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CHM
MCID: CHR081
MIFTS: 57

Choroideremia (CHM)

Categories: Blood diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Choroideremia

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MalaCards integrated aliases for Choroideremia:

Name: Choroideremia 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Chm 56 52 58 73
Tcd 56 52 25 73
Progressive Tapetochoroidal Dystrophy 52 25 73
Choroidal Sclerosis 25 71
Tapetochoroidal Dystrophy, Progressive; Tcd 56
Tapetochoroidal Dystrophy, Progressive 56
Progressive Choroidal Atrophy 12
Tapetochoroidal Dystrophy 58

Characteristics:

Orphanet epidemiological data:

58
choroideremia
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
x-linked dominant

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


HPO:

31
choroideremia:
Inheritance x-linked inheritance x-linked dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:9821
OMIM 56 303100
KEGG 36 H01116
ICD9CM 34 363.55
NCIt 49 C34469
SNOMED-CT 67 75241009
ICD10 32 H31.21
MESH via Orphanet 44 D015794
ICD10 via Orphanet 33 H31.2
UMLS via Orphanet 72 C0008525
Orphanet 58 ORPHA180
UMLS 71 C0008525 C0344297
Sources

Summaries for Choroideremia

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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 yemenite deaf-blind hypopigmentation syndrome and night blindness. An important gene associated with Choroideremia is CHM (CHM Rab Escort Protein), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. The drugs Pharmaceutical Solutions and Simvastatin 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 abnormal electroretinogram

NIH Rare Diseases : 52 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 : 56 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)

KEGG : 36 Choroideremia (CHM) is an X-linked retinal dystrophy characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the CHM gene, which encodes a protein involved in vesicular trafficking.

UniProtKB/Swiss-Prot : 73 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 : 74 Choroideremia (/kɒˌrɔɪdɪˈriːmiə/; CHM) is a rare, X-linked recessive form of hereditary retinal... more...

GeneReviews: NBK1337
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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 197)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 31.1 RPGR RPE65 CHM ABCA4
2 night blindness 30.5 RPGR RPE65 CYP4V2 CHM ABCA4
3 gyrate atrophy of choroid and retina 30.3 RPGR RPE65 CHM ABCA4
4 choroidal dystrophy, central areolar, 1 30.1 RPE65 CYP4V2 CHML ABCA4
5 retinal degeneration 30.1 SERPINF1 RPGR RPE65 CYP4V2 CHM AGFG1
6 retinal disease 29.9 RPGR RPE65 CNGB3 CNGA3 ABCA4
7 usher syndrome type 2 29.9 RPGR RPE65 ABCA4
8 usher syndrome 29.8 RPGR RPE65 CHML BLOC1S1 ABCA4
9 bietti crystalline corneoretinal dystrophy 29.5 RPGR RPE65 CYP4V2 CHML ABCA4
10 inherited retinal disorder 29.3 RPGR RPE65 CYP4V2 CNGB3 CNGA3 CHM
11 cone dystrophy 29.1 RPGR RPE65 CNGB3 CNGA3 ABCA4
12 scotoma 29.1 RPGR RPE65 CYP4V2 CNGB3 CNGA3 ABCA4
13 pathologic nystagmus 28.9 RPGR RPE65 CNGB3 CNGA3 ABCA4
14 congenital stationary night blindness 28.9 RPGR RPE65 CNGB3 CNGA3 ABCA4
15 macular degeneration, age-related, 1 28.9 SERPINF1 RPGR RPE65 CNGB3 CNGA3 ABCA4
16 retinoschisis 1, x-linked, juvenile 28.7 RPGR RPE65 CNGB3 CNGA3 CHM ABCA4
17 stargardt disease 28.7 RPGR RPE65 CNGB3 CNGA3 CHM ABCA4
18 eye disease 28.7 SERPINF1 RPGR RPE65 CNGB3 CNGA3 BLOC1S1
19 fundus dystrophy 28.6 SERPINF1 RPGR RPE65 RAB6A CYP4V2 CNGB3
20 cone-rod dystrophy 2 28.5 RPGR RPE65 CYP4V2 CNGB3 CNGA3 ABCA4
21 leber plus disease 28.4 SERPINF1 RPGR RPE65 CNGB3 CNGA3 CHML
22 retinitis pigmentosa 28.1 SERPINF1 RPGR RPE65 RAB5A CYP4V2 CNGB3
23 choroideremia, deafness, and mental retardation 12.4
24 choroideremia hypopituitarism 12.3
25 ayazi syndrome 12.2
26 van den bosch syndrome 11.8
27 deafness, x-linked 2 11.7
28 retinitis pigmentosa 87 with choroidal involvement 11.4
29 laurence-moon syndrome 11.2
30 neuroretinitis 10.6
31 retinitis 10.6
32 sickle cell anemia 10.5
33 carotid stenosis 10.4
34 sickle cell disease 10.4
35 branchiootic syndrome 1 10.4
36 patent foramen ovale 10.3
37 transient cerebral ischemia 10.3
38 uveal disease 10.3 RPE65 CHML CHM
39 cerebrovascular disease 10.3
40 head injury 10.3
41 martsolf syndrome 10.3 RAB3A RAB1A CHM
42 macular holes 10.3
43 migraine with or without aura 1 10.3
44 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.3
45 deficiency anemia 10.3
46 headache 10.3
47 legionnaire disease 10.2 RAB7A RAB6A RAB5A
48 warburg micro syndrome 10.2 RAB7A RAB3A RAB27A
49 warburg micro syndrome 2 10.2 RAB3A AGFG1
50 retinal detachment 10.2

Graphical network of the top 20 diseases related to Choroideremia:



Diseases related to Choroideremia
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Symptoms & Phenotypes for Choroideremia

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Human phenotypes related to Choroideremia:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
2 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
3 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
4 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
5 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
6 visual impairment 58 Very frequent (99-80%)
7 abnormality of the eye 58 Very frequent (99-80%)
8 abnormality of vision 58 Very frequent (99-80%)
9 choroideremia 31 HP:0001139
10 constriction of peripheral visual field 31 HP:0001133
11 chorioretinal atrophy 31 HP:0000533
12 chorioretinal degeneration 31 HP:0200065

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
night blindness (occurs first)
constricted visual fields (occurs second)
reduced central vision (occurs last)
atrophy around the optic disc (in carrier females)
irregular pigmentation of fundus (in carrier females)
more

Clinical features from OMIM:

303100

GenomeRNAi Phenotypes related to Choroideremia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased CXCL12 induced migration GR00141-A 8.62 RAB27A RAB3A

MGI Mouse Phenotypes related to Choroideremia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.56 ABCA4 BLOC1S1 CHM RAB27A RABGGTA RPE65
2 vision/eye MP:0005391 9.32 ABCA4 BLOC1S1 CHM CNGA3 CNGB3 CYP4V2
Sources

Drugs & Therapeutics for Choroideremia

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
3 Hypolipidemic Agents Phase 1, Phase 2
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
5 Anticholesteremic Agents Phase 1, Phase 2
6 Lipid Regulating Agents Phase 1, Phase 2
7 Antimetabolites Phase 1, Phase 2
8
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
9
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
10
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
11 Vitamin B 6
12
Pyridoxal Experimental, Nutraceutical 66-72-8 1050
13
Arginine Investigational, Nutraceutical 74-79-3 6322

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
2 A Randomised, Open Label, Outcomes-Assessor Masked, Prospective, Parallel Controlled Group, Phase 3 Clinical Trial Of Retinal Gene Therapy For Choroideremia Using An Adeno-Associated Viral Vector (AAV2) Encoding Rab Escort Protein 1 (REP1) Active, not recruiting NCT03496012 Phase 3
3 An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein-1 (REP1) Completed NCT02077361 Phase 1, Phase 2
4 An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Completed NCT02553135 Phase 2
5 An Open Label Dose Escalation Phase 1 Clinical Trial of Retinal Gene Therapy for Choroideraemia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
6 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Acuity as the Primary Outcome Completed NCT00447993 Phase 2 NT-501;NT-501
7 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Field Sensitivity as the Primary Outcome Completed NCT00447980 Phase 2 NT-501;NT-501
8 A Phase 1/2 Safety Study in Subjects With CHM (Choroideremia) Gene Mutations Using an Adeno-Associated Virus Serotype 2 Vector to Deliver the Normal Human CHM Gene [AAV2-hCHM] to the Retina Active, not recruiting NCT02341807 Phase 1, Phase 2
9 An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Active, not recruiting NCT02407678 Phase 2
10 An Open-Label Safety Study of Retinal Gene Therapy for Choroideremia With Bilateral, Sequential Administration of Adeno-Associated Viral Vector (AAV2) Encoding Rab Escort Protein 1 (REP1) Active, not recruiting NCT03507686 Phase 2 AAV2-REP1
11 THOR - Tübingen Choroideremia Gene Therapy Trial Open Label Phase 2 Clinical Trial Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Active, not recruiting NCT02671539 Phase 2
12 A Repeated Measures Study of Simvastatin on Choroideremia: Simvastatin Intervention and Reversal in Choroideremia Patients and Age-matched Controls. Terminated NCT01654562 Phase 1, Phase 2 Simvastatin
13 Extended Pilot Study to Evaluate Pattern Recognition With a Chronic Retinal Implant System Unknown status NCT00427180
14 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy (Title in France: Compensation of Vision With the Intelligent Retinal Implant System (IRIS V1) in Patients With Retinal Dystrophy) Completed NCT01864486
15 Safety and Feasibility Study of a Prototype Suprachoroidal Retinal Prosthesis for Vision Restoration Completed NCT01603576
16 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
17 The Diagnosis, Pathogenesis and Treatment of Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
18 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
19 A Multicenter Prospective Observational "Natural History" Study in Patients With Choroideremia Active, not recruiting NCT02994368
20 Natural History of the Progression of Choroideremia Study Active, not recruiting NCT03359551
21 Evaluation of a Suprachoroidal Retinal Prosthesis: A 44 Channel Fully Implantable Study Active, not recruiting NCT03406416
22 A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects With Choroideremia Treated Previously With Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) in an Antecedent Study Enrolling by invitation NCT03584165
23 High Resolution Retinal Imaging Suspended NCT01866371
24 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Terminated NCT03561922

Search NIH Clinical Center for Choroideremia

Cochrane evidence based reviews: choroideremia

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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:

40
Eye, Retina, Testes, Pituitary, Brain, Liver, Lung
Sources

Publications for Choroideremia

About this section

Articles related to Choroideremia:

(show top 50) (show all 528)
# Title Authors PMID Year
1
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. 61 24 56 6
12827496 2003
2
Identification of mutations in Danish choroideremia families. 54 61 56 6
8477262 1993
3
Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. 56 6 61
24913019 2014
4
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. 56 6 61
21905166 2011
5
A new (old) deletion in the choroideremia gene. 6 56 61
8242078 1993
6
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. 56 6 61
1598901 1992
7
A practical diagnostic test for choroideremia. 24 56 61
9754170 1998
8
Aberrant splicing of the CHM gene is a significant cause of choroideremia. 24 61 56
1302003 1992
9
CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. 54 61 56
19764077 2009
10
Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. 54 56 61
17698759 2007
11
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. 54 6 61
9175730 1997
12
Linkage studies and deletion screening in choroideremia. 54 61 56
1976814 1990
13
Functional Defects in Color Vision in Patients With Choroideremia. 61 56
26133251 2015
14
Choroideremia carriers maintain a normal electro-oculogram (EOG). 61 54 24
17333094 2007
15
Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. 56 61
16410831 2006
16
Detection of localized retinal dysfunction in a choroideremia carrier. 56 61
14700671 2004
17
Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus. 54 24 61
12668061 2003
18
Choroideremia 61 6
20301511 2003
19
Mutational analysis of patients with the diagnosis of choroideremia. 61 24 54
12203991 2002
20
Rab GTPases, intracellular traffic and disease. 54 24 61
11796263 2002
21
Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. 56 61
11772598 2002
22
Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. 61 56
11297488 2001
23
Clinical and genetic features of choroideremia 56 61
10913657 2000
24
REP-1 gene mutations in Japanese patients with choroideremia. 24 54 61
10447648 1999
25
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. 61 54 24
9067750 1997
26
Cloning and characterization of the human choroideremia gene. 61 6
7981670 1994
27
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. 61 56
7981671 1994
28
REP-2, a Rab escort protein encoded by the choroideremia-like gene. 24 61 54
8294464 1994
29
Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. 61 56
8380507 1993
30
Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. 56 61
1525821 1992
31
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. 61 56
2220804 1990
32
DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. 56 61
2341150 1990
33
Choroideremia associated with an X-autosomal translocation. 61 56
2323779 1990
34
Haplotype and multipoint linkage analysis in Finnish choroideremia families. 61 56
2575071 1989
35
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. 61 56
3422216 1988
36
Deletion of the DXS165 locus in patients with classical choroideremia. 56 61
3481306 1987
37
Linkage relationships of X-linked choroideremia to DXYS1 and DXS3. 56 61
2890569 1987
38
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. 61 56
3476958 1987
39
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence. 61 56
2886237 1987
40
Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. 61 56
2883887 1987
41
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion. 61 56
3030927 1987
42
Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. 61 56
2878872 1986
43
Choroideremia-locus maps between DXS3 and DXS11 on Xq. 56 61
3755117 1986
44
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. 56 61
2988333 1985
45
X-linked choroidal sclerosis. A stage of choroideremia. 56 61
4827609 1974
46
Choroideremia and the Xg locus: another look for linkage. 56 61
5146581 1971
47
Choroideremia. Visual defects in a heterozygote. 61 56
5302677 1968
48
Choroideremia; clinical and genetic aspects. 56 61
12978235 1952
49
A hereditary and clinical study of choroideremia. 61 56
18901798 1948
50
High-resolution adaptive optics retinal imaging of cellular structure in choroideremia. 24 61
25190651 2014
Sources

Variations for Choroideremia

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ClinVar genetic disease variations for Choroideremia:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHM NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter)SNV Pathogenic 812267 X:85156124-85156124 X:85901119-85901119
2 CHM NM_000390.4(CHM):c.564_565del (p.Pro189fs)deletion Pathogenic 812269 X:85218807-85218808 X:85963802-85963803
3 CHM XM_024452331.1:c.-130_258deldeletion Pathogenic 812270
4 CHM NM_000390.4(CHM):c.819+1G>CSNV Pathogenic 812268 X:85213865-85213865 X:85958860-85958860
5 CHM NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter)indel Pathogenic 11148 rs132630263 X:85155705-85155706 X:85900700-85900701
6 CHM NM_000390.4(CHM):c.1484C>A (p.Ser495Ter)SNV Pathogenic 11149 rs132630264 X:85149219-85149219 X:85894214-85894214
7 CHM NM_000390.4(CHM):c.1471G>T (p.Glu491Ter)SNV Pathogenic 11150 rs132630265 X:85149232-85149232 X:85894227-85894227
8 CHM CHM, 1-BP DEL, GGA146GA, FS159TERdeletion Pathogenic 11151
9 CHM NM_000390.4(CHM):c.1580_1583TGTT[1] (p.Val529fs)short repeat Pathogenic 11152 rs587776746 X:85133992-85133995 X:85878987-85878990
10 CHM NM_000390.4(CHM):c.1497C>A (p.Cys499Ter)SNV Pathogenic 11153 rs132630267 X:85149206-85149206 X:85894201-85894201
11 CHM NM_000390.4(CHM):c.877C>T (p.Arg293Ter)SNV Pathogenic 11154 rs132630266 X:85212923-85212923 X:85957918-85957918
12 CHM CHM, L1 INSinsertion Pathogenic 11156
13 CHM NM_000390.4(CHM):c.1520A>G (p.His507Arg)SNV Pathogenic 39809 rs397514603 X:85134059-85134059 X:85879054-85879054
14 CHM NM_000390.4(CHM):c.1609+2dupduplication Pathogenic 56224 rs386833676 X:85133967-85133968 X:85878962-85878963
15 CHM NM_000390.4(CHM):c.808C>T (p.Arg270Ter)SNV Pathogenic 143078 rs527236048 X:85213877-85213877 X:85958872-85958872
16 CHM NM_000390.4(CHM):c.116+1G>ASNV Pathogenic 189189 rs786204761 X:85282494-85282494 X:86027490-86027490
17 CHM NM_000390.4(CHM):c.799C>T (p.Arg267Ter)SNV Pathogenic 279775 rs886041179 X:85213886-85213886 X:85958881-85958881
18 CHM NM_000390.4(CHM):c.715C>T (p.Arg239Ter)SNV Pathogenic 285756 rs776256380 X:85213970-85213970 X:85958965-85958965
19 CHM NM_000390.4(CHM):c.280del (p.Thr94fs)deletion Pathogenic 440813 rs1555958073 X:85233805-85233805 X:85978801-85978801
20 CHM NM_000390.4(CHM):c.820-2A>GSNV Pathogenic 449468 rs1556307713 X:85212982-85212982 X:85957977-85957977
21 CHM NM_000390.4(CHM):c.660del (p.Ile221fs)deletion Pathogenic 635551 X:85218712-85218712 X:85963707-85963707
22 CHM NM_000390.4(CHM):c.22G>T (p.Glu8Ter)SNV Pathogenic 635534 X:85302515-85302515 X:86047511-86047511
23 CHM NC_000023.10:g.85296959_85303375invinversion Pathogenic 635965 X:85296959-85303375
24 CHM NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)SNV Pathogenic 804045 X:85134006-85134006 X:85879001-85879001
25 CHM NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs)duplication Pathogenic 804046 X:85211267-85211268 X:85956262-85956263
26 CHM NM_000390.4(CHM):c.29_30del (p.Asp10fs)deletion Pathogenic 804047 X:85302507-85302508 X:86047503-86047504
27 CHM NM_000390.4(CHM):c.1A>G (p.Met1Val)SNV Likely pathogenic 370141 rs1057516265 X:85302536-85302536 X:86047532-86047532
28 CHM NM_000390.4(CHM):c.1645G>C (p.Ala549Pro)SNV Uncertain significance 804044 X:85128182-85128182 X:85873177-85873177
29 CHM NM_000390.4(CHM):c.189+5A>GSNV Uncertain significance 369952 rs757833413 X:85236736-85236736 X:85981732-85981732
30 CHM NM_000390.4(CHM):c.1511-6deldeletion Benign 811585 X:85134074-85134074 X:85879069-85879069
31 CHM NM_000390.4(CHM):c.265A>T (p.Ser89Cys)SNV Benign 377662 rs145707160 X:85233820-85233820 X:85978816-85978816

UniProtKB/Swiss-Prot genetic disease variations for Choroideremia:

73
# 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

Copy number variations for Choroideremia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 265570 X 84500000 86200000 Deletion REP-1 Choroideremia
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Expression for Choroideremia

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Search GEO for disease gene expression data for Choroideremia.
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Pathways for Choroideremia

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Pathways related to Choroideremia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Metabolism of proteins 65
Show member pathways
 13.56 RABGGTA RAB7A RAB6A RAB5A RAB3A RAB27A
2
Vesicle-mediated transport 65
Show member pathways
 13.06 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
3
Sertoli-Sertoli Cell Junction Dynamics 63
Show member pathways
 12.63 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
4
Cytoskeletal Signaling 4
12.29 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
5
Autophagy Pathway 66
11.92 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
6
Visual Cycle in Retinal Rods 63
11.64 RPE65 CNGB3 CNGA3
7
RAB GEFs exchange GTP for GDP on RABs 65
11.51 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
8
the visual cycle I (vertebrates) 1
Show member pathways
 11.35 RPE65 CYP4V2 ABCA4
9
TBC/RABGAPs 65
11.25 RAB7A RAB6A RAB5A
10
RAB geranylgeranylation 65
11.09 RABGGTA RAB7A RAB6A RAB5A RAB3A RAB27A
11
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) 22
10.54 RAB7A RAB27A
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 cytosol GO:0005829 10.23 UPF1 RABGGTA RAB7A RAB6A RAB5A RAB3A
2 endosome GO:0005768 9.88 RAB7A RAB5A RAB3A RAB27A RAB1A
3 secretory granule membrane GO:0030667 9.62 RAB7A RAB6A RAB3A RAB27A
4 melanosome GO:0042470 9.56 SERPINF1 RAB5A RAB27A RAB1A
5 photoreceptor outer segment GO:0001750 9.46 RPGR RAB27A CNGB3 ABCA4
6 melanosome membrane GO:0033162 9.43 RAB7A RAB27A
7 endomembrane system GO:0012505 9.43 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
8 anchored component of synaptic vesicle membrane GO:0098993 9.4 RAB5A RAB3A
9 transmembrane transporter complex GO:1902495 9.37 CNGB3 CNGA3
10 Rab-protein geranylgeranyltransferase complex GO:0005968 8.8 RABGGTA CHML CHM

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.92 RAB7A RAB6A RAB5A RAB3A RAB1A
2 response to stimulus GO:0050896 9.87 RPGR RPE65 CYP4V2 CNGB3 CNGA3 CHM
3 post-translational protein modification GO:0043687 9.85 RABGGTA RAB5A RAB3A RAB1A CHML CHM
4 vesicle-mediated transport GO:0016192 9.83 RAB6A RAB27A RAB1A CHML CHM
5 retinoid metabolic process GO:0001523 9.67 RPE65 CYP4V2 ABCA4
6 Rab protein signal transduction GO:0032482 9.63 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
7 intracellular protein transport GO:0006886 9.61 RPGR RAB7A RAB6A RAB5A RAB3A RAB27A
8 positive regulation of exocytosis GO:0045921 9.58 RAB5A RAB3A RAB27A
9 early endosome to late endosome transport GO:0045022 9.55 RAB7A RAB5A
10 melanosome transport GO:0032402 9.54 RAB27A RAB1A
11 synaptic vesicle transport GO:0048489 9.51 RAB3A RAB27A
12 synaptic vesicle recycling GO:0036465 9.48 RAB5A RAB3A
13 positive regulation of regulated secretory pathway GO:1903307 9.46 RAB3A RAB27A
14 protein geranylgeranylation GO:0018344 9.43 RABGGTA CHML CHM
15 visual perception GO:0007601 9.23 RPGR RPE65 RABGGTA CYP4V2 CNGB3 CNGA3

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.73 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
2 nucleotide binding GO:0000166 9.65 UPF1 RAB7A RAB6A RAB5A RAB3A RAB27A
3 GDP binding GO:0019003 9.61 RAB7A RAB5A RAB27A
4 cGMP binding GO:0030553 9.48 CNGB3 CNGA3
5 GDP-dissociation inhibitor activity GO:0005092 9.46 CHML CHM
6 intracellular cAMP-activated cation channel activity GO:0005222 9.4 CNGB3 CNGA3
7 intracellular cGMP-activated cation channel activity GO:0005223 9.37 CNGB3 CNGA3
8 myosin V binding GO:0031489 9.33 RAB6A RAB3A RAB27A
9 Rab geranylgeranyltransferase activity GO:0004663 9.32 RABGGTA CHM
10 GTPase activity GO:0003924 9.1 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
Sources

Sources for Choroideremia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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