MCID: FRD012
MIFTS: 64

Friedreich Ataxia 1

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

Aliases & Classifications for Friedreich Ataxia 1

MalaCards integrated aliases for Friedreich Ataxia 1:

Name: Friedreich Ataxia 1 57 12 29 6 73
Friedreich Ataxia 57 12 24 53 25 54 59 75 37 55 44 15 40 73
Friedreich's Ataxia 12 76 53 29 6 43
Frda 57 24 53 25 59 75
Friedreich Ataxia with Retained Reflexes 57 29 13 6
Fa 57 25 59 75
Hereditary Spinal Ataxia 53 73
Frda1 57 55
Spinocerebellar Ataxia, Friedreich 53
Friedreich Spinocerebellar Ataxia 25
Hereditary Spinal Sclerosis 53
Friedreich Ataxia, Type 1 40
Friedreich's Tabes 12
Friedrich's Ataxia 25

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset before adolescence
most common inherited ataxia
estimated carrier frequency 1/100
patients often nonambulatory by the mid-twenties
major cause of death is heart failure
average age at death is 37 years
most common genetic abnormality is a (gaa)n trinucleotide repeat expansion in intron 1 of the fxn gene
repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats)


HPO:

32
friedreich ataxia 1:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Penetrance is complete in those with biallelic 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 after age 50 years. this variability in age-dependent penetrance can occasionally occur within the same sibship...

Classifications:



Summaries for Friedreich Ataxia 1

NINDS : 54 Friedreich ataxia is a rare inherited disease that causes progressive damage to the nervous system. It is caused by a defect in the FXN gene that produces the protein frataxin. Frataxin controls important steps in mitochondrial iron metabolism and overall cell iron stability. Research suggests that cells that have a reduced level of frataxin produce energy less effectively, which may lead to a buildup of toxic byproducts. Symptoms typically appear between ages 5 and 15 years but can begin in adulthood. Danage to the peripheral nerves and the cerbellum (part of the brain that coordinates balance and movement) results in awkward, unsteady movements and impaired muscle coordination (ataxia) that worsens and eventually spreads to the arms and the trunk of the body. Other symptoms include loss of sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected. Many people with Friedreich ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Some individuals may develop diabetes. 

MalaCards based summary : Friedreich Ataxia 1, also known as friedreich ataxia, is related to fanconi anemia, complementation group a and autoimmune lymphoproliferative syndrome, and has symptoms including ataxia, back pain and headache. An important gene associated with Friedreich Ataxia 1 is FXN (Frataxin), and among its related pathways/superpathways are Iron metabolism in placenta and Mitochondrial iron-sulfur cluster biogenesis. The drugs Bupropion and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and brain, and related phenotypes are nystagmus and diabetes mellitus

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 : 53 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.

OMIM : 57 Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty. It is one of the most common forms of autosomal recessive ataxia, occurring in about 1 in 50,000 individuals. Other variable features include visual defects, scoliosis, pes cavus, and cardiomyopathy (review by Delatycki et al., 2000). Pandolfo (2008) provided an overview of Friedreich ataxia, including pathogenesis, mutation mechanisms, and genotype/phenotype correlation. (229300)

MedlinePlus : 43 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 : 75 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.

Wikipedia : 76 Friedreich\'s ataxia is an autosomal recessive inherited disease that causes progressive damage to the... more...

GeneReviews: NBK1281

Related Diseases for Friedreich Ataxia 1

Diseases in the Friedreich Ataxia 1 family:

Friedreich Ataxia 2

Diseases related to Friedreich Ataxia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 137)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 12.0
2 autoimmune lymphoproliferative syndrome 11.7
3 fetal alcohol syndrome 11.7
4 fetal alcohol spectrum disorder 11.3
5 alcohol-related birth defect 11.2
6 friedreich ataxia 2 11.1
7 harding ataxia 11.1
8 fanconi anemia, complementation group d2 10.9
9 fanconi anemia, complementation group b 10.9
10 fanconi anemia, complementation group f 10.9
11 fanconi anemia, complementation group d1 10.9
12 fanconi anemia, complementation group i 10.9
13 fanconi anemia, complementation group j 10.9
14 fanconi anemia, complementation group n 10.9
15 fanconi anemia, complementation group o 10.9
16 fanconi anemia, complementation group g 10.9
17 fanconi anemia, complementation group l 10.9
18 fundus albipunctatus 10.9
19 dianzani autoimmune lymphoproliferative disease 10.9
20 otodental dysplasia 10.8
21 fanconi anemia, complementation group c 10.8
22 fanconi anemia, complementation group e 10.8
23 caspase 8 deficiency 10.8
24 fanconi anemia, complementation group p 10.8
25 fanconi anemia, complementation group q 10.8
26 spinocerebellar ataxia 18 10.6 ATXN3 CACNA1A
27 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.6 APTX SETX TTPA
28 spastic ataxia, charlevoix-saguenay type 10.4 APTX FXN SETX TTPA
29 spinocerebellar ataxia 31 10.4 ATXN3 CACNA1A SETX
30 vitamin e, familial isolated deficiency of 10.4 APTX FXN SETX TTPA
31 colorectal adenoma 10.4
32 lymphoma 10.4
33 spinocerebellar ataxia 6 10.3 ATXN3 CACNA1A
34 leukemia 10.3
35 hepatitis 10.3
36 central nervous system disease 10.3 ATXN3 CACNA1A FXN
37 anemia, sideroblastic, and spinocerebellar ataxia 10.3 ABCB7 ACO1 FXN
38 thyroiditis 10.2
39 prostatitis 10.2
40 squamous cell carcinoma 10.2
41 lymphoproliferative syndrome 10.2
42 melanoma 10.2
43 endotheliitis 10.2
44 nervous system disease 10.2 ATXN3 CACNA1A FXN
45 glioma 10.2
46 hepatocellular carcinoma 10.2
47 atransferrinemia 10.2 ABCB7 FXN TFRC
48 neuronal intranuclear inclusion disease 10.2 ATXN1 ATXN3
49 breast cancer 10.2
50 lung cancer 10.2

Comorbidity relations with Friedreich Ataxia 1 via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Friedreich Ataxia 1:



Diseases related to Friedreich Ataxia 1

Symptoms & Phenotypes for Friedreich Ataxia 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
visual field defects
reduced visual acuity (less common)
reduced retinal nerve fiber layer thickness
more
Endocrine Features:
diabetes mellitus

Cardiovascular Heart:
hypertrophic cardiomyopathy

Laboratory Abnormalities:
abnormal ekg
abnormal echocardiogram
abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem
low pyruvate carboxylase activity in liver and cultured fibroblasts
decreased mitochondrial malic enzyme

Neurologic Central Nervous System:
nystagmus
dysarthria
impaired proprioception
gait and limb ataxia
impaired vibratory sense

Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
extensor plantar responses
peripheral sensory neuropathy
abnormal motor and sensory nerve conduction
absent lower limb tendon reflexes


Clinical features from OMIM:

229300

Human phenotypes related to Friedreich Ataxia 1:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
3 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
4 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
5 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
6 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
7 chorea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002072
8 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
9 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
10 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
11 gait ataxia 59 32 obligate (100%) Obligate (100%) HP:0002066
12 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
13 gait imbalance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002141
14 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
15 hand muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009130
16 impaired proprioception 59 32 hallmark (90%) Very frequent (99-80%) HP:0010831
17 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
18 cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001638
19 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
20 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
21 areflexia of lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002522
22 falls 59 32 frequent (33%) Frequent (79-30%) HP:0002527
23 urinary bladder sphincter dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0002839
24 sensory axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003390
25 poor fine motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0007010
26 cervical spinal cord atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0010873
27 impaired visually enhanced vestibulo-ocular reflex 59 32 frequent (33%) Frequent (79-30%) HP:0030183
28 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
29 inability to walk 59 32 occasional (7.5%) Occasional (29-5%) HP:0002540
30 incomprehensible speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002546
31 decreased motor nerve conduction velocity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003431
32 reduced visual acuity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007663
33 visual impairment 32 occasional (7.5%) HP:0000505
34 abnormality of visual evoked potentials 32 HP:0000649
35 hypertrophic cardiomyopathy 32 HP:0001639
36 sensory neuropathy 32 HP:0000763
37 congestive heart failure 32 HP:0001635
38 abnormality of the foot 59 Frequent (79-30%)
39 visual field defect 32 HP:0001123
40 impaired vibratory sensation 32 HP:0002495
41 abnormal ekg 32 HP:0003115
42 decreased sensory nerve conduction velocity 32 HP:0003448
43 abnormal echocardiogram 32 HP:0003116
44 decreased amplitude of sensory action potentials 32 HP:0007078
45 mitochondrial malic enzyme reduced 32 HP:0003232
46 decreased pyruvate carboxylase activity 32 HP:0003209

UMLS symptoms related to Friedreich Ataxia 1:


ataxia, back pain, headache, myoclonus, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness, cerebellar ataxia/dyskinesia

GenomeRNAi Phenotypes related to Friedreich Ataxia 1 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.58 ACO1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.58 FXN
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.58 ACO1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.58 ISCU
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.58 ACO1 FXN TTPA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.58 FXN TTPA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.58 FXN
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.58 FXN
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.58 TTPA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.58 ACO1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.58 TTPA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.58 ACO1 FXN ISCU TTPA

Drugs & Therapeutics for Friedreich Ataxia 1

Drugs for Friedreich Ataxia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4 Antidepressive Agents Phase 4
5 Antidepressive Agents, Second-Generation Phase 4
6 Antiparkinson Agents Phase 4
7 Autonomic Agents Phase 4,Early Phase 1
8 Cholinergic Agents Phase 4,Phase 2,Phase 3
9 Cholinergic Antagonists Phase 4
10 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
11 Cytochrome P-450 Enzyme Inhibitors Phase 4
12 Dopamine Agents Phase 4
13 Dopamine Uptake Inhibitors Phase 4
14 Muscarinic Antagonists Phase 4
15 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
16 Neurotransmitter Uptake Inhibitors Phase 4
17 Parasympatholytics Phase 4
18 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2,Early Phase 1
19 Psychotropic Drugs Phase 4
20 Serotonin Agents Phase 4
21 Serotonin Uptake Inhibitors Phase 4
22
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
23
Deferiprone Approved Phase 2, Phase 3,Phase 1 30652-11-0 2972
24
Iron Approved Phase 2, Phase 3,Phase 1 7439-89-6 23925
25
Idebenone Approved, Investigational Phase 3,Phase 2,Phase 1 58186-27-9
26
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
27
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
28
Varenicline Approved, Investigational Phase 2, Phase 3 249296-44-4 5310966
29 Micronutrients Phase 3,Phase 2,Phase 1,Not Applicable
30 Trace Elements Phase 3,Phase 2,Phase 1,Not Applicable
31 Ubiquinone Phase 3,Phase 2,Phase 1
32 Chelating Agents Phase 2, Phase 3,Phase 1
33 Iron Chelating Agents Phase 2, Phase 3,Phase 1
34 Anti-Infective Agents Phase 3,Phase 2
35 Antiviral Agents Phase 3,Phase 2
36 Interferon-gamma Phase 3,Phase 2
37 interferons Phase 3,Phase 2
38 Antioxidants Phase 3,Phase 2,Phase 1
39 Protective Agents Phase 3,Phase 2,Phase 1,Early Phase 1
40 Hypoglycemic Agents Phase 3
41 Anticonvulsants Phase 2, Phase 3
42 Excitatory Amino Acid Antagonists Phase 2, Phase 3
43 Excitatory Amino Acids Phase 2, Phase 3
44 Neuroprotective Agents Phase 2, Phase 3,Early Phase 1
45 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
46 Nicotinic Agonists Phase 2, Phase 3
47
Guaifenesin Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 93-14-1 3516
48
Resveratrol Approved, Experimental, Investigational Phase 1, Phase 2 501-36-0 445154
49
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
50
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Not Applicable 59-30-3 6037

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4 bupropion & Citalopram;Bupropion & Placebo;Placebo & Citalopram;Placebo & Placebo
2 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3 Interferon γ-1b;Placebo
3 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3 Interferon γ-1b
4 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3 Idebenone
5 Long-Term Safety Extension Study of ACTIMMUNE® (Interferon γ-1b) in Children and Young Adults With Friedreich's Ataxia Completed NCT02797080 Phase 3 interferon γ-1b
6 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3 Idebenone;Idebenone;Placebo
7 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
8 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3 idebenone;Placebo
9 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3 Idebenone;Placebo
10 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3 idebenone
11 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3 riluzole;Placebo comparator
12 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
13 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
14 A Pilot Clinical Trial With the Iron Chelator Deferiprone in Parkinson's Disease Unknown status NCT01539837 Phase 2 Deferiprone;Placebo
15 EPI-743 for Mitochondrial Respiratory Chain Diseases Unknown status NCT01370447 Phase 2 EPI-743
16 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
17 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2 EPI-743
18 A Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00530127 Phase 1, Phase 2 placebo;deferiprone;deferiprone;placebo;deferiprone
19 Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia Completed NCT01016366 Phase 2 Lu AA24493;Placebo
20 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 RT001;RT001 comparator
21 A Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
22 A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00897221 Phase 2 Deferiprone oral solution 100mg/mL;Deferiprone oral solution 100 mg/mL
23 Efficacy Study of Epoetin Alfa in Friedreich Ataxia Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
24 Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia Completed NCT01728064 Phase 2 Placebo;EPI-743 400 mg;EPI-743 200 mg
25 Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia Completed NCT00824512 Phase 2 EGb 761 120 mg;Placebo
26 Idebenone to Treat Friedreich's Ataxia Completed NCT00229632 Phase 2 Idebenone
27 Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2 Epoetin alfa
28 Iron-Chelating Therapy and Friedreich Ataxia Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
29 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);alpha-tocopherolquinone (A0001);placebo
30 A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients Completed NCT02035020 Phase 2 gamma interferon
31 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
32 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Recruiting NCT02255435 Phase 2 Omaveloxolone Capsules, 2.5 mg;Omaveloxolone Capsules, 5 mg;Omaveloxolone Capsules, 10 mg;Placebo;Omaveloxolone Capsules, 20 mg;Omaveloxolone Capsules, 40 mg;Omaveloxolone Capsules, 80 mg;Omaveloxolone Capsules, 160 mg;Omaveloxolone Capsules, 300 mg;Omaveloxolone Capsules, 150 mg
33 Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adults With Friedreich Ataxia Recruiting NCT03214588 Phase 2 TAK-831;TAK-831 Placebo
34 (+) Epicatechin to Treat Friedreich's Ataxia Active, not recruiting NCT02660112 Phase 2 (+)-Epicatechin
35 Effect of Nicotinamide in Friedreich's Ataxia Active, not recruiting NCT01589809 Phase 2 nicotinamide
36 Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia Completed NCT01898884 Phase 1 VP 20629;Placebo
37 Phase 1 Trial of Idebenone to Treat Patients With Friedreich's Ataxia Completed NCT00078481 Phase 1 Idebenone
38 Safety Study of Idebenone to Treat Friedreich's Ataxia Completed NCT00015808 Phase 1 Idebenone
39 An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia Unknown status NCT01921868 Not Applicable Acetyl-L-Carnitine
40 Methylprednisolone Treatment of Friedreich Ataxia Completed NCT02424435 Early Phase 1 Methylprednisolone
41 Rosuvastatin (Crestor) in Friedreich Ataxia Completed NCT02705547 Early Phase 1 Rosuvastatin
42 Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling Completed NCT00056186
43 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
44 Biomarkers in Friedreich's Ataxia Recruiting NCT02497534
45 FA Clinical Outcome Measures Recruiting NCT03090789
46 Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) Recruiting NCT02069509
47 Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia Recruiting NCT03285204
48 Neurology Measures in FA Children Recruiting NCT03418740
49 Genetic and Environmental Determinants That Control Metabolism in Pulmonary Hypertension Recruiting NCT02594917
50 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Friedreich Ataxia 1

Cochrane evidence based reviews: friedreich ataxia

Genetic Tests for Friedreich Ataxia 1

Genetic tests related to Friedreich Ataxia 1:

# Genetic test Affiliating Genes
1 Friedreich Ataxia 1 29 FXN
2 Friedreich's Ataxia 29
3 Friedreich Ataxia with Retained Reflexes 29

Anatomical Context for Friedreich Ataxia 1

MalaCards organs/tissues related to Friedreich Ataxia 1:

41
Heart, Spinal Cord, Brain, Eye, Testes, Liver, Cerebellum

Publications for Friedreich Ataxia 1

Articles related to Friedreich Ataxia 1:

(show top 50) (show all 476)
# Title Authors Year
1
Cardiac transplantation in Friedreich Ataxia: Extended follow-up. ( 28109580 )
2017
2
Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients. ( 27814974 )
2017
3
How does performance of the Friedreich Ataxia Functional Composite compare to rating scales? ( 28695363 )
2017
4
Friedreich Ataxia: current status and future prospects. ( 28405347 )
2017
5
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia. ( 28228265 )
2017
6
Deletion of the GAA repeats from the human frataxin gene using the CRISPR-Cas9 system in YG8R-derived cells and mouse models of Friedreich ataxia. ( 28024081 )
2017
7
Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia. ( 28789479 )
2017
8
Dysphagia in Friedreich Ataxia. ( 28474131 )
2017
9
Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140A years later. ( 28620720 )
2017
10
Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia. ( 28852135 )
2017
11
Pharmacological therapeutics in Friedreich ataxia: the present state. ( 28724340 )
2017
12
Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study. ( 28556242 )
2017
13
Impact of diabetes in the Friedreich ataxia clinical outcome measures study. ( 28904984 )
2017
14
Selected missense mutations impair frataxin processing in Friedreich ataxia. ( 28812047 )
2017
15
Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia. ( 28082326 )
2017
16
Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia. ( 28229372 )
2017
17
Cerebral abnormalities in Friedreich ataxia: A review. ( 28823857 )
2017
18
Mechanisms of unexpected death and autopsy findings in Friedreich ataxia. ( 28803513 )
2017
19
A longitudinal study of the SF-36 version 2 in Friedreich ataxia. ( 27679455 )
2016
20
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia. ( 27106929 )
2016
21
Friedreich ataxia induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor. ( 27594434 )
2016
22
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. ( 27071470 )
2016
23
Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia. ( 26879839 )
2016
24
Idebenone in Friedreich ataxia and Leber's hereditary optic neuropathy: close mechanisms, similar therapy? ( 27095078 )
2016
25
Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling. ( 26906906 )
2016
26
Oxidative stress and altered lipid metabolism in Friedreich ataxia. ( 27296838 )
2016
27
Effects of Genetic Severity on Glucose Homeostasis in Friedreich Ataxia. ( 27061687 )
2016
28
Pharmacological treatments for Friedreich ataxia. ( 27572719 )
2016
29
Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation. ( 27142428 )
2016
30
Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes. ( 27547137 )
2016
31
Cerebral and cerebellar greyA matter atrophy in Friedreich ataxia: the IMAGE-FRDA study. ( 27522354 )
2016
32
Acquired Pulmonary Vein Isolation in a Patient with Friedreich Ataxia. ( 26920184 )
2016
33
Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy. ( 27019046 )
2016
34
Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor. ( 28175303 )
2016
35
Voice in Friedreich Ataxia. ( 27501923 )
2016
36
Variable sensory nerve conduction parameters in late onset Friedreich ataxia. ( 27491039 )
2016
37
The Effect of Piracetam on Friedreich Ataxia. ( 27171570 )
2016
38
Vestibulo-ocular reflex dynamics withA head-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 andA Friedreich ataxia. ( 27392837 )
2016
39
Friedreich Ataxia and nephrotic syndrome: a series of two patients. ( 26755195 )
2016
40
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes. ( 26754264 )
2016
41
Abundance and Significance of Iron, Zinc, Copper, and Calcium in the Hearts of Patients With Friedreich Ataxia. ( 27189813 )
2016
42
Mitochondrial capacity, muscle endurance &amp;amp; low energy in friedreich ataxia. ( 28000230 )
2016
43
Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia. ( 27668106 )
2016
44
Clinical Experience With Deferiprone Treatment for Friedreich Ataxia. ( 27029487 )
2016
45
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia. ( 27488863 )
2016
46
Progression of Friedreich ataxia: quantitative characterization over 5 years. ( 27648458 )
2016
47
Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study. ( 27010617 )
2016
48
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. ( 26704351 )
2016
49
Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts. ( 27518705 )
2016
50
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia. ( 27079523 )
2016

Variations for Friedreich Ataxia 1

UniProtKB/Swiss-Prot genetic disease variations for Friedreich Ataxia 1:

75
# Symbol AA change Variation ID SNP ID
1 FXN p.Asp122Tyr VAR_002428 rs142157346
2 FXN p.Gly130Val VAR_002429 rs104894107
3 FXN p.Ile154Phe VAR_002430 rs104894106
4 FXN p.Trp155Arg VAR_002431 rs138471431
5 FXN p.Arg165Cys VAR_008139 rs138034837
6 FXN p.Leu182Phe VAR_008140 rs139616452
7 FXN p.Leu106Ser VAR_016065 rs104894105
8 FXN p.Leu198Arg VAR_016066 rs144104124

ClinVar genetic disease variations for Friedreich Ataxia 1:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 FXN NM_000144.4(FXN): c.165+1340_165+1357GAA[6] NT expansion Pathogenic GRCh37 Chromosome 9, 71652203: 71652205
2 FXN NM_000144.4(FXN): c.165+1340_165+1357GAA[6] NT expansion Pathogenic GRCh38 Chromosome 9, 69037287: 69037289
3 FXN NM_000144.4(FXN): c.317T> G (p.Leu106Ter) single nucleotide variant Pathogenic rs104894105 GRCh37 Chromosome 9, 71668109: 71668109
4 FXN NM_000144.4(FXN): c.317T> G (p.Leu106Ter) single nucleotide variant Pathogenic rs104894105 GRCh38 Chromosome 9, 69053193: 69053193
5 FXN NM_000144.4(FXN): c.385-2A> G single nucleotide variant Pathogenic rs140987490 GRCh37 Chromosome 9, 71679852: 71679852
6 FXN NM_000144.4(FXN): c.385-2A> G single nucleotide variant Pathogenic rs140987490 GRCh38 Chromosome 9, 69064936: 69064936
7 FXN NM_000144.4(FXN): c.460A> T (p.Ile154Phe) single nucleotide variant Pathogenic rs104894106 GRCh37 Chromosome 9, 71679929: 71679929
8 FXN NM_000144.4(FXN): c.460A> T (p.Ile154Phe) single nucleotide variant Pathogenic rs104894106 GRCh38 Chromosome 9, 69065013: 69065013
9 FXN NM_000144.4(FXN): c.389G> T (p.Gly130Val) single nucleotide variant Pathogenic rs104894107 GRCh37 Chromosome 9, 71679858: 71679858
10 FXN NM_000144.4(FXN): c.389G> T (p.Gly130Val) single nucleotide variant Pathogenic rs104894107 GRCh38 Chromosome 9, 69064942: 69064942
11 FXN NM_000144.4(FXN): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs104894108 GRCh37 Chromosome 9, 71650701: 71650701
12 FXN NM_000144.4(FXN): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs104894108 GRCh38 Chromosome 9, 69035785: 69035785
13 FXN NM_000144.4(FXN): c.517T> G (p.Trp173Gly) single nucleotide variant Likely pathogenic rs56214919 GRCh37 Chromosome 9, 71687562: 71687562
14 FXN NM_000144.4(FXN): c.517T> G (p.Trp173Gly) single nucleotide variant Likely pathogenic rs56214919 GRCh38 Chromosome 9, 69072646: 69072646
15 FXN NM_000144.4(FXN): c.157delC (p.Arg53Alafs) deletion Pathogenic rs886037611 GRCh38 Chromosome 9, 69035939: 69035939
16 FXN NM_000144.4(FXN): c.157delC (p.Arg53Alafs) deletion Pathogenic rs886037611 GRCh37 Chromosome 9, 71650855: 71650855
17 FXN NM_000144.4(FXN) indel Pathogenic rs886037630 GRCh37 Chromosome 9, 71668163: 71668168
18 FXN NM_000144.4(FXN) indel Pathogenic rs886037630 GRCh38 Chromosome 9, 69053247: 69053252

Expression for Friedreich Ataxia 1

Search GEO for disease gene expression data for Friedreich Ataxia 1.

Pathways for Friedreich Ataxia 1

Pathways related to Friedreich Ataxia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.03 ACO1 TFRC
2 9.88 FXN ISCU LYRM4 NFS1

GO Terms for Friedreich Ataxia 1

Cellular components related to Friedreich Ataxia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 ABCB7 ACO1 FTMT FXN ISCU LYRM4
2 mitochondrial matrix GO:0005759 9.17 ATXN3 FTMT FXN ISCU LYRM4 MIPEP
3 nuclear inclusion body GO:0042405 9.16 ATXN1 ATXN3

Biological processes related to Friedreich Ataxia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of translation GO:0006417 9.61 ACO1 ATXN2 FMR1
2 iron-sulfur cluster assembly GO:0016226 9.4 FXN ISCU
3 positive regulation of aconitate hydratase activity GO:1904234 9.37 FTMT FXN
4 iron incorporation into metallo-sulfur cluster GO:0018283 9.32 FXN NFS1
5 positive regulation of lyase activity GO:0051349 9.26 FTMT FXN
6 small molecule metabolic process GO:0044281 9.26 FXN ISCU LYRM4 NFS1
7 positive regulation of succinate dehydrogenase activity GO:1904231 9.16 FTMT FXN
8 cellular iron ion homeostasis GO:0006879 9.1 ABCB7 ACO1 FTMT FXN ISCU TFRC

Molecular functions related to Friedreich Ataxia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 2 iron, 2 sulfur cluster binding GO:0051537 9.4 FXN ISCU
2 ferrous iron binding GO:0008198 9.37 FXN ISCU
3 iron-sulfur cluster binding GO:0051536 9.33 ACO1 ISCU NFS1
4 poly(U) RNA binding GO:0008266 9.32 ATXN1 FMR1
5 ferric iron binding GO:0008199 9.26 FTMT FXN
6 poly(G) binding GO:0034046 8.96 ATXN1 FMR1
7 ferroxidase activity GO:0004322 8.62 FTMT FXN

Sources for Friedreich Ataxia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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