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CHM
MCID: CHR081
MIFTS: 58

Choroideremia (CHM)

Categories: Blood diseases, Eye diseases, Genetic diseases, Mental 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 57 12 74 25 20 43 58 73 36 29 13 54 6 44 15 39 71
Chm 57 20 58 73
Tcd 57 20 43 73
Progressive Tapetochoroidal Dystrophy 20 43 73
Choroidal Sclerosis 43 71
Tapetochoroidal Dystrophy, Progressive; Tcd 57
Tapetochoroidal Dystrophy, Progressive 57
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®:

57 (Updated 05-Mar-2021)
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 Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:9821
OMIM® 57 303100
KEGG 36 H01116
ICD9CM 34 363.55
MeSH 44 D015794
NCIt 50 C34469
SNOMED-CT 67 75241009
ICD10 32 H31.21
MESH via Orphanet 45 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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MedlinePlus Genetics : 43 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 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 Hydroxymethylglutaryl-CoA Reductase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and pituitary, and related phenotypes are abnormality of retinal pigmentation and abnormal electroretinogram

GARD : 20 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) (Updated 05-Mar-2021)

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 181)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 31.2 RPE65 ABCA4
2 retinal disease 30.8 RPGR RPE65 PRPH2 ABCA4
3 retinitis 30.8 RPGR RPE65 PRPH2 ABCA4
4 night blindness 30.7 RPGR RPE65 PRPH2 CYP4V2 CHM ABCA4
5 retinal degeneration 30.5 SERPINF1 RPGR RPE65 PRPH2 CYP4V2 CHM
6 hereditary retinal dystrophy 30.3 RPE65 PRPH2 ABCA4
7 scotoma 30.3 RPGR RPE65 CYP4V2 ABCA4
8 hereditary choroidal atrophy 30.3 PRPH2 ABCA4
9 gyrate atrophy of choroid and retina 30.2 RPGR RPE65 PRPH2 CHM ABCA4
10 fundus dystrophy 30.2 SERPINF1 RPGR RPE65 RAB6A PRPH2 CYP4V2
11 eye disease 30.1 SERPINF1 RPGR RPE65 CHM BLOC1S1 ABCA4
12 retinoschisis 1, x-linked, juvenile 30.1 RPGR RPE65 CHM ABCA4
13 stargardt macular degeneration 30.1 PRPH2 ABCA4
14 oliver-mcfarlane syndrome 30.1 RPE65 CHM
15 choroidal dystrophy, central areolar, 1 30.0 RPE65 PRPH2 CYP4V2 CHM ABCA4
16 retinitis pigmentosa 30.0 SERPINF1 RPGR RPE65 RAB7A RAB6A RAB5A
17 macular degeneration, age-related, 1 30.0 SERPINF1 RPGR RPE65 PRPH2 CHM ABCA4
18 usher syndrome 30.0 RPGR RPE65 PRPH2 CHML BLOC1S1 ABCA4
19 pathologic nystagmus 29.9 RPGR RPE65 ABCA4
20 leber plus disease 29.9 SERPINF1 RPGR RPE65 PRPH2 CHM ABCA4
21 cone dystrophy 29.8 SERPINF1 RPGR RPE65 PRPH2 ABCA4
22 bietti crystalline corneoretinal dystrophy 29.8 RPGR RPE65 CYP4V2 CHML ABCA4
23 usher syndrome type 2 29.8 RPGR RPE65 PRPH2 ABCA4
24 congenital stationary night blindness 29.7 RPGR RPE65 PRPH2 ABCA4
25 stargardt disease 29.7 RPGR RPE65 PRPH2 CHM ABCA4
26 cone-rod dystrophy 2 29.5 RPGR RPE65 PRPH2 CYP4V2 CHM ABCA4
27 ayazi syndrome 11.4
28 van den bosch syndrome 11.2
29 choroideremia, deafness, and mental retardation 11.1
30 deafness, x-linked 2 11.1
31 retinitis pigmentosa 87 with choroidal involvement 11.1
32 choroideremia hypopituitarism 11.0
33 neuroretinitis 10.4
34 inherited retinal disorder 10.4
35 sickle cell anemia 10.3
36 warburg micro syndrome 2 10.3 RAB3A AGFG1
37 warburg micro syndrome 3 10.3 RAB3A AGFG1
38 deficiency anemia 10.3
39 warburg micro syndrome 10.3 RAB7A RAB3A RAB27A
40 partial central choroid dystrophy 10.3 PRPH2 ABCA4
41 charcot-marie-tooth disease, axonal, type 2l 10.3 RAB7A DCAF8
42 carpenter syndrome 1 10.3 RAB7A RAB6A RAB5A RAB27A
43 carotid stenosis 10.3
44 sickle cell disease 10.3
45 legionnaire disease 10.2 RAB7A RAB6A RAB5A RAB1A
46 uveal disease 10.2 RPE65 CHML CHM BLOC1S1
47 branchiootic syndrome 1 10.2
48 griscelli syndrome 10.2 RAB7A RAB3A RAB27A AGFG1
49 peripheral retinal degeneration 10.2 PRPH2 ABCA4
50 red-green color blindness 10.2 RPGR RPE65 ABCA4

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®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.61 ABCA4 BLOC1S1 CHM PRPH2 RAB27A RABGGTA
2 vision/eye MP:0005391 9.32 ABCA4 BLOC1S1 CHM CYP4V2 PRPH2 RAB27A
Sources

Drugs & Therapeutics for Choroideremia

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

(show all 6)
# 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 Hypolipidemic Agents Phase 1, Phase 2
4 Antimetabolites Phase 1, Phase 2
5 Lipid Regulating Agents Phase 1, Phase 2
6 Anticholesteremic Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 21)
# 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 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
3 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
4 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
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 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 BIIB111
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) Active, not recruiting NCT02407678 Phase 2
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 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
10 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
11 Extended Pilot Study to Evaluate Pattern Recognition With a Chronic Retinal Implant System Unknown status NCT00427180
12 Natural History of the Progression of Choroideremia Study Completed NCT03359551
13 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
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 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
17 Choroideremia Health Outcomes Recruiting NCT04750785
18 High Resolution Retinal Imaging Recruiting NCT01866371
19 A Multicenter Prospective Observational "Natural History" Study in Patients With Choroideremia Active, not recruiting NCT02994368
20 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
21 Evaluation of a Suprachoroidal Retinal Prosthesis: A 44 Channel Fully Implantable Study Enrolling by invitation NCT03406416

Search NIH Clinical Center for Choroideremia

Cochrane evidence based reviews: choroideremia

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Genetic Tests for Choroideremia

About this section

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, Pituitary, Brain, Liver, Lung, Monocytes
Sources

Publications for Choroideremia

About this section

Articles related to Choroideremia:

(show top 50) (show all 558)
# 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. 6 57 25 61
12827496 2003
2
Identification of mutations in Danish choroideremia families. 61 54 6 57
8477262 1993
3
Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. 61 6 57
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. 57 61 6
21905166 2011
5
A new (old) deletion in the choroideremia gene. 61 6 57
8242078 1993
6
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. 61 6 57
1598901 1992
7
A practical diagnostic test for choroideremia. 57 25 61
9754170 1998
8
Aberrant splicing of the CHM gene is a significant cause of choroideremia. 57 61 25
1302003 1992
9
CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. 57 54 61
19764077 2009
10
Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. 54 57 61
17698759 2007
11
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. 54 61 6
9175730 1997
12
Linkage studies and deletion screening in choroideremia. 54 57 61
1976814 1990
13
Functional Defects in Color Vision in Patients With Choroideremia. 57 61
26133251 2015
14
Choroideremia carriers maintain a normal electro-oculogram (EOG). 25 54 61
17333094 2007
15
Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. 57 61
16410831 2006
16
Detection of localized retinal dysfunction in a choroideremia carrier. 57 61
14700671 2004
17
Gene therapy for choroideremia: in vitro rescue mediated by recombinant adenovirus. 25 54 61
12668061 2003
18
Mutational analysis of patients with the diagnosis of choroideremia. 25 61 54
12203991 2002
19
Rab GTPases, intracellular traffic and disease. 54 25 61
11796263 2002
20
Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. 57 61
11772598 2002
21
Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. 57 61
11297488 2001
22
Clinical and genetic features of choroideremia 57 61
10913657 2000
23
REP-1 gene mutations in Japanese patients with choroideremia. 25 54 61
10447648 1999
24
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. 25 61 54
9067750 1997
25
Cloning and characterization of the human choroideremia gene. 61 6
7981670 1994
26
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. 57 61
7981671 1994
27
REP-2, a Rab escort protein encoded by the choroideremia-like gene. 25 54 61
8294464 1994
28
Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase. 61 57
8380507 1993
29
Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. 61 57
1525821 1992
30
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. 57 61
2220804 1990
31
DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. 61 57
2341150 1990
32
Choroideremia associated with an X-autosomal translocation. 57 61
2323779 1990
33
Haplotype and multipoint linkage analysis in Finnish choroideremia families. 61 57
2575071 1989
34
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. 57 61
3422216 1988
35
Deletion of the DXS165 locus in patients with classical choroideremia. 61 57
3481306 1987
36
Linkage relationships of X-linked choroideremia to DXYS1 and DXS3. 57 61
2890569 1987
37
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. 61 57
3476958 1987
38
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence. 61 57
2886237 1987
39
Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. 61 57
2883887 1987
40
Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion. 57 61
3030927 1987
41
Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. 57 61
2878872 1986
42
Choroideremia-locus maps between DXS3 and DXS11 on Xq. 61 57
3755117 1986
43
Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21. 61 57
2988333 1985
44
X-linked choroidal sclerosis. A stage of choroideremia. 57 61
4827609 1974
45
Choroideremia and the Xg locus: another look for linkage. 61 57
5146581 1971
46
Choroideremia. Visual defects in a heterozygote. 57 61
5302677 1968
47
Choroideremia; clinical and genetic aspects. 57 61
12978235 1952
48
A hereditary and clinical study of choroideremia. 61 57
18901798 1948
49
High-resolution adaptive optics retinal imaging of cellular structure in choroideremia. 61 25
25190651 2014
50
Adeno-associated virus 8-mediated gene therapy for choroideremia: preclinical studies in in vitro and in vivo models. 25 61
24962736 2014
Sources

Variations for Choroideremia

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ClinVar genetic disease variations for Choroideremia:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHM NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) Indel Pathogenic 11148 rs132630263 X:85155705-85155706 X:85900700-85900701
2 CHM NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) SNV Pathogenic 11149 rs132630264 X:85149219-85149219 X:85894214-85894214
3 CHM NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) SNV Pathogenic 11150 rs132630265 X:85149232-85149232 X:85894227-85894227
4 CHM CHM, 1-BP DEL, GGA146GA, FS159TER Deletion Pathogenic 11151
5 CHM NM_000390.4(CHM):c.1580_1583TGTT[1] (p.Val529fs) Microsatellite Pathogenic 11152 rs587776746 X:85133992-85133995 X:85878987-85878990
6 CHM CHM, L1 INS Insertion Pathogenic 11156
7 CHM NM_000390.4(CHM):c.1520A>G (p.His507Arg) SNV Pathogenic 39809 rs397514603 X:85134059-85134059 X:85879054-85879054
8 CHM NM_000390.4(CHM):c.1609+2dup Duplication Pathogenic 56224 rs386833676 X:85133967-85133968 X:85878962-85878963
9 CHM NM_000390.4(CHM):c.808C>T (p.Arg270Ter) SNV Pathogenic 143078 rs527236048 X:85213877-85213877 X:85958872-85958872
10 CHM NM_000390.4(CHM):c.280del (p.Thr94fs) Deletion Pathogenic 440813 rs1555958073 X:85233805-85233805 X:85978801-85978801
11 CHM NM_000390.4(CHM):c.22G>T (p.Glu8Ter) SNV Pathogenic 635534 rs1603288832 X:85302515-85302515 X:86047511-86047511
12 CHM NM_000390.4(CHM):c.660del (p.Ile221fs) Deletion Pathogenic 635551 rs1603264410 X:85218712-85218712 X:85963707-85963707
13 CHM NC_000023.10:g.85296959_85303375inv Inversion Pathogenic 635965 X:85296959-85303375
14 CHM NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) SNV Pathogenic 804045 rs1603236385 X:85134006-85134006 X:85879001-85879001
15 CHM NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) Duplication Pathogenic 804046 rs1603262410 X:85211267-85211268 X:85956262-85956263
16 CHM NM_000390.4(CHM):c.820-2A>G SNV Pathogenic 449468 rs1556307713 X:85212982-85212982 X:85957977-85957977
17 CHM NM_000390.4(CHM):c.29_30del (p.Asp10fs) Deletion Pathogenic 804047 rs1603288815 X:85302507-85302508 X:86047503-86047504
18 CHM NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs) Indel Pathogenic 813164 X:85218973-85218986 X:85963968-85963981
19 CHM NM_000390.4(CHM):c.419del (p.Pro140fs) Deletion Pathogenic 813165 X:85218953-85218953 X:85963948-85963948
20 CHM NM_000390.4(CHM):c.469C>T (p.Gln157Ter) SNV Pathogenic 813166 X:85218903-85218903 X:85963898-85963898
21 CHM NM_000390.4(CHM):c.496_497GC[3] (p.Leu167fs) Microsatellite Pathogenic 813167 X:85218872-85218873 X:85963867-85963868
22 CHM NM_000390.4(CHM):c.1413+1G>T SNV Pathogenic 813168 X:85155650-85155650 X:85900645-85900645
23 PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic 98713 rs281865373 6:42672100-42672100 6:42704362-42704362
24 CHM NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) SNV Pathogenic 812267 rs1603244690 X:85156124-85156124 X:85901119-85901119
25 CHM NM_000390.4(CHM):c.819+1G>C SNV Pathogenic 812268 rs1603263147 X:85213865-85213865 X:85958860-85958860
26 CHM NM_000390.4(CHM):c.799C>T (p.Arg267Ter) SNV Pathogenic 279775 rs886041179 X:85213886-85213886 X:85958881-85958881
27 CHM NM_000390.4(CHM):c.564_565del (p.Pro189fs) Deletion Pathogenic 812269 rs1603264449 X:85218807-85218808 X:85963802-85963803
28 CHM NM_000390.2:c.315_702del Deletion Pathogenic 812270
29 CHM NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) SNV Pathogenic 11153 rs132630267 X:85149206-85149206 X:85894201-85894201
30 CHM NM_000390.4(CHM):c.877C>T (p.Arg293Ter) SNV Pathogenic 11154 rs132630266 X:85212923-85212923 X:85957918-85957918
31 CHM NM_000390.4(CHM):c.715C>T (p.Arg239Ter) SNV Pathogenic 285756 rs776256380 X:85213970-85213970 X:85958965-85958965
32 CHM NM_000390.4(CHM):c.1A>G (p.Met1Val) SNV Likely pathogenic 370141 rs1057516265 X:85302536-85302536 X:86047532-86047532
33 CHM NM_000390.4(CHM):c.539del (p.Asn180fs) Deletion Likely pathogenic 930991 X:85218833-85218833 X:85963828-85963828
34 CHM NM_000390.4(CHM):c.116+1G>A SNV Likely pathogenic 189189 rs786204761 X:85282494-85282494 X:86027490-86027490
35 CHM NM_000390.4(CHM):c.189+5A>G SNV Uncertain significance 369952 rs757833413 X:85236736-85236736 X:85981732-85981732
36 CHM NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) SNV Uncertain significance 804044 rs1603234322 X:85128182-85128182 X:85873177-85873177
37 CHM NM_000390.4(CHM):c.1349+10C>T SNV Uncertain significance 702406 rs376129971 X:85156079-85156079 X:85901074-85901074
38 CHM NM_000390.4(CHM):c.1245-8_1245-6del Microsatellite Uncertain significance 707306 rs766694606 X:85156199-85156201 X:85901194-85901196
39 CHM NM_000390.4(CHM):c.1008T>C (p.Ile336=) SNV Uncertain significance 704633 rs749991144 X:85211316-85211316 X:85956311-85956311
40 CHM NM_000390.4(CHM):c.1782T>C (p.Leu594=) SNV Uncertain significance 796445 rs781107287 X:85119815-85119815 X:85864810-85864810
41 CHM NM_000390.4(CHM):c.502G>C (p.Glu168Gln) SNV Uncertain significance 989635 X:85218870-85218870 X:85963865-85963865
42 CHM NM_000390.4(CHM):c.926C>T (p.Pro309Leu) SNV Uncertain significance 844970 X:85212874-85212874 X:85957869-85957869
43 CHM NM_000390.4(CHM):c.825G>A (p.Pro275=) SNV Uncertain significance 702038 rs145268507 X:85212975-85212975 X:85957970-85957970
44 CHM NM_000390.4(CHM):c.582A>G (p.Glu194=) SNV Uncertain significance 787552 rs1444964030 X:85218790-85218790 X:85963785-85963785
45 CHM NM_000390.4(CHM):c.127T>C (p.Tyr43His) SNV Uncertain significance 966266 X:85236803-85236803 X:85981799-85981799
46 CHM NM_000390.4(CHM):c.10A>G (p.Thr4Ala) SNV Uncertain significance 989638 X:85302527-85302527 X:86047523-86047523
47 CHM NM_000390.4(CHM):c.498G>A (p.Ala166=) SNV Likely benign 989636 X:85218874-85218874 X:85963869-85963869
48 CHM NM_000390.4(CHM):c.1380T>C (p.Asp460=) SNV Likely benign 707222 rs138395490 X:85155684-85155684 X:85900679-85900679
49 CHM NM_000390.4(CHM):c.1641G>T (p.Leu547=) SNV Likely benign 702773 rs148301015 X:85128186-85128186 X:85873181-85873181
50 CHM NM_000390.4(CHM):c.957A>G (p.Thr319=) SNV Likely benign 198724 rs373242750 X:85211367-85211367 X:85956362-85956362

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 CHM Choroideremia
Sources

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:

# 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
RAB GEFs exchange GTP for GDP on RABs 65
11.51 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
7
the visual cycle I (vertebrates) 1
Show member pathways
 11.35 RPE65 CYP4V2 ABCA4
8
TBC/RABGAPs 65
11.25 RAB7A RAB6A RAB5A
9
RAB geranylgeranylation 65
11.09 RABGGTA RAB7A RAB6A RAB5A RAB3A RAB27A
10
wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) 23
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 10.13 UPF1 RABGGTA RAB7A RAB6A RAB5A RAB3A
2 endosome GO:0005768 9.83 RAB7A RAB5A RAB3A RAB27A RAB1A
3 secretory granule membrane GO:0030667 9.56 RAB7A RAB6A RAB3A RAB27A
4 melanosome GO:0042470 9.46 SERPINF1 RAB5A RAB27A RAB1A
5 melanosome membrane GO:0033162 9.4 RAB7A RAB27A
6 anchored component of synaptic vesicle membrane GO:0098993 9.37 RAB5A RAB3A
7 photoreceptor outer segment GO:0001750 9.26 RPGR RAB27A PRPH2 ABCA4
8 Rab-protein geranylgeranyltransferase complex GO:0005968 8.8 RABGGTA CHML CHM

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

(show all 16)
# 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 9.88 RPGR RPE65 PRPH2 CYP4V2 CHM ABCA4
3 vesicle-mediated transport GO:0016192 9.77 RAB6A RAB27A RAB1A CHML CHM
4 post-translational protein modification GO:0043687 9.7 RABGGTA RAB5A RAB3A RAB1A DCAF8 CHML
5 retina development in camera-type eye GO:0060041 9.67 SERPINF1 RPE65 PRPH2
6 retinoid metabolic process GO:0001523 9.65 RPE65 CYP4V2 ABCA4
7 early endosome to late endosome transport GO:0045022 9.56 RAB7A RAB5A
8 detection of light stimulus involved in visual perception GO:0050908 9.55 RPE65 PRPH2
9 melanosome transport GO:0032402 9.54 RAB27A RAB1A
10 synaptic vesicle transport GO:0048489 9.51 RAB3A RAB27A
11 positive regulation of exocytosis GO:0045921 9.5 RAB5A RAB3A RAB27A
12 intracellular protein transport GO:0006886 9.5 RPGR RAB6A RAB5A RAB3A RAB1A CHML
13 synaptic vesicle recycling GO:0036465 9.46 RAB5A RAB3A
14 positive regulation of regulated secretory pathway GO:1903307 9.43 RAB3A RAB27A
15 protein geranylgeranylation GO:0018344 9.43 RABGGTA CHML CHM
16 visual perception GO:0007601 9.17 RPGR RPE65 RABGGTA PRPH2 CYP4V2 CHM

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.97 UPF1 RAB7A RAB6A RAB5A RAB3A RAB27A
2 GTP binding GO:0005525 9.63 RAB7A RAB6A RAB5A RAB3A RAB27A RAB1A
3 GDP binding GO:0019003 9.5 RAB7A RAB5A RAB27A
4 GDP-dissociation inhibitor activity GO:0005092 9.4 CHML CHM
5 Rab geranylgeranyltransferase activity GO:0004663 9.26 RABGGTA CHM
6 myosin V binding GO:0031489 9.13 RAB6A RAB3A RAB27A
7 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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