MCID: CHR081
MIFTS: 53

Choroideremia malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Choroideremia

About this section
Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Choroideremia:

Name: Choroideremia 50 11 22 46 23 24 13 52 68 25 12 48 37 66
Progressive Tapetochoroidal Dystrophy 46 24 68
Tcd 46 24 68
Chm 46 52 68
 
Choroidal Sclerosis 24 66
Progressive Choroidal Atrophy 11
Tapetochoroidal Dystrophy 52

Characteristics:

Orphanet epidemiological data:

52
choroideremia:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

62
choroideremia:
Inheritance: x-linked dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 303100
Disease Ontology11 DOID:9821
ICD1028 H31.21
ICD9CM30 363.55
MeSH37 D015794
NCIt43 C34469
SNOMED-CT60 75241009
Orphanet52 ORPHA180
ICD10 via Orphanet29 H31.2
MESH via Orphanet38 D015794
UMLS via Orphanet67 C0008525

Summaries for Choroideremia

About this section
NIH Rare Diseases:46 Choroideremia is a genetic condition that causes vision loss. this disorder typically affects males. the first symptom is usually impairment of night vision (night blindness), which can occur in childhood. people with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). the vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). the vision issues tend to get worse over time and usually lead to blindness in late adulthood. the rate and degree of vision loss differs for each person. choroideremia is caused by spelling mistakes (mutations) in the chm gene and is inherited in an x-linked recessive pattern. last updated: 1/13/2016

MalaCards based summary: Choroideremia, also known as progressive tapetochoroidal dystrophy, is related to choroideremia, deafness, and mental retardation and choroideremia hypopituitarism, and has symptoms including visual impairment, abnormal electroretinogram and myopia. An important gene associated with Choroideremia is CHM (CHM, Rab Escort Protein 1), and among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and TP53 Regulates Transcription of Cell Death Genes. Affiliated tissues include eye, retina and testes, and related mouse phenotype pigmentation.

UniProtKB/Swiss-Prot:68 Choroideremia: An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy.

Genetics Home Reference:24 Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.

OMIM:50 Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment... (303100) more...

Wikipedia:69 Choroideremia /kɒˌrɔɪdᵻˈriːmi.ə/ (CHD) is a rare X-linked recessive inherited disorder giving... more...

GeneReviews summary for NBK1337

Related Diseases for Choroideremia

About this section

Graphical network of the top 20 diseases related to Choroideremia:



Diseases related to choroideremia

Symptoms for Choroideremia

About this section

Symptoms by clinical synopsis from OMIM:

303100

Clinical features from OMIM:

303100

Symptoms:

 52 (show all 8)
  • abnormality of the eye
  • abnormality of vision
  • visual impairment
  • abnormal electroretinogram
  • progressive visual loss
  • myopia
  • night blindness
  • abnormal retinal pigmentation

HPO human phenotypes related to Choroideremia:

(show all 12)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 myopia hallmark (90%) HP:0000545
4 nyctalopia hallmark (90%) HP:0000662
5 abnormality of retinal pigmentation hallmark (90%) HP:0007703
6 visual impairment typical (50%) HP:0000505
7 progressive visual loss HP:0000529
8 chorioretinal atrophy HP:0000533
9 nyctalopia HP:0000662
10 constriction of peripheral visual field HP:0001133
11 choroideremia HP:0001139
12 chorioretinal degeneration HP:0200065

Drugs & Therapeutics for Choroideremia

About this section

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinPhase 1, Phase 250379902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
2
Pyridoxal Phosphate1454-47-71051
Synonyms:
(4-Formyl-5-hydroxy-6-methyl(3-pyridyl))methyl dihydrogen phosphate
(4-formyl-5-hydroxy-6-methyl-3-pyridinyl)methyl dihydrogen phosphate
(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate
2-Methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine-5-calcium phosphate
2-Methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine-5-calcium phosphate trihydrate
2-Methyl-3-hydroxy-4-formyl-5-pyridylmethylphosphoric acid
3-Hydroxy-2-methyl-5-((phosphonooxy)methyl)-4-pyridinecarboxaldehyde
3-Hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate
3-hydroxy-2-methyl-5-((phosphonooxy)methyl)-4-pyridinecarboxaldehyde
3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate
4-Formyl-5-hydroxy-6-methyl-pyridin-3-yl)methoxyphosphonic acid
4-Pyridinecarboxaldehyde, 3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]- (9CI)
52064-48-9
52441-27-7
54-47-7
A26BDB6A-282A-4D13-A916-7B2B215B0FD6
AC1L1AM8
AC1Q2P2R
Apolon B(sub 6)
Apolon B6
Biosechs
C00018
CHEBI:18405
CHEMBL82202
CID1051
Codecarboxylase
Coenzyme B6
DB00114
EINECS 200-208-3
HI-Pyridoxin
Hairoxal
Hexermin P
Hexermin-P
Hi-Pyridoxin
Hiadelon
Himitan
Isonicotinaldehyde, 3-hydroxy-5-(hydroxymethyl)-2-methyl-, 5-(dihydrogen phosphate)
LS-134383
MolPort-003-939-335
NCGC00166300-01
NSC 82388
NSC82388
P-5'-P
PAL-P
PLP
PYRIDOXAL-5-PHOSPHATE
Pal-P
Phosphopyridoxal
Phosphopyridoxal coenzyme
Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester
 
Phosphoridoxal coenzyme
Pidopidon
Piodel
Pydoxal
Pyrido
Pyridoxal 5'-(dihydrogen phosphate)
Pyridoxal 5'-phosphate
Pyridoxal 5'-phosphate hydrate
Pyridoxal 5'-phosphate monohydrate - Vitamin B6
Pyridoxal 5'-phosphate monohydrate, vitamin B6
Pyridoxal 5-monophosphoric acid ester
Pyridoxal 5-phosphate
Pyridoxal P
Pyridoxal monophosphate
Pyridoxal phosphate
Pyridoxal phosphate (6CI)
Pyridoxal phosphate [JAN]
Pyridoxal phosphate anhydrous
Pyridoxal phosphate treated .beta.-lactoglobulin from bovine whey
Pyridoxal, 5-(dihydrogen phosphate)
Pyridoxal, 5-(dihydrogen phosphate) (8CI)
Pyridoxal, 5-(dihydrogenphosphate)
Pyridoxal-5'-phosphate
Pyridoxal-5-Phosphate Hydrate
Pyridoxal-5-monophosphate
Pyridoxal-5P
Pyridoxal-P
Pyridoxaldehyde phosphate
Pyridoxyl phosphate
Pyromijin
SBB065295
SGCUT00188
SRI 2392
Sechvitan
Sechvitan, Vitahexin P
TL8005582
VITAMIN B6 COMPLEX
Vitahexin P
Vitahexin-P
Vitamin B6 phosphate
Vitamin B6 phosphate (ester)
Vitazechs
bmse000111
nchembio.237-comp3
nchembio.266-comp20
nchembio861-comp1
pyridoxal 5-monophosphoric acid ester
pyridoxal 5'-phosphate
pyridoxal 5-phosphate
pyridoxal phosphate
pyridoxal-5P
pyridoxal-P
to_000077
3
PyridoxineNutraceutical18065-23-61054
Synonyms:
(5-hydroxy-4,6-dimethylpyridin-3-yl)methyl phosphate
12001-78-4
2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin [German]
2-Methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-Methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine
2-methyl-3-hydroxy-4,5-bis(hydroxy-methyl) pyridine
2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-methyl-4,5-dimethylol-pyridin-3-ol
2B3E07D2-E4CC-4CC5-B085-6070BA01F9F0
3,4-Pyridinedimethanol, 5-hydroxy-6-methyl-, hydrochloride
3-Hydroxy-2-Picoline-4,5-dimethanol
3-Hydroxy-4,5-dihydroxymethyl-2-methylpyridine hydrochloride
3-Hydroxy-4,5-dimethylol-.alpha.-picoline hydrochloride
3-Hydroxy-4,5-dimethylol-alpha-picoline
3-Hydroxy-4,5-dimethylol-alpha-picoline hydrochloride
3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine
4,5-Bis(hydroxymethyl)-2-methyl-3-pyridinol
4,5-Bis(hydroxymethyl)-2-methylpyridin-3-ol hydrochloride
4,5-bis(hydroxymethyl)-2-methyl-3-pyridinol hydrochloride
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol
4,5-bis(hydroxymethyl)-2-methylpyridine-3-ol
4-Deoxypyridoxine 5'-phosphate
47862_SUPELCO
5-Hydroxy-6-methyl-3,4-pyridinedicarbinol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol
5-Hydroxy-6-methyl-3,4-pyridinedimethanol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol, hydrochloride
58-56-0
58-56-0 (HCL)
58-56-0 (hydrochloride)
65-23-6
65-23-6 (Parent)
8059-24-3
85078-23-5
AC-12024
AC-14512
AC-907/25014218
AC1L1AMH
AC1L1LMI
AC1L2XK2
AC1Q22HP
AC1Q2G66
AC1Q3F63
AI3-19016
AIDS-006784
AIDS006784
AR-1A6363
AR-1J1632
Adermin hydrochloride
Adermine
Adermine hydrochloride
Aderomine hydrochloride
Aderoxin
Aderoxine
Alestrol
BB_NC-0050
BIDD:PXR0180
BPBio1_000646
BSPBio_000586
Becilan
Beesix
Benadon
Bonasanit
C00314
C8H11NO3
CAS-58-56-0
CBDivE_015627
CCRIS 1903
CHEBI:16709
CHEBI:30961
CHEMBL1200756
CHEMBL1364
CID104817
CID1054
CID6019
CPD0-1221
Campoviton 6
Cernevit-12
D02179
D025101
D08454
DB00165
EINECS 200-386-2
EINECS 200-603-0
EINECS 232-503-8
Godabion
Gravidox
HMS1569N08
HMS2093L07
HSDB 1212
Hexa-Betalin
Hexa-Betalin (R)
Hexa-betalin (TN)
Hexabetalin
Hexabione hydrochloride
 
Hexavibex
Hexermin
Hexermine
Hexobion
Hydoxin
I02-1897
I02-2297
KST-1A8556
LS-134393
LS-187072
LS-2332
MLS001074329
MLS002153915
MolPort-002-137-856
MolPort-002-319-991
MolPort-005-933-330
NCGC00016261-01
NCGC00164317-01
NCGC00180946-01
NSC 36225
NSC36225
NSC36225 (HCL)
Nestrex
Oprea1_061614
P0561
P4722_SIAL
P5669_SIGMA
P6280_SIGMA
P8666_SIGMA
P9755_SIAL
PN
PN HCl
PYRIDOXINE HYDROCHLORIDE
PYRIDOXINE HYDROCHLORIDE, U.S.P.
Paxadon
Piridossina
Piridossina [DCIT]
Piridoxina
Piridoxina [INN-Spanish]
Prestwick0_000623
Prestwick1_000623
Prestwick2_000623
Prestwick3_000623
Prestwick_925
Pydox
Pyridipca
Pyridox
Pyridoxin
Pyridoxin hydrochloride
Pyridoxine
Pyridoxine (INN)
Pyridoxine HCl
Pyridoxine Hydrochloride (B6)
Pyridoxine [INN:BAN]
Pyridoxine chloride
Pyridoxine hydrochloride (JP15/USP)
Pyridoxine hydrochloride [USAN:JAN]
Pyridoxine hydrogen chloride
Pyridoxine monohydrochloride
Pyridoxine, hydrochloride
Pyridoxine-HCl Microencapsulated
Pyridoxinium chloride
Pyridoxinum
Pyridoxinum [INN-Latin]
Pyridoxinum hydrochloricum
Pyridoxinum hydrochloricum (Hungarian)
Pyridoxol
Pyridoxol hydrochloride
Pyridoxol, hydrochloride
Pyridoxolum
Rodex
Rodex (R)
Rodex TD
SMP2_000230
SMR000674613
SPBio_002805
STK177324
STOCK1N-08684
Spondylonal
Tex Six T.R.
TimTec1_000657
UNII-68Y4CF58BV
UNII-KV2JZ1BI6Z
Vitamin B 6
Vitamin B6
Vitamin B6-hydrochloride
Vitamin V6
Vitamin V6 (TN)
Vitamin-?B6
Vitamin-?B6 hydrochloride
Vitaped
WLN: T6NJ B1 CQ D1Q E1Q &GH
ZINC00049154
ZINC21983293
bmse000288
c1302
component of Alestrol
nchembio.93-comp1
pyridoxine
vitamin B6
4
ornithineNutraceutical6770-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
5arginineNutraceutical393
6
PyridoxalNutraceutical17966-72-81050
Synonyms:
2-methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine
3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methyl-4-pyridinecarboxaldehyde
 
3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
Piridoxal
Pyridoxal
Pyridoxaldehyde

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis PigmentosaCompletedNCT00447993Phase 2, Phase 3
2A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis PigmentosaCompletedNCT00447980Phase 2, Phase 3
3Safety and Dose Escalation Study of AAV2-hCHM in Subjects With CHM (Choroideremia) Gene MutationsRecruitingNCT02341807Phase 1, Phase 2
4An Open Label Clinical Trial of Retinal Gene Therapy for ChoroideremiaActive, not recruitingNCT02077361Phase 1, Phase 2
5Choroideremia Gene Therapy Clinical TrialActive, not recruitingNCT02553135Phase 2
6Gene Therapy for Blindness Caused by ChoroideremiaActive, not recruitingNCT01461213Phase 1, Phase 2
7THOR - Tübingen Choroideremia Gene Therapy TrialEnrolling by invitationNCT02671539Phase 2
8REP1 Gene Replacement TherapyNot yet recruitingNCT02407678Phase 2
9The Short-term Effects of Simvastatin on the Vision of Males Affected by ChoroideremiaTerminatedNCT01654562Phase 1, Phase 2
10Pilot Study of a Suprachoroidal Retinal ProsthesisCompletedNCT01603576
11Gyrate Atrophy of the Choroid and RetinaCompletedNCT00001166
12Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
13Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal DystrophyRecruitingNCT02670980
14High Resolution Retinal ImagingRecruitingNCT01866371
15Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal DystrophyActive, not recruitingNCT01864486
16IRIS PILOT - Extended Pilot Study With a Retinal Implant SystemActive, not recruitingNCT00427180

Search NIH Clinical Center for Choroideremia


Cochrane evidence based reviews: choroideremia

Genetic Tests for Choroideremia

About this section

Genetic tests related to Choroideremia:

id Genetic test Affiliating Genes
1 Choroideremia25 23 CHM

Anatomical Context for Choroideremia

About this section

MalaCards organs/tissues related to Choroideremia:

34
Eye, Retina, Testes, Pituitary, Endothelial, Monocytes, Brain

Animal Models for Choroideremia or affiliated genes

About this section

MGI Mouse Phenotypes related to Choroideremia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9CHM, RAB27A, RABGGTA

Publications for Choroideremia

About this section

Articles related to Choroideremia:

(show top 50)    (show all 236)
idTitleAuthorsYear
1
Correlation of Optical Coherence Tomography and Autofluorescence in the Outer Retina and Choroid of Patients With Choroideremia. (27403996)
2016
2
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. (27070432)
2016
3
Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa. (26216097)
2015
4
Genetic analysis of choroideremia families in the Australian population. (25912515)
2015
5
Rab GTPase Prenylation Hierarchy and Its Potential Role in Choroideremia Disease. (24358126)
2013
6
Clinical utility gene card for: Choroideremia. (23963298)
2013
7
Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants. (20861657)
2011
8
Retinal nerve fiber thickness measurements in choroideremia patients with spectral-domain optical coherence tomography. (21268676)
2011
9
Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). (22076985)
2011
10
Cystic macular oedema on spectral-domain optical coherence tomography in choroideremia patients without cystic changes on fundus examination. (20966974)
2011
11
Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia. (22025891)
2011
12
CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. (19764077)
2009
13
Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. (19597113)
2009
14
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. (18487380)
2008
15
Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. (17698759)
2007
16
Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia. (17360570)
2007
17
Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. (16410831)
2006
18
Fundus appearance of choroideremia using optical coherence tomograpy. (17249555)
2006
19
Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene. (15579993)
2004
20
Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells. (14983050)
2004
21
Clinical findings in a carrier of a new mutation in the choroideremia gene. (15465555)
2004
22
Clinical diagnoses that overlap with choroideremia. (12956277)
2003
23
Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa. (11772598)
2002
24
Macular pigment and lutein supplementation in choroideremia. (12014918)
2002
25
Progression of defects in the central 10-degree visual field of patients with retinitis pigmentosa and choroideremia. (10218696)
1999
26
Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene. (9894161)
1998
27
Unusual macular findings in a known choroideremia carrier. (9850276)
1998
28
Update on a diagnostic test for choroideremia: the protein truncation test (PTT)]. (9759428)
1998
29
First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online. (10651486)
1998
30
Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene. (9678418)
1998
31
Intraocular light scatter in patients with choroideremia. (9754171)
1998
32
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. (9175730)
1997
33
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. (9067750)
1997
34
A highly polymorphic microsatellite marker located within the choroideremia gene. (8905853)
1996
35
Human choroideremia protein contains a FAD-binding domain. (8589712)
1996
36
Identification of mutations in Danish choroideremia families. (8477262)
1993
37
Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives. (8500262)
1993
38
Aberrant splicing of the CHM gene is a significant cause of choroideremia. (1302003)
1992
39
Choroideremia: linkage analysis with physically mapped close DNA-markers. (1677924)
1991
40
Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. (2798422)
1989
41
Choroideremia associated with a subretinal neovascular membrane. Case report. (2442805)
1987
42
Electroretinographic findings in selected pedigrees with choroideremia. (3953730)
1986
43
Choroideremia: a clinical, electron microscopic, and biochemical report. (6089068)
1984
44
X-linked choroidal sclerosis. A stage of choroideremia. (4827609)
1974
45
Choroideremia (progressive chorioretinal degeneration). (5741530)
1968
46
Choroideremia. Visual defects in a heterozygote. (5302677)
1968
47
Choroideremia and the Xg blood group. (5694668)
1968
48
The electroretinogram in choroideremia. (13228525)
1955
49
Choroideremia. (13012548)
1952
50
A hereditary and clinical study of choroideremia. (18901798)
1948

Variations for Choroideremia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Choroideremia:

68
id Symbol AA change Variation ID SNP ID
1CHMp.Gln471LeuVAR_008273
2CHMp.His507ArgVAR_066847rs397514603
3CHMp.Leu550ProVAR_066848

Clinvar genetic disease variations for Choroideremia:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1CHMNM_000390.3(CHM): c.1358_1359delCCinsGA (p.Ser453Ter)indelPathogenicrs132630263GRCh37Chr X, 85155705: 85155706
2CHMNM_000390.3(CHM): c.1484C> A (p.Ser495Ter)single nucleotide variantPathogenicrs132630264GRCh37Chr X, 85149219: 85149219
3CHMNM_000390.3(CHM): c.1471G> T (p.Glu491Ter)single nucleotide variantPathogenicrs132630265GRCh37Chr X, 85149232: 85149232
4CHMCHM, 1-BP DEL, GGA146GA, FS159TERdeletionPathogenic
5CHMNM_000390.3(CHM): c.1584_1587delTGTT (p.Val529Hisfs)deletionPathogenicrs587776746GRCh37Chr X, 85133992: 85133995
6CHMNM_000390.3(CHM): c.1497C> A (p.Cys499Ter)single nucleotide variantPathogenicrs132630267GRCh37Chr X, 85149206: 85149206
7CHMNM_000390.3(CHM): c.877C> T (p.Arg293Ter)single nucleotide variantPathogenicrs132630266GRCh37Chr X, 85212923: 85212923
8CHMCHM, L1 INSinsertionPathogenic
9CHMNM_000390.3(CHM): c.808C> T (p.Arg270Ter)single nucleotide variantPathogenicrs527236048GRCh37Chr X, 85213877: 85213877
10CHMNM_000390.3(CHM): c.116+1G> Asingle nucleotide variantLikely pathogenicrs786204761GRCh37Chr X, 85282494: 85282494
11CHMNM_000390.3(CHM): c.1520A> G (p.His507Arg)single nucleotide variantPathogenicrs397514603GRCh37Chr X, 85134059: 85134059
12CHMNM_000390.3(CHM): c.1609+2dupTduplicationPathogenicrs386833676GRCh37Chr X, 85133968: 85133968

Copy number variations for Choroideremia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
126557008450000086200000DeletionREP-1Choroideremia

Expression for genes affiliated with Choroideremia

About this section
Search GEO for disease gene expression data for Choroideremia.

Pathways for genes affiliated with Choroideremia

About this section

GO Terms for genes affiliated with Choroideremia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:00057709.7RAB27A, RAB7A
2Rab-protein geranylgeranyltransferase complexGO:00059689.4CHM, CHML, RABGGTA
3lysosomeGO:00057648.9ARSA, RAB27A, RAB7A

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

idNameGO IDScoreTop Affiliating Genes
1protein geranylgeranylationGO:00183449.4CHM, CHML, RABGGTA
2positive regulation of GTPase activityGO:00435479.3AGFG1, CHM, CHML
3small GTPase mediated signal transductionGO:00072648.5CHM, CHML, RAB27A, RAB7A

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

idNameGO IDScoreTop Affiliating Genes
1GDP-dissociation inhibitor activityGO:000509210.2CHM, CHML
2GDP bindingGO:001900310.0RAB27A, RAB7A
3oxidoreductase activityGO:00164919.9CHM, CHML
4Rab geranylgeranyltransferase activityGO:00046639.7CHM, RABGGTA
5GTPase activator activityGO:00050969.3AGFG1, CHM, CHML
6Rab GTPase bindingGO:00171378.8CHM, CHML, RABGGTA

Sources for Choroideremia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet