MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:4874
Name:Friedreich Ataxia 1
Definition:
Alternative IDs:OMIM:229300
ParentIDs:MESH:D005621
TreeNumbers:C10.228.140.252.700.150/C565561 |C10.228.854.787.200/C565561 |C10.574.500.825.200/C565561 |C16.320.400.780.200/C565561 |C18.452.660.300/C565561
Synonyms:FA FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED |FARR, INCLUDED |FRDA |Frda1
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C565561
MeSH: C565561
OMIM: 229300;
MSeqDR LSDB: 00491;  
Genes: FXN;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003621Juvenile onset
3 HP:0003116Abnormal echocardiogram
4 HP:0003115Abnormal EKG
5 HP:0000649Abnormality of visual evoked potentials
6 HP:0002522Areflexia of lower limbs
7 HP:0003487Babinski sign
8 HP:0001635Congestive heart failure
9 HP:0007078Decreased amplitude of sensory action potentials
10 HP:0003209Decreased pyruvate carboxylase activity
11 HP:0003448Decreased sensory nerve conduction velocity
12 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
13 HP:0001260Dysarthria
NAMDC:  Dysarthria
14 HP:0002066Gait ataxia
15 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
16 HP:0010831Impaired proprioception
17 HP:0002495Impaired vibratory sensation
18 HP:0002070Limb ataxia
19 HP:0003232Mitochondrial malic enzyme reduced
20 HP:0000639Nystagmus
21 HP:0000648Optic atrophy
22 HP:0001761Pes cavus
23 HP:0007663Reduced visual acuityHP:0040283
24 HP:0002650Scoliosis
25 HP:0000763Sensory neuropathy
26 HP:0001123Visual field defect
27 HP:0000505Visual impairmentHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000144.5(FXN):c.54A>G (p.Pro18=)2395FXNBenign2481598RCV000117105|RCV000676782|RCV000602503|RCV002310675; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95|MeSH:D030342,MedGen:C0950123971650752716507529:g.71650752A>GClinGen:CA152917CN230736 Cardiovascular phenotype;
NM_000144.5(FXN):c.146C>A (p.Thr49Asn)2395FXNUncertain significance995690945RCV001334263|RCV002546678; NMONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95|MeSH:D030342,MedGen:C09501239716508447165084471650844-
NM_000144.5(FXN):c.165+1338AAG[180]2395FXNPathogenic193922938RCV001726540; NMONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:959716522007165220171652200-
NM_000144.5(FXN):c.166-5T>G2395FXNLikely pathogenic2133102338RCV001726502; NMONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:959716612967166129671661296-
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr)2395FXNPathogenic886037630RCV000029175; NMONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95971668163716681689:g.71668163_71668164insACACCTTGAGGACAOMIM:606829.0009,ClinGen:CA10575562C1856689 229300 Friedreich ataxia 1;
NM_000144.5(FXN):c.438C>G (p.Asn146Lys)2395FXNPathogenic146818694RCV000664219; NMONDO:MONDO:0100340,MedGen:C1856689,OMIM:229300, Orphanet:95971679907716799079:g.71679907C>G-C1856689 229300 Friedreich ataxia 1;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000165060 MSeqDR Search EnsemblFXN106frataxin [Source:HGNC Symbol;Acc:3951]00491

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