MCID: FRD001
MIFTS: 61

Friedreich Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Aliases & Classifications for Friedreich Ataxia

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 35MedlinePlus, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 29ICD9CM, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Friedreich Ataxia:

Name: Friedreich Ataxia 49 10 21 45 23 47 12 51 65 36 67
Friedreich's Ataxia 10 68 45 22 46 24 35
Frda 68 21 45 22 23 51 67
Friedreich Ataxia with Retained Reflexes 49 11 65
Hereditary Spinal Ataxia 68 45 65
Friedreich Ataxia 1 10 24 65
 
Fa 23 51 67
Hereditary Spinal Sclerosis 68 45
Spinocerebellar Ataxia, Friedreich 45
Friedreich Spinocerebellar Ataxia 23
Friedreich's Tabes 10
Frda1 47


Classifications:



Characteristics (Orphanet epidemiological data):

51
friedreich ataxia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (Italy),1-9/1000000 (Finland); Age of onset: Adolescent,Childhood; Age of death: adult


External Ids:

OMIM49 229300
Disease Ontology10 DOID:12705
ICD9CM29 334.0
MeSH36 D005621
NCIt42 C84718
SNOMED-CT59 155011003, 10394003
Orphanet51 95
ICD10 via Orphanet28 G11.1
MESH via Orphanet37 D005621
UMLS via Orphanet66 C0016719

Summaries for Friedreich Ataxia

About this section
NINDS:46 Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. Ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear as early as 18 months or as late as 30 years of age. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in) may be early signs. Rapid, rhythmic, involuntary movements of the eyeball are common. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart palpitations. Some individuals may develop diabetes.

MalaCards based summary: Friedreich Ataxia, also known as friedreich's ataxia, is related to spinocerebellar ataxia 12 and cerebellar ataxia, and has symptoms including visual impairment, reduced visual acuity and autosomal recessive inheritance. An important gene associated with Friedreich Ataxia is FXN (Frataxin), and among its related pathways are Iron metabolism in placenta and Mitochondrial iron-sulfur cluster biogenesis. Affiliated tissues include heart, spinal cord and eye.

NIH Rare Diseases:45 Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. people with this condition develop impaired muscle coordination (ataxia) that worsens over time. other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. many individuals have a form of heart disease called hypertrophic cardiomyopathy. some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). most people with friedreich ataxia begin to experience the signs and symptoms around puberty. this condition is caused by mutations in the fxn gene and is inherited in an autosomal recessive pattern. last updated: 5/22/2015

MedlinePlus:35 Friedreich's ataxia is an inherited disease that damages your nervous system. the damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. symptoms usually begin between the ages of 5 and 15. the main symptom is ataxia, which means trouble coordinating movements. specific symptoms include difficulty walking muscle weakness speech problems involuntary eye movements scoliosis (curving of the spine to one side) heart palpitations, from the heart disease which can happen along with friedreich's ataxia people with friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. in severe cases, people become incapacitated. there is no cure. you can treat symptoms with medicines, braces, surgery, and physical therapy. nih: national institute of neurological disorders and stroke

Genetics Home Reference:23 Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis).

OMIM:49 Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb... (229300) more...

UniProtKB/Swiss-Prot:67 Friedreich ataxia: Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region.

GeneReviews summary for friedreich

Related Diseases for Friedreich Ataxia

About this section

Diseases in the Friedreich Ataxia family:

Friedreich Ataxia 2

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

(show top 50)    (show all 666)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 1230.7ATXN2, CACNA1A
2cerebellar ataxia30.4APTX, ATXN2, CACNA1A
3ataxias and cerebellar or spinocerebellar degeneration29.8APTX, ATXN2, CACNA1A, FXN, SETX, TTPA
4spinocerebellar ataxia, autosomal recessive 129.7APTX, FXN, SETX, TTPA
5alcohol-induced mental disorder29.7APTX, SETX
6ataxia11.4
7leukemia10.8
8cardiomyopathy10.7
9thyroiditis10.7
10prostatitis10.7
11friedreich ataxia 210.7
12endotheliitis10.7
13melanoma10.7
14breast cancer10.7
15hepatocellular carcinoma10.6
16autoimmune lymphoproliferative syndrome10.6
17adenocarcinoma10.6
18lung cancer10.6
19prostate cancer10.6
20lupus erythematosus10.6
21systemic lupus erythematosus10.6
22arthritis10.6
23esophagitis10.6
24myeloma10.6
25hepatitis c10.5
26spinocerebellar ataxia10.5
27spinocerebellar degeneration10.5
28mitochondrial disorders10.5
29rheumatoid arthritis10.5
30pancreatitis10.5
31fetal alcohol syndrome10.5
32renal cell carcinoma10.5
33cervicitis10.5
34cerebellar disease10.5
35cerebral degeneration10.5
36mitochondrial metabolism disease10.5
37spinal cord disease10.5
38degenerative nerve diseases10.5
39genetic brain disorders10.5
40neurologic diseases10.5
41cerebellar degeneration10.5
42mitochondrial genetic disorders10.5
43spinocerebellar atrophy10.5
44colorectal cancer10.5
45obesity10.5
46gastric cancer10.5
47spinocerebellar ataxia 210.5
48friedreich ataxia congenital glaucoma10.5
49myeloid leukemia10.5
50hepatitis b10.5

Graphical network of the top 20 diseases related to Friedreich Ataxia:



Diseases related to friedreich ataxia

Symptoms for Friedreich Ataxia

About this section

Symptoms by clinical synopsis from OMIM:

229300

Clinical features from OMIM:

229300

HPO human phenotypes related to Friedreich Ataxia:

(show all 27)
id Description Frequency HPO Source Accession
1 visual impairment rare (5%) HP:0000505
2 reduced visual acuity rare (5%) HP:0007663
3 autosomal recessive inheritance HP:0000007
4 nystagmus HP:0000639
5 optic atrophy HP:0000648
6 abnormality of visual evoked potentials HP:0000649
7 sensory neuropathy HP:0000763
8 diabetes mellitus HP:0000819
9 visual field defect HP:0001123
10 dysarthria HP:0001260
11 congestive heart failure HP:0001635
12 hypertrophic cardiomyopathy HP:0001639
13 pes cavus HP:0001761
14 gait ataxia HP:0002066
15 limb ataxia HP:0002070
16 impaired vibratory sensation HP:0002495
17 areflexia of lower limbs HP:0002522
18 scoliosis HP:0002650
19 abnormal ekg HP:0003115
20 abnormal echocardiogram HP:0003116
21 decreased pyruvate carboxylase activity HP:0003209
22 mitochondrial malic enzyme reduced HP:0003232
23 decreased sensory nerve conduction velocity HP:0003448
24 babinski sign HP:0003487
25 juvenile onset HP:0003621
26 decreased amplitude of sensory action potentials HP:0007078
27 impaired proprioception HP:0010831

Drugs & Therapeutics for Friedreich Ataxia

About this section

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

(show all 45)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopamineapprovedPhase 4281462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
2
BupropionapprovedPhase 429834841-39-9444
Synonyms:
( -)-2-(tert-Butylamino)-3'-chloropropiophenone
( -)-2-(tert-Butylamino)-3'-chlorpropiophenon
(+-)-1-(3-chlorophenyl)-2-((1,1-dimethylethyl)amino)-1-propanone
(+-)-Bupropion
.alpha.-(tert-Butylamino)-m-chloropropiophenone
1-(3-chlorophenyl)-2-[(1,1-dimethylethyl)amino]propan-1-one
2-(Tert-Butylamino)-3'-chloropropiophenone
2-(tert-butylamino)-1-(3-chlorophenyl)propan-1-one
34841-36-6 (hydrochloride)
34841-39-9
34911-55-2
AB00053756
AC-197
AC1L198Y
AMFEBUTAMONE HCl
Amfebutamon
Amfebutamona
Amfebutamona [INN-Spanish]
Amfebutamone
Amfebutamonum
Amfebutamonum [INN-Latin]
Aplenzin
BPBio1_000042
BRD-A05186015-003-05-7
BRN 2101062
BSPBio_000038
BSPBio_002247
Budeprion
Buproban
Bupropion
Bupropion (INN)
Bupropion (Old RN)
Bupropion (USAN)
Bupropion Hcl
Bupropion Hydrochloride
Bupropion SR
Bupropion [INN:BAN]
Bupropion hydrocloride
C06860
CHEBI:3219
CHEMBL894
CID444
CPD000472526
D07591
DB01156
 
DivK1c_007050
Elont
HMS2051G10
HMS2089G14
Jsp006301
KBio1_001994
KBio2_002143
KBio2_004711
KBio2_007279
KBio3_001467
KBioGR_001168
KBioSS_002143
L000725
LS-122817
Lopac0_000166
MLS001424015
MolPort-003-845-432
NCGC00015122-06
NCGC00089751-02
NCI60_002714
NSC315851
Prestwick0_000249
Prestwick1_000249
Prestwick2_000249
Prestwick3_000249
SAM001246699
SMR000472526
SPBio_001817
SPBio_002257
SpecPlus_000954
Spectrum2_001659
Spectrum3_000644
Spectrum4_000614
Spectrum5_001406
Spectrum_001663
TL8002604
UNII-01ZG3TPX31
Wellbatrin
Wellbutrin
Wellbutrin SR
Wellbutrin XL
Wellbutrin Xl
Zyban
alpha-(tert-butylamino)-m-chloropropiophenone
amfebutamonum
bupropion
3
CitalopramapprovedPhase 448559729-33-82771
Synonyms:
1,3-Dihydro-1-(3-(dimethylamino)propyl)-1-(4-fluorophenyl)-5-isobenzofurancarbonitrile
1,3-dihydro[3,4]benzofuran-5-carbonitrile
1-(3-(Dimethylamino)propyl)-1-(p-fluorophenyl)-5-phthalancarbonitrile
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-3H-2-benzofuran-5-carbonitrile
59729-33-8
AB00513896
AC-12214
AC1L1EFH
AE-641/00603021
Akarin
BPBio1_000929
BRD-A47598013-004-02-0
BSPBio_000843
Bonitrile
C07572
C20H21FN2O
CHEBI:3723
CHEMBL549
CID2771
CPD000465669
Celapram
Celexa
Celius
Ciazil
Cilift
Cipram
Cipramil
Ciprapine
Citabax
Citadur
Citadur (TN)
Citalec
Citalopram
Citalopram (USP/INN)
Citalopram Hydrobromide
Citalopram [Celexa]
Citalopram [INN:BAN]
Citalopram hydrobromide
Citalopramum
Citalopramum [INN-Latin]
 
Citol
Citopam
Citox
Citrol
Cytalopram
D07704
DB00215
Dalsan
EINECS 261-891-1
Elopram
HMS2090O09
HMS2093A14
Humorup
I01-0382
InChI=1/C20H21FN2O/c1-23(2)11-3-10-20(17-5-7-18(21)8-6-17)19-9-4-15(13-22)12-16(19)14-24-20/h4-9,12H,3,10-11,14H2,1-2H3
L001223
LS-84327
Lopac0_000258
Lu 10-171
Lu-10-171
MolPort-003-666-794
NCGC00015267-07
NCGC00025160-02
Nitalapram
Oropram
Perrigo Citalopram
Pramcit
Prestwick3_000692
Recital
SAM002589960
ST069372
STL058639
Seropram
Talam
Talohexal
Temperax
UNII-0DHU5B8D6V
Vodelax
Zentius
Zetalo
[3H]Citalopram
citalopram
4
SerotoninPhase 4285350-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
5
DeferiproneapprovedPhase 2, Phase 3, Phase 14930652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1
6
IronapprovedPhase 2, Phase 3, Phase 19577439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
7
Pioglitazoneapproved, investigationalPhase 3405111025-46-84829
Synonyms:
(+-)-5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+/-)-5-[[4-[2-(5-Ethyl-2-pyridinyl)-ethoxy]phenyl]methyl]-2,4-thiazolidinedione
(+/-)-5-[p-[2-(ethyl-2-pyridyl)ethoxy]benzyl]-2,4-thiazolidinedione
105355-27-9
111025-46-8
198077-89-3
2,4-Thiazolidinedione, 5-[[4-[2-(5-ethyl-2-pyridinyl)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-(4-(2-(5-ethyl-2-pyridyl)ethoxy)benzyl)-2,4-thiazolidinedione
5-[4-[2-(5-Ethyl-2-pyridyl)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(5-Ethyl-2-pyridinyl)ethoxy]phenyl]methyl]-2,4-thiazolidinedione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]thiazolidine-2,4-dione
5-[[4-[2-[(5-ethyl-2-pyridyl)]ethoxy]phenyl]methyl]thiazolidine- 2,4-dione
5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione
AB1004597
AC-1021
AC1L1J1Q
AD 4833
AD-4833
Actos
Actos (TN)
Actost
BRD-A48430263-003-02-4
BSPBio_002723
C07675
C19H20N2O3S
CHEBI:8228
CHEMBL595
CID4829
D08378
DB01132
Duetact
Glustin
HMS2089H14
HS-0047
 
HSDB 7322
I06-0089
KBio2_002103
KBio2_004671
KBio2_007239
KBio3_001943
KBioGR_001619
KBioSS_002103
LS-151327
MolPort-002-508-211
NCGC00163128-01
NCGC00163128-02
Pioglitazona
Pioglitazona [INN-Spanish]
Pioglitazone
Pioglitazone HCl
Pioglitazone Hydrochloride
Pioglitazone [BAN:INN]
Pioglitazone [Ban:Inn]
Pioglitazone [INN:BAN]
Pioglitazonum
Pioglitazonum [INN-Latin]
SPBio_001897
Spectrum2_001679
Spectrum3_001002
Spectrum4_001130
Spectrum5_001480
Spectrum5_002067
Spectrum_001623
U 72107
U 72107A
U-72107
U72,107A
UNII-X4OV71U42S
Zactos
nchembio790-comp10
pioglitazone (INN)
pioglitazone HCl
8
Riluzoleapproved, investigationalPhase 2, Phase 3581744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole Hydrochloride
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
9
Vareniclineapproved, investigationalPhase 2, Phase 3248249296-44-45310966
Synonyms:
249296-44-4
7,8,9,10-Tetrahydro-6,10-methano-6H-pyrazino(2,3-h)(3)benzazepine
7,8,9,10-tetrahydro-6h-6,10-methanoazepino[4,5-g]quinoxaline
AC1L55H0
AC1Q4W6H
AKOS005145561
AR-1H2911
CHEBI:430452
CHEMBL1396
CID170361
CP 526555
 
CP-526,555
Champix
Chantix
D08669
HSDB 7591
I14-1963
LS-187375
UNII-W6HS99O8ZO
Varenicline
Varenicline (INN)
Varenicline tartrate
varenicline
10Interferon-gammaPhase 3, Phase 2135
11idebenonePhase 3, Phase 2, Phase 117
12Nicotinic AgonistsPhase 2, Phase 3677
13
GuaifenesinapprovedPhase 2, Phase 149693-14-13516
Synonyms:
3-(2-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-propanediol-1,2
3-O-Methoxyphenoxypropane 1:2-diol
7 Select Mucus Relief
Actifed C
Adult Tussin
Adult Tussin chest congestion
Aeronesin
Air Power
Amonidren
Amonidrin
Aresol
Benylin-E
Bidex-400
Bronchol
Broncomar SF
Careone Adult Tussin
Careone Mucus Er
Careone Mucus Relief childrens
Chest Congestion
Chest Congestion Relief
Chest Congestion childrens
Childrens Chest Congestion
Childrens Chest Congestion Relief
Childrens Mucinex Chest Congestion
Childrens Mucinex Mini-Melts Chest Congestion
Childrens Mucus Relief
Childrens Mucus Relief Expectorant Grape
Childrensrelief Expectorant Grape
Cough
Cough Out
Dg Health Mucus Relief Er
Diabetic Siltussin Das-na
Diabetic Tussin Expectorant
Diabetic Tussin Mucus Relief
Equaline Mucus Er
Equaline Tussin chest congestion
Equate Mucus Er
Equate Tussin Adult Chest Congestion
Expectorant
Expectorant 12 Hour
Gadavyt Cough
Geri-tussin Expectorant
Glycerin ether
Glycerin guaiacolate
Glycero-guaiacol ether
Glycerol a-(2-methoxyphenyl) ether
Glycerol a-(O-methoxyphenyl)ether
Glycerol a-guaiacyl ether
Glycerol a-guiacyl ether
Glycerol a-monoguaiacol ether
Glycerol guaiacolate
Glycerol mono(2-methoxyphenyl) ether
Glycerol-a-guajakolether
Glycerol-alpha-guajakolether
Glyceryl guaiacol
Glyceryl guaiacol ether
Glyceryl guaiacolate
Glyceryl guaiacolate ether
Glyceryl guaiacyl ether
Glyceryl guaicolate
Glyceryl guiacolate
Glycerylguaiacol
Good Neighbor Pharmacy Mucus Er
Good Neighbor Pharmacy Mucus Relief
Good Neighbor Pharmacy Tabtussin
Good Neighbor Pharmacy Tussin
Good Sense Mucus Er
Good Sense Mucus Relief
Good Sense Tussin chest congestion
Guaap
Guaiacol glycerol ether
Guaiacol glyceryl ether
Guaiacolglicerinetere
Guaiacuran
Guaiacurane
Guaiacyl glyceryl ether
Guaiamar
Guaianesin
Guaicol glycerine ether
Guaicol glyceryl ether
Guaifenesin
Guaifenesin Extended Release
Guaifenesine
Guaiphenesin
Guaiphenesine
Guaiphesin
Guiatuss
Health Mart Adult Tussin
Health Mart Mucus Er
Healthmart Chest Congestion Relief
Healthy Accents Childrens Mucus Relief
Healthy Accents Mucus Relief
Healthy Accents Tussin
Healthy Accents Tussin Chest Congestion adult
Hustosil
 
Iophen Nr
Kids-eeze Chest Relief
Leader Adult Tussin Chest Congestion
Leader Adult Tussin Mucus Plus Chest Congestion
Leader Chest Congestion Relief G450
Leader Cough Tabs
Leader Mucus Er
Leader Mucus Relief childrens
Leader Tabtussin 400
Licorice Coughing Liquid
Liqufruta
Liquituss Gg
Little Remedies Little Colds Mucus Relief Expectorant Melt Aways
Methoxypropanediol
Methphenoxydiol
Metossipropandiolo
Mucaplex
Mucinex
Mucinex For Kids
Mucinex Maximum Strength
Mucinex for Kids
Mucosa
Mucus Er
Mucus Extended Release
Mucus Releif Expectorant
Mucus Relief
Mucus Relief Chest
Mucus Relief Er
Mucus Relief Expectorant
Mucus Relief Immediate Release
O-Methoxyphenyl glyceryl ether
Organ-i Nr
Organidin NR
Pancold S
Pneumomist
Preferred Plus Chest Congestion Relief
Preferred Plus Mucus Er
Preferred Plus Tabtussin
Premier Value Chest Congestion Relief
Propanosedyl
Q-tussin
Qtussin
Quality Choice Mucus Relief
Reduton
Refenesen
Refenesen Chest Congestion Relief
Respaire-30
Ritussin Expectorant
Robafen Cough Formula
Robitussin
Robitussin Mucus Plus Chest Congestion
Rompe Pecho
Rompe Pecho EX
Rompe Pecho SF
Rugby Mucus Er
Rx Act Tussin Chest Congestion
Scot-tussin Expectorant Sf Cough
Select Brand Coughtab 400
Select Brand Mucus Relief
Select Brand Tab Tussin
Selecthealth Tussin Dm
Shopko Chest Congestion Relief
Shoprite Adult Tussin
Shoprite Mucus Relief
Siltussin Das
Siltussin Sa
Simpex Guaifenesin
Simply Right Mucus Relief
Smart Sense Childrens Mucus Relief
Smart Sense Mucus Er
Smart Sense Tussin adult
Sunmark Mucus Er
Sunmark Tussin
Sunmark Tussin chest congestion
The Medicine Shoppe Chest Congestion Relief
Topcare Mucus Er
Topcare Mucus Relief
Topcare Tussin Chest Congestion
Topcare Tussin mucus plus chest congestion
Tussin
Tussin Adult chest congestion
Tussin Chest
Tussin Chest Congestion Adult Non Drowsy
Tussin Chest Congestion Non Drowsy
Tussin EXPECTORANT
Tussin Non Drowsy
Tussin Original
Tussin adult chest congestion
Tussin adults non drowsy
Tussin expectorant for adults
Tussin mucus plus chest congestion
Ultra Tuss
Wal Tussin adult chest congestion
a-Glyceryl guaiacol ether
a-Glyceryl guaiacolate ether
alpha-Glyceryl guaiacol ether
alpha-Glyceryl guaiacolate ether
guaiphenesin
p-Cresyl acetate
14
Epoetin alfaapprovedPhase 2612113427-24-0
Synonyms:
Epogen
 
Erythropoietin precursor
Procrit
15
Cysteamineapproved, investigationalPhase 22260-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
16
Vitamin Eapproved, nutraceuticalPhase 235059-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
17
Folic Acidapproved, nutraceuticalPhase 2285159-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
18
Niacinapproved, investigational, nutraceuticalPhase 234059-67-6938
Synonyms:
3-Carboxylpyridine
3-Carboxypyridine
3-Pyridinecarboxylate
3-Pyridinecarboxylic acid
3-Pyridylcarboxylate
3-Pyridylcarboxylic acid
3-carboxypyridine
Acide Nicotinique
Acido nicotinico
Acidum Nicotinicum
Akotin
Anti-pellagra vitamin
Apelagrin
Daskil
Efacin
Enduracin
Linic
M-Pyridinecarboxylic Acid
Niac
Niacin
Niacine
Niacor
Niaspan
Niaspan ER
Nicacid
Nicamin
 
Nicangin
Nico-Span
Nicobid
Nicocap
Nicodelmine
Nicolar
Niconacid
Nicosan 3
Nicotinate
Nicotinic Acid
Nicotinic acid
Nicotinipca
Nicyl
Nikotinsaeure
Nyclin
P.P. factor
PP Factor
Pellagra preventive factor
Pellagrin
Pelonin
Pyridine-beta-carboxylic acid
Slo-niacin
Vitamin B3
Wampocap
beta-Pyridinecarboxylic acid
pyridine-β-carboxylic acid
β-pyridinecarboxylic acid
19
Resveratrolexperimental, investigationalPhase 1, Phase 2101501-36-0, 955365-80-724856436, 445154
Synonyms:
(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol
(E)-5-(p-Hydroxystyryl)resorcinol
(E)-5-[2-(4-Hydroxyphenyl)ethenyl]-1,3-benzenediol
(E)-5-[2-(4-hydroxyphenyl)ethenyl]-1,3-benzendiol
(E)-resveratrol
 
3,4',5-Stilbenetriol
3,4',5-Trihydroxystilbene
3,4',5-trihydroxy-stilbene
MK-1775
trans-3,4',5 - Trihydroxystilbene
trans-3,4',5-trihydroxystilbene
trans-Resveratrol
20TocopherylquinonePhase 22
21TocotrienolsPhase 2352
22Chlorpheniramine, phenylpropanolamine drug combinationPhase 2, Phase 1496
23UbiquinonePhase 290
24TocopherolsPhase 2355
25Vitamin B ComplexPhase 22775
26Tocotrienol, alphaPhase 25
27Nicotinic AcidsPhase 2340
28
Coenzyme Q10NutraceuticalPhase 2101303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10
29TocotrienolNutraceuticalPhase 2352
30TocopherolNutraceuticalPhase 2355
31FolateNutraceuticalPhase 22851
32LinoleateNutraceuticalPhase 1, Phase 261
33Vitamin B9NutraceuticalPhase 22851
34Vitamin B3NutraceuticalPhase 2340
35
Nicotinamideexperimental, NutraceuticalPhase 233298-92-0936
Synonyms:
.beta.-Pyridinecarboxamide
11032-50-1
123574-63-0
1yc5
3 Pyridinecarboxamide
3-Carbamoylpyridine
3-Pyridinecarboxamide
3-Pyridinecarboxylic acid amide
37321-14-5
47865U_SUPELCO
55600-01-6
63748-44-7
72340_FLUKA
72340_SIGMA
72347_FLUKA
78731-47-2
98-92-0
A186B02E-6C70-4E54-9739-79398D439AAA
AC-907/25014114
AC1L1ACZ
AC1Q4ZFV
AI3-02906
Acid amide
Amid kyseliny nikotinove
Amid kyseliny nikotinove [Czech]
Amide PP
Aminicotin
Amixicotyn
Amnicotin
Astra Brand of Niacinamide
Austrovit PP
B 3, Vitamin
B3, Vitamin
BB_NC-2290
Benicot
C00153
C6H6N2O
CCRIS 1901
CHEBI:17154
CHEMBL1140
CID936
CPD000058212
D00036
D009536
DB02701
DEA No. 1405
Delonin Amide
Delonin amide
Dipegyl
Dipigyl
EINECS 202-713-4
EINECS 234-265-0
Endobion
Enduramide
Factor pp
HMS2052M21
HMS2090B05
HMS2093H03
HSDB 1237
Hansamid
I02-1741
I02-2250
InChI=1/C6H6N2O/c7-6(9)5-2-1-3-8-4-5/h1-4H,(H2,7,9
Inovitan PP
Jenapharm Brand of Niacinamide
Jenapharm, Nicotinsaureamid
LS-2051
MLS000069714
Mediatric
Merck Brand of Niacinamide
MolMap_000061
MolPort-001-783-876
N0078
N0636_SIGMA
N2142_SIGMA
N3376_SIGMA
N5535_SIAL
NAM
NCGC00093354-03
NCGC00093354-04
NSC 13128
NSC13128
NSC27452
Nandervit-N
Niacevit
Niacinamide
Niacinamide (USP)
Niacinamide Astra Brand
Niacinamide Jenapharm Brand
Niacinamide Merck Brand
 
Niacinamide Pharmagenix Brand
Niacinamide [USAN]
Niacinamide, Nicotinic acid amide, Nicotinamide
Niacotinamide
Niamide
Niavit PP
Nicamide
Nicamina
Nicamindon
Nicasir
Nicobion
Nicofort
Nicogen
Nicomidol
Nicosan 2
Nicosylamide
Nicota
Nicotamide
Nicotilamide
Nicotililamido
Nicotinamid
Nicotinamida
Nicotinamida [INN-Spanish]
Nicotinamide
Nicotinamide (JP15/INN)
Nicotinamide (Niacinamide)
Nicotinamide, niacin, vitamin B3
Nicotinamide-carbonyl-14C
Nicotinamidum
Nicotinamidum [INN-Latin]
Nicotine acid amide
Nicotine amide
Nicotinic acid amide
Nicotinic amide
Nicotinsaeureamid
Nicotinsaureamid
Nicotinsaureamid Jenapharm
Nicotinsaureamid [German]
Nicotol
Nicotylamide
Nicotylamidum
Nicovel
Nicovit
Nicovitina
Nicovitol
Nicozymin
Nictoamide
Nikasan
Nikazan
Niko-tamin
Nikotinamid
Nikotinsaeureamid
Nikotinsaeureamid [German]
Niocinamide
Niozymin
PP-Faktor
Papulex
Pelmin
Pelmine
Pelonin amide
Pharmagenix Brand of Niacinamide
Propamine A
Pyridine-3-carboxylic acid amide
S1899_Selleck
SAM001246860
SGCUT00176
SMR000058212
Savacotyl
UNII-25X51I8RD4
Vi-Nicotyl
Vi-noctyl
Vitamin B
Vitamin B (VAN)
Vitamin B 3
Vitamin B3
Vitamin H1
Vitamin PP
WLN: T6NJ CVZ
Witamina PP
ZINC00005878
b-Pyridinecarboxamide
beta-Pyridinecarboxamide
bmse000281
m-(Aminocarbonyl)pyridine
nchembio.154-comp4
nchembio.73-comp6
niacin - Vitamin B3
niacinamide
nicotinamide
pyridine-3-carboxamide
to_000073
vitamin PP
36
Indoleexperimental, NutraceuticalPhase 19120-72-9798
Synonyms:
1-Azaindene
1-Benzazole
 
2,3-Benzopyrrole
Benzo[b]pyrrole
Indole
Ketole
37
Acetylcarnitineapproved, investigational383040-38-81
Synonyms:
(+-)-Acetylcarnitine
(-)-Acetylcarnitine
(R)-Acetylcarnitine
ALCAR
Acetyl-L-(-)-carnitine
Acetyl-L-carnitine
Acetyl-carnitine
Acetylcarnitine
 
L-Acetylcarnitine
L-Carnitine acetyl ester
L-O-Acetylcarnitine
Levocarnitine acetyl
Nicetile
O-Acetyl-L-carnitine
O-Acetylcarnitine
O-acetyl-L-carnitine
acetyl-L-carnitine
38
PrednisoloneapprovedPhase 0103350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
Flo-pred
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
MLS001304083
 
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
39
MethylprednisoloneapprovedPhase 0103383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
A-methapred
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Depo-medrol
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
40Prednisolone phosphatePhase 01033
41Methylprednisolone HemisuccinatePhase 01033
42Prednisolone hemisuccinatePhase 01033
43Prednisolone acetatePhase 01033
44Methylprednisolone acetatePhase 01033
45carnitineNutraceutical138

Interventional clinical trials:

(show all 45)
idNameStatusNCT IDPhase
1An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich AtaxiaCompletedNCT01716221Phase 4
2Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia PatientsCompletedNCT00697073Phase 3
3Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of ConceptCompletedNCT00811681Phase 3
4Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's AtaxiaCompletedNCT00537680Phase 3
5Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)CompletedNCT01303406Phase 3
6A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) PatientsCompletedNCT00905268Phase 3
7Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension)CompletedNCT00993967Phase 3
8Efficacy of Riluzole in Hereditary Cerebellar AtaxiaCompletedNCT01104649Phase 2, Phase 3
9Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's DiseaseCompletedNCT00943748Phase 2, Phase 3
10Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's AtaxiaRecruitingNCT02415127Phase 3
11Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia StudyNot yet recruitingNCT02593773Phase 3
12Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's AtaxiaTerminatedNCT00803868Phase 2, Phase 3
13Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's AtaxiaCompletedNCT01016366Phase 2
14Interferon Gamma-1b in Friedreich Ataxia (FRDA)CompletedNCT01965327Phase 2
15A Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's AtaxiaCompletedNCT00530127Phase 1, Phase 2
16Idebenone to Treat Friedreich's AtaxiaCompletedNCT00229632Phase 2
17A Study of Resveratrol as Treatment for Friedreich AtaxiaCompletedNCT01339884Phase 1, Phase 2
18A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's AtaxiaCompletedNCT00897221Phase 2
19Efficacy Study of Epoetin Alfa in Friedreich AtaxiaCompletedNCT01493973Phase 2
20Efficacy of Epoetin Alfa in Patients With Friedreich's AtaxiaCompletedNCT00631202Phase 2
21Iron-Chelating Therapy and Friedreich AtaxiaCompletedNCT00224640Phase 1, Phase 2
22Efficacy of EGb761 in Patients Suffering From Friedreich AtaxiaCompletedNCT00824512Phase 2
23Safety and Efficacy Study of A0001 in Subjects With Friedreich's AtaxiaCompletedNCT01035671Phase 2
24RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIeRecruitingNCT02255435Phase 2
25A First in Human Study of RT001 in Patients With Friedreich's AtaxiaRecruitingNCT02445794Phase 1, Phase 2
26A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA PatientsRecruitingNCT02035020Phase 2
27A Pilot Clinical Trial With the Iron Chelator Deferiprone in Parkinson's DiseaseRecruitingNCT01539837Phase 2
28EPI-743 in Friedreich's Ataxia Point MutationsActive, not recruitingNCT01962363Phase 2
29Safety and Efficacy of EPI-743 in Patients With Friedreich's AtaxiaActive, not recruitingNCT01728064Phase 2
30Effect of Nicotinamide in Friedreich's AtaxiaActive, not recruitingNCT01589809Phase 2
31EPI-743 for Mitochondrial Respiratory Chain DiseasesActive, not recruitingNCT01370447Phase 2
32A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
33(+) Epicatechin to Treat Friedreich's AtaxiaNot yet recruitingNCT02660112Phase 2
34Phase 1 Trial of Idebenone to Treat Patients With Friedreich's AtaxiaCompletedNCT00078481Phase 1
35Safety Study of Idebenone to Treat Friedreich's AtaxiaCompletedNCT00015808Phase 1
36Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's AtaxiaCompletedNCT01898884Phase 1
37Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic CounselingCompletedNCT00056186
38Methylprednisolone Treatment of Friedreich AtaxiaRecruitingNCT02424435Phase 0
39Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)RecruitingNCT02069509
40An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's AtaxiaRecruitingNCT01921868
41Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)RecruitingNCT02316314
42Biomarkers in Friedreich's AtaxiaRecruitingNCT02497534
43Extramembranous and Interosseous Technique of Tibialis Posterior Tendon TransferRecruitingNCT01751503
44Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND)Active, not recruitingNCT02179333
45Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's AtaxiaEnrolling by invitationNCT01776164

Search NIH Clinical Center for Friedreich Ataxia


Cochrane evidence based reviews: Friedreich Ataxia

Genetic Tests for Friedreich Ataxia

About this section

Genetic tests related to Friedreich Ataxia:

id Genetic test Affiliating Genes
1 Friedreich Ataxia22 FXN
2 Friedreich Ataxia 124
3 Friedreich's Ataxia24

Anatomical Context for Friedreich Ataxia

About this section

MalaCards organs/tissues related to Friedreich Ataxia:

33
Heart, Spinal cord, Eye, Testes, Brain, Skeletal muscle, Liver

Animal Models for Friedreich Ataxia or affiliated genes

About this section

Publications for Friedreich Ataxia

About this section

Articles related to Friedreich Ataxia:

(show top 50)    (show all 419)
idTitleAuthorsYear
1
FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. (26393353)
2015
2
MRI Texture Analysis Reveals Bulbar Abnormalities in Friedreich Ataxia. (26359147)
2015
3
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells. (25549872)
2015
4
Identification of telomere dysfunction in Friedreich ataxia. (26059974)
2015
5
Atypical Presentation for Friedreich Ataxia in a Child. (26301374)
2015
6
Friedreich ataxia in Norway - an epidemiological, molecular and clinical study. (26338206)
2015
7
Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia. (25198290)
2014
8
A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia. (25298866)
2014
9
Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia. (25267338)
2014
10
R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. (24787137)
2014
11
Cerebello-cerebral connectivity deficits in Friedreich ataxia. (23563750)
2013
12
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia. (23640016)
2013
13
Increased prevalence of sleep-disordered breathing in Friedreich ataxia. (23700333)
2013
14
Cognition in late-onset Friedreich ataxia. (23397368)
2013
15
Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length. (23925595)
2013
16
Exonic deletions of FXN and early-onset Friedreich ataxia. (22409940)
2012
17
Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia. (23052598)
2012
18
Decreased functional brain activation in Friedreich ataxia using the Simon effect task. (22542844)
2012
19
Role of mismatch repair enzymes in GAAA^TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells. (22798143)
2012
20
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function. (21147271)
2011
21
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. (21412413)
2011
22
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. (21771600)
2011
23
Effects of erythropoietin on frataxin levels and mitochondrial function in Friedreich ataxia--a dose-response trial. (21597884)
2011
24
Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change. (21570254)
2011
25
Evaluation of neuropsychological functions in patients with Friedreich ataxia before and after cognitive therapy. (20923605)
2010
26
Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications. (20478553)
2010
27
Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling. (20338762)
2010
28
Pharmacotherapy for Friedreich ataxia. (19320530)
2009
29
Friedreich ataxia. (18852343)
2008
30
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. (18463734)
2008
31
Predictors of progression in patients with Friedreich ataxia. (18759347)
2008
32
Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry. (18226551)
2008
33
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. (17562928)
2007
34
Frataxin gene point mutations in Italian Friedreich ataxia patients. (17703324)
2007
35
Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy. (17203663)
2007
36
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. (17498922)
2007
37
The evaluation of left ventricular systolic and diastolic functions in patients with Friedreich ataxia. A pulse tissue Doppler study. (16043940)
2005
38
GAA repeat instability in Friedreich ataxia YAC transgenic mice. (15233994)
2004
39
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia. (12516053)
2003
40
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy. (11857753)
2002
41
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. (11823441)
2002
42
Atypical Friedreich ataxia with a very late onset and an unusual limited GAA repeat. (10987912)
2000
43
Clinical and genetic study of Friedreich ataxia in an Australian population. (10533031)
1999
44
Long Range Polymerase Chain Reaction-Based Diagnosis of Friedreich Ataxia in the Clinical Molecular Diagnostics Laboratory. (10096952)
1998
45
Locus heterogeneity in Friedreich ataxia. (10735274)
1997
46
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. (9153531)
1997
47
Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases. (8677022)
1996
48
A case of successful pregnancy in a woman with Friedreich ataxia. (1517070)
1992
49
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. (6454083)
1981
50
Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia. (569787)
1978

Variations for Friedreich Ataxia

About this section

UniProtKB/Swiss-Prot genetic disease variations for Friedreich Ataxia:

67
id Symbol AA change Variation ID SNP ID
1FXNp.Asp122TyrVAR_002428
2FXNp.Gly130ValVAR_002429
3FXNp.Ile154PheVAR_002430
4FXNp.Trp155ArgVAR_002431
5FXNp.Arg165CysVAR_008139
6FXNp.Leu182PheVAR_008140
7FXNp.Leu106SerVAR_016065
8FXNp.Leu198ArgVAR_016066

Clinvar genetic disease variations for Friedreich Ataxia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FXNFXN, 6-BP DEL/15-BP INS, NT371indelPathogenic
2FXNNM_000144.4(FXN): c.165+1340_165+1357GAA[6]NT expansionPathogenicGRCh37Chr 9, 71652203: 71652205
3FXNNM_000144.4(FXN): c.317T> G (p.Leu106Ter)single nucleotide variantPathogenicrs104894105GRCh37Chr 9, 71668109: 71668109
4FXNNM_000144.4(FXN): c.385-2A> Gsingle nucleotide variantPathogenicrs140987490GRCh37Chr 9, 71679852: 71679852
5FXNNM_000144.4(FXN): c.460A> T (p.Ile154Phe)single nucleotide variantPathogenicrs104894106GRCh37Chr 9, 71679929: 71679929
6FXNNM_000144.4(FXN): c.389G> T (p.Gly130Val)single nucleotide variantPathogenicrs104894107GRCh37Chr 9, 71679858: 71679858
7FXNNM_000144.4(FXN): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs104894108GRCh37Chr 9, 71650701: 71650701
8FXNFXN, 1-BP DEL, 157CdeletionPathogenic

Expression for genes affiliated with Friedreich Ataxia

About this section
Search GEO for disease gene expression data for Friedreich Ataxia.

Pathways for genes affiliated with Friedreich Ataxia

About this section

Pathways related to Friedreich Ataxia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ACO1, TFRC
29.1FXN, ISCU, LYRM4

GO Terms for genes affiliated with Friedreich Ataxia

About this section

Cellular components related to Friedreich Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1polysomeGO:00058449.8ATXN2, FMR1
2cytoplasmic stress granuleGO:00104949.8ATXN2, FMR1
3mitochondrionGO:00057398.0ACO1, FTMT, FXN, ISCU, LYRM4, TFRC

Biological processes related to Friedreich Ataxia according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of lyase activityGO:005134910.5FTMT, FXN
2positive regulation of succinate dehydrogenase activityGO:190423110.5FTMT, FXN
3positive regulation of aconitate hydratase activityGO:190423410.5FTMT, FXN
4negative regulation of multicellular organism growthGO:004001510.2ATXN2, FXN
5cerebellar Purkinje cell differentiationGO:002170210.1ATXN2, CACNA1A
6neuromuscular processGO:005090510.1ATXN2, CACNA1A
7intestinal absorptionGO:005089210.1ACO1, TJP2
8iron-sulfur cluster assemblyGO:001622610.1FXN, ISCU
9adult walking behaviorGO:000762810.0CACNA1A, FXN
10response to iron ionGO:00100399.8FXN, TFRC
11cellular response to hydrogen peroxideGO:00703019.6FXN, SETX
12cellular iron ion homeostasisGO:00068798.3ACO1, FTMT, FXN, ISCU, TFRC

Molecular functions related to Friedreich Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ferric iron bindingGO:000819910.2FTMT, FXN
2ferroxidase activityGO:00043229.9FTMT, FXN
3ferrous iron bindingGO:00081989.8FXN, ISCU
4iron-sulfur cluster bindingGO:00515369.7FXN, ISCU
52 iron, 2 sulfur cluster bindingGO:00515379.6FXN, ISCU
64 iron, 4 sulfur cluster bindingGO:00515399.5ACO1, ISCU

Sources for Friedreich Ataxia

About this section
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