MCID: CHR081
MIFTS: 50

Choroideremia malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Choroideremia

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Choroideremia:

Name: Choroideremia 49 10 11 21 45 22 23 47 12 51 67 36 24 65
Progressive Tapetochoroidal Dystrophy 45 23 67
Chm 45 51 67
Tcd 45 23 67
 
Choroidal Sclerosis 23 65
Progressive Choroidal Atrophy 10
Tapetochoroidal Dystrophy 51

Characteristics:

Orphanet epidemiological data:

51
choroideremia:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

61
choroideremia:
Inheritance: x-linked dominant inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 303100
Disease Ontology10 DOID:9821
ICD1027 H31.21
ICD9CM29 363.55
MeSH36 D015794
NCIt42 C34469
SNOMED-CT59 75241009
Orphanet51 180
ICD10 via Orphanet28 H31.2
MESH via Orphanet37 D015794
UMLS via Orphanet66 C0008525
UMLS65 C0008525

Summaries for Choroideremia

About this section
NIH Rare Diseases:45 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 choroidal sclerosis and choroideremia, deafness, and mental retardation, and has symptoms including abnormality of retinal pigmentation, nyctalopia and myopia. An important gene associated with Choroideremia is CHM (CHM, Rab Escort Protein 1), and among its related pathways is wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). Affiliated tissues include eye, retina and breast, and related mouse phenotypes are pigmentation and vision/eye.

UniProtKB/Swiss-Prot:67 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:23 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:49 Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment... (303100) more...

Wikipedia:68 Choroideremia /kɒˌrɔɪdᵻˈriːmi.ə/ (CHD) is a rare X-linked recessive inherited disorder giving... more...

GeneReviews summary for NBK1337

Related Diseases for Choroideremia

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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:

 51 (show all 8)
  • anomalies of eyes and vision
  • retinitis pigmentosa/retinal pigmentary changes
  • night blindness/hemeralopia
  • mild visual loss/impaired visual acuity
  • myopia
  • abnormal erg/electroretinogram/electroretinography
  • x-linked recessive inheritance
  • visual loss/blindness/amblyopia

HPO human phenotypes related to Choroideremia:

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

Drugs & Therapeutics for Choroideremia

About this section

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 1, Phase 249379902-63-954454
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
2Anticholesteremic AgentsPhase 1, Phase 21732
3AntimetabolitesPhase 1, Phase 29454
4Hypolipidemic AgentsPhase 1, Phase 22228
5Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21804
6
Pyridoxalapproved, nutraceutical16365-22-5, 66-72-81050
Synonyms:
3-HYDROXY-5-(hydroxymethyl)-2-methylisonicotinaldehyde
 
3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
Pyridoxal
Pyridoxaldehyde
7
Pyridoxineapproved, nutraceutical16565-23-61054
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
Pyridoxine Hydrochloride (B6)
Pyridoxine [INN:BAN]
Pyridoxine chloride
Pyridoxine hydrochloride
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
8
Ornithineapproved, nutraceutical6370-26-86262
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
9Vitamin B 6165
10arginineNutraceutical364
11
Pyridoxal Phosphatenutraceutical1454-47-71051
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
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 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

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 Choroideremia22 CHM

Anatomical Context for Choroideremia

About this section

MalaCards organs/tissues related to Choroideremia:

33
Eye, Retina, Breast, T cells, Monocytes, Prostate, Lung

Animal Models for Choroideremia or affiliated genes

About this section

MGI Mouse Phenotypes related to Choroideremia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.3CHM, NDP, RAB27A, RABGGTA, RPE65
2MP:00053917.9CHM, CNGB3, NDP, RAB27A, RPE65
3MP:00036317.1ARSA, CHM, CNGB3, NDP, POU3F4, RAB27A

Publications for Choroideremia

About this section

Articles related to Choroideremia:

(show top 50)    (show all 221)
idTitleAuthorsYear
1
Correction: Xiang, S., et al. Schisandrin B Induces Apoptosis and Cell Cycle Arrest of Gallbladder Cancer Cells. Molecules 2014, 19, 13235-13250. (27213323)
2016
2
Percutaneous transcatheter embolization of gastrointestinal bleeding in a child with polyarteritis nodosa. (25512765)
2014
3
Lethal pulmonary thromboembolism: An autopsy-based study on a rare but legally relevant event. (24003084)
2013
4
Vitamin D and nonalcoholic fatty liver disease (NAFLD): is it more than just an association? (23504808)
2013
5
Machine learning approach for the outcome prediction of temporal lobe epilepsy surgery. (23646148)
2013
6
Factor IX activity/antigen ratio and the risk of first unprovoked venous thromboembolism. (23446552)
2013
7
Pheochromocytoma and Paraganglioma: progress on all fronts. (22246920)
2012
8
Primary effusion lymphoma-like lymphoma with polycystic kidney disease. (22802562)
2012
9
First presentation of Addison's disease in the 2nd trimester of pregnancy. (21534762)
2011
10
Associations of vitamin d binding protein gene polymorphisms with the development of peripheral arthritis and uveitis in ankylosing spondylitis. (21844150)
2011
11
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. (21723463)
2011
12
Identification and characterization of an inhibitory metal ion-binding site in ferrochelatase. (20966079)
2010
13
Mid-dermal elastolysis revisited. (19936772)
2010
14
Microarray profile of micro-ribonucleic acid in tumor tissue from cervical squamous cell carcinoma without human papillomavirus. (20149030)
2009
15
Pharmacokinetic, pharmacodynamic, and efficacy profiles of alogliptin, a novel inhibitor of dipeptidyl peptidase-4, in rats, dogs, and monkeys. (18538760)
2008
16
Expression of APP pathway mRNAs and proteins in Alzheimer's disease. (17586478)
2007
17
A dominant-negative form of mouse SOX2 induces trophectoderm differentiation and progressive polyploidy in mouse embryonic stem cells. (17507372)
2007
18
Elucidation of human choline kinase crystal structures in complex with the products ADP or phosphocholine. (17007874)
2006
19
Biochemical and NMR study on the competition between proteins SC35, SRp40, and heterogeneous nuclear ribonucleoprotein A1 at the HIV-1 Tat exon 2 splicing site. (16990281)
2006
20
Unusual magnetic resonance imaging and cerebrospinal fluid findings in paraneoplastic cerebellar degeneration: a sequential study. (16543544)
2006
21
Developing a disease activity tool for systemic-onset juvenile idiopathic arthritis by international consensus using the Delphi approach. (16159950)
2005
22
Intranasal oxytocin administration attenuates the ACTH stress response in monkeys. (15946803)
2005
23
From clinical evidence to molecular mechanisms underlying neuroprotection afforded by estrogens. (15967377)
2005
24
Glucose ingestion during exercise blunts exercise-induced gene expression of skeletal muscle fat oxidative genes. (16030063)
2005
25
Receptor epitope usage by an interleukin-5 mimetic peptide. (15826943)
2005
26
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. (16007612)
2005
27
Human flavin-containing monooxygenase form 2 S-oxygenation: sulfenic acid formation from thioureas and oxidation of glutathione. (15144220)
2004
28
Fulminant varicella infection complicated with acute respiratory distress syndrome, and disseminated intravascular coagulation in an immunocompetent young adult. (15645661)
2004
29
Combined treatment with vigabatrin and topiramate in West syndrome. (15224711)
2004
30
Expression and function of Toll-like receptors in eosinophils: activation by Toll-like receptor 7 ligand. (14530316)
2003
31
Pityriasis lichenoides: a clonal T-cell lymphoproliferative disorder. (12203210)
2002
32
Ruthenium-mediated cycloaromatization of acyclic enediynes and dienynes at ambient temperature. (11929230)
2002
33
Induction and inhibition of aromatase (CYP19) activity by various classes of pesticides in H295R human adrenocortical carcinoma cells. (12127262)
2002
34
The GABA transporter and its inhibitors. (10911018)
2000
35
Regulatable expression of p21-activated kinase-1 promotes anchorage-independent growth and abnormal organization of mitotic spindles in human epithelial breast cancer cells. (10945974)
2000
36
Reduced human growth hormone (hGH) bioactivity without a defect of the GH-1 gene in three patients with rhGH responsive growth failure. (10468970)
1999
37
Intensive treatment of children with acute lymphoblastic leukemia according to ALL-BFM-86 without cranial radiotherapy: results of Dutch Childhood Leukemia Study Group Protocol ALL-7 (1988-1991). (10438710)
1999
38
Poor recovery sleep after sleep deprivation in delayed sleep phase syndrome. (10459687)
1999
39
Saquinavir pharmacokinetics alone and in combination with ritonavir in HIV-infected patients. (9084785)
1997
40
Identification of the human aldolase A gene as the first induced target for the TR2 orphan receptor, a member of the steroid hormone receptor superfamily. (9196064)
1997
41
Investigation of the phenylethanolamine N-methyltransferase gene as a candidate gene for hypertension. (7558218)
1995
42
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. (8160746)
1994
43
Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27. (1883411)
1991
44
Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase. (2401370)
1990
45
Cutaneous anthrax. (2124398)
1990
46
DNA sequence of HLA-A11: remarkable homology with HLA-A3 allows identification of residues involved in epitopes recognized by antibodies and T cells. (2437024)
1987
47
Renal hypoplasia and dysplasia in infants with posterior urethral valves. (7189794)
1980
48
Mycotic aneurysm of the sinus of Valsalva in a case of subacute bacterial endocarditis. (14832905)
1951
49
Recurrent mumps versus recurrent parotitis; case reports. (18858679)
1948
50

Variations for Choroideremia

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UniProtKB/Swiss-Prot genetic disease variations for Choroideremia:

67
id Symbol AA change Variation ID SNP ID
1CHMp.Gln471LeuVAR_008273
2CHMp.His507ArgVAR_066847
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

Expression for genes affiliated with Choroideremia

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Search GEO for disease gene expression data for Choroideremia.

Pathways for genes affiliated with Choroideremia

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Pathways related to Choroideremia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.7RAB27A, RAB7A

GO Terms for genes affiliated with Choroideremia

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

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:00057709.7RAB27A, RAB7A

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

idNameGO IDScoreTop Affiliating Genes
1protein geranylgeranylationGO:00183449.9CHM, RABGGTA
2visual perceptionGO:00076019.4NDP, RPE65

Sources for Choroideremia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet