FRDA
MCID: FRD012
MIFTS: 67

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 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. 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. Affiliated tissues include heart, eye 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, or FDRA, is an autosomal recessive inherited disease that causes progressive... 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 610)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.2 APTX SETX TTPA
2 spastic ataxia, charlevoix-saguenay type 31.9 APTX FXN SETX TTPA
3 vitamin e, familial isolated deficiency of 31.9 APTX FXN SETX TTPA
4 anemia, sideroblastic, and spinocerebellar ataxia 31.7 ABCB7 ACO1 FXN TTPA
5 restless legs syndrome 29.8 ACO1 ATXN3 CACNA1A FTMT TFRC
6 hereditary ataxia 29.2 APTX ATXN1 ATXN2 ATXN3 CACNA1A FMR1
7 friedreich ataxia and congenital glaucoma 12.3
8 friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 12.2
9 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined 12.2
10 fanconi anemia, complementation group a 12.1
11 autoimmune lymphoproliferative syndrome 11.9
12 fetal alcohol syndrome 11.9
13 fetal alcohol spectrum disorder 11.5
14 alcohol-related birth defect 11.4
15 friedreich ataxia 2 11.2
16 harding ataxia 11.2
17 ataxia with vitamin e deficiency 11.2
18 scoliosis, isolated 1 11.1
19 mitochondrial dna depletion syndrome 7 11.1
20 mohr-tranebjaerg syndrome 11.1
21 auditory neuropathy, autosomal dominant, 1 11.1
22 fanconi anemia, complementation group d2 11.1
23 fanconi anemia, complementation group b 11.1
24 fanconi anemia, complementation group f 11.1
25 fanconi anemia, complementation group d1 11.1
26 fanconi anemia, complementation group i 11.1
27 fanconi anemia, complementation group j 11.1
28 fanconi anemia, complementation group n 11.1
29 fanconi anemia, complementation group o 11.1
30 fanconi anemia, complementation group g 11.1
31 fanconi anemia, complementation group l 11.1
32 fundus albipunctatus 11.0
33 dianzani autoimmune lymphoproliferative disease 11.0
34 otodental dysplasia 10.9
35 fanconi anemia, complementation group c 10.9
36 fanconi anemia, complementation group e 10.9
37 caspase 8 deficiency 10.9
38 fanconi anemia, complementation group p 10.9
39 fanconi anemia, complementation group q 10.9
40 ataxia and polyneuropathy, adult-onset 10.7
41 colorectal adenoma 10.5
42 hepatitis 10.4
43 leukemia 10.4
44 lymphoma 10.4
45 lymphoproliferative syndrome 10.4
46 melanoma 10.3
47 squamous cell carcinoma 10.3
48 hepatocellular carcinoma 10.3
49 lung cancer 10.3
50 glioma 10.3

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 47)
# 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 abnormality of visual evoked potentials 32 HP:0000649
34 hypertrophic cardiomyopathy 32 HP:0001639
35 sensory neuropathy 32 HP:0000763
36 congestive heart failure 32 HP:0001635
37 abnormality of saccadic eye movements 59 Frequent (79-30%)
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 abnormal saccadic eye movements 32 frequent (33%) HP:0000570
47 decreased pyruvate carboxylase activity 32 HP:0003209

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:

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

MGI Mouse Phenotypes related to Friedreich Ataxia 1:

46
# 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

Search Clinical Trials , 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, Eye, Brain, Spinal Cord, Cerebellum, Testes, Liver

Publications for Friedreich Ataxia 1

Articles related to Friedreich Ataxia 1:

