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
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia. (24390816)
2014
2
Molecular and clinical investigation of Iranian patients with friedreich ataxia. (24375160)
2014
3
Cerebello-cerebral connectivity deficits in Friedreich ataxia. (23563750)
2013
4
150 years of Friedreich ataxia: from its discovery to therapy. (24024236)
2013
5
Diabetes in Friedreich ataxia. (23859345)
2013
6
Bioenergetics of the calf muscle in Friedreich ataxia patients measured by 31P-MRS before and after treatment with recombinant human erythropoietin. (23922695)
2013
7
Is Friedreich ataxia an epigenetic disorder? (22414340)
2012
8
Cognition in Friedreich ataxia. (22351352)
2012
9
Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia. (22484089)
2012
10
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. (21156720)
2011
11
Differential expression of PGC-1I+ and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts. (21687738)
2011
12
A gene expression phenotype in lymphocytes from Friedreich ataxia patients. (22162061)
2011
13
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. (21397024)
2011
14
Defects in mitochondrial axonal transport and membrane potential without increased reactive oxygen species production in a Drosophila model of Friedreich ataxia. (20739558)
2010
15
A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. (20675166)
2010
16
Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction. (20970754)
2010
17
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. (20156111)
2010
18
Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation. (20373285)
2010
19
Intermediate-dose idebenone and quality of life in Friedreich ataxia. (20399388)
2010
20
Pharmacotherapy for Friedreich ataxia. (19320530)
2009
21
Comparison of three clinical rating scales in Friedreich ataxia (FRDA). (19562766)
2009
22
Evaluating the progression of Friedreich ataxia and its treatment. (19283349)
2009
23
Friedreich ataxia: an update on animal models, frataxin function and therapies. (20225031)
2009
24
Diagnosis and treatment of Friedreich ataxia: a European perspective. (19347027)
2009
25
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. (18463734)
2008
26
Predictors of progression in patients with Friedreich ataxia. (18759347)
2008
27
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. (17562928)
2007
28
Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy. (17203663)
2007
29
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. (17498922)
2007
30
Catastrophic visual loss in a patient with Friedreich ataxia. (17296906)
2007
31
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro. (17693431)
2007
32
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia. (17167074)
2007
33
Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations. (16930014)
2006
34
Partial correction of sensitivity to oxidant stress in Friedreich ataxia patient fibroblasts by frataxin-encoding adeno-associated virus and lentivirus vectors. (16076253)
2005
35
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice. (15170226)
2004
36
Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. (15562408)
2004
37
Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia. (11809170)
2002
38
Idebenone in patients with Friedreich ataxia. (11406322)
2001
39
Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study. (11557239)
2001
40
Increased levels of plasma malondialdehyde in Friedreich ataxia. (11113241)
2000
41
Molecular pathogenesis of Friedreich ataxia. (10520935)
1999
42
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia. (10319894)
1999
43
Prenatal diagnosis of Friedreich ataxia. (9742572)
1998
44
Locus heterogeneity in Friedreich ataxia. (10735274)
1997
45
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. (9245990)
1997
46
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. (7485155)
1995
47
Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. (7678331)
1993
48
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. (8252047)
1993
49
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15. (2294745)
1990
50
"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus. (2764036)
1989

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