CHM
MCID: CHR081
MIFTS: 63

Choroideremia (CHM) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Choroideremia

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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 based summary: Choroideremia, also known as progressive tapetochoroidal dystrophy, is related to blindness and retinal degeneration, 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 geranylgeranyl pyrophosphate 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:65 Choroideremia /k??r??d??ri?mi.?/ is an X-linked recessive retinal degenerative disease that leads to the... more...

Description from OMIM:46 303100

GeneReviews summary for choroid

Aliases & Classifications for Choroideremia

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Sources:
21Genetics Home Reference, 62UMLS, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 34MeSH, 39NCIt, 27ICD9CM, 57SNOMED-CT, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Choroideremia, Aliases & Descriptions:

Name: Choroideremia 8 9 19 42 20 22 21 46 10 44 48 62
Progressive Tapetochoroidal Dystrophy 42 21 62
Chm 42 48 62
Progressive Choroidal Atrophy 8 62
 
Choroidal Sclerosis 21 62
Tcd 42 21
Tapetochoroidal Dystrophy 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare 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


External Ids:

Disease Ontology8 DOID:9821
MeSH34 D015794
OMIM46 303100
NCIt39 C34469
SNOMED-CT57 75241009
ICD9CM27 363.55
UMLS via Orphanet63 C0008525
MESH via Orphanet35 D015794
ICD10 via Orphanet26 H31.2

Related Diseases for Choroideremia

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1blindness29.8SERPINF1, CHM, RPE65, AGFG1
2retinal degeneration29.4SERPINF1, CHM, RPE65, RAB6A, AGFG1
3retinitis10.6
4retinitis pigmentosa10.4
5sickle cell anemia10.4
6ayazi syndrome10.3
7mental retardation10.3
8griscelli syndrome type 210.3AGFG1, RAB27A
9charcot-marie-tooth disease10.3RAB7A
10choroiditis10.2
11choroideremia hypopituitarism10.2
12usher syndrome10.2
13choroideremia, deafness, and mental retardation10.2
14choriodal dystrophy, central areolar 210.2
15x-linked nonsyndromic deafness10.2RPS6KA6
16carotid stenosis10.2
17spiradenoma10.2CHM, SERPINF1
18macular holes10.1
19vitelliform macular dystrophy10.1
20hypopituitarism10.1
21usher syndrome type ii10.1
22deafness, x-linked 210.1
23van den bosch syndrome10.1
24cone-rod dystrophy 210.1RPE65, DNAJB12
25leber congenital amaurosis10.0SERPINF1, RPE65
26pseudoxanthoma elasticum10.0
27localized scleroderma10.0
28partial central choroid dystrophy10.0
29scleroderma10.0
30carotid artery dissection10.0
31migraine without aura10.0
32cerebritis10.0
33artery disease10.0
34carotid artery disease10.0
35migraine10.0
36aneurysm10.0
37atrial septal aneurysm10.0
38fundus dystrophy10.0RPE65, DNAJB12
39rhyns syndrome10.0SERPINF1, CHM, RPE65
40stargardt disease9.9
41cataract9.9
42ectodermal dysplasia9.9
43obesity9.9
44focal dermal hypoplasia9.9
45bardet-biedl syndrome9.9
46gyrate atrophy9.9
47polydactyly9.9
48kearns-sayre syndrome9.9
49cystoid macular edema9.9
50posterior polar cataract9.9

Graphical network of the top 20 diseases related to Choroideremia:



Diseases related to choroideremia

Symptoms for Choroideremia

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Symptoms by clinical synopsis from OMIM:

303100

Clinical features from OMIM:

303100

Symptoms:

48 (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

HPO human phenotypes related to Choroideremia:

(show all 14)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 myopia hallmark (90%) HP:0000545
4 night blindness hallmark (90%) HP:0000662
5 abnormal retinal pigmentation hallmark (90%) HP:0007703
6 visual impairment typical (50%) HP:0000505
7 progressive visual loss HP:0000529
8 night blindness HP:0000662
9 abnormality of skin pigmentation HP:0001000
10 constricted visual fields HP:0001133
11 choroideremia HP:0001139
12 choroidal sclerosis HP:0001150
13 x-linked dominant inheritance HP:0001423
14 choroidal degeneration HP:0007945

Drugs & Therapeutics for Choroideremia

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Drug clinical trials:

Search ClinicalTrials for Choroideremia

Search NIH Clinical Center for Choroideremia

Genetic Tests for Choroideremia

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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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MalaCards organs/tissues related to Choroideremia:

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

Animal Models for Choroideremia or affiliated genes

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MGI Mouse Phenotypes related to Choroideremia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3RABGGTA, RAB27A, RPE65, CHM, SERPINF1

Publications for Choroideremia

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Articles related to Choroideremia:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Rab GTPase Prenylation Hierarchy and Its Potential Role in Choroideremia Disease. (24358126)
2013
2
Clinical utility gene card for: Choroideremia. (23963298)
2013
3
CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice. (22228595)
2012
4
Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants. (20861657)
2011
5
Retinal nerve fiber thickness measurements in choroideremia patients with spectral-domain optical coherence tomography. (21268676)
2011
6
Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). (22076985)
2011
7
Cystic macular oedema on spectral-domain optical coherence tomography in choroideremia patients without cystic changes on fundus examination. (20966974)
2011
8
Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia. (22025891)
2011
9
Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. (19376587)
2009
10
CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. (19764077)
2009
11
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
12
Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism. (18978655)
2008
13
A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings. (18773267)
2008
14
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. (18487380)
2008
15
Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. (17698759)
2007
16
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. (16936131)
2006
17
Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene. (15579993)
2004
18
Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells. (14983050)
2004
19
Choroideremia gene testing. (15225095)
2004
20
Progression of defects in the central 10-degree visual field of patients with retinitis pigmentosa and choroideremia. (10218696)
1999
21
Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene. (9894161)
1998
22
Unusual macular findings in a known choroideremia carrier. (9850276)
1998
23
Update on a diagnostic test for choroideremia: the protein truncation test (PTT)]. (9759428)
1998
24
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. (9175730)
1997
25
Histopathology of the retinal pigment epithelium of a female carrier of choroideremia. (9276121)
1997
26
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. (9067750)
1997
27
Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency. (8791255)
1996
28
Human choroideremia protein contains a FAD-binding domain. (8630507)
1996
29
A highly polymorphic microsatellite marker located within the choroideremia gene. (8905853)
1996
30
Phenotype variations within a choroideremia family lacking the entire CHM gene. (8749050)
1995
31
Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients. (7747574)
1994
32
Identification of mutations in Danish choroideremia families. (8477262)
1993
33
Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives. (8500262)
1993
34
Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. (8380507)
1993
35
A new (old) deletion in the choroideremia gene. (8242078)
1993
36
Isolation of a candidate gene for choroideremia. (1549574)
1992
37
Choroideremia: linkage analysis with physically mapped close DNA-markers. (1677924)
1991
38
DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. (2341150)
1990
39
Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. (2798422)
1989
40
Choroideremia associated with a subretinal neovascular membrane. Case report. (2442805)
1987
41
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. (3476958)
1987
42
Electroretinographic findings in selected pedigrees with choroideremia. (3953730)
1986
43
Differential diagnosis of diffuse choroidal atrophies. Diffuse choriocapillaris atrophy, choroideremia, and gyrate atrophy of the choroid and retina. (4001587)
1985
44
Choroideremia: a clinical, electron microscopic, and biochemical report. (6089068)
1984
45
Choroideremia (progressive chorioretinal degeneration). (5741530)
1968
46
The electroretinogram in choroideremia. (13228525)
1955
47
Choroideremia, its inheritance in a family. (13136407)
1952
48
Choroideremia. (13012548)
1952
49
Choroideremia; a hereditary and clinical study. (15401776)
1950
50
A hereditary and clinical study of choroideremia. (18901798)
1948

Variations for Choroideremia

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UniProtKB/Swiss-Prot genetic disease variations for Choroideremia:

64
id Symbol AA change Variation ID SNP ID
1CHMp.Gln471LeuVAR_008273
2CHMp.His507ArgVAR_066847
3CHMp.Leu550ProVAR_066848

Clinvar genetic disease variations for Choroideremia:

6
id Gene Name Type Significance SNP ID Assembly Location
1CHMNM_000390.2(CHM): c.1358_1359delCCinsGA (p.Ser453Ter)indelPathogenicrs132630263GRCh37Chr X, 85155705: 85155706
2CHMNM_000390.2(CHM): c.1484C> A (p.Ser495Ter)single nucleotide variantPathogenicrs132630264GRCh37Chr X, 85149219: 85149219
3CHMNM_000390.2(CHM): c.1471G> T (p.Glu491Ter)single nucleotide variantPathogenicrs132630265GRCh37Chr X, 85149232: 85149232
4CHMCHM, 1-BP DEL, GGA146GA, FS159TERdeletionPathogenic
5CHMNM_000390.2(CHM): c.1584_1587delTGTT (p.Val529Hisfs)deletionPathogenicGRCh37Chr X, 85133992: 85133995
6CHMNM_000390.2(CHM): c.1497C> A (p.Cys499Ter)single nucleotide variantPathogenicrs132630267GRCh37Chr X, 85149206: 85149206
7CHMNM_000390.2(CHM): c.877C> T (p.Arg293Ter)single nucleotide variantPathogenicrs132630266GRCh37Chr X, 85212923: 85212923
8CHMCHM, L1 INSinsertionPathogenic
9CHMNM_000390.2(CHM): c.1520A> G (p.His507Arg)single nucleotide variantPathogenicrs397514603GRCh37Chr X, 85134059: 85134059
10CHMNM_000390.2(CHM): c.1609+2dupTduplicationPathogenicrs386833676GRCh37Chr X, 85133967: 85133968

Expression for genes affiliated with Choroideremia

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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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Compounds for genes affiliated with Choroideremia

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Choroideremia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1geranylgeranyl pyrophosphate449.8AGFG1, RAB7A, CHM
2geranylgeranyl diphosphate28 1110.8RABGGTA, RABGGTB
3phosphatidylinositol 3-phosphate449.7RAB5A, RAB7A
4farnesyl diphosphate44 28 1111.6AGFG1, RABGGTA, RABGGTB
5mannose 6-phosphate44 2410.3RAB7A, RAB5A, AGFG1, ARSA
6n-ethylmaleimide44 119.5RAB5A, RAB6A, AGFG1
7cysteine448.1SERPINF1, CHM, RAB5A, RAB6A, AGFG1, ARSA
8lipid448.0CHM, RPE65, RAB7A, RAB5A, RAB6A, AGFG1
9gdp447.9AGFG1, CHM, RAB7A, RAB5A, RAB27A, RAB6A
10gtp44 288.9CHM, RAB7A, RAB5A, RAB27A, RAB6A, RAB3A

GO Terms for genes affiliated with Choroideremia

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Cellular components related to Choroideremia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057649.7ARSA, RAB27A, RAB7A
2Rab-protein geranylgeranyltransferase complexGO:0059689.4RABGGTA, RABGGTB, CHML, CHM
3melanosomeGO:0424708.5SERPINF1, RAB7A, RAB5A, RAB1A, RAB27A
4extracellular vesicular exosomeGO:0700627.6SERPINF1, RAB7A, RAB5A, RAB1A, RAB27A, RAB6A
5cytosolGO:0058296.8CHM, CHML, RPS6KA6, RAB5A, RAB1A, RAB6A

Biological processes related to Choroideremia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of exocytosisGO:0459219.6RAB5A, RAB27A
2protein geranylgeranylationGO:0183449.5RABGGTA, RABGGTB, CHML, CHM
3visual perceptionGO:0076019.5RABGGTA, RABGGTB, RPE65, CHM
4antigen processing and presentationGO:0198829.4RAB6A, RAB27A
5endocytosisGO:0068978.8RAB1A, RAB5A, RAB7A
6GTP catabolic processGO:0061847.9RAB7A, RAB5A, RAB1A, RAB6A, RAB3A
7small GTPase mediated signal transductionGO:0072647.6RAB7A, RAB5A, RAB1A, RAB27A, RAB6A, RAB3A

Molecular functions related to Choroideremia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rab geranylgeranyltransferase activityGO:0046639.4RABGGTA, RABGGTB, CHML, CHM
2GDP bindingGO:0190039.4RAB27A, RAB5A, RAB7A
3Rab GTPase bindingGO:0171379.1CHM, CHML, RABGGTB, RABGGTA
4GTPase activityGO:0039247.6RAB7A, RAB5A, RAB1A, RAB27A, RAB6A, RAB3A
5GTP bindingGO:0055257.5RAB7A, RAB5A, RAB1A, RAB27A, RAB6A, RAB3A

Products for genes affiliated with Choroideremia

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet