FRDA
MCID: FRD012
MIFTS: 66

Friedreich Ataxia 1 (FRDA)

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

Aliases & Classifications for Friedreich Ataxia 1

MalaCards integrated aliases for Friedreich Ataxia 1:

Name: Friedreich Ataxia 1 58 12 30 6 74
Friedreich Ataxia 58 12 25 54 26 55 60 76 38 56 45 15 41 74
Friedreich's Ataxia 12 77 54 30 6 44
Frda 58 25 54 26 60 76
Friedreich Ataxia with Retained Reflexes 58 30 13 6
Fa 58 26 60 76
Hereditary Spinal Ataxia 54 74
Frda1 58 56
Spinocerebellar Ataxia, Friedreich 54
Friedreich Spinocerebellar Ataxia 26
Hereditary Spinal Sclerosis 54
Friedreich Ataxia, Type 1 41
Friedreich's Tabes 12
Friedrich's Ataxia 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
friedreich ataxia 1:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


GeneReviews:

25
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 : 55 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. Damage to the peripheral nerves and the cerebellum (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 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and spastic ataxia, charlevoix-saguenay type, and has symptoms including seizures, ataxia and tremor. 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 Dopamine have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and t cells, and related phenotypes are gait ataxia and dysarthria

Genetics Home Reference : 26 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 : 54 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 : 58 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 : 44 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 : 76 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 : 77 Friedreich''s ataxia (FRDA, or FA) is an autosomal recessive genetic disease that causes difficulty... 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 759)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.4 APTX SETX TTPA
2 spastic ataxia, charlevoix-saguenay type 32.0 TTPA SETX FXN APTX
3 vitamin e, familial isolated deficiency of 32.0 SETX FXN APTX TTPA
4 anemia, sideroblastic, and spinocerebellar ataxia 31.8 TTPA FXN ACO1 ABCB7
5 dentatorubral-pallidoluysian atrophy 30.2 ATXN2 ATXN3 CACNA1A
6 spinocerebellar ataxia 1 30.2 ATXN1 ATXN3 ATXN8OS CACNA1A
7 restless legs syndrome 30.2 ATXN3 FTMT TFRC
8 hemochromatosis, type 1 30.1 ABCB7 ACO1 FXN TFRC
9 spinocerebellar degeneration 30.1 ATXN1 TTPA
10 machado-joseph disease 30.1 ATXN1 ATXN2 ATXN3 CACNA1A
11 autosomal dominant cerebellar ataxia 29.9 ATXN2 ATXN1 ATXN3 ATXN8OS CACNA1A FXN
12 spinocerebellar ataxia 12 29.7 ATXN1 ATXN2 ATXN3 ATXN8OS CACNA1A
13 aceruloplasminemia 29.0 TTPA SETX FXN FMR1 CACNA1A ATXN3
14 hereditary ataxia 28.9 SETX FXN FMR1 CACNA1A ATXN3 ATXN2
15 friedreich ataxia and congenital glaucoma 12.3
16 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 12.2
17 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined 12.2
18 fanconi anemia, complementation group a 12.2
19 autoimmune lymphoproliferative syndrome 11.9
20 fetal alcohol syndrome 11.9
21 fetal alcohol spectrum disorder 11.5
22 fanconi anemia, complementation group d2 11.4
23 fanconi anemia, complementation group i 11.4
24 fanconi anemia, complementation group j 11.4
25 fanconi anemia, complementation group l 11.4
26 fanconi anemia, complementation group n 11.4
27 fanconi anemia, complementation group c 11.3
28 fanconi anemia, complementation group e 11.3
29 friedreich ataxia 2 11.3
30 harding ataxia 11.3
31 ataxia with vitamin e deficiency 11.2
32 scoliosis, isolated 1 11.2
33 mohr-tranebjaerg syndrome 11.2
34 mitochondrial dna depletion syndrome 7 11.2
35 auditory neuropathy, autosomal dominant, 1 11.2
36 fanconi anemia, complementation group b 11.1
37 fanconi anemia, complementation group f 11.1
38 fanconi anemia, complementation group d1 11.1
39 fanconi anemia, complementation group o 11.1
40 fanconi anemia, complementation group g 11.1
41 fundus albipunctatus 11.1
42 dianzani autoimmune lymphoproliferative disease 11.1
43 otodental dysplasia 11.0
44 caspase 8 deficiency 11.0
45 fanconi anemia, complementation group p 11.0
46 fanconi anemia, complementation group q 11.0
47 ataxia and polyneuropathy, adult-onset 10.6
48 colorectal adenoma 10.5
49 leukemia 10.5
50 lymphoma 10.5

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

Human phenotypes related to Friedreich Ataxia 1:

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 60 33 obligate (100%) Obligate (100%) HP:0002066
2 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
3 limb ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002070
4 gait imbalance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002141
5 babinski sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003487
6 hand muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009130
7 impaired proprioception 60 33 hallmark (90%) Very frequent (99-80%) HP:0010831
8 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
9 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
10 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
11 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
12 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
13 cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001638
14 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
15 intention tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002080
16 areflexia of lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002522
17 falls 60 33 frequent (33%) Frequent (79-30%) HP:0002527
18 urinary bladder sphincter dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0002839
19 sensory axonal neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003390
20 poor fine motor coordination 60 33 frequent (33%) Frequent (79-30%) HP:0007010
21 cervical spinal cord atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0010873
22 impaired visually enhanced vestibulo-ocular reflex 60 33 frequent (33%) Frequent (79-30%) HP:0030183
23 abnormal saccadic eye movements 33 frequent (33%) HP:0000570
24 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
25 spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001257
26 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
27 chorea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002072
28 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
29 dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001332
30 inability to walk 60 33 occasional (7.5%) Occasional (29-5%) HP:0002540
31 incomprehensible speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0002546
32 decreased motor nerve conduction velocity 60 33 occasional (7.5%) Occasional (29-5%) HP:0003431
33 reduced visual acuity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007663
34 abnormality of visual evoked potentials 33 HP:0000649
35 hypertrophic cardiomyopathy 33 HP:0001639
36 sensory neuropathy 33 HP:0000763
37 congestive heart failure 33 HP:0001635
38 abnormality of saccadic eye movements 60 Frequent (79-30%)
39 abnormality of the foot 60 Frequent (79-30%)
40 visual field defect 33 HP:0001123
41 impaired vibratory sensation 33 HP:0002495
42 abnormal ekg 33 HP:0003115
43 decreased sensory nerve conduction velocity 33 HP:0003448
44 abnormal echocardiogram 33 HP:0003116
45 decreased amplitude of sensory action potentials 33 HP:0007078
46 mitochondrial malic enzyme reduced 33 HP:0003232
47 decreased pyruvate carboxylase activity 33 HP:0003209

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Friedreich Ataxia 1:


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

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

27 (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

MGI Mouse Phenotypes related to Friedreich Ataxia 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.36 ABCB7 ACO1 APTX ATXN1 ATXN2 ATXN3

Drugs & Therapeutics for Friedreich Ataxia 1

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

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3
Citalopram Approved Phase 4 59729-33-8 2771
4 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
5 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
6 Dopamine Uptake Inhibitors Phase 4
7 Peripheral Nervous System Agents Phase 4,Phase 1,Phase 2,Early Phase 1
8 Antidepressive Agents Phase 4
9 Cytochrome P-450 Enzyme Inhibitors Phase 4
10 Neurotransmitter Uptake Inhibitors Phase 4
11 Serotonin Uptake Inhibitors Phase 4
12 Cholinergic Antagonists Phase 4
13 Antidepressive Agents, Second-Generation Phase 4
14 Serotonin Agents Phase 4
15 Muscarinic Antagonists Phase 4
16 Antiparkinson Agents Phase 4
17 Parasympatholytics Phase 4
18 Psychotropic Drugs Phase 4
19 Cholinergic Agents Phase 4,Phase 2,Phase 3
20 Autonomic Agents Phase 4,Early Phase 1
21 Dopamine Agents 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, Experimental Phase 2, Phase 3,Phase 1 7439-89-6, 15438-31-0 27284 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 Nutrients Phase 3,Phase 2,Phase 1,Not Applicable
31 Trace Elements Phase 3,Phase 2,Phase 1,Not Applicable
32 Iron Chelating Agents Phase 2, Phase 3,Phase 1
33 Chelating Agents Phase 2, Phase 3,Phase 1
34 Antiviral Agents Phase 3,Phase 2
35 Interferon-gamma Phase 3,Phase 2
36 Anti-Infective Agents Phase 3,Phase 2
37 interferons Phase 3,Phase 2
38 Ubiquinone Phase 3,Phase 2,Phase 1
39 Antioxidants Phase 3,Phase 2,Phase 1
40 Protective Agents Phase 3,Phase 2,Phase 1,Early Phase 1
41 Hypoglycemic Agents Phase 3
42 Excitatory Amino Acid Antagonists Phase 2, Phase 3
43 Anticonvulsants Phase 2, Phase 3
44 Excitatory Amino Acids Phase 2, Phase 3
45 Neuroprotective Agents Phase 2, Phase 3,Early Phase 1
46 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
47 Nicotinic Agonists Phase 2, Phase 3
48
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
49
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
50
Guaifenesin Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 93-14-1 3516

Interventional clinical trials:

(show top 50) (show all 63)
# 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 Troriluzole in Adult Subjects With Spinocerebellar Ataxia Recruiting NCT03701399 Phase 3 troriluzole;Placebos
14 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3 varenicline;placebo
15 Effect of Nicotinamide in Friedreich's Ataxia Unknown status NCT01589809 Phase 2 nicotinamide
16 A Pilot Clinical Trial With the Iron Chelator Deferiprone in Parkinson's Disease Unknown status NCT01539837 Phase 2 Deferiprone;Placebo
17 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2 Interferon Gamma-1b
18 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2 EPI-743
19 (+) Epicatechin to Treat Friedreich's Ataxia Completed NCT02660112 Phase 2 (+)-Epicatechin
20 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
21 Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia Completed NCT01016366 Phase 2 Lu AA24493;Placebo
22 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2 RT001;RT001 comparator
23 A Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2 Resveratrol
24 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
25 Open Trail of γIFN for Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
26 Efficacy Study of Epoetin Alfa in Friedreich Ataxia Completed NCT01493973 Phase 2 Epoetin alfa;Placebo
27 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
28 Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia Completed NCT00824512 Phase 2 EGb 761 120 mg;Placebo
29 Idebenone to Treat Friedreich's Ataxia Completed NCT00229632 Phase 2 Idebenone
30 Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2 Epoetin alfa
31 Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adults With Friedreich Ataxia Completed NCT03214588 Phase 2 TAK-831;TAK-831 Placebo
32 Iron-Chelating Therapy and Friedreich Ataxia Completed NCT00224640 Phase 1, Phase 2 Iron chelating intervention
33 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2 alpha-tocopherolquinone (A0001);alpha-tocopherolquinone (A0001);placebo
34 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
35 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
36 A Clinical Study to Evaluate the Effect of MIN-102 on the Progression of Friedreich's Ataxia in Male and Female Patients Recruiting NCT03917225 Phase 2 MIN-102;Placebo
37 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Active, not 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
38 Effect of Nilotinib in Cerebellar Ataxia Patients Active, not recruiting NCT03932669 Phase 2 Nilotinib
39 EPI-743 for Mitochondrial Respiratory Chain Diseases Active, not recruiting NCT01370447 Phase 2 EPI-743
40 Study of the Efficacy and Safety of Nicotinamide in Patients With Friedreich Ataxia Not yet recruiting NCT03761511 Phase 2 Nicotinamide;Placebo
41 Micronised Resveratrol as a Treatment for Friedreich Ataxia Not yet recruiting NCT03933163 Phase 2 Resveratrol
42 Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia Completed NCT01898884 Phase 1 VP 20629;Placebo
43 Phase 1 Trial of Idebenone to Treat Patients With Friedreich's Ataxia Completed NCT00078481 Phase 1 Idebenone
44 Safety Study of Idebenone to Treat Friedreich's Ataxia Completed NCT00015808 Phase 1 Idebenone
45 Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) Unknown status NCT02069509
46 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
47 Methylprednisolone Treatment of Friedreich Ataxia Completed NCT02424435 Early Phase 1 Methylprednisolone
48 Rosuvastatin (Crestor) in Friedreich Ataxia Completed NCT02705547 Early Phase 1 Rosuvastatin
49 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) Completed NCT02840669 Not Applicable
50 Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling Completed NCT00056186

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 30 FXN
2 Friedreich's Ataxia 30
3 Friedreich Ataxia with Retained Reflexes 30

Anatomical Context for Friedreich Ataxia 1

MalaCards organs/tissues related to Friedreich Ataxia 1:

42
Heart, Brain, T Cells, Eye, Spinal Cord, Liver, Cerebellum

Publications for Friedreich Ataxia 1

Articles related to Friedreich Ataxia 1:

(show top 50) (show all 543)
# Title Authors Year
1
Erythropoietin and Friedreich Ataxia: Time for a Reappraisal? ( 31105516 )
2019
2
Probing the multifactorial source of hand dysfunction in Friedreich ataxia. ( 31023572 )
2019
3
Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich Ataxia. ( 30911578 )
2019
4
OGTT is recommended for glucose homeostasis assessments in Friedreich ataxia. ( 30656194 )
2019
5
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia. ( 30656180 )
2019
6
Young adult with Friedreich ataxia. ( 30647096 )
2019
7
Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia. ( 30624809 )
2019
8
Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures. ( 30552117 )
2019
9
Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study. ( 29945881 )
2019
10
Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil. ( 29938355 )
2019
11
Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia. ( 30596685 )
2018
12
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models. ( 30590615 )
2018
13
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare. ( 30519163 )
2018
14
Depressive symptoms in Friedreich ataxia. ( 30487906 )
2018
15
Corneal confocal microscopy: Neurologic disease biomarker in Friedreich ataxia. ( 30294800 )
2018
16
Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises. ( 30286776 )
2018
17
Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon? ( 30235822 )
2018
18
Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia. ( 30227349 )
2018
19
Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag. ( 30195758 )
2018
20
Child Neurology: Friedreich ataxia with upper motor neuron findings: A case study. ( 30150266 )
2018
21
Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). ( 30097477 )
2018
22
Longitudinal analysis of contrast acuity in Friedreich ataxia. ( 30065952 )
2018
23
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia. ( 29853274 )
2018
24
Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry. ( 29763710 )
2018
25
Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia. ( 29625343 )
2018
26
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia. ( 29607705 )
2018
27
Pitfalls in molecular diagnosis of Friedreich ataxia. ( 29530802 )
2018
28
Progress in the treatment of Friedreich ataxia. ( 29499876 )
2018
29
Correction: Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia (doi: 10.1242/dmm.030502). ( 29419392 )
2018
30
Serum uric acid in Friedreich Ataxia. ( 29409831 )
2018
31
Effect of diazoxide on Friedreich ataxia models. ( 29325032 )
2018
32
Peripheral nerve ultrasound in Friedreich ataxia. ( 29130498 )
2018
33
Personality and Neuropsychological Profiles in Friedreich Ataxia. ( 29086357 )
2018
34
Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment. ( 28980774 )
2018
35
Cerebral abnormalities in Friedreich ataxia: A review. ( 28823857 )
2018
36
Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms. ( 30544254 )
2018
37
A longitudinal study of the SF-36 version 2 in Friedreich ataxia. ( 27679455 )
2017
38
Voice in Friedreich Ataxia. ( 27501923 )
2017
39
Variable sensory nerve conduction parameters in late onset Friedreich ataxia. ( 27491039 )
2017
40
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes. ( 26754264 )
2017
41
Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients. ( 27814974 )
2017
42
Mitochondrial capacity, muscle endurance, and low energy in friedreich ataxia. ( 28000230 )
2017
43
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
44
Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia. ( 28082326 )
2017
45
Cardiac transplantation in Friedreich Ataxia: Extended follow-up. ( 28109580 )
2017
46
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia. ( 28228265 )
2017
47
Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia. ( 28229372 )
2017
48
Friedreich Ataxia: current status and future prospects. ( 28405347 )
2017
49
Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study. ( 28556242 )
2017
50
Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later. ( 28620720 )
2017

Variations for Friedreich Ataxia 1

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

76
# 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 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FXN NM_000144.4(FXN) indel Pathogenic rs886037630 GRCh38 Chromosome 9, 69053247: 69053252
2 FXN NM_000144.4(FXN) indel Pathogenic rs886037630 GRCh37 Chromosome 9, 71668163: 71668168
3 FXN NM_000144.4(FXN): c.157delC (p.Arg53Alafs) deletion Pathogenic rs141935559 GRCh37 Chromosome 9, 71650855: 71650855
4 FXN NM_000144.4(FXN): c.157delC (p.Arg53Alafs) deletion Pathogenic rs141935559 GRCh38 Chromosome 9, 69035939: 69035939
5 FXN NM_000144.4(FXN): c.517T> G (p.Trp173Gly) single nucleotide variant Likely pathogenic rs56214919 GRCh38 Chromosome 9, 69072646: 69072646
6 FXN NM_000144.4(FXN): c.517T> G (p.Trp173Gly) single nucleotide variant Likely pathogenic rs56214919 GRCh37 Chromosome 9, 71687562: 71687562
7 FXN NM_000144.4(FXN): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs104894108 GRCh38 Chromosome 9, 69035785: 69035785
8 FXN NM_000144.4(FXN): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs104894108 GRCh37 Chromosome 9, 71650701: 71650701
9 FXN NM_000144.4(FXN): c.389G> T (p.Gly130Val) single nucleotide variant Pathogenic rs104894107 GRCh38 Chromosome 9, 69064942: 69064942
10 FXN NM_000144.4(FXN): c.389G> T (p.Gly130Val) single nucleotide variant Pathogenic rs104894107 GRCh37 Chromosome 9, 71679858: 71679858
11 FXN NM_000144.4(FXN): c.460A> T (p.Ile154Phe) single nucleotide variant Pathogenic rs104894106 GRCh38 Chromosome 9, 69065013: 69065013
12 FXN NM_000144.4(FXN): c.460A> T (p.Ile154Phe) single nucleotide variant Pathogenic rs104894106 GRCh37 Chromosome 9, 71679929: 71679929
13 FXN NM_000144.4(FXN): c.385-2A> G single nucleotide variant Pathogenic rs140987490 GRCh38 Chromosome 9, 69064936: 69064936
14 FXN NM_000144.4(FXN): c.385-2A> G single nucleotide variant Pathogenic rs140987490 GRCh37 Chromosome 9, 71679852: 71679852
15 FXN NM_000144.4(FXN): c.317T> G (p.Leu106Ter) single nucleotide variant Pathogenic rs104894105 GRCh38 Chromosome 9, 69053193: 69053193
16 FXN NM_000144.4(FXN): c.317T> G (p.Leu106Ter) single nucleotide variant Pathogenic rs104894105 GRCh37 Chromosome 9, 71668109: 71668109
17 FXN NG_008845.2: g.6725GAA[(200_900)] NT expansion Pathogenic GRCh38 Chromosome 9, 69037287: 69037304
18 FXN NG_008845.2: g.6725GAA[(200_900)] NT expansion Pathogenic GRCh37 Chromosome 9, 71652203: 71652220
19 FXN NM_000144.4(FXN): c.54A> G (p.Pro18=) single nucleotide variant Benign rs2481598 GRCh38 Chromosome 9, 69035836: 69035836
20 FXN NM_000144.4(FXN): c.54A> G (p.Pro18=) single nucleotide variant Benign rs2481598 GRCh37 Chromosome 9, 71650752: 71650752
21 FXN NM_000144.4(FXN): c.438C> G (p.Asn146Lys) single nucleotide variant Pathogenic rs146818694 GRCh38 Chromosome 9, 69064991: 69064991
22 FXN NM_000144.4(FXN): c.438C> G (p.Asn146Lys) single nucleotide variant Pathogenic rs146818694 GRCh37 Chromosome 9, 71679907: 71679907

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 ATXN3 ATXN1
4 cytoplasm GO:0005737 10.07 ACO1 APTX ATXN1 ATXN2 ATXN3 CACNA1A

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

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

# Name GO ID Score Top Affiliating Genes
1 poly(U) RNA binding GO:0008266 9.4 ATXN1 FMR1
2 2 iron, 2 sulfur cluster binding GO:0051537 9.37 FXN ISCU
3 ferric iron binding GO:0008199 9.32 FTMT FXN
4 ferroxidase activity GO:0004322 9.26 FTMT FXN
5 poly(G) binding GO:0034046 9.16 ATXN1 FMR1
6 iron-sulfur cluster binding GO:0051536 9.13 ACO1 ISCU NFS1
7 ferrous iron binding GO:0008198 8.8 FTMT FXN ISCU

Sources for Friedreich Ataxia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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50 NCI
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55 NINDS
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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