CHM
MCID: CHR081
MIFTS: 54

Choroideremia (CHM) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Choroideremia

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Choroideremia:

Name: Choroideremia 52 11 23 48 24 25 54 70 27 12 50 39 13 68
Progressive Tapetochoroidal Dystrophy 48 25 70
Chm 48 54 70
Tcd 48 25 70
 
Choroidal Sclerosis 25 68
Progressive Choroidal Atrophy 11
Tapetochoroidal Dystrophy 54

Characteristics:

Orphanet epidemiological data:

54
choroideremia:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

64
choroideremia:
Inheritance: x-linked dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 303100
Disease Ontology11 DOID:9821
ICD1030 H31.21
ICD9CM32 363.55
MeSH39 D015794
NCIt45 C34469
SNOMED-CT62 75241009
Orphanet54 ORPHA180
ICD10 via Orphanet31 H31.2
MESH via Orphanet40 D015794
UMLS via Orphanet69 C0008525

Summaries for Choroideremia

About this section
NIH Rare Diseases:48 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 Array, Array and Array. 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 RAB GEFs exchange GTP for GDP on RABs. Affiliated tissues include eye, retina and testes, and related mouse phenotype pigmentation.

Genetics Home Reference:25 Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.

OMIM:52 Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment... (303100) more...

UniProtKB/Swiss-Prot:70 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:71 Choroideremia /kɒˌrɔɪdᵻˈriːmi.ə/ (CHM) is a rare, X-linked recessive form of... more...

GeneReviews 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 & Phenotypes for Choroideremia

About this section

Symptoms by clinical synopsis from OMIM:

303100

Clinical features from OMIM:

303100

Human phenotypes related to Choroideremia:

 54 64 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the eye54 Very frequent (99-80%)
2 abnormality of vision54 Very frequent (99-80%)
3 visual impairment64 54 Very frequent (99-80%) HP:0000505
4 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
5 progressive visual loss64 54 Frequent (79-30%) HP:0000529
6 myopia64 54 Very frequent (99-80%) HP:0000545
7 night blindness54 Very frequent (99-80%)
8 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703
9 chorioretinal atrophy64 HP:0000533
10 nyctalopia64 HP:0000662
11 constriction of peripheral visual field64 HP:0001133
12 choroideremia64 HP:0001139
13 chorioretinal degeneration64 HP:0200065

MGI Mouse Phenotypes related to Choroideremia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.3CHM, RAB27A, RABGGTA, SERPINF1

Drugs & Therapeutics for Choroideremia

About this section

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 1, Phase 251979902-63-954454
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
2AntimetabolitesPhase 1, Phase 212054
3Anticholesteremic AgentsPhase 1, Phase 22025
4Lipid Regulating AgentsPhase 1, Phase 22766
5Hypolipidemic AgentsPhase 1, Phase 22785
6Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21998
7
Pyridoxineapproved, nutraceutical, vet_approved18865-23-61054
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
8
Pyridoxalapproved, nutraceutical18766-72-81050
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
9Vitamin B 6188
10arginineNutraceutical425
11
OrnithineNutraceutical713184-13-26262, 389
Synonyms:
(+)-S-Ornithine
(+/-)-2,5-Diaminopentanoic acid monohydrochloride
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
(S)-a,D-Diaminovaleric acid
2,5-Diaminopentanoic acid hydrochloride
5-Amino-L-Norvaline
D -2,5-Diaminopentanoic acid
D-Ornithine
DL -2,5-Diaminopentanoic acid
DL-ornithine
DL-ornithine HCL
DL-ornithine monohydrochloride
DL-ornithine, hydrochloride
 
L -2,5-Diaminopentanoic acid
L-(-)-Ornithine
L-Ornithine
L-Ornithine hydrochloride
L-Ornithine hydrochloride (van)
L-Ornithine monohydrochloride
L-Ornithine, monohydrochloride
L-Ornithine-carboxy-14C hydrochloride
MonohydrochlorideDL-Ornithine
Monohydrochloridel-Ornithine
Ornithine DL-form HCL
Ornithine DL-form monohydrochloride
Ornithine hydrochloride
Ornithine hydrochloride (van)
Ornithine monohydrochloride
Ornithine, hydrochloride (1:1)
Ornithine, monohydrochloride
Poly-L-ornithine hydrochloride
12
Pyridoxal Phosphatenutraceutical1554-47-71051
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

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis PigmentosaCompletedNCT00447993Phase 2
2A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis PigmentosaCompletedNCT00447980Phase 2
3REP1 Gene Replacement Therapy for ChoroideremiaRecruitingNCT02407678Phase 2
4Safety and Dose Escalation Study of AAV2-hCHM in Subjects With CHM (Choroideremia) Gene MutationsRecruitingNCT02341807Phase 1, Phase 2
5Choroideremia Gene Therapy Clinical TrialActive, not recruitingNCT02553135Phase 2
6Gene Therapy for Blindness Caused by ChoroideremiaActive, not recruitingNCT01461213Phase 1, Phase 2
7An Open Label Clinical Trial of Retinal Gene Therapy for ChoroideremiaActive, not recruitingNCT02077361Phase 1, Phase 2
8THOR - Tübingen Choroideremia Gene Therapy TrialActive, not recruitingNCT02671539Phase 2
9The Short-term Effects of Simvastatin on the Vision of Males Affected by ChoroideremiaTerminatedNCT01654562Phase 1, Phase 2
10IRIS PILOT - Extended Pilot Study With a Retinal Implant SystemUnknown statusNCT00427180
11Pilot Study of a Suprachoroidal Retinal ProsthesisCompletedNCT01603576
12Gyrate Atrophy of the Choroid and RetinaCompletedNCT00001166
13"Natural History" Study of ChoroideremiaRecruitingNCT02994368
14High Resolution Retinal ImagingRecruitingNCT01866371
15Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
16Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal DystrophyActive, not recruitingNCT02670980
17Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal DystrophyActive, not recruitingNCT01864486

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 Choroideremia27 24 CHM

Anatomical Context for Choroideremia

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MalaCards organs/tissues related to Choroideremia:

36
Eye, Retina, Testes, Pituitary, Endothelial, Monocytes, Brain

Publications for Choroideremia

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Articles related to Choroideremia:

(show top 50)    (show all 251)
idTitleAuthorsYear
1
Single-base substitutions in the CHM promoter as a cause of choroideremia. (28271586)
2017
2
Optical coherence tomography angiography and fundus autofluorescence in the eyes with choroideremia. (28062428)
2017
3
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved RPE Area in a Cohort of Eyes with Choroideremia. (28499705)
2017
4
Choriocapillaris evaluation in choroideremia using optical coherence tomography angiography. (28101400)
2017
5
Choroideremia: melanopsin-mediated postillumination pupil relaxation is abnormally slow. (28271634)
2017
6
Choroideremia. (28520608)
2017
7
Diagnosis for choroideremia in a large Chinese pedigree by nexta89generation sequencing (NGS) and nona89invasive prenatal testing (NIPT). (28098911)
2017
8
Novel non-contiguous exon duplication in choroideremia. (28369842)
2017
9
Correlation of Optical Coherence Tomography and Autofluorescence in the Outer Retina and Choroid of Patients With Choroideremia. (27403996)
2016
10
Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy. (27247961)
2016
11
Optical Coherence Tomography Angiography in Choroideremia: Correlating Choriocapillaris Loss With Overlying Degeneration. (27149258)
2016
12
Visual Acuity after Retinal Gene Therapy for Choroideremia. (27120491)
2016
13
A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype. (27348340)
2016
14
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. (27070432)
2016
15
PHENOTYPING CHOROIDEREMIA AND ITS CARRIER STATE WITH MULTIMODAL IMAGING TECHNIQUES. (27599108)
2016
16
Multimodal Imaging of Photoreceptor Structure in Choroideremia. (27936069)
2016
17
Clinical and Genetic Features of Choroideremia in Childhood. (27506488)
2016
18
Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia. (28112135)
2016
19
Clinical Evaluation and Cone Alterations in Choroideremia. (26992839)
2016
20
Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study. (27986385)
2016
21
Novel CHM mutations identified in Chinese families with Choroideremia. (27739455)
2016
22
Visual Function and Central Retinal Structure in Choroideremia. (27409497)
2016
23
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype. (27820636)
2016
24
Microperimetry as an Outcome Measure in Choroideremia Trials: Reproducibility and Beyond. (27537265)
2016
25
Autofluorescence Lifetimes in Patients With Choroideremia Identify Photoreceptors in Areas With Retinal Pigment Epithelium Atrophy. (27951593)
2016
26
Choroideremia research: Report and perspectives on the second international scientific symposium for choroideremia. (26855058)
2016
27
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model. (27329764)
2016
28
A Qualitative and Quantitative Assessment of Fundus Autofluorescence Patterns in Patients With Choroideremia. (27750291)
2016
29
Pathogenic mechanisms and the prospect of gene therapy for choroideremia. (26251765)
2015
30
Functional Defects in Color Vision in Patients With Choroideremia. (26133251)
2015
31
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities. (26720468)
2015
32
Genetic analysis of choroideremia families in the Australian population. (25912515)
2015
33
Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia. (26327910)
2015
34
Outcomes following cataract surgery in choroideremia. (25592124)
2015
35
Recent advances and future prospects in choroideremia. (26648685)
2015
36
Correction: AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models. (26090960)
2015
37
Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa. (26216097)
2015
38
Multimodal assessment of choroideremia patients defines pre-treatment characteristics. (25744334)
2015
39
Correlation of Retinal Structure and Function in Choroideremia Carriers. (25682176)
2015
40
Choroidal neovascularization secondary to choroideremia. (25433417)
2014
41
Promising first steps in gene therapy for choroideremia. (24502407)
2014
42
Molecular genetic diagnostic techniques in choroideremia. (24791138)
2014
43
Large gene deletion and changes in corneal endothelial cells in a family with choroideremia. (25722215)
2014
44
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene. (24672218)
2014
45
Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. (24913019)
2014
46
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. (24439297)
2014
47
High-resolution adaptive optics retinal imaging of cellular structure in choroideremia. (25190651)
2014
48
Adeno-associated virus 8-mediated gene therapy for choroideremia: preclinical studies in in vitro and in vivo models. (24962736)
2014
49
Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab. (25214760)
2014
50
Gene Therapy for Choroideremia Using an Adeno-Associated Viral (AAV) Vector. (25359548)
2014

Variations for Choroideremia

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UniProtKB/Swiss-Prot genetic disease variations for Choroideremia:

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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 15)
id Gene Variation Type Significance SNP ID Assembly Location
1CHMNM_ 000390.3(CHM): c.1358_ 1359delCCinsGA (p.Ser453Ter)indelPathogenicrs132630263GRCh38Chr X, 85900700: 85900701
2CHMNM_ 000390.3(CHM): c.1484C> A (p.Ser495Ter)SNVPathogenicrs132630264GRCh37Chr X, 85149219: 85149219
3CHMNM_ 000390.3(CHM): c.1471G> T (p.Glu491Ter)SNVPathogenicrs132630265GRCh37Chr 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)SNVPathogenicrs132630267GRCh37Chr X, 85149206: 85149206
7CHMNM_ 000390.3(CHM): c.877C> T (p.Arg293Ter)SNVPathogenicrs132630266GRCh37Chr X, 85212923: 85212923
8CHMCHM, L1 INSinsertionPathogenic
9CHMNM_ 000390.3(CHM): c.808C> T (p.Arg270Ter)SNVPathogenicrs527236048GRCh37Chr X, 85213877: 85213877
10CHMNM_ 000390.3(CHM): c.116+1G> ASNVLikely pathogenicrs786204761GRCh38Chr X, 86027490: 86027490
11CHMNM_ 000390.3(CHM): c.715C> T (p.Arg239Ter)SNVPathogenicrs776256380GRCh37Chr X, 85213970: 85213970
12CHMNM_ 000390.3(CHM): c.649_ 652delTACT (p.Tyr217Hisfs)deletionPathogenicrs886043716GRCh37Chr X, 85218720: 85218723
13CHMNM_ 000390.3(CHM): c.1A> G (p.Met1Val)SNVLikely pathogenicrs1057516265GRCh38Chr X, 86047532: 86047532
14CHMNM_ 000390.3(CHM): c.1520A> G (p.His507Arg)SNVPathogenicrs397514603GRCh37Chr X, 85134059: 85134059
15CHMNM_ 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
1265570X8450000086200000DeletionREP-1Choroideremia

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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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
1melanosome membraneGO:00331629.7RAB27A, RAB7A
2lysosomeGO:00057649.4ARSA, RAB27A, RAB7A
3Rab-protein geranylgeranyltransferase complexGO:00059689.2CHM, CHML, RABGGTA

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

idNameGO IDScoreTop Affiliating Genes
1protein geranylgeranylationGO:00183449.8CHM, CHML, RABGGTA
2post-translational protein modificationGO:00436879.3ARSA, CHM, CHML, RABGGTA
3membrane organizationGO:00610249.2AGFG1, CHM, CHML, RAB27A, RAB7A
4small GTPase mediated signal transductionGO:00072649.0CHM, CHML, RAB27A, RAB7A

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

idNameGO IDScoreTop Affiliating Genes
1GDP-dissociation inhibitor activityGO:000509210.5CHM, CHML
2GDP bindingGO:001900310.3RAB27A, RAB7A
3Rab geranylgeranyltransferase activityGO:000466310.1CHM, RABGGTA
4GTPase activator activityGO:000509610.0AGFG1, CHM, CHML
5Rab GTPase bindingGO:00171379.2CHM, CHML, RABGGTA

Sources for Choroideremia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet