FA
MCID: FRD001
MIFTS: 66

Friedreich Ataxia (FA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Summaries for Friedreich Ataxia

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22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 48OMIM, 20GeneReviews, 34MalaCards
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NINDS:45 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 parkinson's disease and ataxia with vitamin e deficiency. An important gene associated with Friedreich Ataxia is FXN (frataxin). The compounds ferric ammonium citrate and iron-sulfur have been mentioned in the context of this disorder. Affiliated tissues include heart, spinal cord and eye, and related mouse phenotypes are nervous system and behavior/neurological.

Genetics Home Reference:22 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:44 Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems.Ā 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).Ā 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:35 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:48 229300,601992

GeneReviews summary for friedreich

Aliases & Classifications for Friedreich Ataxia

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 66Wikipedia, 21GeneTests, 23GTR, 45NINDS, 35MedlinePlus, 41NCIt, 36MeSH, 28ICD9CM, 59SNOMED-CT, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
friedreich ataxia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

friedreich ataxia 9 20 44 22 48 11 46 50 63
friedreich's ataxia 9 66 44 21 23 45 35
frda 66 20 44 22 50
friedreich ataxia 1 9 23 63
hereditary spinal sclerosis 66 44
hereditary spinal ataxia 66 44
fa 22 50
spinocerebellar ataxia, friedreich 44
friedreich spinocerebellar ataxia 22
friedreich's tabes 9


External Ids:

Disease Ontology9 DOID:12705
NCIt41 C84718
MeSH36 D005621
ICD9CM28 334.0
SNOMED-CT59 10394003, 155011003
SNOMED-CT via Orphanet60 10394003
UMLS via Orphanet64 C0016719
MESH via Orphanet37 D005621
ICD10 via Orphanet27 G11.1

Related Diseases for Friedreich Ataxia

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Friedreich Ataxia:



Diseases related to friedreich ataxia

Symptoms for Friedreich Ataxia

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48OMIM
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Symptoms by clinical synopsis from OMIM:

229300

Clinical features from OMIM:

229300,601992

Drugs & Therapeutics for Friedreich Ataxia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Friedreich Ataxia:

id Genetic test Affiliating Genes
1 Friedreich Ataxia21 FXN
2 Friedreich Ataxia 123
3 Friedreich's Ataxia23

Anatomical Context for Friedreich Ataxia

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34MalaCards
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MalaCards organs/tissues related to Friedreich Ataxia:

34
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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38MGI
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MGI Mouse Phenotypes related to Friedreich Ataxia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.4FXN, TTPA, ATXN8OS, ATXN2
2MP:00053868.1FXN, TTPA, ATXN8OS, ATXN2

Publications for Friedreich Ataxia

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53PubMed
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Articles related to Friedreich Ataxia:

(show top 50)    (show all 369)
idTitleAuthorsYear
1
Cerebello-cerebral connectivity deficits in Friedreich ataxia. (23563750)
2013
2
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia. (23640016)
2013
3
Increased prevalence of sleep-disordered breathing in Friedreich ataxia. (23700333)
2013
4
Cognition in late-onset Friedreich ataxia. (23397368)
2013
5
Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length. (23925595)
2013
6
Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic protocol. (23538127)
2013
7
Exonic deletions of FXN and early-onset Friedreich ataxia. (22409940)
2012
8
Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia. (23052598)
2012
9
Decreased functional brain activation in Friedreich ataxia using the Simon effect task. (22542844)
2012
10
Role of mismatch repair enzymes in GAAA^TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells. (22798143)
2012
11
Therapeutic developments in Friedreich ataxia. (22791549)
2012
12
Characterising the neuropathology and neurobehavioural phenotype in Friedreich ataxia: a systematic review. (23560311)
2012
13
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function. (21147271)
2011
14
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. (21412413)
2011
15
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. (21771600)
2011
16
Effects of erythropoietin on frataxin levels and mitochondrial function in Friedreich ataxia--a dose-response trial. (21597884)
2011
17
Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change. (21570254)
2011
18
In children with Friedreich ataxia, muscle and ataxia parameters are associated. (21574990)
2011
19
Evaluation of neuropsychological functions in patients with Friedreich ataxia before and after cognitive therapy. (20923605)
2010
20
Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications. (20478553)
2010
21
Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling. (20338762)
2010
22
Exercise capacity and idebenone intervention in children and adolescents with Friedreich ataxia. (20599042)
2010
23
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. (20063431)
2010
24
Pharmacotherapy for Friedreich ataxia. (19320530)
2009
25
Friedreich ataxia. (18852343)
2008
26
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. (18463734)
2008
27
Predictors of progression in patients with Friedreich ataxia. (18759347)
2008
28
Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry. (18226551)
2008
29
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. (17562928)
2007
30
Frataxin gene point mutations in Italian Friedreich ataxia patients. (17703324)
2007
31
Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy. (17203663)
2007
32
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. (17498922)
2007
33
The evaluation of left ventricular systolic and diastolic functions in patients with Friedreich ataxia. A pulse tissue Doppler study. (16043940)
2005
34
Increased IRP1 activity in Friedreich ataxia. (15970401)
2005
35
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale. (15824358)
2005
36
GAA repeat instability in Friedreich ataxia YAC transgenic mice. (15233994)
2004
37
Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population. (15475256)
2004
38
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy. (11857753)
2002
39
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. (11823441)
2002
40
Atypical Friedreich ataxia with a very late onset and an unusual limited GAA repeat. (10987912)
2000
41
Increased levels of plasma malondialdehyde in Friedreich ataxia. (11113241)
2000
42
Clinical and genetic study of Friedreich ataxia in an Australian population. (10533031)
1999
43
Long Range Polymerase Chain Reaction-Based Diagnosis of Friedreich Ataxia in the Clinical Molecular Diagnostics Laboratory. (10096952)
1998
44
Locus heterogeneity in Friedreich ataxia. (10735274)
1997
45
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. (9153531)
1997
46
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. (9245990)
1997
47
Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases. (8677022)
1996
48
A case of successful pregnancy in a woman with Friedreich ataxia. (1517070)
1992
49
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. (6454083)
1981
50
Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia. (569787)
1978

Variations for Friedreich Ataxia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Friedreich Ataxia:

65
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

Clinvar genetic disease variations for Friedreich Ataxia:

1
id Gene Name Type Significance SNP ID Assembly Location
1FXNFXN, 6-BP DEL/15-BP INS, NT371indelPathogenic

Expression for genes affiliated with Friedreich Ataxia

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Friedreich Ataxia

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46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR
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Compounds related to Friedreich Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate469.8FXN, FTMT
2iron-sulfur469.6FXN, FTMT
3deferoxamine46 1210.5FTMT, FXN
4sulfur469.3FXN, FTMT
5oxygen46 2510.1FXN, FTMT, TTPA
6vitamin-e468.9FXN, APTX, TTPA
7alpha tocopherol468.9TTPA, APTX, FXN
8atp46 309.8TJP2, TTPA, FTMT, FXN

GO Terms for genes affiliated with Friedreich Ataxia

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17Gene Ontology
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Biological processes related to Friedreich Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of lyase activityGO:0513499.8FXN, FTMT
2positive regulation of transferase activityGO:0513479.7FXN, FTMT
3positive regulation of oxidoreductase activityGO:0513539.6FXN, FTMT
4negative regulation of multicellular organism growthGO:0400159.5ATXN2, FXN
5cellular iron ion homeostasisGO:0068799.3FXN, FTMT
6cell deathGO:0082199.1APTX, ATXN2

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

idNameGO IDScoreTop Affiliating Genes
1ferroxidase activityGO:0043229.5FXN, FTMT
2protein C-terminus bindingGO:0080229.5TJP2, ATXN2
3ferric iron bindingGO:0081999.3FXN, FTMT

Products for genes affiliated with Friedreich Ataxia

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Sources for Friedreich Ataxia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet