR2DS2, HLA-C, KIR2DL1
49	leptospirosis	9.6	KIR2DS1, KIR2DS4, KIR3DL1, KIR2DS2, HLA-C, KIR2DL1
50	uveitis	9.6	KIR2DS2, KIR3DS1, KIR2DS1, KIR3DL1, KIR2DS4, KIR2DS3

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to birdshot chorioretinopathy:

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Articles related to birdshot chorioretinopathy:

id	Title	Authors	Year	Affiliating Genes
1	Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals. (18340360)	Levinson R.D.... Rajalingam R.	2008	KIR3DL1, HLA-A, HLA-C

Genes related to birdshot chorioretinopathy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	KIR2DS3	killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3	11.0	Publications
2	KIR2DS2	killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2	11.0	Publications
3	KIR2DS1	killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1	11.0	Publications
4	KIR3DS1	killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1	11.0	Publications
5	KIR2DS4	killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4	11.0	Publications
6	KIR3DL1	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	11.0	Publications
7	KIR2DL1	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	11.0	Publications
8	HLA-C	major histocompatibility complex, class I, C	11.0	Publications
9	HLA-A	major histocompatibility complex, class I, A	11.0	Publications

Pathways related to birdshot chorioretinopathy according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	CTL Mediated Apoptosis36	9.1	HLA-A, HLA-C
2	Autoimmune thyroid disease20	9.1	HLA-C, HLA-A
3	Allograft rejection20	9.0	HLA-C, HLA-A
4	Type I diabetes mellitus20	8.8	HLA-A, HLA-C
5	Immune response_Role of DAP12 receptors in NK cells41	8.8	KIR2DL1, KIR2DS1, HLA-C
6	Graft-versus-host disease20	8.1	HLA-C, HLA-A, KIR3DL1, KIR2DL1
7	Immune response Role of DAP12 receptors in NK cells10	7.9	KIR3DL1, KIR2DS2, KIR2DS1, HLA-C, KIR2DL1
8	Antigen processing and presentation20	7.1	KIR2DS3, HLA-C, HLA-A, KIR2DS1, KIR3DL1, KIR2DS4
9	Natural killer cell mediated cytotoxicity20	7.0	KIR2DS1, HLA-A, HLA-C, KIR2DS4, KIR3DL1, KIR2DL1
10	Immune System38	6.6	KIR2DS1, KIR2DS2, KIR3DL1, KIR2DS4, KIR3DS1, KIR2DL1

Cellular components related to birdshot chorioretinopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	MHC class I protein complex	GO:042612	9.1	HLA-C, HLA-A
2	ER to Golgi transport vesicle membrane	GO:012507	9.1	HLA-C, HLA-A
3	integral to lumenal side of endoplasmic reticulum membrane	GO:071556	9.0	HLA-A, HLA-C
4	phagocytic vesicle membrane	GO:030670	8.8	HLA-C, HLA-A
5	integral to plasma membrane	GO:005887	6.9	KIR2DS3, HLA-C, HLA-A, KIR3DL1, KIR2DS4, KIR3DS1

Biological processes related to birdshot chorioretinopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	GO:002480	9.1	HLA-C, HLA-A
2	regulation of immune response	GO:050776	7.2	HLA-C, HLA-A, KIR2DS1, KIR2DS2, KIR3DL1, KIR2DL1
3	immune response	GO:006955	6.6	HLA-C, HLA-A, KIR2DS1, KIR2DS2, KIR3DL1, KIR3DS1

Molecular functions related to birdshot chorioretinopathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	MHC class I receptor activity	GO:032393	8.7	KIR3DS1, HLA-A, HLA-C