Choroideremia malady

Genetics Home Reference: Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). In people with choroideremia, the vision impairments get progressively worse and ultimately lead to blindness (decreased visual acuity or field of vision), typically in late adulthood.¹⁷

MalaCards: Choroideremia, also known as progressive tapetochoroidal dystrophy, is related to choroiditis and retinitis. An important gene associated with Choroideremia is CHM (choroideremia (Rab escort protein 1)), and among its related pathways are Delta508-CFTR traffic / Sorting endosome formation in CF and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). The compounds GERANYLGERANYL DIPHOSPHATE and N-Formylmethionine have been mentioned in the context of this disorder. Affiliated tissues include retina and t cells, and related mouse phenotype pigmentation.

NIH Rare Diseases: Choroideremia is a genetic condition characterized by progressive vision loss that mainly affects males. Signs and symptoms of this condition include night blindness, progressive narrowing of the field of vision (tunnel vision), and a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells in the retina and choroid. The vision impairments get progressively worse and usually lead to blindness typically in late adulthood. Choroideremia is caused by mutations in the CHM gene and is inherited in an X-linked recessive pattern.³⁰

Wikipedia: Choroideremia (pron.: /kɒˌrɔɪdɨˈriːmi.ə/) is an X-linked recessive retinal degenerative disease...⁴⁴ more...

OMIM: 303100

GeneReviews summary for choroid

Aliases & Descriptions:

choroideremia 6 7 15 30 16 17 8 33 32 43 progressive tapetochoroidal dystrophy 30 17 tcd 30 17 central areolar choroidal sclerosis 43

progressive choroidal atrophy 6 choroidal sclerosis 17 chm 30

Diseases related to choroideremia by text searches and GeneDecks gene sharing:

(show all 35)

id	Related Disease	Score	Top Affiliating Genes
1	choroiditis	27.2	POU3F4, RAB1A, RAB3A, RAB27A, CHML, ABCA4
2	retinitis	26.9	ABCA4, RAB6A, RAB27A, RABGGTB, RABGGTA, CHM
3	retinal degeneration	25.5	CHM, AGFG1, ABCA4, RABGGTB, RABGGTA, ARSA
4	griscelli syndrome type 2	13.0	RAB27A, AGFG1
5	griscelli syndrome	12.7	AGFG1, RAB27A, RAB27B
6	hermansky-pudlak syndrome	12.7	RAB27A, RABGGTA, AGFG1
7	legionnaires' disease	12.6	RAB1A, RAB6A
8	x-linked nonsyndromic deafness	12.6	POU3F4, RPS6KA6
9	venezuelan equine encephalitis	12.1	RAB5A, RAB7A
10	malaria	9.6	RAB5A, RABGGTB, RAB27A, RAB6A, RAB27B, RAB1A
11	pigmentary retinopathy	7.1
12	ayazi syndrome	6.9
13	choroideremia hypopituitarism	6.9
14	parkinson's disease	6.7
15	x-linked disease	6.7
16	choroidal sclerosis	6.4
17	usher syndrome	6.4
18	usher syndrome type ii	6.4
19	blindness	6.2
20	choriocarcinoma	6.2
21	chorioretinitis	6.2
22	chorioretinal atrophy	6.2
23	eye disease	6.2
24	gestational trophoblastic neoplasm	6.2
25	night blindness	6.2
26	trophoblastic neoplasm	6.2
27	partial central choroid dystrophy	6.2
28	cerebritis	5.8
29	tic disorder	5.8
30	van den bosch syndrome	5.5
31	mental retardation syndrome	5.5
32	martin-probst deafness-mental retardation syndrome	5.5
33	hepatocellular carcinoma	5.3
34	cahmr syndrome	5.3
35	carcinoma	5.3

Clinical features from OMIM: 303100

Approved drugs:

Drug clinical trials:

Genetic tests related to choroideremia:

id	Genetic test	Affiliating Genes
1	Choroideremia clinical/research	CHM

MalaCards organs/tissues related to choroideremia:

²²

MGI Mouse Phenotypes related to choroideremia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	8.7	RAB27B, RAB27A, RABGGTA, CHM, ABCA4

Articles related to choroideremia:

(show top 50)    (show all 59)

id	Title	Authors	Year	Affiliating Genes
1	Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia. (22025891)	Lin Y.... Liu Y.	2011	CHM
2	Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. (21905166)	Esposito G.... Salvatore F.	2011	CHM
3	CHM gene molecular analysis and X-chromosome inactiva tion pattern determination in two families with choroideremia. (19764077)	Perez-Cano H.J.... Zenteno J.C.	2009	CHM
4	Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. (19597113)	Renner A.B.... Kellner U.	2009	CHM
5	Choroideremia: new findings from ocular pathology and review of recent literature. (19422966)	MacDonald I.M.... Chan C.C.	2009	CHM
6	Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. (19376587)	Preising M.N.... Lorenz B.	2009	CHM
7	Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia. (19117920)	Moosajee M.... Seabra M.C.	2009	CHM, CHML
8	Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. (18487380)	Poloschek C.M.... Berger W.	2008	CHM
9	A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings. (18773267)	Iino Y.... Murakami A.	2008	CHM
10	New type of mutations in three spanish families with choroideremia. (18385043)	Garcia-Hoyos M.... Ayuso C.	2008	CHM
11	Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. (17698759)	Mura M.... Iannaccone A.	2007	CHM
12	Choroideremia carriers maintain a normal electro-oculogram (EOG). (17333094)	Yau R.J.... MacDonald I.M.	2007	CHM
13	Novel truncating mutations of the CHM gene in Chinese patients with choroideremia. (18087237)	Yip S.P.... To C.H.	2007	CHM
14	Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. (16936131)	Jacobson S.G.... MacDonald I.M.	2006	CHM
15	Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. (16935340)	Renner A.B.... Foerster M.H.	2006	CHM
16	Spatial and temporal expression patterns of the choroideremia gene in the mouse retina. (16357828)	Keiser N.W.... Bennett J.	2005	CHM, CHML
17	Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. (16087855)	Francis P.J.... Weleber R.G.	2005	CHM
18	Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells. (14983050)	Starr C.J.... Hudspeth A.J.	2004	CHM
19	Clinical findings in a carrier of a new mutation in the choroideremia gene. (15465555)	Potter M.J.... McTaggart K.E.	2004	CHM
20	Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. (15186776)	Rak A.... Alexandrov K.	2004	RAB7A, CHM
21	Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. (12827496)	van den Hurk J.A.... Cremers F.P.	2003	CHM, AGFG1
22	Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene. (14566650)	Rudolph G.... Lorenz B.	2003	CHM
23	Macular pigment and lutein supplementation in choroideremia. (12014918)	Duncan J.L.... Jacobson S.G.	2002	CHM
24	Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. (11297488)	Syed N.... Milam A.H.	2001	CHM
25	Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease. (11489211)	Alory C.... Balch W.E.	2001	CHM
26	No missense mutation in choroideremia patients analyzed to date. (10420193)	Beaufrere L.... Tuffery S.	1999	CHM
27	Visual impairment and REP-1 gene mutations in Japanese choroideremia patients. (10420196)	Hayakawa M.... Ohashi H.	1999	CHM
28	REP-1 gene mutations in Japanese patients with choroideremia. (10447648)	Fujiki K.... Kanai A.	1999	CHM
29	Update on a diagnostic test for choroideremia: the protein truncation test (PTT) (9759428)	Beaufrere L.... Tuffery S.	1998	CHM
30	Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene. (9678418)	Beaufrere L.... Tuffery S.	1998	CHM
31	A practical diagnostic test for choroideremia. (9754170)	MacDonald I.M.... Seabra M.C.	1998	CHM
32	Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. (9175730)	van den Hurk J.A.... Cremers F.P.	1997	CHM
33	Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. (9067750)	van den Hurk J.A.... Cremers F.P.	1997	CHM
34	A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia. (9196401)	Forsythe P.... Bennett J.	1997	CHM
35	Rapid genetic diagnosis of females carriers related to patients with choroideremia (9499978)	Beaufrere L.... Claustres M.	1997	CHM
36	A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma. (9349950)	Hotta Y.... Kanai A.	1997	CHM
37	Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency. (8791255)	Matsuyama W.... Osame M.	1996	ARSA
38	Phenotype variations within a choroideremia family lacking the entire CHM gene. (8749050)	Ponjavic V.... Fex G.	1995	CHM
39	Cloning and characterization of the human choroideremia gene. (7981670)	van Bokhoven H.... Cremers F.P.	1994	CHM, CHML
40	REP-2, a Rab escort protein encoded by the choroideremia-like gene. (8294464)	Cremers F.P.M.... Goldstein J.L.	1994	RAB5A, RAB3A, CHM
41	Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. (8188272)	von Bokhoven H.... Ropers H.H.	1994	CHML
42	Missense mutation in the choroideremia gene. (7951216)	Donnelly P.... Pascal O.	1994	CHM
43	Identification of mutations in Danish choroideremia families. (8477262)	Schwartz M.... Cremers F.P.	1993	CHM
44	Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. (8380507)	Seabra M.C.... Goldstein J.L.	1993	CHM, RABGGTA, RABGGTB
45	Aberrant splicing of the CHM gene is a significant cause of choroideremia. (1302003)	Sankila E.M.... de la Chapelle A.	1992	CHM
46	Isolation of a candidate gene for choroideremia. (1549574)	Merry D.E.... Nussbaum R.L.	1992	CHM
47	Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. (1598901)	van den Hurk J.A.J.M.... Cremers F.P.M.	1992	CHM, RABGGTB
48	Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2. (1373238)	Molloy C.M.... Cremers F.P.	1992	CHM
49	An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. (1301160)	Cremers F.P.M.... Ropers H.-H.	1992	CHML
50	Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. (2220804)	Cremers F.P.... Wieringa B.	1990	CHM

Genes related to choroideremia according to GeneCards:

(show all 20)

id	Symbol	Description	Score	GeneCards Section Context
1	CHM	choroideremia (Rab escort protein 1)	11.1	Summaries, Orthologs, Aliases & Descriptions, Transcripts (show all 5 sections) Publications
2	CHML	choroideremia-like (Rab escort protein 2)	11.1	Orthologs, UniProt Related, Aliases & Descriptions, Transcripts (show all 5 sections) Publications
3	AGFG1	ArfGAP with FG repeats 1	11.0	Publications
4	DELXQ21	Choroideremia, deafness, and mental retardation	11.0	Aliases & Descriptions
5	RABGGTB	Rab geranylgeranyltransferase, beta subunit	11.0	Publications
6	RABGGTA	Rab geranylgeranyltransferase, alpha subunit	11.0	Publications
7	TSEN54	tRNA splicing endonuclease 54 homolog (S. cerevisiae)	11.0	Disorders
8	POU3F4	POU class 3 homeobox 4	11.0
9	RAB3A	RAB3A, member RAS oncogene family	11.0	Publications
10	DNAJB12	DnaJ (Hsp40) homolog, subfamily B, member 12	11.0
11	ARSA	arylsulfatase A	11.0	Publications
12	GDI1	GDP dissociation inhibitor 1	11.0
13	RAB1A	RAB1A, member RAS oncogene family	11.0	Publications
14	RAB5A	RAB5A, member RAS oncogene family	11.0	Publications
15	RAB27A	RAB27A, member RAS oncogene family	11.0	Publications
16	RAB27B	RAB27B, member RAS oncogene family	11.0
17	RAB7A	RAB7A, member RAS oncogene family	11.0	Publications
18	RAB6A	RAB6A, member RAS oncogene family	11.0	Publications
19	RPS6KA6	ribosomal protein S6 kinase, 90kDa, polypeptide 6	11.0	Disorders
20	ABCA4	ATP-binding cassette, sub-family A (ABC1), member 4	11.0

Pathways related to choroideremia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Delta508-CFTR traffic / Sorting endosome formation in CF41	9.6	RAB5A, RAB7A
2	wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)41	9.5	RAB27A, RAB7A
3	Clathrin-dependent protein traffic10	9.4	GDI1, RAB7A, RAB5A
4	wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)41	9.3	RAB7A, RAB5A, RAB27A
5	Normal wtCFTR traffic / Sorting endosome formation41	9.3	RAB5A, RAB7A
6	Transport_Clathrin-coated vesicle cycle41	9.2	GDI1, RAB7A, RAB5A
7	Cytoskeletal Signaling3	8.8	RAB7A, RAB5A, RAB3A, RAB6A
8	Epithelial Tight Junctions36	8.2	RAB6A, RAB1A, RAB27B, RAB3A, RAB27A, RAB5A

Compounds related to choroideremia according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	GERANYLGERANYL DIPHOSPHATE9 9	11.0	RABGGTB, RABGGTA
2	N-Formylmethionine9 9	11.0	RABGGTB, RABGGTA
3	FARNESYL9 9	11.0	RABGGTB, RABGGTA, CHM
4	farnesyl diphosphate32 9 9	11.9	AGFG1, RABGGTA, RABGGTB
5	geranylgeranyl pyrophosphate32	9.7	AGFG1, CHM, RAB7A
6	mannose 6-phosphate32 18	10.2	RAB5A, RAB7A, ARSA, AGFG1
7	n-ethylmaleimide32 9 9	11.0	RAB6A, RAB5A, AGFG1
8	gdp32	7.8	RAB6A, GDI1, AGFG1, CHM, RAB7A, RAB5A
9	lipid32	7.6	AGFG1, ABCA4, ARSA, CHM, RAB7A, RAB5A
10	gtp32	7.2	GDI1, AGFG1, ABCA4, CHM, RAB7A, RAB5A

Cellular components related to choroideremia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	Rab-protein geranylgeranyltransferase complex	GO:005968	10.1	CHM, CHML
2	multivesicular body membrane	GO:032585	9.3	RAB27B, RAB27A
3	melanosome	GO:042470	9.2	RAB27A, RAB5A, RAB7A
4	Golgi apparatus	GO:005794	7.8	AGFG1, RAB7A, RAB27A, RAB27B, RAB1A, RAB6A

Biological processes related to choroideremia according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	protein geranylgeranylation	GO:018344	9.8	RABGGTA, CHM
2	multivesicular body sorting pathway	GO:071985	9.6	RAB27B, RAB27A
3	positive regulation of exocytosis	GO:045921	9.3	RAB27B, RAB27A, RAB5A
4	visual perception	GO:007601	9.2	ABCA4, CHML, CHM, RABGGTA, RABGGTB
5	GTP catabolic process	GO:006184	8.6	RAB7A, RAB3A, RAB1A, RAB6A
6	protein transport	GO:015031	8.2	GDI1, RAB7A, RAB5A, RAB3A, RAB27B, RAB1A
7	small GTPase mediated signal transduction	GO:007264	7.3	RAB6A, GDI1, RAB7A, RAB5A, RAB27A, RAB3A

Molecular functions related to choroideremia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	GTPase activator activity	GO:005096	9.8	CHM, CHML, GDI1
2	Rab geranylgeranyltransferase activity	GO:004663	9.6	RABGGTB, RABGGTA, CHM, CHML
3	GTPase activity	GO:003924	7.4	RAB7A, RAB5A, RAB27A, RAB3A, RAB27B, RAB1A
4	GTP binding	GO:005525	7.2	RAB7A, RAB5A, RAB27A, RAB3A, RAB27B, RAB1A