(show top 50) (show all 524)
# Title Authors Year
1
Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment. ( 28980774 )
2018
2
Personality and Neuropsychological Profiles in Friedreich Ataxia. ( 29086357 )
2018
3
Peripheral nerve ultrasound in Friedreich ataxia. ( 29130498 )
2018
4
Effect of diazoxide on Friedreich ataxia models. ( 29325032 )
2018
5
Serum uric acid in Friedreich Ataxia. ( 29409831 )
2018
6
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
7
Progress in the treatment of Friedreich ataxia. ( 29499876 )
2018
8
Pitfalls in molecular diagnosis of Friedreich ataxia. ( 29530802 )
2018
9
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia. ( 29607705 )
2018
10
Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia. ( 29625343 )
2018
11
Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry. ( 29763710 )
2018
12
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia. ( 29853274 )
2018
13
Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil. ( 29938355 )
2018
14
Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study. ( 29945881 )
2018
15
Longitudinal analysis of contrast acuity in Friedreich ataxia. ( 30065952 )
2018
16
Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). ( 30097477 )
2018
17
Child Neurology: Friedreich ataxia with upper motor neuron findings: A case study. ( 30150266 )
2018
18
Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag. ( 30195758 )
2018
19
Sudomotor dysfunction is frequent and correlates with disability in Friedreich ataxia. ( 30227349 )
2018
20
Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon? ( 30235822 )
2018
21
Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises. ( 30286776 )
2018
22
Depressive symptoms in Friedreich ataxia. ( 30487906 )
2018
23
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare. ( 30519163 )
2018
24
Correction of half the cardiomyocytes fully rescue Friedreich Ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms. ( 30544254 )
2018
25
Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures. ( 30552117 )
2018
26
Cardiac transplantation in Friedreich Ataxia: Extended follow-up. ( 28109580 )
2017
27
Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients. ( 27814974 )
2017
28
How does performance of the Friedreich Ataxia Functional Composite compare to rating scales? ( 28695363 )
2017
29
Friedreich Ataxia: current status and future prospects. ( 28405347 )
2017
30
E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia. ( 28228265 )
2017
31
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
32
Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia. ( 28789479 )
2017
33
Dysphagia in Friedreich Ataxia. ( 28474131 )
2017
34
Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140A years later. ( 28620720 )
2017
35
Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia. ( 28852135 )
2017
36
Pharmacological therapeutics in Friedreich ataxia: the present state. ( 28724340 )
2017
37
Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study. ( 28556242 )
2017
38
Impact of diabetes in the Friedreich ataxia clinical outcome measures study. ( 28904984 )
2017
39
Selected missense mutations impair frataxin processing in Friedreich ataxia. ( 28812047 )
2017
40
Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia. ( 28082326 )
2017
41
Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia. ( 28229372 )
2017
42
Cerebral abnormalities in Friedreich ataxia: A review. ( 28823857 )
2017
43
Mechanisms of unexpected death and autopsy findings in Friedreich ataxia. ( 28803513 )
2017
44
Friedreich Ataxia: Developmental Failure of the Dorsal Root Entry Zone. ( 29044418 )
2017
45
Erratum: Selected missense mutations impair frataxin processing in Friedreich ataxia. ( 29046887 )
2017
46
Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia. ( 29125827 )
2017
47
Friedreich Ataxia: Clinical Feature and Electrophysiological Symptoms. ( 29204047 )
2017
48
Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia. ( 29259026 )
2017
49
A longitudinal study of the SF-36 version 2 in Friedreich ataxia. ( 27679455 )
2016
50
Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia. ( 27106929 )
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 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FXN NM_000144.4(FXN): c.317T> G (p.Leu106Ter) single nucleotide variant Pathogenic rs104894105 GRCh37 Chromosome 9, 71668109: 71668109
2 FXN NM_000144.4(FXN): c.317T> G (p.Leu106Ter) single nucleotide variant Pathogenic rs104894105 GRCh38 Chromosome 9, 69053193: 69053193
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.385-2A> G single nucleotide variant Pathogenic rs140987490 GRCh38 Chromosome 9, 69064936: 69064936
5 FXN NM_000144.4(FXN): c.460A> T (p.Ile154Phe) single nucleotide variant Pathogenic rs104894106 GRCh37 Chromosome 9, 71679929: 71679929
6 FXN NM_000144.4(FXN): c.460A> T (p.Ile154Phe) single nucleotide variant Pathogenic rs104894106 GRCh38 Chromosome 9, 69065013: 69065013
7 FXN NM_000144.4(FXN): c.389G> T (p.Gly130Val) single nucleotide variant Pathogenic rs104894107 GRCh37 Chromosome 9, 71679858: 71679858
8 FXN NM_000144.4(FXN): c.389G> T (p.Gly130Val) single nucleotide variant Pathogenic rs104894107 GRCh38 Chromosome 9, 69064942: 69064942
9 FXN NM_000144.4(FXN): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs104894108 GRCh37 Chromosome 9, 71650701: 71650701
10 FXN NM_000144.4(FXN): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs104894108 GRCh38 Chromosome 9, 69035785: 69035785
11 FXN NM_000144.4(FXN): c.517T> G (p.Trp173Gly) single nucleotide variant Likely pathogenic rs56214919 GRCh37 Chromosome 9, 71687562: 71687562
12 FXN NM_000144.4(FXN): c.517T> G (p.Trp173Gly) single nucleotide variant Likely pathogenic rs56214919 GRCh38 Chromosome 9, 69072646: 69072646
13 FXN NM_000144.4(FXN): c.157delC (p.Arg53Alafs) deletion Pathogenic rs886037611 GRCh38 Chromosome 9, 69035939: 69035939
14 FXN NM_000144.4(FXN): c.157delC (p.Arg53Alafs) deletion Pathogenic rs886037611 GRCh37 Chromosome 9, 71650855: 71650855
15 FXN NM_000144.4(FXN) indel Pathogenic rs886037630 GRCh37 Chromosome 9, 71668163: 71668168
16 FXN NM_000144.4(FXN) indel Pathogenic rs886037630 GRCh38 Chromosome 9, 69053247: 69053252
17 FXN NM_000144.4(FXN): c.54A> G (p.Pro18=) single nucleotide variant Benign rs2481598 GRCh37 Chromosome 9, 71650752: 71650752
18 FXN NM_000144.4(FXN): c.54A> G (p.Pro18=) single nucleotide variant Benign rs2481598 GRCh38 Chromosome 9, 69035836: 69035836
19 FXN NM_000144.4(FXN): c.438C> G (p.Asn146Lys) single nucleotide variant Pathogenic rs146818694 GRCh37 Chromosome 9, 71679907: 71679907
20 FXN NM_000144.4(FXN): c.438C> G (p.Asn146Lys) single nucleotide variant Pathogenic rs146818694 GRCh38 Chromosome 9, 69064991: 69064991
21 FXN NG_008845.2: g.6725GAA[(200_900)] NT expansion Pathogenic rs193922938 GRCh37 Chromosome 9, 71652203: 71652220
22 FXN NG_008845.2: g.6725GAA[(200_900)] NT expansion Pathogenic rs193922938 GRCh38 Chromosome 9, 69037287: 69037304

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
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 ATXN2 FMR1
2 iron-sulfur cluster assembly GO:0016226 9.4 FXN ISCU
3 iron incorporation into metallo-sulfur cluster GO:0018283 9.37 FXN NFS1
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 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 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 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
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54 NINDS
55 Novoseek
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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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