MCID: CHR081
MIFTS: 54

Choroideremia

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Choroideremia

MalaCards integrated aliases for Choroideremia:

Name: Choroideremia 54 12 23 50 24 25 56 71 29 13 52 42 14 69
Progressive Tapetochoroidal Dystrophy 50 25 71
Chm 50 56 71
Tcd 50 25 71
Choroidal Sclerosis 25 69
Progressive Choroidal Atrophy 12
Tapetochoroidal Dystrophy 56

Characteristics:

Orphanet epidemiological data:

56
choroideremia
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
x-linked dominant

Miscellaneous:
onset in second to third decade
carrier females show a distinct flecked autofluorescence pattern


HPO:

32
choroideremia:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 303100
Disease Ontology 12 DOID:9821
ICD10 33 H31.21
ICD9CM 35 363.55
MeSH 42 D015794
NCIt 47 C34469
SNOMED-CT 64 75241009
Orphanet 56 ORPHA180
MESH via Orphanet 43 D015794
UMLS via Orphanet 70 C0008525
ICD10 via Orphanet 34 H31.2
UMLS 69 C0008525

Summaries for Choroideremia

NIH Rare Diseases : 50 choroideremia is a genetic condition that causes vision loss. this disorder typically affects males. the first symptom is usually impairment of night vision (night blindness), which can occur in childhood. people with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). the vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). the vision issues tend to get worse over time and usually lead to blindness in late adulthood. the rate and degree of vision loss differs for each person. choroideremia is caused by spelling mistakes (mutations) in the chm gene and is inherited in an x-linked recessive pattern. last updated: 1/13/2016

MalaCards based summary : Choroideremia, also known as progressive tapetochoroidal dystrophy, is related to choroideremia, deafness, and mental retardation and choroideremia hypopituitarism, and has symptoms including progressive visual loss, visual impairment and myopia. An important gene associated with Choroideremia is CHM (CHM, Rab Escort Protein 1), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. The drugs Simvastatin and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotype is pigmentation.

UniProtKB/Swiss-Prot : 71 Choroideremia: An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy.

Genetics Home Reference : 25 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.

OMIM : 54
Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye (Cremers et al., 1990). The characteristic lesion of choroideremia is chorioretinal scalloped atrophy in the midperipheral fundus, with preservation of the macula (Li et al., 2014). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the CHM and POU3F4 (300039) genes on Xq21. X-linked deafness-2 with stapes fixation (DFNX2; 304400) is also caused by mutation in the CHM gene. (303100)

Wikipedia : 72 Choroideremia /kɒˌrɔɪdɪˈriːmi.ə/ (CHM) is a rare, X-linked recessive form of hereditary retinal... more...

GeneReviews: NBK1337

Related Diseases for Choroideremia

Graphical network of the top 20 diseases related to Choroideremia:



Diseases related to Choroideremia

Symptoms & Phenotypes for Choroideremia

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
choroidal sclerosis
choroideremia (degeneration of the choriocapillaris and retinal pigment epithelium and finally retina)
progressive vision loss (in males and some carrier females)
choroidoretinal degeneration (starting in the midperiphery of the fundus and progressing centrally and peripherally)
reduced central vision (occurs last)
more

Clinical features from OMIM:

303100

Human phenotypes related to Choroideremia:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 56 32 frequent (33%) Frequent (79-30%) HP:0000529
2 visual impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000505
3 myopia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000545
4 abnormal electroretinogram 56 32 hallmark (90%) Very frequent (99-80%) HP:0000512
5 abnormality of retinal pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007703
6 nyctalopia 32 hallmark (90%) HP:0000662
7 night blindness 56 Very frequent (99-80%)
8 chorioretinal atrophy 32 HP:0000533
9 chorioretinal degeneration 32 HP:0200065
10 constriction of peripheral visual field 32 HP:0001133
11 choroideremia 32 HP:0001139
12 abnormality of the eye 56 Very frequent (99-80%)
13 abnormality of vision 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Choroideremia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 CHM RAB27A RABGGTA SERPINF1

Drugs & Therapeutics for Choroideremia

Drugs for Choroideremia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
2 Anticholesteremic Agents Phase 1, Phase 2
3 Antimetabolites Phase 1, Phase 2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
5 Hypolipidemic Agents Phase 1, Phase 2
6 Lipid Regulating Agents Phase 1, Phase 2
7
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262 389
8
Pyridoxal Approved, Nutraceutical 66-72-8 1050
9
Pyridoxine Approved, Nutraceutical, Vet_approved 65-23-6 1054
10 Vitamin B 6
11 arginine Nutraceutical
12
Pyridoxal Phosphate Nutraceutical 54-47-7 1051

Interventional clinical trials:

(show all 17)

id Name Status NCT ID Phase Drugs
1 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
2 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
3 REP1 Gene Replacement Therapy for Choroideremia Recruiting NCT02407678 Phase 2
4 Choroideremia Gene Therapy Clinical Trial Active, not recruiting NCT02553135 Phase 2
5 Gene Therapy for Blindness Caused by Choroideremia Active, not recruiting NCT01461213 Phase 1, Phase 2 rAAV2.REP1
6 An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia Active, not recruiting NCT02077361 Phase 1, Phase 2
7 THOR - Tübingen Choroideremia Gene Therapy Trial Active, not recruiting NCT02671539 Phase 2
8 Safety and Dose Escalation Study of AAV2-hCHM in Subjects With CHM (Choroideremia) Gene Mutations Active, not recruiting NCT02341807 Phase 1, Phase 2
9 The Short-term Effects of Simvastatin on the Vision of Males Affected by Choroideremia Terminated NCT01654562 Phase 1, Phase 2 Simvastatin
10 IRIS PILOT - Extended Pilot Study With a Retinal Implant System Unknown status NCT00427180
11 Pilot Study of a Suprachoroidal Retinal Prosthesis Completed NCT01603576
12 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
13 "Natural History" Study of Choroideremia Recruiting NCT02994368
14 High Resolution Retinal Imaging Recruiting NCT01866371
15 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
16 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Active, not recruiting NCT02670980
17 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy Active, not recruiting NCT01864486

Search NIH Clinical Center for Choroideremia

Cochrane evidence based reviews: choroideremia

Genetic Tests for Choroideremia

Genetic tests related to Choroideremia:

id Genetic test Affiliating Genes
1 Choroideremia 29 24 CHM

Anatomical Context for Choroideremia

MalaCards organs/tissues related to Choroideremia:

39
Eye, Retina, Testes, Pituitary, Endothelial, Monocytes, Brain

Publications for Choroideremia

Articles related to Choroideremia:

