FRDA
MCID: FRD001
MIFTS: 62

Friedreich Ataxia (FRDA) malady

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

Aliases & Classifications for Friedreich Ataxia

Aliases & Descriptions for Friedreich Ataxia:

Name: Friedreich Ataxia 54 12 23 50 24 25 56 66 52 42 14 69
Friedreich's Ataxia 12 71 50 51 29 41
Frda 23 50 24 25 56 66
Friedreich Ataxia with Retained Reflexes 54 29 13
Hereditary Spinal Ataxia 71 50 69
Friedreich Ataxia 1 12 29 69
Fa 25 56 66
Spinocerebellar Ataxia, Friedreich 50
Friedreich Spinocerebellar Ataxia 25
Hereditary Spinal Sclerosis 50
Friedreich's Tabes 12
Friedrich's Ataxia 25
Frda1 52

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
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:

OMIM 54 229300
Disease Ontology 12 DOID:12705
ICD9CM 35 334.0
MeSH 42 D005621
NCIt 47 C84718
SNOMED-CT 64 10394003 155011003
Orphanet 56 ORPHA95
MESH via Orphanet 43 D005621
UMLS via Orphanet 70 C0016719
ICD10 via Orphanet 34 G11.1
UMLS 69 C0016719

Summaries for Friedreich Ataxia

NINDS : 51 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.  Doctors diagnose Friedreich's ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Several tests may be performed, including electromyogram (EMG, which measures the electrical activity of cells) and genetic testing.

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 muscle weakness, dystonia and gait ataxia. An important gene associated with Friedreich Ataxia is FXN (Frataxin), and among its related pathways/superpathways are Ferroptosis and Iron metabolism in placenta. The drugs Bupropion and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and testes, and related phenotype is Decreased shRNA abundance (Z-score < -2).

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 : 50 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 : 54 Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb... (229300) more...

MedlinePlus : 41 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 : 66 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: NBK1281

Related Diseases for Friedreich Ataxia

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)
id Related Disease Score Top Affiliating Genes
1 friedreich ataxia 2 12.3
2 fas-related autoimmune lymphoproliferative syndrome 11.8
3 fanconi anemia, complementation group a 11.8
4 autoimmune lymphoproliferative syndrome 11.6
5 fetal alcohol syndrome 11.1
6 harding ataxia 11.1
7 ataxia 11.1
8 fetal alcohol spectrum disorder 11.0
9 ataxia with vitamin e deficiency 10.9
10 auditory neuropathy, autosomal dominant, 1 10.9
11 fanconi anemia, complementation group i 10.8
12 fanconi anemia, complementation group n 10.8
13 fanconi anemia, complementation group l 10.8
14 fanconi anemia, complementation group d2 10.8
15 fanconi anemia, complementation group j 10.8
16 fanconi anemia, complementation group o 10.8
17 fanconi anemia, complementation group b 10.8
18 fanconi anemia, complementation group g 10.8
19 fanconi anemia, complementation group f 10.8
20 fanconi anemia, complementation group d1 10.8
21 dianzani autoimmune lymphoproliferative disease 10.8
22 fundus albipunctatus 10.8
23 fanconi anemia, complementation group p 10.7
24 fanconi anemia, complementation group q 10.7
25 fanconi anemia, complementation group e 10.7
26 autoimmune lymphoproliferative syndrome, type iib 10.7
27 fanconi anemia, complementation group c 10.7
28 cardiomyopathy 10.3
29 lymphoma 10.3
30 leukemia 10.3
31 colorectal adenoma 10.3
32 neuropathy 10.1
33 nonsyndromic deafness 10.1 ACO1 FXN TTPA
34 louping ill 10.1 ACO1 TFRC
35 holoprosencephaly 10.1 CACNA1A FXN
36 neuronitis 10.0
37 synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 10.0 ACO1 ISCU
38 nasu-hakola disease 10.0 ACO1 FXN TFRC
39 cerebritis 9.9
40 hemochromatosis 9.9
41 dysphagia 9.9
42 fragile x syndrome 9.9
43 tremor 9.9
44 kaolin pneumoconiosis 9.8 ISCU TFRC
45 sialuria 9.8 APTX SETX TTPA
46 tay-sachs disease 9.7
47 hepatitis 9.7
48 epilepsy 9.7
49 auditory neuropathy 9.7
50 hereditary ataxia 9.7

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 & Phenotypes for Friedreich Ataxia

Symptoms by clinical synopsis from OMIM:

229300

Clinical features from OMIM:

229300

Human phenotypes related to Friedreich Ataxia:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 56 32 Frequent (79-30%) HP:0001324
2 dystonia 56 32 Occasional (29-5%) HP:0001332
3 gait ataxia 56 32 Obligate (100%) HP:0002066
4 nystagmus 56 32 Frequent (79-30%) HP:0000639
5 diabetes mellitus 56 32 Occasional (29-5%) HP:0000819
6 spasticity 56 32 Occasional (29-5%) HP:0001257
7 dysarthria 56 32 Very frequent (99-80%) HP:0001260
8 dysphagia 56 32 Occasional (29-5%) HP:0002015
9 chorea 56 32 Occasional (29-5%) HP:0002072
10 scoliosis 56 32 Frequent (79-30%) HP:0002650
11 hearing impairment 56 32 Occasional (29-5%) HP:0000365
12 optic atrophy 56 32 Frequent (79-30%) HP:0000648
13 limb ataxia 56 32 Very frequent (99-80%) HP:0002070
14 gait imbalance 56 32 Very frequent (99-80%) HP:0002141
15 babinski sign 56 32 Very frequent (99-80%) HP:0003487
16 hand muscle atrophy 56 32 Very frequent (99-80%) HP:0009130
17 impaired proprioception 56 32 Very frequent (99-80%) HP:0010831
18 dysmetria 56 32 Frequent (79-30%) HP:0001310
19 cardiomyopathy 56 32 Frequent (79-30%) HP:0001638
20 pes cavus 56 32 Frequent (79-30%) HP:0001761
21 intention tremor 56 32 Frequent (79-30%) HP:0002080
22 areflexia of lower limbs 56 32 Frequent (79-30%) HP:0002522
23 falls 56 32 Frequent (79-30%) HP:0002527
24 urinary bladder sphincter dysfunction 56 32 Frequent (79-30%) HP:0002839
25 sensory axonal neuropathy 56 32 Frequent (79-30%) HP:0003390
26 poor fine motor coordination 56 32 Frequent (79-30%) HP:0007010
27 cervical spinal cord atrophy 56 32 Frequent (79-30%) HP:0010873
28 impaired visually enhanced vestibulo-ocular reflex 56 32 Frequent (79-30%) HP:0030183
29 inability to walk 56 32 Occasional (29-5%) HP:0002540
30 incomprehensible speech 56 32 Occasional (29-5%) HP:0002546
31 decreased motor nerve conduction velocity 56 32 Occasional (29-5%) HP:0003431
32 reduced visual acuity 56 32 Occasional (29-5%) HP:0007663
33 visual impairment 32 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 56 Frequent (79-30%)
39 visual field defect 32 HP:0001123
40 abnormal ekg 32 HP:0003115
41 abnormal echocardiogram 32 HP:0003116
42 impaired vibratory sensation 32 HP:0002495
43 decreased sensory nerve conduction velocity 32 HP:0003448
44 decreased amplitude of sensory action potentials 32 HP:0007078
45 decreased pyruvate carboxylase activity 32 HP:0003209
46 mitochondrial malic enzyme reduced 32 HP:0003232

UMLS symptoms related to Friedreich Ataxia:


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

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

26
id 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 TTPA ACO1 FXN
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 ISCU TTPA ACO1 FXN

Drugs & Therapeutics for Friedreich Ataxia

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

(show top 50) (show all 107)
id 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 Phase 4 50-67-9 5202
21 Serotonin Agents Phase 4
22 Serotonin Uptake Inhibitors Phase 4
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
30 Trace Elements Phase 3,Phase 2,Phase 1
31 Chelating Agents Phase 2, Phase 3,Phase 1
32 Iron Chelating Agents Phase 2, Phase 3,Phase 1
33 Antioxidants Phase 3,Phase 2,Phase 1
34 Protective Agents Phase 3,Phase 2,Phase 1,Early Phase 1
35 Ubiquinone Phase 3,Phase 2,Phase 1
36 Anti-Infective Agents Phase 3,Phase 2
37 Antiviral Agents Phase 3,Phase 2
38 Interferon-gamma Phase 3,Phase 2
39 interferons Phase 3,Phase 2
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, Vet_approved Phase 1, Phase 2 93-14-1 3516
48
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
49
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
50
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938

Interventional clinical trials:

(show top 50) (show all 51)
id Name Status NCT ID Phase
1 An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich Ataxia Completed NCT01716221 Phase 4
2 Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Patients Completed NCT00697073 Phase 3
3 Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's Ataxia Completed NCT02415127 Phase 3
4 Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia Study Completed NCT02593773 Phase 3
5 Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept Completed NCT00811681 Phase 3
6 Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia Completed NCT00537680 Phase 3
7 A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) Patients Completed NCT00905268 Phase 3
8 Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI) Completed NCT01303406 Phase 3
9 STEADFAST Long-Term Safety Extension Completed NCT02797080 Phase 3
10 Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension) Completed NCT00993967 Phase 3
11 Efficacy of Riluzole in Hereditary Cerebellar Ataxia Completed NCT01104649 Phase 2, Phase 3
12 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3
13 Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's Ataxia Terminated NCT00803868 Phase 2, Phase 3
14 A Pilot Clinical Trial With the Iron Chelator Deferiprone in Parkinson's Disease Unknown status NCT01539837 Phase 2
15 Interferon Gamma-1b in Friedreich Ataxia (FRDA) Completed NCT01965327 Phase 2
16 A Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00530127 Phase 1, Phase 2
17 EPI-743 in Friedreich's Ataxia Point Mutations Completed NCT01962363 Phase 2
18 Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's Ataxia Completed NCT01016366 Phase 2
19 A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's Ataxia Completed NCT00897221 Phase 2
20 A Study of Resveratrol as Treatment for Friedreich Ataxia Completed NCT01339884 Phase 1, Phase 2
21 Idebenone to Treat Friedreich's Ataxia Completed NCT00229632 Phase 2
22 Efficacy Study of Epoetin Alfa in Friedreich Ataxia Completed NCT01493973 Phase 2
23 A First in Human Study of RT001 in Patients With Friedreich's Ataxia Completed NCT02445794 Phase 1, Phase 2
24 Efficacy of Epoetin Alfa in Patients With Friedreich's Ataxia Completed NCT00631202 Phase 2
25 Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia Completed NCT01728064 Phase 2
26 Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia Completed NCT00824512 Phase 2
27 Iron-Chelating Therapy and Friedreich Ataxia Completed NCT00224640 Phase 1, Phase 2
28 Safety and Efficacy Study of A0001 in Subjects With Friedreich's Ataxia Completed NCT01035671 Phase 2
29 A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA Patients Completed NCT02035020 Phase 2
30 RTA 408 Capsules in Patients With Friedreich's Ataxia - MOXIe Recruiting NCT02255435 Phase 2
31 (+) Epicatechin to Treat Friedreich's Ataxia Recruiting NCT02660112 Phase 2
32 Effect of Nicotinamide in Friedreich's Ataxia Active, not recruiting NCT01589809 Phase 2
33 EPI-743 for Mitochondrial Respiratory Chain Diseases Active, not recruiting NCT01370447 Phase 2
34 Phase 1 Trial of Idebenone to Treat Patients With Friedreich's Ataxia Completed NCT00078481 Phase 1
35 Safety and Pharmacology Study of VP 20629 in Adults With Friedreich's Ataxia Completed NCT01898884 Phase 1
36 Safety Study of Idebenone to Treat Friedreich's Ataxia Completed NCT00015808 Phase 1
37 Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling Completed NCT00056186
38 Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND) Completed NCT02179333
39 Methylprednisolone Treatment of Friedreich Ataxia Recruiting NCT02424435 Early Phase 1
40 Rosuvastatin (Crestor) in Friedreich Ataxia Recruiting NCT02705547 Early Phase 1
41 Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) Recruiting NCT02069509
42 FA Clinical Outcome Measures Recruiting NCT03090789
43 An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia Recruiting NCT01921868
44 Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA) Recruiting NCT02316314
45 A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study) Recruiting NCT02840669
46 Biomarkers in Friedreich's Ataxia Recruiting NCT02497534
47 Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer Recruiting NCT01751503
48 Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia Recruiting NCT03120013
49 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
50 Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia Enrolling by invitation NCT01776164

Search NIH Clinical Center for Friedreich Ataxia

Cochrane evidence based reviews: friedreich ataxia

Genetic Tests for Friedreich Ataxia

Genetic tests related to Friedreich Ataxia:

id Genetic test Affiliating Genes
1 Friedreich Ataxia 1 29
2 Friedreich's Ataxia 29
3 Friedreich Ataxia with Retained Reflexes 29
4 Friedreich Ataxia 24 FXN

Anatomical Context for Friedreich Ataxia

MalaCards organs/tissues related to Friedreich Ataxia:

39
Heart, Spinal Cord, Testes, Eye, Brain, Skeletal Muscle, Liver

Publications for Friedreich Ataxia

Articles related to Friedreich Ataxia:

(show top 50) (show all 464)
id Title Authors Year
1
Dysphagia in Friedreich Ataxia. ( 28474131 )
2017
2
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
3
Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients. ( 27814974 )
2017
4
Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia. ( 28082326 )
2017
5
Friedreich Ataxia: current status and future prospects. ( 28405347 )
2017
6
Cardiac transplantation in Friedreich Ataxia: Extended follow-up. ( 28109580 )
2017
7
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia. ( 28228265 )
2017
8
Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia. ( 28229372 )
2017
9
Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia. ( 27668106 )
2016
10
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia. ( 27488863 )
2016
11
Pharmacological treatments for Friedreich ataxia. ( 27572719 )
2016
12
Cerebral and cerebellar greyA matter atrophy in Friedreich ataxia: the IMAGE-FRDA study. ( 27522354 )
2016
13
Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling. ( 26906906 )
2016
14
Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia. ( 26879839 )
2016
15
Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy. ( 27019046 )
2016
16
Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia. ( 27079523 )
2016
17
Vestibulo-ocular reflex dynamics withA head-impulses discriminates spinocerebellar ataxias types 1, 2 and 3 andA Friedreich ataxia. ( 27392837 )
2016
18
Mitochondrial capacity, muscle endurance & low energy in friedreich ataxia. ( 28000230 )
2016
19
Voice in Friedreich Ataxia. ( 27501923 )
2016
20
Abundance and Significance of Iron, Zinc, Copper, and Calcium in the Hearts of Patients With Friedreich Ataxia. ( 27189813 )
2016
21
Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study. ( 27010617 )
2016
22
Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. ( 26704351 )
2016
23
Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts. ( 27518705 )
2016
24
Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes. ( 27547137 )
2016
25
Effects of Genetic Severity on Glucose Homeostasis in Friedreich Ataxia. ( 27061687 )
2016
26
Clinical Experience With Deferiprone Treatment for Friedreich Ataxia. ( 27029487 )
2016
27
Dorsal root ganglia in Friedreich ataxia: satellite cell proliferation and inflammation. ( 27142428 )
2016
28
Variable sensory nerve conduction parameters in late onset Friedreich ataxia. ( 27491039 )
2016
29
Oxidative stress and altered lipid metabolism in Friedreich ataxia. ( 27296838 )
2016
30
Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency. ( 27071470 )
2016
31
Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor. ( 26896803 )
2016
32
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes. ( 26754264 )
2016
33
The Effect of Piracetam on Friedreich Ataxia. ( 27171570 )
2016
34
A longitudinal study of the SF-36 version 2 in Friedreich ataxia. ( 27679455 )
2016
35
Friedreich Ataxia and nephrotic syndrome: a series of two patients. ( 26755195 )
2016
36
Acquired Pulmonary Vein Isolation in a Patient with Friedreich Ataxia. ( 26920184 )
2016
37
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia. ( 27106929 )
2016
38
Friedreich ataxia induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor. ( 27594434 )
2016
39
Progression of Friedreich ataxia: quantitative characterization over 5 years. ( 27648458 )
2016
40
Idebenone in Friedreich ataxia and Leber's hereditary optic neuropathy: close mechanisms, similar therapy? ( 27095078 )
2016
41
A longitudinal study of the Friedreich Ataxia Impact Scale. ( 25840637 )
2015
42
Frataxin levels in peripheral tissue in Friedreich ataxia. ( 26339677 )
2015
43
Acoustic Analyses of Prolonged Vowels in Young Adults With Friedreich Ataxia. ( 26454768 )
2015
44
IFN-I^ for Friedreich ataxia: present evidence. ( 26634868 )
2015
45
Friedreich ataxia in Norway - an epidemiological, molecular and clinical study. ( 26338206 )
2015
46
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells. ( 25549872 )
2015
47
Identification of telomere dysfunction in Friedreich ataxia. ( 26059974 )
2015
48
Milestones in Friedreich ataxia: more than a century and still learning. ( 25662948 )
2015
49
MRI Texture Analysis Reveals Bulbar Abnormalities in Friedreich Ataxia. ( 26359147 )
2015
50
Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study. ( 26502936 )
2015

Variations for Friedreich Ataxia

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

66
id 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:

6
id 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.317T> G (p.Leu106Ter) single nucleotide variant Pathogenic rs104894105 GRCh37 Chromosome 9, 71668109: 71668109
3 FXN NM_000144.4(FXN): c.385-2A> G single nucleotide variant Pathogenic rs140987490 GRCh37 Chromosome 9, 71679852: 71679852
4 FXN NM_000144.4(FXN): c.460A> T (p.Ile154Phe) single nucleotide variant Pathogenic rs104894106 GRCh37 Chromosome 9, 71679929: 71679929
5 FXN NM_000144.4(FXN): c.389G> T (p.Gly130Val) single nucleotide variant Pathogenic rs104894107 GRCh37 Chromosome 9, 71679858: 71679858
6 FXN NM_000144.4(FXN): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs104894108 GRCh37 Chromosome 9, 71650701: 71650701
7 FXN NM_000144.4(FXN): c.517T> G (p.Trp173Gly) single nucleotide variant Likely pathogenic rs56214919 GRCh37 Chromosome 9, 71687562: 71687562
8 FXN NM_000144.4(FXN): c.157delC (p.Arg53Alafs) deletion Pathogenic rs886037611 GRCh38 Chromosome 9, 69035939: 69035939
9 FXN NM_000144.4(FXN) indel Pathogenic rs886037630 GRCh37 Chromosome 9, 71668163: 71668168

Expression for Friedreich Ataxia

Search GEO for disease gene expression data for Friedreich Ataxia.

Pathways for Friedreich Ataxia

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

id Super pathways Score Top Affiliating Genes
1 10.76 FTMT TFRC
2 10.03 ACO1 TFRC
3 9.75 FXN ISCU LYRM4

GO Terms for Friedreich Ataxia

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 ACO1 FTMT FXN ISCU LYRM4 MIPEP
2 mitochondrial matrix GO:0005759 9.02 FTMT FXN ISCU LYRM4 MIPEP

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

id Name GO ID Score Top Affiliating Genes
1 adult walking behavior GO:0007628 9.43 CACNA1A FXN
2 intestinal absorption GO:0050892 9.4 ACO1 TJP2
3 iron-sulfur cluster assembly GO:0016226 9.37 FXN ISCU
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 positive regulation of succinate dehydrogenase activity GO:1904231 9.16 FTMT FXN
7 small molecule metabolic process GO:0044281 9.13 FXN ISCU LYRM4
8 cellular iron ion homeostasis GO:0006879 9.02 ACO1 FTMT FXN ISCU TFRC

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

id Name GO ID Score Top Affiliating Genes
1 4 iron, 4 sulfur cluster binding GO:0051539 9.37 ACO1 ISCU
2 2 iron, 2 sulfur cluster binding GO:0051537 9.32 FXN ISCU
3 ferrous iron binding GO:0008198 9.26 FXN ISCU
4 ferric iron binding GO:0008199 9.16 FTMT FXN
5 iron-sulfur cluster binding GO:0051536 9.13 ACO1 FXN ISCU
6 ferroxidase activity GO:0004322 8.62 FTMT FXN

Sources for Friedreich Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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