MCID: FRD001
MIFTS: 61

Friedreich Ataxia malady

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

Summaries for Friedreich Ataxia

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NINDS:42 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 based summary: Friedreich Ataxia, also known as friedreich's ataxia, is related to spinocerebellar ataxia and hereditary ataxia, and has symptoms including visual impairment, autosomal recessive inheritance and nystagmus. 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.

NIH Rare Diseases:41 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:32 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).

OMIM:45 Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb... (229300) more...

GeneReviews summary for friedreich

Aliases & Classifications for Friedreich Ataxia

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 60UMLS, 27ICD9CM, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Friedreich Ataxia, Aliases & Descriptions:

Name: Friedreich Ataxia 45 9 19 41 21 11 43 47 60
Friedreich's Ataxia 9 63 41 20 42 22 32
Frda 63 19 41 21 47
Friedreich Ataxia with Retained Reflexes 45 10 60
Hereditary Spinal Ataxia 63 41 60
Friedreich Ataxia 1 9 22 60
 
Fa 41 21 47
Hereditary Spinal Sclerosis 63 41
Spinocerebellar Ataxia, Friedreich 41
Friedreich Spinocerebellar Ataxia 21
Friedreich's Tabes 9
Frda1 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
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


External Ids:

OMIM45 229300
Disease Ontology9 DOID:12705
ICD9CM27 334.0
NCIt38 C84718
MeSH33 D005621
SNOMED-CT55 155011003, 10394003
Orphanet47 95
MESH via Orphanet34 D005621
ICD10 via Orphanet26 G11.1
UMLS via Orphanet61 C0016719

Related Diseases for Friedreich Ataxia

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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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Symptoms by clinical synopsis from OMIM:

229300

Clinical features from OMIM:

229300

HPO human phenotypes related to Friedreich Ataxia:

(show all 26)
id Description Frequency HPO Source Accession
1 visual impairment rare (5%) HP:0000505
2 autosomal recessive inheritance HP:0000007
3 nystagmus HP:0000639
4 optic atrophy HP:0000648
5 abnormality of vision evoked potentials HP:0000649
6 sensory neuropathy HP:0000763
7 diabetes mellitus HP:0000819
8 visual field defect HP:0001123
9 dysarthria HP:0001260
10 congestive heart failure HP:0001635
11 hypertrophic cardiomyopathy HP:0001639
12 pes cavus HP:0001761
13 gait ataxia HP:0002066
14 limb ataxia HP:0002070
15 impaired vibratory sensation HP:0002495
16 areflexia of lower limbs HP:0002522
17 scoliosis HP:0002650
18 abnormal ekg HP:0003115
19 abnormal echocardiogram HP:0003116
20 decreased pyruvate carboxylase activity HP:0003209
21 mitochondrial malic enzyme reduced HP:0003232
22 decreased sensory nerve conduction velocity HP:0003448
23 babinski sign HP:0003487
24 juvenile onset HP:0003621
25 decreased amplitude of sensory action potentials HP:0007078
26 impaired proprioception HP:0010831

Drugs & Therapeutics for Friedreich Ataxia

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Drug clinical trials:

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Search NIH Clinical Center for Friedreich Ataxia

Genetic Tests for Friedreich Ataxia

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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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MalaCards organs/tissues related to Friedreich Ataxia:

31
Heart, Spinal cord, Eye, Testes, Brain, Skeletal muscle, Whole blood, Cerebellum, Colon, Liver

Animal Models for Friedreich Ataxia or affiliated genes

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MGI Mouse Phenotypes related to Friedreich Ataxia:

35
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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Articles related to Friedreich Ataxia:

(show top 50)    (show all 400)
idTitleAuthorsYear
1
Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells. (25549872)
2015
2
Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia. (25198290)
2014
3
A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia. (25298866)
2014
4
Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia. (25267338)
2014
5
Cerebello-cerebral connectivity deficits in Friedreich ataxia. (23563750)
2013
6
Radial diffusivity in the cerebellar peduncles correlates with clinical severity in Friedreich ataxia. (23640016)
2013
7
Increased prevalence of sleep-disordered breathing in Friedreich ataxia. (23700333)
2013
8
Cognition in late-onset Friedreich ataxia. (23397368)
2013
9
Friedreich Ataxia: Executive Control Is Related to Disease Onset and GAA Repeat Length. (23925595)
2013
10
Assessment of upper limb function in young Friedreich ataxia patients compared to control subjects using a new three-dimensional kinematic protocol. (23538127)
2013
11
Exonic deletions of FXN and early-onset Friedreich ataxia. (22409940)
2012
12
Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia. (23052598)
2012
13
Decreased functional brain activation in Friedreich ataxia using the Simon effect task. (22542844)
2012
14
Role of mismatch repair enzymes in GAAA^TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells. (22798143)
2012
15
Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function. (21147271)
2011
16
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. (21412413)
2011
17
A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. (21771600)
2011
18
Effects of erythropoietin on frataxin levels and mitochondrial function in Friedreich ataxia--a dose-response trial. (21597884)
2011
19
Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change. (21570254)
2011
20
In children with Friedreich ataxia, muscle and ataxia parameters are associated. (21574990)
2011
21
Evaluation of neuropsychological functions in patients with Friedreich ataxia before and after cognitive therapy. (20923605)
2010
22
Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications. (20478553)
2010
23
Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling. (20338762)
2010
24
Exercise capacity and idebenone intervention in children and adolescents with Friedreich ataxia. (20599042)
2010
25
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design. (20063431)
2010
26
Pharmacotherapy for Friedreich ataxia. (19320530)
2009
27
Friedreich ataxia. (18852343)
2008
28
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. (18463734)
2008
29
Predictors of progression in patients with Friedreich ataxia. (18759347)
2008
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
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. (17562928)
2007
32
Frataxin gene point mutations in Italian Friedreich ataxia patients. (17703324)
2007
33
Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy. (17203663)
2007
34
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. (17498922)
2007
35
The evaluation of left ventricular systolic and diastolic functions in patients with Friedreich ataxia. A pulse tissue Doppler study. (16043940)
2005
36
Increased IRP1 activity in Friedreich ataxia. (15970401)
2005
37
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale. (15824358)
2005
38
GAA repeat instability in Friedreich ataxia YAC transgenic mice. (15233994)
2004
39
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia. (12516053)
2003
40
Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy. (11857753)
2002
41
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. (11823441)
2002
42
Atypical Friedreich ataxia with a very late onset and an unusual limited GAA repeat. (10987912)
2000
43
Clinical and genetic study of Friedreich ataxia in an Australian population. (10533031)
1999
44
Long Range Polymerase Chain Reaction-Based Diagnosis of Friedreich Ataxia in the Clinical Molecular Diagnostics Laboratory. (10096952)
1998
45
Locus heterogeneity in Friedreich ataxia. (10735274)
1997
46
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. (9153531)
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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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Friedreich Ataxia:

6
id Gene Variation 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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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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Sources:
43Novoseek, 12DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Friedreich Ataxia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1ferric ammonium citrate439.8FXN, FTMT
2iron-sulfur439.6FXN, FTMT
3deferoxamine43 1210.5FTMT, FXN
4sulfur439.3FXN, FTMT
5oxygen43 2410.1FXN, FTMT, TTPA
6vitamin-e438.9FXN, APTX, TTPA
7alpha tocopherol438.9TTPA, APTX, FXN
8atp43 289.8TJP2, TTPA, FTMT, FXN

GO Terms for genes affiliated with Friedreich Ataxia

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Biological processes related to Friedreich Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of lyase activityGO:00513499.8FXN, FTMT
2positive regulation of transferase activityGO:00513479.7FXN, FTMT
3positive regulation of oxidoreductase activityGO:00513539.6FXN, FTMT
4negative regulation of multicellular organism growthGO:00400159.5ATXN2, FXN
5cellular iron ion homeostasisGO:00068799.3FXN, FTMT
6cell deathGO:00082199.1APTX, ATXN2

Molecular functions related to Friedreich Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ferroxidase activityGO:00043229.5FXN, FTMT
2protein C-terminus bindingGO:00080229.5TJP2, ATXN2
3ferric iron bindingGO:00081999.3FXN, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet