eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| friedreich ataxia | ||||
| Disease ID | 299 |
|---|---|
| Disease | friedreich ataxia |
| Definition | An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75) |
| Synonym | ataxia friedreich ataxia friedrich's ataxia, friedreich ataxia, friedreich familial ataxia, friedreich hereditary ataxia, friedreich spinocerebellar ataxia, friedreich's ataxia, friedreich's familial ataxia, friedreich's hereditary ataxias, friedreich ataxias, friedreich's hereditary disease, friedreich disease, friedreich's fa - friedreich ataxia familial ataxia familial ataxia, friedreich familial ataxia, friedreich's family ataxia friedreich ataxia (disorder) friedreich ataxia [disease/finding] friedreich ataxias friedreich dis friedreich disease friedreich familial ataxia friedreich hereditary ataxia friedreich hereditary spinal ataxia friedreich spinocerebellar ataxia friedreich's ataxia friedreich's ataxia (disorder) friedreich's disease friedreich's familial ataxia friedreich's hereditary ataxia friedreich's hereditary ataxias friedreich's hereditary spinal ataxia friedreich's tabes friedreichs ataxia friedreichs dis friedreichs familial ataxia friedreichs hereditary ataxia friedrich's ataxia friedrick's ataxia hereditary ataxia, friedreich hereditary ataxia, friedreich's hereditary ataxias, friedreich's hereditary spinal ataxia hereditary spinal ataxia, friedreich hereditary spinal ataxia, friedreich's hereditary spinal scleroses hereditary spinal sclerosis scleroses, hereditary spinal sclerosis, hereditary spinal spinal scleroses, hereditary spinal sclerosis hereditary spinal sclerosis, hereditary spinocerebellar ataxia, friedreich |
| Orphanet | |
| DOID | |
| UMLS | C0016719 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:26) C0878544 | cardiomyopathy | 11 C0442874 | neuropathy | 2 C0004134 | ataxia | 2 C0271270 | oculomotor apraxia | 2 C0003635 | apraxia | 2 C0011847 | diabetes | 2 C0151313 | sensory neuropathy | 1 C0018801 | heart failure | 1 C0679466 | cognitive deficits | 1 C0007194 | hypertrophic obstructive cardiomyopathy | 1 C0270921 | axonal neuropathy | 1 C0020179 | huntington's disease | 1 C0018799 | heart disease | 1 C0018802 | congestive heart failure | 1 C0036439 | scoliosis | 1 C0042875 | vitamin e deficiency | 1 C0011570 | depression | 1 C0018213 | graves' disease | 1 C0035258 | restless legs syndrome | 1 C0042133 | uterine leiomyoma | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0456909 | vision loss | 1 C0268151 | classical galactosaemia | 1 C0007193 | dilated cardiomyopathy | 1 C0023267 | leiomyoma | 1 C0007194 | obstructive cardiomyopathy | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:72) 2334 | AFF2 | 2.828 | DISEASES 174 | AFP | 1.246 | DISEASES 55750 | AGK | 1.378 | DISEASES 270 | AMPD1 | 1.041 | DISEASES 54840 | APTX | 4.99 | DISEASES 85300 | ATCAY | 2.774 | DISEASES 51062 | ATL1 | 1.788 | DISEASES 4287 | ATXN3 | 4.687 | DISEASES 6314 | ATXN7 | 4.713 | DISEASES 6315 | ATXN8OS | 1.998 | DISEASES 617 | BCS1L | 2.751 | DISEASES 755 | C21orf2 | 5.336 | DISEASES 203228 | C9orf72 | 1.233 | DISEASES 773 | CACNA1A | 4.497 | DISEASES 7555 | CNBP | 1.091 | DISEASES 1431 | CS | 2.576 | DISEASES 55157 | DARS2 | 1.824 | DISEASES 28514 | DLL1 | 1.349 | DISEASES 2235 | FECH | 3.031 | DISEASES 2259 | FGF14 | 1.567 | DISEASES 2271 | FH | 1.325 | DISEASES 2332 | FMR1 | 2.855 | DISEASES 8928 | FOXH1 | 2.268 | DISEASES 100302692 | FTX | 2.012 | DISEASES 2395 | FXN | 9.199 | DISEASES 51218 | GLRX5 | 3.11 | DISEASES 8733 | GPAA1 | 5.425 | DISEASES 2869 | GRK5 | 1.342 | DISEASES 55506 | H2AFY2 | 2.728 | DISEASES 391723 | HELT | 1.876 | DISEASES 9843 | HEPH | 2.507 | DISEASES 3077 | HFE | 2.216 | DISEASES 148738 | HFE2 | 1.289 | DISEASES 3064 | HTT | 1.161 | DISEASES 3748 | KCNC3 | 2.906 | DISEASES 57626 | KLHL1 | 2.578 | DISEASES 57128 | LYRM4 | 5.633 | DISEASES 4190 | MDH1 | 1.396 | DISEASES 4285 | MIPEP | 2.932 | DISEASES 10797 | MTHFD2 | 1.728 | DISEASES 4536 | MT-ND2 | 1.605 | DISEASES 4538 | MT-ND4 | 2.279 | DISEASES 4539 | MT-ND4L | 1.613 | DISEASES 4566 | MT-TK | 2.96 | DISEASES 4694 | NDUFA1 | 1.088 | DISEASES 29078 | NDUFAF4 | 2.507 | DISEASES 9054 | NFS1 | 6.125 | DISEASES 7703 | PCGF2 | 1.525 | DISEASES 5170 | PDPK1 | 1.659 | DISEASES 65018 | PINK1 | 1.374 | DISEASES 10531 | PITRM1 | 2.619 | DISEASES 25894 | PLEKHG4 | 2.249 | DISEASES 23203 | PMPCA | 1.732 | DISEASES 11284 | PNKP | 1.541 | DISEASES 11232 | POLG2 | 1.468 | DISEASES 5521 | PPP2R2B | 3.258 | DISEASES 5568 | PRKACG | 2.478 | DISEASES 5888 | RAD51 | 1.483 | DISEASES 26278 | SACS | 4.687 | DISEASES 286205 | SCAI | 1.961 | DISEASES 6337 | SCNN1A | 1.268 | DISEASES 23410 | SIRT3 | 1.577 | DISEASES 4891 | SLC11A2 | 2.344 | DISEASES 81894 | SLC25A28 | 3.888 | DISEASES 51312 | SLC25A37 | 2.695 | DISEASES 55676 | SLC30A6 | 1.849 | DISEASES 9152 | SLC6A5 | 1.388 | DISEASES 6648 | SOD2 | 1.478 | DISEASES 6683 | SPAST | 1.928 | DISEASES 23345 | SYNE1 | 2.288 | DISEASES 7018 | TF | 2.319 | DISEASES 7037 | TFRC | 2.252 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) FXN | 9q21.11 |
| Disease ID | 299 |
|---|---|
| Disease | friedreich ataxia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:9) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0878544 | cardiomyopathy | 6 C0007193 | dilated cardiomyopathy | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0235031 | neurological symptoms | 1 C0018799 | heart disease | 1 C0442874 | neuropathy | 1 C0752303 | urological manifestation | 1 C0151313 | sensory neuropathy | 1 C0018802 | congestive heart failure | 1 C0036439 | scoliosis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894105 | NA | 2395 | FXN | umls:C0016719 | CLINVAR | NA | 0.431174817 | NA | FXN | 9 | 69053193 | T | C,G |
| rs104894106 | NA | 2395 | FXN | umls:C0016719 | CLINVAR | NA | 0.431174817 | NA | FXN | 9 | 69065013 | A | T |
| rs104894107 | NA | 2395 | FXN | umls:C0016719 | CLINVAR | NA | 0.431174817 | NA | FXN | 9 | 69064942 | G | C,T |
| rs104894107 | 11843702 | 2395 | FXN | umls:C0016719 | BeFree | Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene. | 0.431174817 | 2002 | FXN | 9 | 69064942 | G | C,T |
| rs104894108 | NA | 2395 | FXN | umls:C0016719 | CLINVAR | NA | 0.431174817 | NA | FXN | 9 | 69035785 | G | A,T |
| rs140987490 | NA | 2395 | FXN | umls:C0016719 | CLINVAR | NA | 0.431174817 | NA | FXN | 9 | 69064936 | A | G |
| rs143396368 | 24816001 | 2395 | FXN | umls:C0016719 | BeFree | Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis. | 0.431174817 | 2014 | FXN | 9 | 69072623 | G | A,C |
| rs1800562 | 24390816 | 3077 | HFE | umls:C0016719 | BeFree | HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia. | 0.000271442 | 2013 | HFE | 6 | 26092913 | G | A |
| rs5186 | 21771600 | 8733 | GPAA1 | umls:C0016719 | BeFree | The AGTR1 polymorphism rs5186 appears to modify the FRDA cardiac phenotype independently of GAA1. | 0.000271442 | 2011 | AGTR1 | 3 | 148742201 | A | C |
| rs56214919 | NA | 2395 | FXN | umls:C0016719 | CLINVAR | NA | 0.431174817 | NA | FXN | 9 | 69072646 | T | G |
| rs56214919 | 11030757 | 2395 | FXN | umls:C0016719 | BeFree | Expression of the FRDA (W173G) cDNA in yfh1 delta yeast leads to increased levels of mitochondrial iron which are not as elevated as in Yfh1p-deficient cells but are above the threshold for oxidative damage of mitochondrial DNA and iron-sulfur centers, causing a typical yfh1 delta phenotype. | 0.431174817 | 2000 | FXN | 9 | 69072646 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002540 | Inability to walk | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0002066 | Gait ataxia | MP:0001393 | ataxia | inability to coordinate voluntary muscular movements |
| HP:0003431 | Decreased motor nerve conduction velocity | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
| HP:0002839 | Urinary bladder sphincter dysfunction | MP:0011874 | enlarged urinary bladder | increased size of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys |
| HP:0009130 | Hand muscle atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0002522 | Areflexia of lower limbs | MP:0004485 | increased response of heart to induced stress | increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0003390 | Sensory axonal neuropathy | MP:0004768 | abnormal axonal transport | any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001760 | Abnormality of the foot | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0002070 | Limb ataxia | MP:0001393 | ataxia | inability to coordinate voluntary muscular movements |
| HP:0007663 | Reduced visual acuity | MP:0006149 | decreased visual acuity | loss of visual acuity or ability to distinguish small details |
| HP:0007010 | Poor fine motor coordination | MP:0001405 | impaired coordination | reduced ability to execute integrated movements of muscle |
Mapped by homologous gene(Total Items:31) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002522 | Areflexia of lower limbs | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002141 | Gait imbalance | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0007663 | Reduced visual acuity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003431 | Decreased motor nerve conduction velocity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001638 | Cardiomyopathy | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002080 | Intention tremor | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001310 | Dysmetria | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009130 | Hand muscle atrophy | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0002546 | Incomprehensible speech | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002540 | Inability to walk | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001761 | Pes cavus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010831 | Impaired proprioception | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007010 | Poor fine motor coordination | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0002839 | Urinary bladder sphincter dysfunction | MP:0012676 | dilated brain ventricles | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003390 | Sensory axonal neuropathy | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002066 | Gait ataxia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0002072 | Chorea | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003487 | Babinski sign | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002527 | Falls | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002070 | Limb ataxia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| Disease ID | 299 |
|---|---|
| Disease | friedreich ataxia |
| Case | (Waiting for update.) |