CHM
MCID: CHR081
MIFTS: 63

Choroideremia (CHM) malady

Eye diseases category

Summaries for Choroideremia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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 retinal degeneration and mental retardation, and has symptoms including myopia, night blindness/hemeralopia and x-linked recessive inheritance. 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. Affiliated tissues include eye, retina and testes, and related mouse phenotype pigmentation.

NIH Rare Diseases:42 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:63 Choroideremia /kɒˌrɔɪdɨˈriːmi.ə/ is an X-linked recessive retinal degenerative disease that... more...

Description from OMIM:46 303100

GeneReviews summary for choroid

Aliases & Classifications for Choroideremia

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 34MeSH, 27ICD9CM, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 22 21 46 10 44 48 60
progressive tapetochoroidal dystrophy 42 21
chm 42 48
tcd 42 21
central areolar choroidal sclerosis 60
chorea acanthocytosis syndrome 60
progressive choroidal atrophy 8
tapetochoroidal dystrophy 48
choroidal sclerosis 21


External Ids:

Disease Ontology8 DOID:9821
NCIt39 C34469
MeSH34 D015794
ICD9CM27 363.55
OMIM46 303100
SNOMED-CT56 75241009
MESH via Orphanet35 D015794
ICD10 via Orphanet26 H31.2
SNOMED-CT via Orphanet57 75241009
UMLS via Orphanet61 C0008525

Related Diseases for Choroideremia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Choroideremia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1retinal degeneration30.2RPE65, AGFG1, CHM, RAB6A
2mental retardation30.0GDI1, AGFG1
3retinitis10.6
4retinitis pigmentosa10.3
5sickle cell anemia10.3
6gestational trophoblastic neoplasm10.3
7ayazi syndrome10.2
8chorea-acanthocytosis10.2
9neuroacanthocytosis10.2
10curly hair-acral keratoderma-caries syndrome10.2
11levine-critchley syndrome10.2
12parkinson's disease10.1
13hydatidiform mole, recurrent, 210.1
14choroiditis10.1
15usher syndrome10.1
16choroideremia hypopituitarism10.1
17choriodal dystrophy, central areolar 210.1
18carotid stenosis10.1
19eye disease10.1
20trophoblastic neoplasm10.1
21pigmentary retinopathy10.1
22blindness10.1
23macular holes10.0
24hypopituitarism10.0
25deafness, x-linked 210.0
26van den bosch syndrome10.0
27choroideremia, deafness, and mental retardation10.0
28pseudoxanthoma elasticum10.0
29localized scleroderma10.0
30partial central choroid dystrophy10.0
31scleroderma10.0
32legionnaires' disease10.0RAB1A
33hermansky-pudlak syndrome10.0AGFG1
34griscelli syndrome type 210.0RAB27A, AGFG1
35x-linked nonsyndromic deafness10.0RPS6KA6
36migraine without aura10.0
37cerebritis10.0
38carotid artery dissection10.0
39carotid artery disease10.0
40cerebrovascular disease10.0
41migraine10.0
42charcot-marie-tooth disease type 39.9
43charcot-marie-tooth disease9.9
44choriocarcinoma9.9
45malaria9.9
46multiple myeloma9.9
47myeloma9.9
48pneumonia9.9
49charcot-marie-tooth disease type 1b9.9
50charcot-marie-tooth disease type 2i9.9

Graphical network of the top 20 diseases related to Choroideremia:



Diseases related to choroideremia

Clinical Features for Choroideremia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

303100

Clinical synopsis from OMIM:

303100

Symptoms:

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

Drugs & Therapeutics for Choroideremia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Choroideremia:

id Genetic test Affiliating Genes
1 Choroideremia20 22 CHM

Anatomical Context for Choroideremia

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32MalaCards
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MalaCards organs/tissues related to Choroideremia:

32
Eye, Retina, Testes, Pituitary, Monocytes, Brain

Animal Models for Choroideremia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Choroideremia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3RAB27A, RAB27B, RABGGTA, CHM, RPE65

Publications for Choroideremia

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Sources:
50PubMed
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Articles related to Choroideremia:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Choroideremia: a review of general findings and pathogenesis. (22017263)
2012
2
Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia. (22355242)
2012
3
Topical dorzolamide for treatment of cystoid macular edema in patients with choroideremia. (21886018)
2012
4
Cystic macular oedema on spectral-domain optical coherence tomography in choroideremia patients without cystic changes on fundus examination. (20966974)
2011
5
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
6
Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia. (19117920)
2009
7
Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism. (18978655)
2008
8
Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing. (18201765)
2008
9
Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia. (17360570)
2007
10
Choroideremia carriers maintain a normal electro-oculogram (EOG). (17333094)
2007
11
Choroideremia is caused by a defective phagocytosis by the RPE of photoreceptor disc membranes, not by an intrinsic photoreceptor defect. (17896320)
2007
12
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. (16935340)
2006
13
Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells. (14983050)
2004
14
Detection of localized retinal dysfunction in a choroideremia carrier. (14700671)
2004
15
Clinical diagnoses that overlap with choroideremia. (12956277)
2003
16
A case of choroideremia with recurrent anterior uveitis. (12882509)
2003
17
Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease. (11489211)
2001
18
Clinical and genetic features of choroideremia (10913657)
2000
19
REP-1 gene mutations in Japanese patients with choroideremia. (10447648)
1999
20
Clinical and genetic features of choroideremia]. (10589235)
1999
21
Visual impairment and REP-1 gene mutations in Japanese choroideremia patients. (10420196)
1999
22
Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene. (9894161)
1998
23
Unusual macular findings in a known choroideremia carrier. (9850276)
1998
24
A practical diagnostic test for choroideremia. (9754170)
1998
25
Histopathology of the retinal pigment epithelium of a female carrier of choroideremia. (9276121)
1997
26
The protein truncation test (PTT) as a method of detection for choroideremia mutations. (9441709)
1997
27
Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency. (8791255)
1996
28
Human choroideremia protein contains a FAD-binding domain. (8589712)
1996
29
Prenatal diagnosis of choroideremia. (8741114)
1996
30
A case study of choroideremia highlighting differential diagnosis and management with Fresnel prism therapy. (8888868)
1996
31
Phenotype variations within a choroideremia family lacking the entire CHM gene. (8749050)
1995
32
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. (1598901)
1992
33
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. (1969148)
1990
34
Choroideremia and hypopituitarism: an association. (2624260)
1989
35
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. (2491012)
1989
36
Vitreous fluorophotometry in carriers of choroideremia and X-linked retinitis pigmentosa. (2916974)
1989
37
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. (3476958)
1987
38
Deletion of the DXS165 locus in patients with classical choroideremia. (3481306)
1987
39
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence. (2886237)
1987
40
Electroretinographic findings in selected pedigrees with choroideremia. (3953730)
1986
41
Choroideremia-locus maps between DXS3 and DXS11 on Xq. (3755117)
1986
42
Differential diagnosis of diffuse choroidal atrophies. Diffuse choriocapillaris atrophy, choroideremia, and gyrate atrophy of the choroid and retina. (4001587)
1985
43
Fluorescein angiography in potential carriers for choroideremia. An additional aid for final diagnosis, when funduscopy shows equivocal symptoms. (4058868)
1985
44
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. (2988333)
1985
45
Choroideremia. A pathological report. (5727760)
1968
46
Inheritance of choroideremia. (13301651)
1956
47
CHOROIDEREMIA. (13011963)
1953
48
Choroideremia; clinical and genetic aspects. (12978235)
1952
49
Choroideremia. A report of three cases in three generations. (14821277)
1951
50
The pathologic findings in two cases of choroideremia. (15424921)
1950

Genetic Variations for Choroideremia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Choroideremia:

62
id Symbol AA change Variation ID SNP ID
1CHMp.Gln471LeuVAR_008273
2CHMp.His507ArgVAR_066847
3CHMp.Leu550ProVAR_066848

Expression for genes affiliated with Choroideremia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology, 51QIAGEN
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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
39.9RAB27A, RAB27B
4
Normal wtCFTR traffic / Sorting endosome formation
9.8RAB5A, RAB7A
59.4RAB7A, RAB5A, GDI1, RAB27A
69.0RAB5A, RAB3A, RAB7A, RAB6A
7
Hide members
8.2RAB27A, RAB27B, RAB1A, RAB3A, RAB6A, RAB5A

Compounds for genes affiliated with Choroideremia

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11DrugBank, 28IUPHAR, 44Novoseek, 24HMDB
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Compounds related to Choroideremia according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1FARNESYL1110.0CHM, RABGGTA, RABGGTB
2geranylgeranyl diphosphate28 1111.0RABGGTB, RABGGTA
3geranylgeranyl pyrophosphate4410.0CHM, RAB7A, AGFG1
4phosphatidylinositol 3-phosphate449.8RAB5A, RAB7A
5farnesyl diphosphate44 28 1111.8RABGGTA, AGFG1, RABGGTB
6N-Formylmethionine119.7RABGGTA, RABGGTB
7mannose 6-phosphate44 2410.5ARSA, RAB7A, RAB5A, AGFG1
8n-ethylmaleimide44 1110.2RAB6A, RAB5A, AGFG1
9lipid448.5RAB7A, RAB6A, RPE65, ARSA, AGFG1, RAB5A
10gdp448.3RAB3A, RAB5A, GDI1, CHM, AGFG1, RAB6A
11gtp44 289.3GDI1, AGFG1, RAB5A, RAB6A, RAB3A, RAB7A

GO Terms for genes affiliated with Choroideremia

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16Gene Ontology
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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:0459219.5RAB27A, RAB27B, RAB5A
4visual perceptionGO:0076019.3RPE65, CHML, CHM, RABGGTB, RABGGTA
5GTP catabolic processGO:0061848.7RAB7A, RAB5A, RAB6A, RAB3A, RAB1A
6protein transportGO:0150318.5GDI1, RAB5A, RAB7A, RAB27B, RAB1A, RAB3A
7small GTPase mediated signal transductionGO:0072647.9RAB5A, GDI1, RAB6A, RAB3A, RAB27A, RAB7A

Molecular functions related to Choroideremia according to GeneCards/GeneDecks:

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

Products for genes affiliated with Choroideremia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Choroideremia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet