CHM
MCID: CHR081
MIFTS: 54

Choroideremia (CHM) malady

Eye category

Summaries for Choroideremia

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 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). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.

MalaCards: Choroideremia, also known as progressive tapetochoroidal dystrophy, is related to mental retardation and chorea-acanthocytosis, and has symptoms including anomalies of eyes and vision, retinitis pigmentosa/retinal pigmentary changes and night blindness/hemeralopia. An important gene associated with Choroideremia is CHM (choroideremia (Rab escort protein 1)), and among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Signaling events mediated by PRL. The compounds FARNESYL and geranylgeranyl diphosphate have been mentioned in the context of this disorder. Related mouse phenotype pigmentation.

NIH Rare Diseases:43 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. last updated: 4/22/2011

Wikipedia:64 Choroideremia /kɒˌrɔɪdɨˈriːmi.ə/ is an X-linked recessive retinal degenerative disease that... more...

Description from OMIM:47 303100

GeneReviews summary for choroid

Aliases & Classifications for Choroideremia

Sources:
21Genetics Home Reference, 8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 35MeSH, 27ICD9CM, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
choroideremia:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

choroideremia 8 9 19 43 20 22 21 47 10 45 49 61
progressive tapetochoroidal dystrophy 43 21
chm 43 49
tcd 43 21
central areolar choroidal sclerosis 61
chorea acanthocytosis syndrome 61
progressive choroidal atrophy 8
tapetochoroidal dystrophy 49
choreoacanthocytosis 19
choroidal sclerosis 21
chac 19


External Ids:

Disease Ontology8 DOID:9821
NCIt40 C34469
MeSH35 D015794
ICD9CM27 363.55
OMIM47 303100
SNOMED-CT57 75241009
MESH via Orphanet36 D015794
ICD10 via Orphanet26 H31.2
SNOMED-CT via Orphanet58 75241009
UMLS via Orphanet62 C0008525

Related Diseases for Choroideremia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Choroideremia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.4GDI1, AGFG1
2chorea-acanthocytosis10.6
3retinitis pigmentosa10.4
4sickle cell anemia10.4
5acanthocytosis10.3
6curly hair-acral keratoderma-caries syndrome10.3
7chorea10.3
8gestational trophoblastic neoplasm10.3
9ayazi syndrome10.3
10choroideremia hypopituitarism10.3
11choroiditis10.3
12parkinson's disease10.2
13hydatidiform mole, recurrent, 210.2
14carotid stenosis10.2
15choreoacanthocytosis amyotrophic10.2
16usher syndrome10.2
17choriodal dystrophy, central areolar 210.2
18trophoblastic neoplasm10.1
19deafness, x-linked 210.1
20van den bosch syndrome10.1
21choroideremia, deafness, and mental retardation10.1
22carotid artery dissection10.0
23levine-critchley syndrome10.0
24atrial septal aneurysm10.0
25pseudoxanthoma elasticum10.0
26localized scleroderma10.0
27legionnaires' disease10.0RAB1A
28hermansky-pudlak syndrome10.0AGFG1
29griscelli syndrome type 210.0RAB27A, AGFG1
30x-linked nonsyndromic deafness10.0RPS6KA6
31retinal degeneration10.0RPE65, AGFG1, CHM, RAB6A
32charcot-marie-tooth disease type 310.0
33charcot-marie-tooth disease type 1b10.0
34charcot-marie-tooth disease type 2i10.0
35charcot-marie-tooth disease type 2j10.0
36charcot-marie-tooth disease type 4e10.0
37charcot-marie-tooth disease, dominant intermediate d10.0
38pulmonary function10.0
39stargardt disease9.9
40gyrate atrophy9.9
41laurence-moon syndrome9.9
42bardet-biedl syndrome9.9
43cystoid macular edema9.9
44posterior polar cataract9.9
45blau syndrome9.9
46polydactyly9.9
47focal dermal hypoplasia9.9
48kearns-sayre syndrome9.9
49n syndrome9.9
50uveitis9.9

Graphical network of the top 20 diseases related to Choroideremia:



Diseases related to choroideremia

Clinical Features for Choroideremia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

303100

Clinical synopsis from OMIM:

303100

Symptoms:

49 (show all 8)
  • anomalies of eyes and vision
  • retinitis pigmentosa/retinal pigmentary changes
  • night blindness/hemeralopia
  • mild visual loss/impaired visual acuity
  • myopia
  • abnormal erg/electroretinogram/electroretinography
  • x-linked recessive inheritance
  • visual loss/blindness/amblyopia

Drugs & Therapeutics for Choroideremia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Choroideremia

Drug clinical trials:

Search ClinicalTrials for Choroideremia

Search NIH Clinical Center for Choroideremia

Search CenterWatch for Choroideremia

Genetic Tests for Choroideremia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Choroideremia:

id Genetic test Affiliating Genes
1 Choroideremia20 22 CHM

Anatomical Context for Choroideremia

Animal Models for Choroideremia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Choroideremia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3RAB27A, RAB27B, RABGGTA, CHM, RPE65

Publications for Choroideremia

Sources:
51PubMed
See all sources

Articles related to Choroideremia:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Rab GTPase Prenylation Hierarchy and Its Potential Role in Choroideremia Disease. (24358126)
2013
2
Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium. (23460904)
2013
3
"Is a cure in my sight?" Multi-stakeholder perspectives on phase I choroideremia gene transfer clinical trials. (24071795)
2013
4
Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo. (23756766)
2013
5
An internet-based health survey on the co-morbidities of choroideremia patients. (23297843)
2013
6
CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice. (22228595)
2012
7
Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants. (20861657)
2011
8
Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. (19597113)
2009
9
Lines of Blaschko and choroideremia. (19410966)
2009
10
Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia. (19117920)
2009
11
Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing. (18201765)
2008
12
Choroideremia: analysis of the retina from a female symptomatic carrier. (18766988)
2008
13
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. (16936131)
2006
14
Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. (16087855)
2005
15
Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene. (15579993)
2004
16
A case of choroideremia with recurrent anterior uveitis. (12882509)
2003
17
Mutational analysis of patients with the diagnosis of choroideremia. (12203991)
2002
18
Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease. (11489211)
2001
19
No missense mutation in choroideremia patients analyzed to date. (10420193)
1999
20
A 3-base pair insertional mutation in the choroideremia gene. (9452034)
1998
21
The protein truncation test (PTT) as a method of detection for choroideremia mutations. (9441709)
1997
22
Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency. (8791255)
1996
23
New insights into the pathogenesis of choroideremia: a tale of two REPs. (8832719)
1996
24
Human choroideremia protein contains a FAD-binding domain. (8589712)
1996
25
A novel mutation (S558X) causing choroideremia. (8956058)
1996
26
Phenotype variations within a choroideremia family lacking the entire CHM gene. (8749050)
1995
27
Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation. (8528669)
1995
28
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. (7981671)
1994
29
Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2. (7987344)
1994
30
Identification of mutations in Danish choroideremia families. (8477262)
1993
31
Choroideremia (20301511)
1993
32
Aberrant splicing of the CHM gene is a significant cause of choroideremia. (1302003)
1992
33
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. (1598901)
1992
34
Prenatal exclusion of choroideremia. (1362326)
1992
35
Haplotype and multipoint linkage analysis in Finnish choroideremia families. (2575071)
1989
36
Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. (2883887)
1987
37
Linkage relationships of X-linked choroideremia to DXYS1 and DXS3. (2890569)
1987
38
The relation of rhodopsin and scotopic sensitivity in choroideremia. (3674186)
1987
39
Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. (2878872)
1986
40
Choroideremia in interstitial deletion of the X chromosome. (2882458)
1986
41
Choroideremia: a clinical, electron microscopic, and biochemical report. (6089068)
1984
42
Pathological findings from two cases of choroideremia. (6969107)
1980
43
Choroideremia. (5173143)
1971
44
Choroideremia: a clinical and pathologic review. (5381297)
1969
45
Choroideremia. Visual defects in a heterozygote. (5302677)
1968
46
Cases of retinitis pigmentosa and choroideremia treated with intermedin. (13360947)
1955
47
Choroideremia, its inheritance in a family. (13136407)
1952
48
Choroideremia. (13012548)
1952
49
Choroideremia. A report of three cases in three generations. (14821277)
1951
50
Choroideremia; report of a case. (20248987)
1947

Genetic Variations for Choroideremia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Choroideremia:

63
id Symbol AA change Variation SNP ID
1CHMp.Gln471LeuVAR_008273
2CHMp.His507ArgVAR_066847
3CHMp.Leu550ProVAR_066848

Expression for genes affiliated with Choroideremia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Choroideremia

Search GEO for disease gene expression data for Choroideremia.

Pathways for genes affiliated with Choroideremia

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology, 52QIAGEN
See all sources

Pathways related to Choroideremia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
10.0RAB27A, RAB7A
210.0RABGGTA, RABGGTB
39.9RAB27B, RAB27A
4
Normal wtCFTR traffic / Sorting endosome formation
9.8RAB7A, RAB5A
59.4GDI1, RAB5A, RAB7A, RAB27A
69.0RAB5A, RAB6A, RAB3A, RAB7A
7
Hide members
8.2RAB27A, RAB27B, RAB1A, RAB3A, RAB6A, RAB5A

Compounds for genes affiliated with Choroideremia

Sources:
11DrugBank, 29IUPHAR, 45Novoseek, 24HMDB
See all sources

Compounds related to Choroideremia according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1FARNESYL1110.0CHM, RABGGTA, RABGGTB
2geranylgeranyl diphosphate29 1111.0RABGGTB, RABGGTA
3geranylgeranyl pyrophosphate4510.0CHM, RAB7A, AGFG1
4phosphatidylinositol 3-phosphate459.8RAB5A, RAB7A
5farnesyl diphosphate45 29 1111.8RABGGTA, AGFG1, RABGGTB
6N-Formylmethionine119.7RABGGTA, RABGGTB
7mannose 6-phosphate45 2410.5ARSA, RAB7A, RAB5A, AGFG1
8n-ethylmaleimide45 1110.2RAB6A, RAB5A, AGFG1
9lipid458.5RAB7A, RAB6A, RPE65, ARSA, AGFG1, RAB5A
10gdp458.3RAB3A, RAB5A, GDI1, CHM, AGFG1, RAB6A
11gtp45 299.3GDI1, AGFG1, RAB5A, RAB6A, RAB3A, RAB7A

GO Terms for genes affiliated with Choroideremia

Sources:
16Gene Ontology
See all sources

Cellular components related to Choroideremia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rab-protein geranylgeranyltransferase complexGO:00596810.0CHM, CHML
2melanosomeGO:0424709.6RAB27A, RAB7A, RAB5A
3multivesicular body membraneGO:0325859.6RAB27A, RAB27B

Biological processes related to Choroideremia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1multivesicular body sorting pathwayGO:0719859.9RAB27A, RAB27B
2protein geranylgeranylationGO:0183449.8RABGGTA, CHM
3positive regulation of exocytosisGO:0459219.5RAB5A, RAB27B, RAB27A
4visual perceptionGO:0076019.3RPE65, CHML, CHM, RABGGTB, RABGGTA
5GTP catabolic processGO:0061848.7RAB7A, RAB1A, RAB3A, RAB6A, RAB5A
6protein transportGO:0150318.5RAB7A, RAB27B, RAB1A, RAB3A, RAB5A, GDI1
7small GTPase mediated signal transductionGO:0072647.9RAB27A, GDI1, RAB5A, RAB6A, RAB3A, RAB1A

Molecular functions related to Choroideremia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rab geranylgeranyltransferase activityGO:0046639.6RABGGTA, RABGGTB, CHM, CHML
2GTPase activator activityGO:0050969.5GDI1, CHM, CHML
3protein domain specific bindingGO:0199049.4RAB27A, RAB27B, RAB6A
4GDP bindingGO:0190039.1RAB5A, RAB27B, RAB7A, RAB27A
5GTPase activityGO:0039248.0RAB5A, RAB6A, RAB3A, RAB1A, RAB27B, RAB7A
6GTP bindingGO:0055258.0RAB5A, RAB6A, RAB3A, RAB1A, RAB27B, RAB7A

Products for genes affiliated with Choroideremia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Choroideremia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet