CHM
MCID: CHR081
MIFTS: 59

Choroideremia (CHM)

Categories: Blood diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Choroideremia

MalaCards integrated aliases for Choroideremia:

Name: Choroideremia 57 11 24 19 42 58 75 73 28 12 53 5 43 14 38 71
Chm 57 19 58 73
Tcd 57 19 42 73
Progressive Tapetochoroidal Dystrophy 19 42 73
Choroidal Sclerosis 42 71
Tapetochoroidal Dystrophy, Progressive 57
Progressive Choroidal Atrophy 11
Tapetochoroidal Dystrophy 58

Characteristics:


Inheritance:

X-linked recessive 58 , X-linked 57

Prevelance:

1-9/100000 (Europe) 58

Age Of Onset:

Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in second to third decade
carrier females show a distinct flecked autofluorescence pattern


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:9821
OMIM® 57 303100
ICD9CM 34 363.55
MeSH 43 D015794
NCIt 49 C34469
SNOMED-CT 68 75241009
MESH via Orphanet 44 D015794
ICD10 via Orphanet 32 H31.2
UMLS via Orphanet 72 C0008525
Orphanet 58 ORPHA180
UMLS 71 C0008525 C0344297

Summaries for Choroideremia

MedlinePlus Genetics: 42 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 peripheral retinal degeneration and retinal disease. 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 Simvastatin and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related phenotypes are abnormality of retinal pigmentation and abnormal electroretinogram

GARD: 19 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 rate and degree of vision loss differs for each person. Choroideremia is caused by genetic changes (pathogenic variants) 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.

Wikipedia: 75 Choroideremia (/kɒˌrɔɪdɪˈriːmiə/; CHM) is a rare, X-linked recessive form of hereditary retinal... more...

GeneReviews: NBK1337

Related Diseases for Choroideremia

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

(show top 50) (show all 217)
# Related Disease Score Top Affiliating Genes
1 peripheral retinal degeneration 31.3 RPGR RPE65
2 retinal disease 31.0 RPGR RPE65 PRPH2 MIR361
3 retinitis 31.0 RPGR RPE65 PRPH2
4 retinal degeneration 30.9 RPGR RPE65 PRPH2 CYP4V2 CHM AGFG1
5 night blindness 30.9 RPGR RPE65 PRPH2 CYP4V2 CHM
6 choroidal dystrophy, central areolar, 1 30.9 RPGR RPE65 PRPH2 CYP4V2
7 fundus dystrophy 30.6 RPGR RPE65 RAB6A PRPH2 CYP4V2 CHML
8 bietti crystalline corneoretinal dystrophy 30.4 RPGR RPE65 CYP4V2
9 scotoma 30.4 RPGR RPE65 PRPH2 CYP4V2
10 progressive cone dystrophy 30.3 RPGR PRPH2
11 hereditary retinal dystrophy 30.3 RPE65 PRPH2
12 refractive error 30.3 RPGR RPE65 BLOC1S1
13 hereditary choroidal atrophy 30.3 RPE65 PRPH2 CYP4V2
14 retinoschisis 1, x-linked, juvenile 30.3 RPGR RPE65 PRPH2 CHM
15 gyrate atrophy of choroid and retina 30.3 RPGR RPE65 PRPH2 CYP4V2 CHM
16 macular dystrophy, dominant cystoid 30.3 RPGR RPE65
17 color blindness 30.2 RPGR RPE65 PRPH2
18 late-onset retinal degeneration 30.2 RPGR RPE65 PRPH2
19 eye disease 30.2 RPGR RPE65 PRPH2 MIR361 CHM BLOC1S1
20 macular degeneration, age-related, 1 30.2 RPGR RPE65 PRPH2 CHM BLOC1S1
21 usher syndrome type 2 30.2 RPGR RPE65 PRPH2
22 usher syndrome 30.1 RPGR RPE65 PRPH2 CHML CHM BLOC1S1
23 oliver-mcfarlane syndrome 30.1 RPE65 CHM
24 leber plus disease 30.1 RPGR RPE65 PRPH2 CYP4V2 CHML CHM
25 neuronal ceroid lipofuscinosis 30.0 RPE65 RAB7A RAB5A ARSA
26 stargardt disease 29.8 RPGR RPE65 PRPH2 CYP4V2 CHM
27 leber congenital amaurosis 4 29.7 RPE65 PRPH2
28 cone-rod dystrophy 2 29.6 RPGR RPE65 RAB3A PRPH2 CYP4V2 CHM
29 ayazi syndrome 11.5
30 chromosome xq21 deletion syndrome 11.4
31 van den bosch syndrome 11.3
32 deafness, x-linked 2 11.1
33 retinitis pigmentosa 87 with choroidal involvement 11.1
34 tapetoretinal degeneration with ataxia 11.1
35 choroideremia hypopituitarism 11.0
36 retinitis pigmentosa 10.5
37 keratomalacia 10.5
38 inherited retinal disorder 10.5
39 sickle cell anemia 10.4
40 stroke, ischemic 10.4
41 deficiency anemia 10.3
42 cerebrovascular disease 10.3
43 patent foramen ovale 10.3
44 sickle cell disease 10.3
45 partial central choroid dystrophy 10.3 RPE65 PRPH2 CYP4V2
46 night blindness, congenital stationary, type 1a 10.3
47 carotid stenosis 10.3
48 transient cerebral ischemia 10.3
49 red-green color blindness 10.3 RPGR RPE65
50 retinitis pigmentosa 30 10.3 RPGR CYP4V2

Graphical network of the top 20 diseases related to Choroideremia:



Diseases related to Choroideremia

Symptoms & Phenotypes for Choroideremia

Human phenotypes related to Choroideremia:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007703
2 abnormal electroretinogram 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000512
3 myopia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000545
4 nyctalopia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000662
5 progressive visual loss 58 30 Very rare (1%) Frequent (79-30%)
HP:0000529
6 hypopigmentation of the fundus 30 Very rare (1%) HP:0007894
7 constriction of peripheral visual field 30 Very rare (1%) HP:0001133
8 attenuation of retinal blood vessels 30 Very rare (1%) HP:0007843
9 bone spicule pigmentation of the retina 30 Very rare (1%) HP:0007737
10 granular macular appearance 30 Very rare (1%) HP:0007793
11 nummular pigmentation of the fundus 30 Very rare (1%) HP:0030505
12 visual impairment 58 Very frequent (99-80%)
13 abnormality of the eye 58 Very frequent (99-80%)
14 abnormality of vision 58 Very frequent (99-80%)
15 choroideremia 30 HP:0001139
16 chorioretinal atrophy 30 HP:0000533

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Choroideremia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.5 BLOC1S1 CHM PRPH2 RAB27A RABGGTA RPE65
2 vision/eye MP:0005391 9.28 ARSA BLOC1S1 CHM CYP4V2 PRPH2 RAB27A

Drugs & Therapeutics for Choroideremia

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
2 Antimetabolites Phase 1, Phase 2
3 Hypolipidemic Agents Phase 1, Phase 2
4 Anticholesteremic Agents Phase 1, Phase 2
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
6 Lipid Regulating Agents Phase 1, Phase 2
7
Vitamin A Approved, Nutraceutical, Vet_approved 22737-96-8, 68-26-8 5280382 445354
8 Vitamins
9 Trace Elements
10 Antioxidants
11 Micronutrients
12 Retinol palmitate
13 Protective Agents

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 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) Completed NCT03496012 Phase 3
2 A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects With Choroideremia Previously Treated With Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects With X-Linked Retinitis Pigmentosa Previously Treated With Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study Enrolling by invitation NCT03584165 Phase 3
3 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 Completed NCT02341807 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 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
6 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) Completed NCT02671539 Phase 2
7 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 NCT02407678 Phase 2
8 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) Completed NCT03507686 Phase 2 BIIB111
9 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
10 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
11 Phase 1 Open-Label, Dose-Escalation Study of the Safety, Tolerability and Preliminary Efficacy of Intravitreal 4D-110 in Patients With Choroideremia Recruiting NCT04483440 Phase 1
12 Extended Pilot Study to Evaluate Pattern Recognition With a Chronic Retinal Implant System Unknown status NCT00427180
13 Natural History of the Progression of Choroideremia Study Completed NCT03359551
14 Choroideremia Health Outcomes Completed NCT04750785
15 A Retrospective Cohort Analysis of the Natural Disease Progression of Patients With Choroideremia in Real-World Clinical Practice Completed NCT04795206
16 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
17 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
18 Safety and Feasibility Study of a Prototype Suprachoroidal Retinal Prosthesis for Vision Restoration Completed NCT01603576
19 Evaluation of a Suprachoroidal Retinal Prosthesis: A 44 Channel Fully Implantable Study Completed NCT03406416
20 High Resolution Retinal Imaging Recruiting NCT01866371
21 Structural and Functional Characterization of Rare Ocular Diseases Recruiting NCT05258032
22 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940
23 Longitudinal Observation and Assessment of the Suprachoroidal Retinal Prostheses Enrolling by invitation NCT05158049
24 Characterization of Night Vision Impairment in Choroideremia and Short-Term Vitamin A Supplementation: The Dark-Adapted Retinal Function Response in Choroideremia (DARC) Study Not yet recruiting NCT05045703
25 A Multicenter Prospective Observational "Natural History" Study in Patients With Choroideremia Terminated NCT02994368

Search NIH Clinical Center for Choroideremia

Cochrane evidence based reviews: choroideremia

Genetic Tests for Choroideremia

Genetic tests related to Choroideremia:

# Genetic test Affiliating Genes
1 Choroideremia 28 CHM

Anatomical Context for Choroideremia

Organs/tissues related to Choroideremia:

MalaCards : Eye, Retina, Bone, Pituitary, Monocytes, Lung, Endothelial

Publications for Choroideremia

Articles related to Choroideremia:

(show top 50) (show all 653)
# Title Authors PMID Year
1
Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. 62 24 57 5
24913019 2014
2
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. 62 24 57 5
12827496 2003
3
Identification of mutations in Danish choroideremia families. 53 62 57 5
8477262 1993
4
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. 62 57 5
21905166 2011
5
Mutational analysis of patients with the diagnosis of choroideremia. 53 62 24 5
12203991 2002
6
A new (old) deletion in the choroideremia gene. 62 57 5
8242078 1993
7
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. 62 57 5
1598901 1992
8
Cloning and characterization of the human choroideremia gene. 62 24 5
7981670 1994
9
CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. 53 62 57
19764077 2009
10
Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. 53 62 57
17698759 2007
11
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. 53 62 5
16936131 2006
12
Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. 53 62 5
16087855 2005
13
REP-1 gene mutations in Japanese patients with choroideremia. 53 62 5
10447648 1999
14
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. 53 62 5
9175730 1997
15
Linkage studies and deletion screening in choroideremia. 53 62 57
1976814 1990
16
Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants. 62 5
33110609 2020
17
Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. 62 5
29555028 2018
18
Novel CHM mutations identified in Chinese families with Choroideremia. 62 5
27739455 2016
19
Functional Defects in Color Vision in Patients With Choroideremia. 62 57
26133251 2015
20
L1 retrotransposition can occur early in human embryonic development. 53 62 24
17483097 2007
21
Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. 62 57
16410831 2006
22
Detection of localized retinal dysfunction in a choroideremia carrier. 62 57
14700671 2004
23
Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. 62 57
11772598 2002
24
Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. 62 57
11297488 2001
25
Clinical and genetic features of choroideremia 62 57
10913657 2000
26
A practical diagnostic test for choroideremia. 62 57
9754170 1998
27
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. 62 57
7981671 1994
28
Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. 62 57
8380507 1993
29
Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. 62 57
1525821 1992
30
Aberrant splicing of the CHM gene is a significant cause of choroideremia. 62 57
1302003 1992
31
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. 62 57
2220804 1990
32
Choroideremia associated with an X-autosomal translocation. 62 57
2323779 1990
33
DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. 62 57
2341150 1990
34
Haplotype and multipoint linkage analysis in Finnish choroideremia families. 62 57
2575071 1989
35
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. 62 57
3422216 1988
36
Deletion of the DXS165 locus in patients with classical choroideremia. 62 57
3481306 1987
37
Linkage relationships of X-linked choroideremia to DXYS1 and DXS3. 62 57
2890569 1987
38
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. 62 57
3476958 1987
39
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence. 62 57
2886237 1987
40
Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. 62 57
2883887 1987
41
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion. 62 57
3030927 1987
42
Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. 62 57
2878872 1986
43
Choroideremia-locus maps between DXS3 and DXS11 on Xq. 62 57
3755117 1986
44
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. 62 57
2988333 1985
45
X-linked choroidal sclerosis. A stage of choroideremia. 62 57
4827609 1974
46
Choroideremia and the Xg locus: another look for linkage. 62 57
5146581 1971
47
Choroideremia. Visual defects in a heterozygote. 62 57
5302677 1968
48
Choroidal sclerosis; a possible intermediate sex-linked form. 62 57
13293325 1956
49
Choroideremia; clinical and genetic aspects. 62 57
12978235 1952
50
A hereditary and clinical study of choroideremia. 62 57
18901798 1948

Variations for Choroideremia

ClinVar genetic disease variations for Choroideremia:

5 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHM NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) INDEL Pathogenic
11148 rs132630263 GRCh37: X:85155705-85155706
GRCh38: X:85900700-85900701
2 CHM NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) SNV Pathogenic
11150 rs132630265 GRCh37: X:85149232-85149232
GRCh38: X:85894227-85894227
3 CHM NM_000390.4(CHM):c.1520A>G (p.His507Arg) SNV Pathogenic
39809 rs397514603 GRCh37: X:85134059-85134059
GRCh38: X:85879054-85879054
4 CHM NM_000390.4(CHM):c.280del (p.Thr94fs) DEL Pathogenic
440813 rs1555958073 GRCh37: X:85233805-85233805
GRCh38: X:85978801-85978801
5 CHM NM_000390.4(CHM):c.660del (p.Ile221fs) DEL Pathogenic
635551 rs1603264410 GRCh37: X:85218712-85218712
GRCh38: X:85963707-85963707
6 CHM NC_000023.10:g.85296959_85303375inv INVERS Pathogenic
635965 GRCh37: X:85296960-85303374
GRCh38: X:86041956-86048370
7 CHM NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) SNV Pathogenic
804045 rs1603236385 GRCh37: X:85134006-85134006
GRCh38: X:85879001-85879001
8 CHM NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) DUP Pathogenic
804046 rs1603262410 GRCh37: X:85211267-85211268
GRCh38: X:85956262-85956263
9 CHM NM_000390.4(CHM):c.820-2A>G SNV Pathogenic
449468 rs1556307713 GRCh37: X:85212982-85212982
GRCh38: X:85957977-85957977
10 CHM NM_000390.4(CHM):c.29_30del (p.Asp10fs) DEL Pathogenic
804047 rs1603288815 GRCh37: X:85302507-85302508
GRCh38: X:86047503-86047504
11 CHM NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) SNV Pathogenic
812267 rs1603244690 GRCh37: X:85156124-85156124
GRCh38: X:85901119-85901119
12 CHM NM_000390.4(CHM):c.819+1G>C SNV Pathogenic
812268 rs1603263147 GRCh37: X:85213865-85213865
GRCh38: X:85958860-85958860
13 CHM NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs) INDEL Pathogenic
813164 rs1930439753 GRCh37: X:85218973-85218986
GRCh38: X:85963968-85963981
14 CHM NM_000390.4(CHM):c.419del (p.Pro140fs) DEL Pathogenic
813165 rs1930438584 GRCh37: X:85218953-85218953
GRCh38: X:85963948-85963948
15 CHM NM_000390.4(CHM):c.469C>T (p.Gln157Ter) SNV Pathogenic
813166 rs1930431885 GRCh37: X:85218903-85218903
GRCh38: X:85963898-85963898
16 CHM NM_000390.4(CHM):c.498_499dup (p.Leu167fs) MICROSAT Pathogenic
813167 rs1930428430 GRCh37: X:85218872-85218873
GRCh38: X:85963867-85963868
17 CHM NM_000390.4(CHM):c.232C>T (p.Gln78Ter) SNV Pathogenic
1178351 GRCh37: X:85233853-85233853
GRCh38: X:85978849-85978849
18 CHM NM_000390.4(CHM):c.856C>T (p.Gln286Ter) SNV Pathogenic
1213973 GRCh37: X:85212944-85212944
GRCh38: X:85957939-85957939
19 CHM NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) SNV Pathogenic
1213974 GRCh37: X:85211258-85211258
GRCh38: X:85956253-85956253
20 CHM NM_000390.4(CHM):c.703-2A>G SNV Pathogenic
1330296 GRCh37: X:85213984-85213984
GRCh38: X:85958979-85958979
21 CHM NM_000390.4(CHM):c.846dup (p.Asn283Ter) DUP Pathogenic
1330298 GRCh37: X:85212953-85212954
GRCh38: X:85957948-85957949
22 CHM NM_000390.4(CHM):c.187C>T (p.Gln63Ter) SNV Pathogenic
1675198 GRCh37: X:85236743-85236743
GRCh38: X:85981739-85981739
23 CHM NM_000390.4(CHM):c.808C>T (p.Arg270Ter) SNV Pathogenic
143078 rs527236048 GRCh37: X:85213877-85213877
GRCh38: X:85958872-85958872
24 CHM NM_000390.4(CHM):c.1350-1G>A SNV Pathogenic
1685630 GRCh37: X:85155715-85155715
GRCh38: X:85900710-85900710
25 CHM NM_000390.4(CHM):c.961del (p.Tyr321fs) DEL Pathogenic
1685631 GRCh37: X:85211363-85211363
GRCh38: X:85956358-85956358
26 CHM NM_000390.4(CHM):c.437T>G (p.Leu146Ter) SNV Pathogenic
1685632 GRCh37: X:85218935-85218935
GRCh38: X:85963930-85963930
27 CHM NM_000390.4(CHM):c.1680del (p.Ser561fs) DEL Pathogenic
546493 rs1556207100 GRCh37: X:85128147-85128147
GRCh38: X:85873142-85873142
28 CHM NM_000390.4(CHM):c.799C>T (p.Arg267Ter) SNV Pathogenic
279775 rs886041179 GRCh37: X:85213886-85213886
GRCh38: X:85958881-85958881
29 CHM NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer) DUP Pathogenic
1691447 GRCh37: X:85218981-85218982
GRCh38: X:85963976-85963977
30 CHM NM_000390.4(CHM):c.564_565del (p.Pro189fs) DEL Pathogenic
812269 rs1603264449 GRCh37: X:85218807-85218808
GRCh38: X:85963802-85963803
31 CHM NM_000390.4(CHM):c.1166+1G>C SNV Pathogenic
1075553 GRCh37: X:85211157-85211157
GRCh38: X:85956152-85956152
32 CHM NM_000390.4(CHM):c.652_655del (p.Ser218fs) DEL Pathogenic
937037 rs1930413413 GRCh37: X:85218717-85218720
GRCh38: X:85963712-85963715
33 CHM NM_000390.2:c.315_702del DEL Pathogenic
812270 GRCh37:
GRCh38:
34 CHM NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT INSERT Pathogenic
11156 GRCh37:
GRCh38:
35 CHM NM_000390.4(CHM):c.1446del (p.Gly483fs) DEL Pathogenic
866059 rs1244003380 GRCh37: X:85149257-85149257
GRCh38: X:85894252-85894252
36 CHM NM_000390.4(CHM):c.1609+2dup DUP Pathogenic
56224 rs386833676 GRCh37: X:85133967-85133968
GRCh38: X:85878962-85878963
37 CHM NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) SNV Pathogenic
11149 rs132630264 GRCh37: X:85149219-85149219
GRCh38: X:85894214-85894214
38 CHM NM_000390.4(CHM):c.877C>T (p.Arg293Ter) SNV Pathogenic
11154 rs132630266 GRCh37: X:85212923-85212923
GRCh38: X:85957918-85957918
39 CHM NM_000390.4(CHM):c.715C>T (p.Arg239Ter) SNV Pathogenic
285756 rs776256380 GRCh37: X:85213970-85213970
GRCh38: X:85958965-85958965
40 CHM NM_000390.4(CHM):c.22G>T (p.Glu8Ter) SNV Pathogenic
635534 rs1603288832 GRCh37: X:85302515-85302515
GRCh38: X:86047511-86047511
41 CHM NM_000390.4(CHM):c.1413+1G>T SNV Pathogenic
813168 rs1926202120 GRCh37: X:85155650-85155650
GRCh38: X:85900645-85900645
42 CHM NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) DEL Pathogenic
871857 rs1924193863 GRCh37: X:85128172-85128176
GRCh38: X:85873167-85873171
43 CHM NM_000390.4(CHM):c.1584_1587del (p.Val529fs) MICROSAT Pathogenic
11152 rs587776746 GRCh37: X:85133992-85133995
GRCh38: X:85878987-85878990
44 PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic
98713 rs281865373 GRCh37: 6:42672100-42672100
GRCh38: 6:42704362-42704362
45 CHM NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) SNV Pathogenic
11153 rs132630267 GRCh37: X:85149206-85149206
GRCh38: X:85894201-85894201
46 CHM NM_000390.4(CHM):c.315-1536A>G SNV Likely Pathogenic
438064 rs1555955061 GRCh37: X:85220593-85220593
GRCh38: X:85965588-85965588
47 CHM NM_000390.4(CHM):c.82_83del (p.Ser28fs) DEL Likely Pathogenic
1724007 GRCh37: X:85282528-85282529
GRCh38: X:86027524-86027525
48 CHM NM_000390.4(CHM):c.70_71insAGACAGT (p.Ala24fs) INSERT Likely Pathogenic
1725429 GRCh37: X:85282540-85282541
GRCh38: X:86027536-86027537
49 CHM NM_000390.4(CHM):c.129T>A (p.Tyr43Ter) SNV Likely Pathogenic
1725523 GRCh37: X:85236801-85236801
GRCh38: X:85981797-85981797
50 CHM NM_000390.4(CHM):c.1186G>T (p.Gly396Ter) SNV Likely Pathogenic
1725706 GRCh37: X:85166324-85166324
GRCh38: X:85911319-85911319

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:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 265570 X 84500000 86200000 Deletion CHM 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 RABGGTB RABGGTA RAB7A RAB6A RAB5A RAB3A
2
Show member pathways
13.07 AGFG1 BLOC1S1 CHM CHML RAB1A RAB27A
3
Show member pathways
12.63 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
4 12.29 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
5
Show member pathways
12.11 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
6
Show member pathways
11.97 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
7
Show member pathways
11.65 RABGGTB RABGGTA CHM
8 11.14 RABGGTB RABGGTA RAB7A RAB6A RAB5A RAB3A
9 10.93 RAB7A RAB3A
10 10.82 RABGGTB RABGGTA
11 10.51 RAB7A RAB27A

GO Terms for Choroideremia

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.97 RAB7A RAB3A RAB27A BLOC1S1 ARSA
2 endosome GO:0005768 9.86 ARSA RAB1A RAB27A RAB3A RAB5A RAB7A
3 photoreceptor outer segment GO:0001750 9.85 RPGR RAB27A PRPH2
4 secretory granule membrane GO:0030667 9.76 RAB7A RAB6A RAB3A RAB27A
5 Rab-protein geranylgeranyltransferase complex GO:0005968 9.23 RABGGTB RABGGTA CHML CHM
6 obsolete anchored component of synaptic vesicle membrane GO:0098993 9.13 RAB7A RAB5A RAB3A

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.98 RPGR RPE65 PRPH2 CYP4V2 CHM
2 vesicle-mediated transport GO:0016192 9.97 RAB6A RAB27A RAB1A CHML CHM
3 intracellular protein transport GO:0006886 9.93 RPGR RAB6A RAB5A RAB3A RAB1A CHML
4 visual perception GO:0007601 9.8 RPGR RPE65 RABGGTB RABGGTA PRPH2 CYP4V2
5 synaptic vesicle recycling GO:0036465 9.78 RAB5A RAB3A
6 regulation of endosome size GO:0051036 9.76 RAB5A BLOC1S1
7 positive regulation of exocytosis GO:0045921 9.73 RAB27A RAB3A RAB5A
8 positive regulation of regulated secretory pathway GO:1903307 9.67 RAB3A RAB27A
9 protein prenylation GO:0018342 9.58 RABGGTB RABGGTA
10 protein geranylgeranylation GO:0018344 9.23 RABGGTB RABGGTA CHML CHM

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 small GTPase binding GO:0031267 10.1 RABGGTB RABGGTA RAB7A CHML CHM
2 GTP binding GO:0005525 10.1 RAB1A RAB27A RAB3A RAB5A RAB6A RAB7A
3 GTPase activity GO:0003924 10.03 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
4 hydrolase activity GO:0016787 10 UPF1 RPE65 RAB7A RAB5A RAB27A RAB1A
5 GDP binding GO:0019003 9.95 RAB7A RAB5A RAB27A
6 GDP-dissociation inhibitor activity GO:0005092 9.8 CHML CHM
7 myosin V binding GO:0031489 9.63 RAB6A RAB3A RAB27A
8 G protein activity GO:0003925 9.56 RAB7A RAB5A RAB27A RAB1A
9 prenyltransferase activity GO:0004659 9.43 RABGGTB RABGGTA
10 protein prenyltransferase activity GO:0008318 9.37 RABGGTB RABGGTA
11 Rab geranylgeranyltransferase activity GO:0004663 9.1 RABGGTB RABGGTA CHM

Sources for Choroideremia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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