(show top 50) (show all 261)
id Title Authors Year
1
Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow. ( 28271634 )
2017
2
Novel non-contiguous exon duplication in choroideremia. ( 28369842 )
2017
3
THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA. ( 28800019 )
2017
4
A maternally inherited 8.05A Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. ( 28630650 )
2017
5
Choriocapillaris evaluation in choroideremia using optical coherence tomography angiography. ( 28101400 )
2017
6
LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION. ( 28937528 )
2017
7
Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy. ( 28911202 )
2017
8
Outcome of Full-Thickness Macular Hole Surgery in Choroideremia. ( 28753983 )
2017
9
Re: Khan etA al.: Clinical and genetic features of choroideremia in childhood (Ophthalmology. 2016;123:2158-2165). ( 28645346 )
2017
10
Choroideremia. ( 28520608 )
2017
11
Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients. ( 28774736 )
2017
12
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved RPE Area in a Cohort of Eyes with Choroideremia. ( 28499705 )
2017
13
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia. ( 28643494 )
2017
14
Quantitative and Qualitative Features of Spectral-Domain Optical Coherence Tomography Provide Prognostic Indicators for Visual Acuity in Patients With Choroideremia. ( 28902331 )
2017
15
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers. ( 28752371 )
2017
16
Diagnosis for choroideremia in a large Chinese pedigree by nexta89generation sequencing (NGS) and nona89invasive prenatal testing (NIPT). ( 28098911 )
2017
17
Single-base substitutions in the CHM promoter as a cause of choroideremia. ( 28271586 )
2017
18
Optical coherence tomography angiography and fundus autofluorescence in the eyes with choroideremia. ( 28062428 )
2017
19
PHENOTYPING CHOROIDEREMIA AND ITS CARRIER STATE WITH MULTIMODAL IMAGING TECHNIQUES. ( 27599108 )
2016
20
A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype. ( 27348340 )
2016
21
Correlation of Optical Coherence Tomography and Autofluorescence in the Outer Retina and Choroid of Patients With Choroideremia. ( 27403996 )
2016
22
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. ( 27070432 )
2016
23
Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond. ( 27537265 )
2016
24
Novel CHM mutations identified in Chinese families with Choroideremia. ( 27739455 )
2016
25
Optical Coherence Tomography Angiography in Choroideremia: Correlating Choriocapillaris Loss With Overlying Degeneration. ( 27149258 )
2016
26
Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia. ( 28112135 )
2016
27
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy. ( 27247961 )
2016
28
A Qualitative and Quantitative Assessment of Fundus Autofluorescence Patterns in Patients With Choroideremia. ( 27750291 )
2016
29
Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia. ( 26855058 )
2016
30
Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study. ( 27986385 )
2016
31
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype. ( 27820636 )
2016
32
Autofluorescence Lifetimes in Patients With Choroideremia Identify Photoreceptors in Areas With Retinal Pigment Epithelium Atrophy. ( 27951593 )
2016
33
Visual Acuity after Retinal Gene Therapy for Choroideremia. ( 27120491 )
2016
34
Clinical and Genetic Features of Choroideremia in Childhood. ( 27506488 )
2016
35
Multimodal Imaging of Photoreceptor Structure in Choroideremia. ( 27936069 )
2016
36
Visual Function and Central Retinal Structure in Choroideremia. ( 27409497 )
2016
37
Clinical Evaluation and Cone Alterations in Choroideremia. ( 26992839 )
2016
38
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model. ( 27329764 )
2016
39
Multimodal assessment of choroideremia patients defines pre-treatment characteristics. ( 25744334 )
2015
40
Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia. ( 26327910 )
2015
41
Outcomes following cataract surgery in choroideremia. ( 25592124 )
2015
42
Correlation of Retinal Structure and Function in Choroideremia Carriers. ( 25682176 )
2015
43
Recent advances and future prospects in choroideremia. ( 26648685 )
2015
44
Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa. ( 26216097 )
2015
45
Functional Defects in Color Vision in Patients With Choroideremia. ( 26133251 )
2015
46
Pathogenic mechanisms and the prospect of gene therapy for choroideremia. ( 26251765 )
2015
47
Correction: AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models. ( 26090960 )
2015
48
Genetic analysis of choroideremia families in the Australian population. ( 25912515 )
2015
49
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities. ( 26720468 )
2015
50
Molecular genetic diagnostic techniques in choroideremia. ( 24791138 )
2014

Variations for Choroideremia

UniProtKB/Swiss-Prot genetic disease variations for Choroideremia:

71
id Symbol AA change Variation ID SNP ID
1 CHM p.Gln471Leu VAR_008273
2 CHM p.His507Arg VAR_066847 rs397514603
3 CHM p.Leu550Pro VAR_066848

ClinVar genetic disease variations for Choroideremia:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 CHM NM_000390.3(CHM): c.1358_1359delCCinsGA (p.Ser453Ter) indel Pathogenic rs132630263 GRCh37 Chromosome X, 85155705: 85155706
2 CHM NM_000390.3(CHM): c.1484C> A (p.Ser495Ter) single nucleotide variant Pathogenic rs132630264 GRCh37 Chromosome X, 85149219: 85149219
3 CHM NM_000390.3(CHM): c.1471G> T (p.Glu491Ter) single nucleotide variant Pathogenic rs132630265 GRCh37 Chromosome X, 85149232: 85149232
4 CHM CHM, 1-BP DEL, GGA146GA, FS159TER deletion Pathogenic
5 CHM NM_000390.3(CHM): c.1584_1587delTGTT (p.Val529Hisfs) deletion Pathogenic rs587776746 GRCh37 Chromosome X, 85133992: 85133995
6 CHM NM_000390.3(CHM): c.1497C> A (p.Cys499Ter) single nucleotide variant Pathogenic rs132630267 GRCh37 Chromosome X, 85149206: 85149206
7 CHM NM_000390.3(CHM): c.877C> T (p.Arg293Ter) single nucleotide variant Pathogenic rs132630266 GRCh37 Chromosome X, 85212923: 85212923
8 CHM CHM, L1 INS insertion Pathogenic
9 CHM NM_000390.3(CHM): c.1520A> G (p.His507Arg) single nucleotide variant Pathogenic rs397514603 GRCh37 Chromosome X, 85134059: 85134059
10 CHM NM_000390.3(CHM): c.1609+2dupT duplication Pathogenic rs386833676 GRCh37 Chromosome X, 85133968: 85133968
11 CHM NM_000390.3(CHM): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs527236048 GRCh37 Chromosome X, 85213877: 85213877
12 CHM NM_000390.3(CHM): c.116+1G> A single nucleotide variant Likely pathogenic rs786204761 GRCh38 Chromosome X, 86027490: 86027490
13 CHM NM_000390.3(CHM): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs776256380 GRCh37 Chromosome X, 85213970: 85213970
14 CHM NM_000390.3(CHM): c.649_652delTACT (p.Tyr217Hisfs) deletion Pathogenic rs886043716 GRCh37 Chromosome X, 85218720: 85218723
15 CHM NM_000390.3(CHM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057516265 GRCh37 Chromosome X, 85302536: 85302536

Copy number variations for Choroideremia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 265570 X 84500000 86200000 Deletion REP-1 Choroideremia

Expression for Choroideremia

Search GEO for disease gene expression data for Choroideremia.

Pathways for Choroideremia

Pathways related to Choroideremia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 ARSA CHM CHML RAB27A RAB7A RABGGTA
2
Show member pathways
12.76 AGFG1 CHM CHML RAB27A RAB7A
3 11.22 CHM CHML RAB27A RAB7A
4 10.83 CHM CHML RAB27A RAB7A RABGGTA
5 10.23 RAB27A RAB7A

GO Terms for Choroideremia

Cellular components related to Choroideremia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.33 ARSA RAB27A RAB7A
2 melanosome membrane GO:0033162 8.96 RAB27A RAB7A
3 Rab-protein geranylgeranyltransferase complex GO:0005968 8.8 CHM CHML RABGGTA

Biological processes related to Choroideremia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.46 ARSA CHM CHML RABGGTA
2 small GTPase mediated signal transduction GO:0007264 9.43 CHM CHML RAB7A
3 membrane organization GO:0061024 9.35 AGFG1 CHM CHML RAB27A RAB7A
4 protein geranylgeranylation GO:0018344 8.8 CHM CHML RABGGTA

Molecular functions related to Choroideremia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 9.43 AGFG1 CHM CHML
2 Rab GTPase binding GO:0017137 9.33 CHM CHML RABGGTA
3 GDP binding GO:0019003 9.32 RAB27A RAB7A
4 GDP-dissociation inhibitor activity GO:0005092 8.96 CHM CHML
5 Rab geranylgeranyltransferase activity GO:0004663 8.62 CHM RABGGTA

Sources for Choroideremia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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