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CHM
MCID: CHR081
MIFTS: 55

Choroideremia (CHM)

Categories: Blood diseases, Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Choroideremia

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MalaCards integrated aliases for Choroideremia:

Name: Choroideremia 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Chm 57 53 59 75
Tcd 57 53 25 75
Progressive Tapetochoroidal Dystrophy 53 25 75
Choroidal Sclerosis 25 73
Tapetochoroidal Dystrophy, Progressive; Tcd 57
Tapetochoroidal Dystrophy, Progressive 57
Progressive Choroidal Atrophy 12
Tapetochoroidal Dystrophy 59

Characteristics:

Orphanet epidemiological data:

59
choroideremia
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

57
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 inheritance x-linked dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 303100
Disease Ontology 12 DOID:9821
ICD10 33 H31.21
ICD9CM 35 363.55
MeSH 44 D015794
NCIt 50 C34469
SNOMED-CT 68 75241009
Orphanet 59 ORPHA180
ICD10 via Orphanet 34 H31.2
MESH via Orphanet 45 D015794
UMLS via Orphanet 74 C0008525
KEGG 37 H01116
Sources

Summaries for Choroideremia

About this section
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.

MalaCards based summary : Choroideremia, also known as chm, is related to bietti crystalline corneoretinal dystrophy and choroideremia, deafness, and mental retardation. 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 Hydroxymethylglutaryl-CoA Reductase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are abnormality of retinal pigmentation and progressive visual loss

NIH Rare Diseases : 53 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.

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Choroideremia (/k�?�?r�?ɪdɪ�?riːmi�?/; CHM) is a rare, X-linked recessive form of hereditary retinal... more...

GeneReviews: NBK1337
Sources

Related Diseases for Choroideremia

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 bietti crystalline corneoretinal dystrophy 31.4 CHM CHML CYP4V2
2 choroideremia, deafness, and mental retardation 12.3
3 choroideremia hypopituitarism 12.2
4 ayazi syndrome 12.1
5 van den bosch syndrome 11.7
6 deafness, x-linked 2 11.2
7 retinitis pigmentosa 10.4
8 leber congenital amaurosis 4 10.4
9 retinitis 10.4
10 sickle cell anemia 10.3
11 carotid stenosis 10.2
12 pelizaeus-merzbacher disease 10.1
13 retinitis pigmentosa-deafness syndrome 10.1
14 usher syndrome 10.1
15 usher syndrome, type iid 10.0
16 cataract 10.0
17 retinal degeneration 10.0
18 hypopituitarism 10.0
19 choroid disease 10.0 CHM RAB27A
20 arteries, anomalies of 9.9
21 migraine with aura 9.9
22 intracranial aneurysm 9.9
23 migraine without aura 9.9
24 carotid artery disease 9.9
25 carotid artery dissection 9.9
26 sickle cell disease 9.9
27 head injury 9.9
28 atrial septal aneurysm 9.9
29 uveal disease 9.9 CHM CHML
30 macular dystrophy, dominant cystoid 9.9
31 retinal detachment 9.9
32 choroidal dystrophy, central areolar, 1 9.9
33 gyrate atrophy of choroid and retina 9.9
34 oliver-mcfarlane syndrome 9.9
35 mental retardation, x-linked, syndromic, martin-probst type 9.9
36 kearns-sayre syndrome 9.9
37 polydactyly 9.9
38 bardet-biedl syndrome 2 9.9
39 bardet-biedl syndrome 10 9.9
40 bardet-biedl syndrome 11 9.9
41 bardet-biedl syndrome 12 9.9
42 stargardt disease 9.9
43 ectodermal dysplasia 9.9
44 posterior polar cataract 9.9
45 myopia 9.9
46 uveitis 9.9
47 neuronal ceroid lipofuscinosis 9.9
48 bardet-biedl syndrome 9.9
49 turner syndrome 9.9
50 macular retinal edema 9.9

Graphical network of the top 20 diseases related to Choroideremia:



Diseases related to Choroideremia
Sources

Symptoms & Phenotypes for Choroideremia

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
choroidal sclerosis
night blindness (occurs first)
constricted visual fields (occurs second)
reduced central vision (occurs last)
atrophy around the optic disc (in carrier females)
more

Clinical features from OMIM:

303100

Human phenotypes related to Choroideremia:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
2 progressive visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000529
3 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
4 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
5 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
6 visual impairment 59 Very frequent (99-80%)
7 abnormality of the eye 59 Very frequent (99-80%)
8 abnormality of vision 59 Very frequent (99-80%)
9 constriction of peripheral visual field 32 HP:0001133
10 choroideremia 32 HP:0001139
11 chorioretinal atrophy 32 HP:0000533
12 chorioretinal degeneration 32 HP:0200065

MGI Mouse Phenotypes related to Choroideremia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 CHM RAB27A RABGGTA SERPINF1
Sources

Drugs & Therapeutics for Choroideremia

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

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

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of AAV2-REP1 for the Treatment of Choroideremia Recruiting NCT03496012 Phase 3
2 Choroideremia Gene Therapy Clinical Trial Completed NCT02553135 Phase 2
3 An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia Completed NCT02077361 Phase 1, Phase 2
4 Gene Therapy for Blindness Caused by Choroideremia Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
5 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
6 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
7 REP1 Gene Replacement Therapy for Choroideremia Recruiting NCT02407678 Phase 2
8 A Safety Study of Retinal Gene Therapy for Choroideremia Recruiting NCT03507686 Phase 2 AAV2-REP1
9 THOR - Tübingen Choroideremia Gene Therapy Trial Active, not recruiting NCT02671539 Phase 2
10 Safety and Dose Escalation Study of AAV2-hCHM in Subjects With CHM (Choroideremia) Gene Mutations Active, not recruiting NCT02341807 Phase 1, Phase 2
11 The Short-term Effects of Simvastatin on the Vision of Males Affected by Choroideremia Terminated NCT01654562 Phase 1, Phase 2 Simvastatin
12 IRIS PILOT - Extended Pilot Study With a Retinal Implant System Unknown status NCT00427180 Not Applicable
13 Pilot Study of a Suprachoroidal Retinal Prosthesis Completed NCT01603576 Not Applicable
14 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy Completed NCT01864486 Not Applicable
15 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
16 Natural History of the Progression of Choroideremia Study Recruiting NCT03359551
17 High Resolution Retinal Imaging Recruiting NCT01866371
18 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
19 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Recruiting NCT03561922 Not Applicable
20 "Natural History" Study of Choroideremia Active, not recruiting NCT02994368
21 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Active, not recruiting NCT02670980 Not Applicable
22 Long-term Safety and Efficacy Follow-up of AAV2-REP1 for the Treatment of Choroideremia (SOLSTICE) Enrolling by invitation NCT03584165
23 Study of a Suprachoroidal Retinal Prosthesis Enrolling by invitation NCT03406416 Not Applicable

Search NIH Clinical Center for Choroideremia

Cochrane evidence based reviews: choroideremia

Sources

Genetic Tests for Choroideremia

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Genetic tests related to Choroideremia:

# Genetic test Affiliating Genes
1 Choroideremia 29 CHM
Sources

Anatomical Context for Choroideremia

About this section

MalaCards organs/tissues related to Choroideremia:

41
Eye, Retina, Testes, Endothelial, Pituitary, Brain, Monocytes
Sources

Publications for Choroideremia

About this section

Articles related to Choroideremia:

(show top 50) (show all 353)
# Title Authors Year
1
Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning. ( 29341445 )
2018
2
Comparing Clinical Perimetry and Population Receptive Field Measures in Patients with Choroideremia. ( 29971442 )
2018
3
Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families. ( 29367200 )
2018
4
In silico data analyses of the hotspot mutations of <i>CHM</i> gene in choroideremia disease. ( 29900297 )
2018
5
A frameshift mutation in the CHM gene causes choroideremia with acute anglea89closure glaucoma. ( 29620233 )
2018
6
Swept-Source OCT of a Scleral Tunnel in Choroideremia. ( 29784091 )
2018
7
Retinal Gene Therapy for Choroideremia: In Vitro Testing for Gene Augmentation Using an Adeno-Associated Viral (AAV) Vector. ( 29188508 )
2018
8
Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi. ( 29377744 )
2018
9
VASCULAR ALTERATIONS REVEALED WITH OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN PATIENTS WITH CHOROIDEREMIA. ( 29543633 )
2018
10
The Biological Activity of AAV Vectors for Choroideremia Gene Therapy Can Be Measured by <i>InA Vitro</i> Prenylation of RAB6A. ( 29707603 )
2018
11
Molecular genetics a88characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. ( 29555028 )
2018
12
Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment. ( 29414605 )
2018
13
The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy. ( 29844446 )
2018
14
Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia. ( 29721931 )
2018
15
Choroideremia in a Woman With Turner Syndrome. ( 29978195 )
2018
16
Two-Year Results after AAV2-Mediated Gene Therapy for Choroideremia: The Alberta Experience. ( 29940166 )
2018
17
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of<i>CHM</i>variant in choroideremia. ( 29296092 )
2018
18
Choroideremia: molecular mechanisms and development of AAV gene therapy. ( 29932012 )
2018
19
Multimodal imaging of the carriers of choroideremia and X-linked retinitis pigmentosa. ( 30364247 )
2018
20
Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment. ( 30541579 )
2018
21
Colour discrimination ellipses in choroideremia. ( 29404760 )
2018
22
Retinal Degeneration in Choroideremia follows an Exponential Decay Function. ( 29580667 )
2018
23
Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients. ( 30193321 )
2018
24
Choroideremia Gene Therapy Phase 2 Clinical Trial: 24-Month Results. ( 30240725 )
2018
25
Macular spatial distribution of preserved autofluorescence in patients with choroideremia. ( 30297337 )
2018
26
Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia. ( 30297895 )
2018
27
CHANGES IN RETINAL SENSITIVITY AFTER GENE THERAPY IN CHOROIDEREMIA. ( 30308560 )
2018
28
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses. ( 30341801 )
2018
29
CHM-1, a novel microtubule-destabilizing agent exhibits antitumor activity via inducing the expression of SIRT2 in human breast cancer cells. ( 29679549 )
2018
30
Are Michigan State University medical school (MSU-CHM) alumni more likely to practice in the region of their graduate medical education primary care program compared to non-MSU-CHM alumni? ( 29793474 )
2018
31
Choroideremia. ( 28520608 )
2017
32
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia. ( 28643494 )
2017
33
Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy. ( 28911202 )
2017
34
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers. ( 28752371 )
2017
35
CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1. ( 29045269 )
2017
36
Outcome of Full-Thickness Macular Hole Surgery in Choroideremia. ( 28753983 )
2017
37
Re: Khan etA al.: Clinical and genetic features of choroideremia in childhood (Ophthalmology. 2016;123:2158-2165). ( 28645346 )
2017
38
A maternally inherited 8.05A Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. ( 28630650 )
2017
39
Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow. ( 28271634 )
2017
40
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved RPE Area in a Cohort of Eyes with Choroideremia. ( 28499705 )
2017
41
Novel non-contiguous exon duplication in choroideremia. ( 28369842 )
2017
42
LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION. ( 28937528 )
2017
43
Single-base substitutions in the CHM promoter as a cause of choroideremia. ( 28271586 )
2017
44
SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy. ( 29160785 )
2017
45
Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients. ( 28774736 )
2017
46
THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA. ( 28800019 )
2017
47
Optical coherence tomography angiography and fundus autofluorescence in the eyes with choroideremia. ( 28062428 )
2017
48
Characterizing the Natural History of Visual Function in Choroideremia Using Microperimetry and Multimodal Retinal Imaging. ( 29084330 )
2017
49
Diagnosis for choroideremia in a large Chinese pedigree by nexta89generation sequencing (NGS) and nona89invasive prenatal testing (NIPT). ( 28098911 )
2017
50
Quantitative and Qualitative Features of Spectral-Domain Optical Coherence Tomography Provide Prognostic Indicators for Visual Acuity in Patients With Choroideremia. ( 28902331 )
2017
Sources

Variations for Choroideremia

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UniProtKB/Swiss-Prot genetic disease variations for Choroideremia:

75
# 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 32)
# 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.1358_1359delCCinsGA (p.Ser453Ter) indel Pathogenic rs132630263 GRCh38 Chromosome X, 85900700: 85900701
3 CHM NM_000390.3(CHM): c.1484C> A (p.Ser495Ter) single nucleotide variant Pathogenic rs132630264 GRCh37 Chromosome X, 85149219: 85149219
4 CHM NM_000390.3(CHM): c.1484C> A (p.Ser495Ter) single nucleotide variant Pathogenic rs132630264 GRCh38 Chromosome X, 85894214: 85894214
5 CHM NM_000390.3(CHM): c.1471G> T (p.Glu491Ter) single nucleotide variant Pathogenic rs132630265 GRCh37 Chromosome X, 85149232: 85149232
6 CHM NM_000390.3(CHM): c.1471G> T (p.Glu491Ter) single nucleotide variant Pathogenic rs132630265 GRCh38 Chromosome X, 85894227: 85894227
7 CHM CHM, 1-BP DEL, GGA146GA, FS159TER deletion Pathogenic
8 CHM NM_000390.3(CHM): c.1584_1587delTGTT (p.Val529Hisfs) deletion Pathogenic rs587776746 GRCh37 Chromosome X, 85133992: 85133995
9 CHM NM_000390.3(CHM): c.1584_1587delTGTT (p.Val529Hisfs) deletion Pathogenic rs587776746 GRCh38 Chromosome X, 85878987: 85878990
10 CHM NM_000390.3(CHM): c.1497C> A (p.Cys499Ter) single nucleotide variant Pathogenic rs132630267 GRCh37 Chromosome X, 85149206: 85149206
11 CHM NM_000390.3(CHM): c.1497C> A (p.Cys499Ter) single nucleotide variant Pathogenic rs132630267 GRCh38 Chromosome X, 85894201: 85894201
12 CHM NM_000390.3(CHM): c.877C> T (p.Arg293Ter) single nucleotide variant Pathogenic rs132630266 GRCh37 Chromosome X, 85212923: 85212923
13 CHM NM_000390.3(CHM): c.877C> T (p.Arg293Ter) single nucleotide variant Pathogenic rs132630266 GRCh38 Chromosome X, 85957918: 85957918
14 CHM CHM, L1 INS insertion Pathogenic
15 CHM NM_000390.3(CHM): c.1520A> G (p.His507Arg) single nucleotide variant Pathogenic rs397514603 GRCh37 Chromosome X, 85134059: 85134059
16 CHM NM_000390.3(CHM): c.1520A> G (p.His507Arg) single nucleotide variant Pathogenic rs397514603 GRCh38 Chromosome X, 85879054: 85879054
17 CHM NM_000390.3(CHM): c.1609+2dupT duplication Pathogenic rs386833676 GRCh37 Chromosome X, 85133968: 85133968
18 CHM NM_000390.3(CHM): c.1609+2dupT duplication Pathogenic rs386833676 GRCh38 Chromosome X, 85878963: 85878963
19 CHM NM_000390.3(CHM): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs527236048 GRCh37 Chromosome X, 85213877: 85213877
20 CHM NM_000390.3(CHM): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs527236048 GRCh38 Chromosome X, 85958872: 85958872
21 CHM NM_000390.3(CHM): c.116+1G> A single nucleotide variant Likely pathogenic rs786204761 GRCh37 Chromosome X, 85282494: 85282494
22 CHM NM_000390.3(CHM): c.116+1G> A single nucleotide variant Likely pathogenic rs786204761 GRCh38 Chromosome X, 86027490: 86027490
23 CHM NM_000390.3(CHM): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs776256380 GRCh37 Chromosome X, 85213970: 85213970
24 CHM NM_000390.3(CHM): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs776256380 GRCh38 Chromosome X, 85958965: 85958965
25 CHM NM_000390.3(CHM): c.649_652delTACT (p.Tyr217Hisfs) deletion Pathogenic rs886043716 GRCh37 Chromosome X, 85218720: 85218723
26 CHM NM_000390.3(CHM): c.649_652delTACT (p.Tyr217Hisfs) deletion Pathogenic rs886043716 GRCh38 Chromosome X, 85963715: 85963718
27 CHM NM_000390.3(CHM): c.189+5A> G single nucleotide variant Uncertain significance rs757833413 GRCh37 Chromosome X, 85236736: 85236736
28 CHM NM_000390.3(CHM): c.189+5A> G single nucleotide variant Uncertain significance rs757833413 GRCh38 Chromosome X, 85981732: 85981732
29 CHM NM_000390.3(CHM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057516265 GRCh38 Chromosome X, 86047532: 86047532
30 CHM NM_000390.3(CHM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057516265 GRCh37 Chromosome X, 85302536: 85302536
31 CHM NM_000390.3(CHM): c.280delA (p.Thr94Leufs) deletion Pathogenic GRCh38 Chromosome X, 85978801: 85978801
32 CHM NM_000390.3(CHM): c.280delA (p.Thr94Leufs) deletion Pathogenic GRCh37 Chromosome X, 85233805: 85233805

Copy number variations for Choroideremia from CNVD:

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

Expression for Choroideremia

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Search GEO for disease gene expression data for Choroideremia.
Sources

Pathways for Choroideremia

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Pathways related to Choroideremia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism of proteins 66
Show member pathways
 13.22 ARSA CHM CHML RAB27A RAB7A RABGGTA
2
Vesicle-mediated transport 66
Show member pathways
 12.76 AGFG1 CHM CHML RAB27A RAB7A
3
RAB GEFs exchange GTP for GDP on RABs 66
11.22 CHM CHML RAB27A RAB7A
4
RAB geranylgeranylation 66
10.83 CHM CHML RAB27A RAB7A RABGGTA
5
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) 22
10.23 RAB27A RAB7A
Sources

GO Terms for Choroideremia

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.33 ARSA RAB27A RAB7A
2 melanosome GO:0042470 9.32 RAB27A SERPINF1
3 secretory granule membrane GO:0030667 9.26 RAB27A RAB7A
4 melanosome membrane GO:0033162 8.96 RAB27A RAB7A
5 Rab-protein geranylgeranyltransferase complex GO:0005968 8.8 CHM CHML RABGGTA

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.61 ARSA RAB27A RAB7A
2 positive regulation of GTPase activity GO:0043547 9.5 AGFG1 CHM CHML
3 post-translational protein modification GO:0043687 9.43 CHM CHML RABGGTA
4 regulation of catalytic activity GO:0050790 9.4 CHM CHML
5 Rab protein signal transduction GO:0032482 9.37 RAB27A RAB7A
6 visual perception GO:0007601 9.33 CHM CYP4V2 RABGGTA
7 intracellular protein transport GO:0006886 9.26 CHM CHML RAB27A RAB7A
8 protein geranylgeranylation GO:0018344 8.8 CHM CHML RABGGTA

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

# 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

Sources for Choroideremia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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