MCID: FRD001
MIFTS: 62

Friedreich Ataxia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Friedreich Ataxia

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Friedreich Ataxia:

Name: Friedreich Ataxia 51 11 23 47 24 25 53 69 49 38 13 67
Friedreich's Ataxia 11 70 47 48 26 37
Frda 23 47 24 25 53 69
Hereditary Spinal Ataxia 70 47 67
Friedreich Ataxia 1 11 26 67
Fa 25 53 69
Friedreich Ataxia with Retained Reflexes 51 12
 
Spinocerebellar Ataxia, Friedreich 47
Friedreich Spinocerebellar Ataxia 25
Hereditary Spinal Sclerosis 47
Friedreich's Tabes 11
Friedrich's Ataxia 25
Frda1 49

Characteristics:

Orphanet epidemiological data:

53
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

HPO:

63
friedreich ataxia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

GeneReviews:

23
Penetrance: penetrance is complete in homozygotes with both alleles having full-penetrance gaa repeat expansions and in compound heterozygotes for a full-penetrance gaa expansion in one allele and a fxn pathogenic variant in the other allele. however, because of wide variability in the size of pathogenic expanded alleles, and for other unknown reasons, onset can range from before age five years to older than age 50 years. this variability in age-dependent penetrance can occasionally occur within the same sibship...


Classifications:



External Ids:

OMIM51 229300
Disease Ontology11 DOID:12705
ICD9CM31 334.0
MeSH38 D005621
NCIt44 C84718
SNOMED-CT61 10394003, 155011003
Orphanet53 ORPHA95
MESH via Orphanet39 D005621
UMLS via Orphanet68 C0016719
ICD10 via Orphanet30 G11.1

Summaries for Friedreich Ataxia

About this section
NINDS:48 Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system and movement problems. Neurological symptoms include awkward, unsteady movements, impaired sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected.Impaired muscle coordination (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 in adulthood or later. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. People lave loss of sensation in the arms and legs, which may spread to other parts of the body. Many 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 problems. Some individuals may develop diabetes.

MalaCards based summary: Friedreich Ataxia, also known as friedreich's ataxia, is related to friedreich ataxia 2 and fas-related autoimmune lymphoproliferative syndrome, and has symptoms including visual impairment, reduced visual acuity and nystagmus. 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.

Genetics Home Reference:25 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, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).

NIH Rare Diseases:47 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

OMIM:51 Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb... (229300) more...

MedlinePlus:37 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

UniProtKB/Swiss-Prot:69 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 for NBK1281

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 88)
idRelated DiseaseScoreTop Affiliating Genes
1friedreich ataxia 212.3
2fas-related autoimmune lymphoproliferative syndrome11.8
3fanconi anemia, complementation group a11.8
4autoimmune lymphoproliferative syndrome11.6
5fetal alcohol syndrome11.1
6harding ataxia11.1
7ataxia11.1
8fetal alcohol spectrum disorder11.0
9ataxia with vitamin e deficiency10.9
10auditory neuropathy, autosomal dominant, 110.9
11fanconi anemia, complementation group l10.8
12fanconi anemia, complementation group d210.8
13fanconi anemia, complementation group g10.8
14fanconi anemia, complementation group f10.8
15fanconi anemia, complementation group d110.8
16fanconi anemia, complementation group i10.8
17fanconi anemia, complementation group n10.8
18fanconi anemia, complementation group j10.8
19fanconi anemia, complementation group o10.8
20fanconi anemia, complementation group b10.8
21fundus albipunctatus10.8
22dianzani autoimmune lymphoproliferative disease10.8
23fanconi anemia, complementation group e10.7
24fanconi anemia, complementation group c10.7
25fanconi anemia, complementation group p10.7
26fanconi anemia, complementation group q10.7
27autoimmune lymphoproliferative syndrome, type iib10.7
28cardiomyopathy10.3
29lymphoma10.3
30leukemia10.3
31colorectal adenoma10.3
32tuberculoid leprosy10.1ACO1, TFRC
33neuropathy10.1
34lennox-gastaut syndrome10.1ACO1, FXN, TTPA
35atransferrinemia10.1FXN, TFRC
36x-linked hereditary ataxia10.1FXN, SETX
37neuronitis10.0
38synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses10.0ACO1, ISCU
39hereditary spastic paraplegia10.0CACNA1A, FXN, TTPA
40slate pneumoconiosis10.0ISCU, TFRC
41nasu-hakola disease10.0ACO1, FXN, TFRC
42lissencephaly 6, with microcephaly9.9CACNA1A, SETX
43hemochromatosis9.9
44fragile x syndrome9.9
45cerebritis9.9
46tremor9.9
47aarskog-scott syndrome9.8ACO1, TFRC
48tay-sachs disease9.7
49charcot-marie-tooth disease9.7
50congestive heart failure9.7

Comorbidity relations with Friedreich Ataxia via Phenotypic Disease Network (PDN):


Acute Cystitis

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

Human phenotypes related to Friedreich Ataxia:

 63 (show all 25)
id Description HPO Frequency HPO Source Accession
1 visual impairment63 rare (5%) HP:0000505
2 reduced visual acuity63 rare (5%) HP:0007663
3 nystagmus63 HP:0000639
4 optic atrophy63 HP:0000648
5 abnormality of visual evoked potentials63 HP:0000649
6 sensory neuropathy63 HP:0000763
7 diabetes mellitus63 HP:0000819
8 visual field defect63 HP:0001123
9 dysarthria63 HP:0001260
10 congestive heart failure63 HP:0001635
11 hypertrophic cardiomyopathy63 HP:0001639
12 pes cavus63 HP:0001761
13 gait ataxia63 HP:0002066
14 limb ataxia63 HP:0002070
15 impaired vibratory sensation63 HP:0002495
16 areflexia of lower limbs63 HP:0002522
17 scoliosis63 HP:0002650
18 abnormal ekg63 HP:0003115
19 abnormal echocardiogram63 HP:0003116
20 decreased pyruvate carboxylase activity63 HP:0003209
21 mitochondrial malic enzyme reduced63 HP:0003232
22 decreased sensory nerve conduction velocity63 HP:0003448
23 babinski sign63 HP:0003487
24 decreased amplitude of sensory action potentials63 HP:0007078
25 impaired proprioception63 HP:0010831

UMLS symptoms related to Friedreich Ataxia:


gait deviation, cerebellar ataxia/dyskinesia, trendelenburg's symptom, sleeplessness, equilibration disorder, loss of control of walking, abnormal coordination, vertigo/dizziness, difficulty standing, chronic pain, tremor, syncope, seizures, sciatica, pain, myoclonus, headache, cerebellar ataxia, back pain, ataxia

Drugs & Therapeutics for Friedreich Ataxia

About this section

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

(show top 50)    (show all 108)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BupropionapprovedPhase 431934841-39-9, 34911-55-2444
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]
BPBio1_000042
BRD-A05186015-003-05-7
BRN 2101062
BSPBio_000038
BSPBio_002247
Bupropion (INN)
Bupropion (Old RN)
Bupropion (USAN)
Bupropion Hcl
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
Zyban
alpha-(tert-butylamino)-m-chloropropiophenone
amfebutamonum
bupropion
2
CitalopramapprovedPhase 450359729-33-82771
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 (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
Pramcit
Prestwick3_000692
Recital
SAM002589960
ST069372
STL058639
Seropram
Talam
Talohexal
Temperax
UNII-0DHU5B8D6V
Vodelax
Zentius
Zetalo
[3H]Citalopram
citalopram
3
DopamineapprovedPhase 4375951-61-6, 62-31-7681
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 [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
4Peripheral Nervous System AgentsPhase 4, Phase 1, Phase 2, Early Phase 122776
5Neurotransmitter AgentsPhase 4, Phase 2, Phase 317734
6ParasympatholyticsPhase 41050
7
SerotoninPhase 4356650-67-95202
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
8Antidepressive AgentsPhase 42666
9Serotonin Uptake InhibitorsPhase 41570
10Serotonin AgentsPhase 43102
11Muscarinic AntagonistsPhase 41134
12Psychotropic DrugsPhase 46279
13Neurotransmitter Uptake InhibitorsPhase 43464
14Cholinergic AgentsPhase 4, Phase 2, Phase 33846
15Autonomic AgentsPhase 4, Early Phase 19774
16Dopamine Uptake InhibitorsPhase 41305
17Antidepressive Agents, Second-GenerationPhase 41287
18Cholinergic AntagonistsPhase 41658
19Antiparkinson AgentsPhase 41527
20Cytochrome P-450 CYP2D6 InhibitorsPhase 4716
21Dopamine AgentsPhase 43759
22Cytochrome P-450 Enzyme InhibitorsPhase 43822
23
IronapprovedPhase 2, Phase 3, Phase 111237439-89-623925
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
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
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
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
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
24
DeferiproneapprovedPhase 2, Phase 3, Phase 15730652-11-02972
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
25
Riluzoleapproved, investigationalPhase 2, Phase 3631744-22-55070
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 [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
26Idebenoneapproved, investigationalPhase 3, Phase 2, Phase 12158186-27-9
27
Pioglitazoneapproved, investigationalPhase 3435111025-46-84829
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
28
Vareniclineapproved, investigationalPhase 2, Phase 3269249296-44-45310966
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
29interferonsPhase 3, Phase 22137
30Iron Chelating AgentsPhase 2, Phase 3, Phase 1222
31Chelating AgentsPhase 2, Phase 3, Phase 11365
32Antiviral AgentsPhase 3, Phase 29732
33Trace ElementsPhase 3, Phase 2, Phase 15802
34Anti-Infective AgentsPhase 3, Phase 221402
35MicronutrientsPhase 3, Phase 2, Phase 15802
36Interferon-gammaPhase 3, Phase 2145
37Protective AgentsPhase 3, Phase 2, Phase 1, Early Phase 17190
38Pharmaceutical SolutionsPhase 2, Phase 3, Phase 17793
39Hypoglycemic AgentsPhase 35733
40Excitatory Amino Acid AntagonistsPhase 2, Phase 31282
41UbiquinonePhase 3, Phase 2, Phase 1139
42Neuroprotective AgentsPhase 2, Phase 3, Early Phase 11672
43Excitatory Amino AcidsPhase 2, Phase 31297
44AntioxidantsPhase 3, Phase 2, Phase 12928
45AnticonvulsantsPhase 2, Phase 32620
46Nicotinic AgonistsPhase 2, Phase 3902
47
Guaifenesinapproved, vet_approvedPhase 1, Phase 261693-14-13516
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
Actifed C
Aeronesin
Amonidren
Amonidrin
Aresol
Benylin-E
Bronchol
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
Guaiacol glycerol ether
Guaiacol glyceryl ether
Guaiacolglicerinetere
Guaiacuran
Guaiacurane
Guaiacyl glyceryl ether
Guaiamar
Guaianesin
Guaicol glycerine ether
Guaicol glyceryl ether
Guaifenesin
Guaifenesine
Guaiphenesin
Guaiphenesine
Guaiphesin
Hustosil
Methoxypropanediol
Methphenoxydiol
Metossipropandiolo
O-Methoxyphenyl glyceryl ether
Organidin NR
Pneumomist
Propanosedyl
Reduton
Robitussin
a-Glyceryl guaiacol ether
a-Glyceryl guaiacolate ether
alpha-Glyceryl guaiacol ether
alpha-Glyceryl guaiacolate ether
guaiphenesin
p-Cresyl acetate
48
Cysteamineapproved, investigationalPhase 22760-23-16058
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]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
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
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
49
Vitamin Eapproved, nutraceutical, vet_approvedPhase 240659-02-914985
Synonyms:
(+)-a-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)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
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
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
50
Folic Acidapproved, nutraceutical, vet_approvedPhase 2427959-30-36037
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 (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

Interventional clinical trials:

(show all 49)
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
3Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's AtaxiaCompletedNCT02415127Phase 3
4Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of ConceptCompletedNCT00811681Phase 3
5Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's AtaxiaCompletedNCT00537680Phase 3
6A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) PatientsCompletedNCT00905268Phase 3
7Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)CompletedNCT01303406Phase 3
8Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension)CompletedNCT00993967Phase 3
9Efficacy of Riluzole in Hereditary Cerebellar AtaxiaCompletedNCT01104649Phase 2, Phase 3
10Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's DiseaseCompletedNCT00943748Phase 2, Phase 3
11Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia StudyActive, not recruitingNCT02593773Phase 3
12STEADFAST Long-Term Safety ExtensionEnrolling by invitationNCT02797080Phase 3
13Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's AtaxiaTerminatedNCT00803868Phase 2, Phase 3
14A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA PatientsUnknown statusNCT02035020Phase 2
15A Pilot Clinical Trial With the Iron Chelator Deferiprone in Parkinson's DiseaseUnknown statusNCT01539837Phase 2
16Interferon Gamma-1b in Friedreich Ataxia (FRDA)CompletedNCT01965327Phase 2
17A Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's AtaxiaCompletedNCT00530127Phase 1, Phase 2
18EPI-743 in Friedreich's Ataxia Point MutationsCompletedNCT01962363Phase 2
19Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's AtaxiaCompletedNCT01016366Phase 2
20A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's AtaxiaCompletedNCT00897221Phase 2
21A Study of Resveratrol as Treatment for Friedreich AtaxiaCompletedNCT01339884Phase 1, Phase 2
22Idebenone to Treat Friedreich's AtaxiaCompletedNCT00229632Phase 2
23Efficacy Study of Epoetin Alfa in Friedreich AtaxiaCompletedNCT01493973Phase 2
24A First in Human Study of RT001 in Patients With Friedreich's AtaxiaCompletedNCT02445794Phase 1, Phase 2
25Efficacy of Epoetin Alfa in Patients With Friedreich's AtaxiaCompletedNCT00631202Phase 2
26Safety and Efficacy of EPI-743 in Patients With Friedreich's AtaxiaCompletedNCT01728064Phase 2
27Efficacy of EGb761 in Patients Suffering From Friedreich AtaxiaCompletedNCT00824512Phase 2
28Iron-Chelating Therapy and Friedreich AtaxiaCompletedNCT00224640Phase 1, Phase 2
29Safety and Efficacy Study of A0001 in Subjects With Friedreich's AtaxiaCompletedNCT01035671Phase 2
30RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIeRecruitingNCT02255435Phase 2
31(+) Epicatechin to Treat Friedreich's AtaxiaRecruitingNCT02660112Phase 2
32Effect of Nicotinamide in Friedreich's AtaxiaActive, not recruitingNCT01589809Phase 2
33EPI-743 for Mitochondrial Respiratory Chain DiseasesActive, not recruitingNCT01370447Phase 2
34A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
35Phase 1 Trial of Idebenone to Treat Patients With Friedreich's AtaxiaCompletedNCT00078481Phase 1
36Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's AtaxiaCompletedNCT01898884Phase 1
37Safety Study of Idebenone to Treat Friedreich's AtaxiaCompletedNCT00015808Phase 1
38Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic CounselingCompletedNCT00056186
39Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND)CompletedNCT02179333
40Methylprednisolone Treatment of Friedreich AtaxiaRecruitingNCT02424435Early Phase 1
41Rosuvastatin (Crestor) in Friedreich AtaxiaRecruitingNCT02705547Early Phase 1
42Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)RecruitingNCT02069509
43An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's AtaxiaRecruitingNCT01921868
44Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)RecruitingNCT02316314
45A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)RecruitingNCT02840669
46Biomarkers in Friedreich's AtaxiaRecruitingNCT02497534
47Extramembranous and Interosseous Technique of Tibialis Posterior Tendon TransferRecruitingNCT01751503
48Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
49Early 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 Ataxia 126
2 Friedreich's Ataxia26
3 Friedreich Ataxia24 FXN

Anatomical Context for Friedreich Ataxia

About this section

MalaCards organs/tissues related to Friedreich Ataxia:

35
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 458)
idTitleAuthorsYear
1
Oxidative stress and altered lipid metabolism in Friedreich ataxia. (27296838)
2016
2
Cerebral and cerebellar greyA matter atrophy in Friedreich ataxia: the IMAGE-FRDA study. (27522354)
2016
3
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. (27071470)
2016
4
Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation. (27142428)
2016
5
Effects of Genetic Severity on Glucose Homeostasis in Friedreich Ataxia. (27061687)
2016
6
FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. (26393353)
2015
7
MRI Texture Analysis Reveals Bulbar Abnormalities in Friedreich Ataxia. (26359147)
2015
8
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells. (25549872)
2015
9
Identification of telomere dysfunction in Friedreich ataxia. (26059974)
2015
10
Atypical Presentation for Friedreich Ataxia in a Child. (26301374)
2015
11
Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia. (25267338)
2014
12
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia. (23640016)
2013
13
Cognition in late-onset Friedreich ataxia. (23397368)
2013
14
Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length. (23925595)
2013
15
Analysis of the visual system in Friedreich ataxia. (23775342)
2013
16
Decreased functional brain activation in Friedreich ataxia using the Simon effect task. (22542844)
2012
17
Role of mismatch repair enzymes in GAAA^TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells. (22798143)
2012
18
Therapeutic developments in Friedreich ataxia. (22791549)
2012
19
Characterising the neuropathology and neurobehavioural phenotype in Friedreich ataxia: a systematic review. (23560311)
2012
20
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. (21771600)
2011
21
Effects of erythropoietin on frataxin levels and mitochondrial function in Friedreich ataxia--a dose-response trial. (21597884)
2011
22
Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change. (21570254)
2011
23
Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications. (20478553)
2010
24
Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling. (20338762)
2010
25
Exercise capacity and idebenone intervention in children and adolescents with Friedreich ataxia. (20599042)
2010
26
Pharmacotherapy for Friedreich ataxia. (19320530)
2009
27
Friedreich ataxia: the clinical picture. (19283344)
2009
28
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. (18463734)
2008
29
Predictors of progression in patients with Friedreich ataxia. (18759347)
2008
30
Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy. (17203663)
2007
31
Catastrophic visual loss in a patient with Friedreich ataxia. (17296906)
2007
32
The evaluation of left ventricular systolic and diastolic functions in patients with Friedreich ataxia. A pulse tissue Doppler study. (16043940)
2005
33
Increased IRP1 activity in Friedreich ataxia. (15970401)
2005
34
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale. (15824358)
2005
35
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia. (12516053)
2003
36
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. (11823441)
2002
37
Contrast letter acuity as a measure of visual dysfunction in patients with Friedreich ataxia. (12464730)
2002
38
Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat. (11428460)
2001
39
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. (11175786)
2001
40
Atypical Friedreich ataxia with a very late onset and an unusual limited GAA repeat. (10987912)
2000
41
Increased levels of plasma malondialdehyde in Friedreich ataxia. (11113241)
2000
42
Clinical and genetic study of Friedreich ataxia in an Australian population. (10533031)
1999
43
Long Range Polymerase Chain Reaction-Based Diagnosis of Friedreich Ataxia in the Clinical Molecular Diagnostics Laboratory. (10096952)
1998
44
Locus heterogeneity in Friedreich ataxia. (10735274)
1997
45
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. (9153531)
1997
46
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. (9245990)
1997
47
Allele frequencies of DNA markers genetically linked to Friedreich ataxia in the German population. (8103037)
1993
48
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. (6454083)
1981
49
Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia. (569787)
1978
50
Nerve xenografts to assess cellular expression of the abnormality of myelination in inherited neuropathy and Friedreich ataxia. (564481)
1978

Variations for Friedreich Ataxia

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

69
id Symbol AA change Variation ID SNP ID
1FXNp.Asp122TyrVAR_002428rs142157346
2FXNp.Gly130ValVAR_002429rs104894107
3FXNp.Ile154PheVAR_002430rs104894106
4FXNp.Trp155ArgVAR_002431rs138471431
5FXNp.Arg165CysVAR_008139rs138034837
6FXNp.Leu182PheVAR_008140rs139616452
7FXNp.Leu106SerVAR_016065rs104894105
8FXNp.Leu198ArgVAR_016066rs144104124

Clinvar genetic disease variations for Friedreich Ataxia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FXNNM_000144.4(FXN)indelPathogenicrs886037630GRCh37Chr 9, 71668163: 71668168
2FXNNM_000144.4(FXN): c.165+1340_165+1357GAA[6]NT expansionPathogenicGRCh37Chr 9, 71652203: 71652205
3FXNNM_000144.4(FXN): c.317T> G (p.Leu106Ter)SNVPathogenicrs104894105GRCh37Chr 9, 71668109: 71668109
4FXNNM_000144.4(FXN): c.385-2A> GSNVPathogenicrs140987490GRCh37Chr 9, 71679852: 71679852
5FXNNM_000144.4(FXN): c.460A> T (p.Ile154Phe)SNVPathogenicrs104894106GRCh37Chr 9, 71679929: 71679929
6FXNNM_000144.4(FXN): c.389G> T (p.Gly130Val)SNVPathogenicrs104894107GRCh37Chr 9, 71679858: 71679858
7FXNNM_000144.4(FXN): c.3G> T (p.Met1Ile)SNVPathogenicrs104894108GRCh37Chr 9, 71650701: 71650701
8FXNNM_000144.4(FXN): c.157delC (p.Arg53Alafs)deletionPathogenicrs886037611GRCh38Chr 9, 69035939: 69035939

Expression for genes affiliated with Friedreich Ataxia

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Search GEO for disease gene expression data for Friedreich Ataxia.

Pathways for genes affiliated with Friedreich Ataxia

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

idSuper pathwaysScoreTop Affiliating Genes
19.7ACO1, TFRC
29.1FXN, ISCU, LYRM4

GO Terms for genes affiliated with Friedreich Ataxia

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.0FXN, ISCU, LYRM4, MIPEP
2mitochondrionGO:00057397.8ACO1, FTMT, FXN, ISCU, LYRM4, MIPEP

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of lyase activityGO:005134910.6FTMT, FXN
2positive regulation of succinate dehydrogenase activityGO:190423110.6FTMT, FXN
3positive regulation of aconitate hydratase activityGO:190423410.6FTMT, FXN
4intestinal absorptionGO:005089210.3ACO1, TJP2
5iron-sulfur cluster assemblyGO:001622610.1FXN, ISCU
6adult walking behaviorGO:00076289.9CACNA1A, FXN
7small molecule metabolic processGO:00442819.7FXN, ISCU, LYRM4
8response to iron ionGO:00100399.5FXN, TFRC
9cellular iron ion homeostasisGO:00068799.0ACO1, FTMT, FXN, ISCU, TFRC
10cellular response to DNA damage stimulusGO:00069748.8APTX, FMR1, SETX

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

idNameGO IDScoreTop Affiliating Genes
1ferric iron bindingGO:000819910.3FTMT, FXN
2ferroxidase activityGO:000432210.0FTMT, FXN
32 iron, 2 sulfur cluster bindingGO:00515379.8FXN, ISCU
44 iron, 4 sulfur cluster bindingGO:00515399.6ACO1, ISCU
5ferrous iron bindingGO:00081989.4FXN, ISCU

Sources for Friedreich Ataxia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet