FA
MCID: FRD001
MIFTS: 64

Friedreich Ataxia (FA) malady

Neuronal, Eye categories

Summaries for Friedreich Ataxia

Sources:
43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NINDS:44 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 alzheimer's disease and restless legs syndrome. 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 liver, spinal cord and brain, and related mouse phenotype nervous system.

NIH Rare Diseases:43 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:34 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

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).

Description from OMIM:47 229300,601992

GeneReviews summary for friedreich

Aliases & Classifications for Friedreich Ataxia

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 22GTR, 64Wikipedia, 20GeneTests, 44NINDS, 34MedlinePlus, 27ICD9CM, 35MeSH, 57SNOMED-CT, 40NCIt, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
friedreich ataxia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

friedreich ataxia 8 19 43 21 47 10 45 49 61
friedreich's ataxia 8 64 43 20 22 44 34
frda 64 19 43 21
friedreich ataxia 1 8 22 61
hereditary spinal sclerosis 64 43
hereditary spinal ataxia 64 43
spinocerebellar ataxia, friedreich 43
friedreich spinocerebellar ataxia 21
friedreich's tabes 8
fa 21


External Ids:

Disease Ontology8 DOID:12705
ICD9CM27 334.0
MeSH35 D005621
NCIt40 C84718
SNOMED-CT57 10394003, 155011003
SNOMED-CT via Orphanet58 10394003
UMLS via Orphanet62 C0016719
MESH via Orphanet36 D005621
ICD10 via Orphanet26 G11.1

Related Diseases for Friedreich Ataxia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Friedreich Ataxia family:

friedreich ataxia 2 friedreich ataxia with retained reflexes

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

(show top 50)    (show all 466)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer's disease30.3SOD2, TTPA, GSR
2restless legs syndrome30.1TFRC
3ataxia with vitamin e deficiency30.1APTX, TTPA, FXN
4spinocerebellar degeneration30.1ATXN3, ATXN2
5spinocerebellar ataxia30.1FMR1, ATXN2, ATXN8OS, ATXN3, TTPA, FXN
6acute myocardial infarction29.9TFRC, ABCB7, GSR
7parkinson's disease29.9FMR1, SOD2, ATXN2, FXN, ACO1, GSR
8huntington's disease29.8ATXN3
9refractory anemia29.8FTMT, TFRC
10amyotrophic lateral sclerosis29.6GSR, ATXN2, TFRC, SOD2
11ataxia11.4
12squamous cell carcinoma10.6
13hepatitis c10.6
14hepatitis a10.6
15autoimmune lymphoproliferative syndrome10.6
16acute leukemia10.6
17adenocarcinoma10.6
18systemic lupus erythematosus10.5
19arthritis10.5
20hepatitis e10.5
21friedreich ataxia congenital glaucoma10.4
22t-cell leukemia10.4
23thyroiditis10.4
24silicosis10.4
25fetal alcohol syndrome10.4
26colorectal cancer10.4
27graft versus host disease10.4
28fanconi's anemia10.4
29n syndrome10.4
30viral hepatitis10.4
31oral squamous cell carcinoma10.3
32acute myeloid leukemia10.3
33friedreich ataxia 210.3
34graves' disease10.3
35astrocytoma10.3
36hepatitis c virus10.3
37autoimmune thyroiditis10.3
38bladder carcinoma10.3
39hepatitis b10.3
40hepatitis d10.3
41uveitis10.3
42myelodysplastic syndromes10.3
43toxic epidermal necrolysis10.3
44stevens-johnson syndrome10.2
45atherosclerosis10.2
46esophageal squamous cell carcinoma10.2
47hypertrophic cardiomyopathy10.2
48retinoblastoma fa - friedreich ataxia10.2
49harding ataxia10.2
50tremor10.2

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



Diseases related to friedreich ataxia

Clinical Features for Friedreich Ataxia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

229300,601992

Clinical synopsis from OMIM:

229300

Drugs & Therapeutics for Friedreich Ataxia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Friedreich Ataxia:

33
Liver, Spinal cord, Brain, Kidney, Whole blood, Cerebellum, Heart, Skeletal muscle, Colon, T cells, B lymphoblasts, B cells, Cerebellum peduncles, Dorsal root ganglion

Animal Models for Friedreich Ataxia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Friedreich Ataxia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.0FXN, TTPA, ABCB7, ATXN3, ATXN8OS, ATXN2

Publications for Friedreich Ataxia

Sources:
51PubMed
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Articles related to Friedreich Ataxia:

(show top 50)    (show all 541)
idTitleAuthorsYear
1
A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like. (24011957)
2013
2
150 years of Friedreich ataxia: from its discovery to therapy. (24024236)
2013
3
Diagnosis and Genetic Counseling for Friedreich's Ataxia: A time for consideration of TP-PCR in an Indian Setup. (23935342)
2013
4
Friedreich ataxia: neuropathology revised. (23334592)
2013
5
Optical Coherence Tomography and Visual Field Findings in Patients With Friedreich Ataxia. (24275983)
2013
6
Fixing Frataxin: "Ironing Out" the Metabolic Defect in Friedreich's Ataxia. (24138602)
2013
7
Exonic deletions of FXN and early-onset Friedreich ataxia. (22409940)
2012
8
Role of mismatch repair enzymes in GAAA^TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells. (22798143)
2012
9
Cardiomyopathy in Friedreich ataxia: clinical findings and research. (22764179)
2012
10
miR-886-3p levels are elevated in Friedreich ataxia. (22764244)
2012
11
Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma. (22752483)
2012
12
Substantia nigra hypoechogenicity in Friedreich ataxia. (22161875)
2012
13
Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia. (22078220)
2012
14
Cardiac transplantation in Friedreich ataxia. (22752490)
2012
15
Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. (21486239)
2011
16
Generation of induced pluripotent stem cell lines from Friedreich ataxia patients. (21181307)
2011
17
Quantification of circulating plasma DNA in Friedreich's ataxia and spinocerebellar ataxia types 2 and 12. (21329459)
2011
18
PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia. (20383327)
2010
19
Idebenone: an emerging therapy for Friedreich ataxia. (19283347)
2009
20
Friedreich ataxia. (18852343)
2008
21
Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells. (17235301)
2007
22
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. (17262846)
2007
23
The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins. (17443334)
2007
24
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. (16919418)
2006
25
Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients. (17075779)
2006
26
The evaluation of left ventricular systolic and diastolic functions in patients with Friedreich ataxia. A pulse tissue Doppler study. (16043940)
2005
27
Increased IRP1 activity in Friedreich ataxia. (15970401)
2005
28
Partial correction of sensitivity to oxidant stress in Friedreich ataxia patient fibroblasts by frataxin-encoding adeno-associated virus and lentivirus vectors. (16076253)
2005
29
Assessment of in vitro and in vivo mitochondrial function in Friedreich's ataxia and Huntington's disease. (15201464)
2004
30
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. (15534367)
2004
31
Friedreich's ataxia--yesterday, today and tomorrow. (14570998)
2003
32
Glutathione in blood of patients with Friedreich's ataxia. (11737244)
2001
33
Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis. (11714098)
2001
34
Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells. (11734214)
2001
35
Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. (10996881)
2000
36
Clinical and genetic study of Friedreich ataxia in an Australian population. (10533031)
1999
37
Friedreich's ataxia presenting as adult-onset spastic paraparesis. (10732807)
1998
38
Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia. (9142000)
1997
39
Olivopontocerebellar atrophy and Friedreich's ataxia: neuropsychological consequences of bilateral versus unilateral cerebellar lesions. (9378599)
1997
40
Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes. (8870928)
1996
41
Allele frequencies of DNA markers genetically linked to Friedreich ataxia in the German population. (8103037)
1993
42
Pregnancy associated with Friedreich ataxia. (2216270)
1990
43
"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus. (2764036)
1989
44
Normal pyruvate oxidation in Friedreich ataxia and Charcot-Marie-Tooth disease fibroblasts. (4075529)
1985
45
Friedreich ataxia and low pyruvate carboxylase activity in liver and fibroblasts. (6847147)
1983
46
Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia. (6820014)
1982
47
Myoclonic epilepsia partialis continua and Friedreich Ataxia. (4414767)
1974
48
Ulcero-mutilating acropathy, hereditary sensory neuropathy and signs of Friedreich heredo-ataxia in two brothers. (5556920)
1971
49
Case of Early Friedreich's Ataxia (Shown for Comparison with the Case of Juvenile Tabes Dorsalis. (19984064)
1924
50
A Case of Friedreich's Hereditary Ataxia: With Necropsy. (20758583)
1899

Genetic Variations for Friedreich Ataxia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Friedreich Ataxia:

63
id Symbol AA change Variation 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

Sources:
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

Sources:
38NCBI 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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to Friedreich Ataxia according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1fenton4510.7GSR, FXN, SOD2
2protoporphyrin ix45 11 2412.7FXN, ABCB7, TFRC
3ferric ammonium citrate4510.7TFRC, FTMT, FXN, ACO1
4tocopherol4510.7GSR, TTPA, SOD2
5deferoxamine45 1111.6TFRC, FTMT, FXN, ACO1
6sulfur4510.6ACO1, FXN, FTMT
7propyl gallate4510.6GSR, SOD2
8hypoxanthine45 11 2412.6TFRC, SOD2, FMR1
9vitamin-e4510.6APTX, ABCB7, TTPA, FXN, GSR
10alpha tocopherol4510.6SOD2, APTX, TTPA, FXN, GSR
11iron-sulfur4510.6ACO1, FXN, ABCB7, FTMT, MIPEP
12malate4510.6MIPEP, ME2, SOD2
13menadione45 11 2412.6SOD2, TFRC, GSR
14folate4510.6FMR1, SOD2, TFRC, GSR
15glutathion4510.6SOD2, GSR
16polyacrylamide4510.5SOD2, ATXN2, ATXN3, ABCB7, ACO1
17betacarotene4510.5SOD2, TFRC, GSR
18n acetylcysteine4510.5SOD2, TFRC, FXN, ACO1, GSR
193-amino-1,2,4-triazole4510.5GSR, SOD2
20manganese45 2411.5SOD2, TFRC, ME2, MIPEP, ACO1
21glutamine4510.5SOD2, TFRC, ATXN2, ATXN3, TTPA
22peroxynitrite4510.5GSR, ACO1, SOD2
23iron45 2411.5SOD2, TFRC, MIPEP, FTMT, ABCB7, FXN
24creatinine4510.4GSR, ABCB7, TFRC, SOD2, FMR1
25oxygen45 2411.4SOD2, FTMT, ABCB7, TTPA, FXN, ACO1
26atp45 2911.4SOD2, ME2, TJP2, FTMT, ABCB7, TTPA
27n-ethylmaleimide45 1111.4GSR, ACO1, TFRC
28dehydroascorbic acid45 1111.4GSR, SOD2
29sodium nitroprusside4510.3ACO1, TFRC, SOD2
30cysteine4510.3SOD2, TFRC, ATXN3, FXN, ACO1, GSR
31testosterone45 60 11 2413.3FMR1, SOD2, TFRC, ATXN3, ABCB7
32doxorubicin45 50 1112.1SOD2, TFRC, ACO1, GSR
33adriamycin4510.0GSR, TFRC, SOD2

GO Terms for genes affiliated with Friedreich Ataxia

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet