FA
MCID: FRD001
MIFTS: 72

Friedreich Ataxia (FA) malady

Neuronal diseases, Eye diseases categories

Summaries for Friedreich Ataxia

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 46OMIM, 19GeneReviews, 32MalaCards
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NINDS:43 Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. 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 as early as 18 months or as late as 30 years of age. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in) may be early signs. Rapid, rhythmic, involuntary movements of the eyeball are common. Most 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 palpitations. Some individuals may develop diabetes.

MalaCards: Friedreich Ataxia, also known as friedreich's ataxia, is related to neuropathy and cerebellar ataxia. An important gene associated with Friedreich Ataxia is FXN (frataxin), and among its related pathways is Iron metabolism in placenta. The compounds fenton and protoporphyrin ix have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and eye, and related mouse phenotype nervous system.

Genetics Home Reference:21 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. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis).

NIH Rare Diseases:42 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 often have a form of heart disease called hypertrophic cardiomyopathy. some people 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: 1/23/2012

MedlinePlus:33 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

Description from OMIM:46 229300,601992

GeneReviews summary for friedreich

Aliases & Classifications for Friedreich Ataxia

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8Disease Ontology, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 27ICD9CM, 34MeSH, 56SNOMED-CT, 39NCIt, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
friedreich ataxia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

friedreich ataxia 8 19 42 21 46 10 44 48 60
friedreich's ataxia 8 63 42 20 22 43 33
frda 63 19 42 21 48
friedreich ataxia 1 8 22 60
hereditary spinal sclerosis 63 42
hereditary spinal ataxia 63 42
fa 21 48
spinocerebellar ataxia, friedreich 42
friedreich spinocerebellar ataxia 21
friedreich's tabes 8


External Ids:

Disease Ontology8 DOID:12705
ICD9CM27 334.0
MeSH34 D005621
NCIt39 C84718
SNOMED-CT56 10394003, 155011003
SNOMED-CT via Orphanet57 10394003
UMLS via Orphanet61 C0016719
MESH via Orphanet35 D005621
ICD10 via Orphanet26 G11.1

Related Diseases for Friedreich Ataxia

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17GeneCards, 18GeneDecks
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Diseases in the Friedreich Ataxia family:

Friedreich Ataxia 2

Diseases related to Friedreich Ataxia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 568)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy30.5SOD2
2cerebellar ataxia30.5APTX, ATXN2, ATXN3, TTPA, FXN
3alzheimer's disease30.4SOD2, TTPA, GSR
4multiple sclerosis30.3GSR, TFRC
5ataxia with vitamin e deficiency30.3APTX, TTPA, FXN
6parkinson's disease30.2FMR1, SOD2, ATXN2, FXN, ACO1, GSR
7restless legs syndrome30.1TFRC
8peripheral neuropathy30.1APTX
9spinocerebellar degeneration30.1ATXN3, ATXN2
10spinocerebellar ataxia30.1FMR1, ATXN2, ATXN8OS, ATXN3, TTPA, FXN
11myocardial infarction30.0GSR, ABCB7
12dementia30.0GSR, FMR1
13huntington's disease30.0ATXN3
14acute myocardial infarction29.9TFRC, ABCB7, GSR
15multiple system atrophy29.8ATXN3, FMR1
16deficiency anemia29.7SOD2, TFRC, ABCB7, GSR
17sideroblastic anemia29.5SOD2, TFRC, FTMT, ABCB7, FXN
18amyotrophic lateral sclerosis29.5GSR, ATXN2, TFRC, SOD2
19leukemia10.7
20thyroiditis10.6
21prostatitis10.6
22squamous cell carcinoma10.6
23melanoma10.6
24autoimmune lymphoproliferative syndrome10.6
25breast cancer10.6
26acute leukemia10.5
27adenocarcinoma10.5
28hepatocellular carcinoma10.5
29lung cancer10.5
30prostate cancer10.5
31lupus erythematosus10.5
32hepatitis c10.5
33systemic lupus erythematosus10.5
34colon cancer10.5
35esophagitis10.5
36myeloma10.5
37arthritis10.5
38pancreatitis10.5
39renal cell carcinoma10.5
40cervicitis10.4
41rheumatoid arthritis10.4
42osteosarcoma10.4
43friedreich ataxia congenital glaucoma10.4
44autoimmune thyroiditis10.4
45myeloid leukemia10.4
46obesity10.4
47silicosis10.4
48hepatitis b10.4
49fetal alcohol syndrome10.4
50t-cell leukemia10.4

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



Diseases related to friedreich ataxia

Clinical Features for Friedreich Ataxia

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46OMIM
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Clinical features from OMIM:

229300,601992

Clinical synopsis from OMIM:

229300

Drugs & Therapeutics for Friedreich Ataxia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Friedreich Ataxia

Drug clinical trials:

Search ClinicalTrials for Friedreich Ataxia

Search NIH Clinical Center for Friedreich Ataxia

Search CenterWatch for Friedreich Ataxia

Genetic Tests for Friedreich Ataxia

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20GeneTests, 22GTR
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Genetic tests related to Friedreich Ataxia:

id Genetic test Affiliating Genes
1 Friedreich Ataxia20 FXN
2 Friedreich Ataxia 122
3 Friedreich's Ataxia22

Anatomical Context for Friedreich Ataxia

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32MalaCards
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MalaCards organs/tissues related to Friedreich Ataxia:

32
Heart, Spinal cord, Eye, Testes, Brain, Skeletal muscle, Cerebellum, Whole blood, Colon, Liver

Animal Models for Friedreich Ataxia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Friedreich Ataxia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.0FXN, TTPA, ABCB7, ATXN3, ATXN8OS, ATXN2

Publications for Friedreich Ataxia

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50PubMed
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Articles related to Friedreich Ataxia:

(show top 50)    (show all 376)
idTitleAuthorsYear
1
Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia. (24411698)
2014
2
Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length. (23925595)
2013
3
Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic protocol. (23538127)
2013
4
Analysis of the visual system in Friedreich ataxia. (23775342)
2013
5
A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression With TALE Proteins. (24002729)
2013
6
Erythropoietin in Friedreich ataxia. (23859343)
2013
7
Clinical neurogenetics: friedreich ataxia. (24176426)
2013
8
Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia. (23052598)
2012
9
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model. (22447512)
2012
10
Unanswered questions in Friedreich ataxia. (22832776)
2012
11
Central role and mechanisms of I^-cell dysfunction and death in friedreich ataxia-associated diabetes. (23280845)
2012
12
Clinical features of Friedreich ataxia. (22752493)
2012
13
Ophthalmic features of Friedreich ataxia. (22094302)
2012
14
Movement disorders: Genetic and epigenetic factors determine the clinical course in Friedreich ataxia. (22231194)
2012
15
Cross-sectional analysis of electrocardiograms in a large heterogeneous cohort of Friedreich ataxia subjects. (22752487)
2012
16
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function. (21147271)
2011
17
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. (21771600)
2011
18
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype. (21830088)
2011
19
Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). (21392622)
2011
20
Evaluation of neuropsychological functions in patients with Friedreich ataxia before and after cognitive therapy. (20923605)
2010
21
Exercise capacity and idebenone intervention in children and adolescents with Friedreich ataxia. (20599042)
2010
22
A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia. (20697044)
2010
23
Exploration of transitional life events in individuals with Friedreich ataxia: implications for genetic counseling. (20979606)
2010
24
Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly. (20889968)
2010
25
Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction. (19957189)
2010
26
Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia. (18815198)
2009
27
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. (19629184)
2009
28
The pathogenesis of Friedreich ataxia and the structure and function of frataxin. (19283345)
2009
29
Clinical experience with high-dose idebenone in Friedreich ataxia. (19283350)
2009
30
Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry. (18226551)
2008
31
Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features. (18671287)
2008
32
Presentation and progression of Friedreich ataxia and implications for physical therapist examination. (17911272)
2007
33
Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients. (17075779)
2006
34
Friedreich ataxia: the oxidative stress paradox. (15615771)
2005
35
The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. (12189170)
2002
36
A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy. (12417527)
2002
37
The molecular basis of Friedreich ataxia. (12611437)
2002
38
Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia. (10930361)
2000
39
Friedreich ataxia: an overview. (10633128)
2000
40
The molecular basis of Friedreich ataxia. (11143498)
2000
41
Atypical friedreich ataxia with a very late onset and an unusual limited GAA repeat (10987913)
2000
42
Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. (10681084)
2000
43
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. (9153531)
1997
44
Deciphering the cause of Friedreich ataxia. (9384553)
1997
45
A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus. (8641704)
1996
46
Pregnancy associated with Friedreich ataxia. (2216270)
1990
47
Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. (2929596)
1989
48
Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia. (6820014)
1982
49
Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration. (7191495)
1980
50
Friedreich ataxia. II. Normal kinetics of lipoamide dehydrogenase. (221857)
1979

Genetic Variations for Friedreich Ataxia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Friedreich Ataxia:

62
id Symbol AA change Variation ID SNP ID
1FXNp.Asp122TyrVAR_002428
2FXNp.Gly130ValVAR_002429
3FXNp.Ile154PheVAR_002430
4FXNp.Trp155ArgVAR_002431
5FXNp.Arg165CysVAR_008139
6FXNp.Leu182PheVAR_008140
7FXNp.Leu106SerVAR_016065
8FXNp.Leu198ArgVAR_016066

Expression for genes affiliated with Friedreich Ataxia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Friedreich Ataxia

Search GEO for disease gene expression data for Friedreich Ataxia.

Pathways for genes affiliated with Friedreich Ataxia

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37NCBI BioSystems Database
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Pathways related to Friedreich Ataxia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3ACO1, TFRC

Compounds for genes affiliated with Friedreich Ataxia

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Friedreich Ataxia according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1fenton4410.7GSR, FXN, SOD2
2protoporphyrin ix44 11 2412.7FXN, ABCB7, TFRC
3ferric ammonium citrate4410.7TFRC, FTMT, FXN, ACO1
4tocopherol4410.7GSR, TTPA, SOD2
5deferoxamine44 1111.6TFRC, FTMT, FXN, ACO1
6sulfur4410.6ACO1, FXN, FTMT
7propyl gallate4410.6GSR, SOD2
8hypoxanthine44 11 2412.6TFRC, SOD2, FMR1
9vitamin-e4410.6APTX, ABCB7, TTPA, FXN, GSR
10alpha tocopherol4410.6SOD2, APTX, TTPA, FXN, GSR
11iron-sulfur4410.6ACO1, FXN, ABCB7, FTMT, MIPEP
12malate4410.6MIPEP, ME2, SOD2
13menadione44 11 2412.6SOD2, TFRC, GSR
14folate4410.6FMR1, SOD2, TFRC, GSR
15glutathion4410.6SOD2, GSR
16polyacrylamide4410.5SOD2, ATXN2, ATXN3, ABCB7, ACO1
17betacarotene4410.5SOD2, TFRC, GSR
18n acetylcysteine4410.5SOD2, TFRC, FXN, ACO1, GSR
193-amino-1,2,4-triazole4410.5GSR, SOD2
20manganese44 2411.5SOD2, TFRC, ME2, MIPEP, ACO1
21glutamine4410.5SOD2, TFRC, ATXN2, ATXN3, TTPA
22peroxynitrite4410.5GSR, ACO1, SOD2
23iron44 2411.5SOD2, TFRC, MIPEP, FTMT, ABCB7, FXN
24creatinine4410.4GSR, ABCB7, TFRC, SOD2, FMR1
25oxygen44 2411.4SOD2, FTMT, ABCB7, TTPA, FXN, ACO1
26atp44 2811.4SOD2, ME2, TJP2, FTMT, ABCB7, TTPA
27n-ethylmaleimide44 1111.4GSR, ACO1, TFRC
28dehydroascorbic acid44 1111.4GSR, SOD2
29sodium nitroprusside4410.3ACO1, TFRC, SOD2
30cysteine4410.3SOD2, TFRC, ATXN3, FXN, ACO1, GSR
31testosterone44 59 11 2413.3FMR1, SOD2, TFRC, ATXN3, ABCB7
32doxorubicin44 49 1112.1SOD2, TFRC, ACO1, GSR
33adriamycin4410.0GSR, TFRC, SOD2

GO Terms for genes affiliated with Friedreich Ataxia

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16Gene Ontology
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Cellular components related to Friedreich Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00575910.2FXN, MIPEP, ATXN3, ME2, SOD2
2mitochondrionGO:0057399.7GSR, SOD2, ME2, MIPEP, FTMT, ABCB7

Biological processes related to Friedreich Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of lyase activityGO:05134910.4FTMT, FXN
2negative regulation of multicellular organism growthGO:04001510.4FXN, ATXN2
3positive regulation of transferase activityGO:05134710.3FXN, FTMT
4cellular iron ion homeostasisGO:00687910.3ACO1, FXN, ABCB7, FTMT, TFRC
5positive regulation of oxidoreductase activityGO:05135310.1FXN, FTMT

Molecular functions related to Friedreich Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ferric iron bindingGO:00819910.4FXN, FTMT
2ferroxidase activityGO:00432210.1FXN, FTMT

Products for genes affiliated with Friedreich Ataxia

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Sources for Friedreich Ataxia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet