loading...| Preferred Name | FRIEDREICH ATAXIA | |
| Synonyms |
FRDA1 FRDA FRIEDREICH ATAXIA WITH RETAINED REFLEXES FRIEDREICH ATAXIA 1 FARR FA |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/229300 |
|
| altLabel |
FRDA1 FRDA FRIEDREICH ATAXIA WITH RETAINED REFLEXES FRIEDREICH ATAXIA 1 FARR FA |
|
| cui |
C1856689 C0016719 C1847416 |
|
| Gene Locus |
9q13 |
|
| Gene Symbol |
FARR FXN FRDA X25 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU003224 http://purl.bioontology.org/ontology/OMIM/MTHU028003 http://purl.bioontology.org/ontology/OMIM/MTHU012970 http://purl.bioontology.org/ontology/OMIM/MTHU012965 http://purl.bioontology.org/ontology/OMIM/MTHU036798 http://purl.bioontology.org/ontology/OMIM/MTHU012963 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU012968 http://purl.bioontology.org/ontology/OMIM/MTHU037457 http://purl.bioontology.org/ontology/OMIM/MTHU012964 http://purl.bioontology.org/ontology/OMIM/MTHU012967 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU012969 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU012962 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU012961 http://purl.bioontology.org/ontology/OMIM/MTHU012966 http://purl.bioontology.org/ontology/OMIM/MTHU012971 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
229300 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
FRIEDREICH ATAXIA |
|
| Scope Statement |
Most common genetic abnormality is a (GAA)n trinucleotide repeat expansion in intron 1 of the FXN gene (606829.0001) [MISCELLANEOUS] Estimated carrier frequency 1/100 [MISCELLANEOUS] Caused by mutation or trinucleotide repeat expansion (GAA)n in the frataxin gene (FXN, 606829.0001) [MOLECULAR BASIS] Major cause of death is heart failure [MISCELLANEOUS] Patients often nonambulatory by the mid-twenties [MISCELLANEOUS] Onset before adolescence [MISCELLANEOUS] Repeat expansions range from 70 to over 1,000 (normal 5 to 30 repeats) [MISCELLANEOUS] Average age at death is 37 years [MISCELLANEOUS] Most common inherited ataxia [MISCELLANEOUS] |
|
| tui |
T047 |