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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/229300
http://purl.bioontology.org/ontology/OMIM/229300
|
|---|---|
| Preferred Name | FRIEDREICH ATAXIA |
| Synonyms |
FRDA1
FRDA
FRIEDREICH ATAXIA WITH RETAINED REFLEXES
FRIEDREICH ATAXIA 1
FARR
FA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FRDA1
FRDA
FRIEDREICH ATAXIA WITH RETAINED REFLEXES
FRIEDREICH ATAXIA 1
FARR
FA
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|---|---|
| prefLabel | FRIEDREICH ATAXIA
|
| Gene Symbol |
FARR
FXN
FRDA
X25
|
| 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]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 229300
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1856689
C0016719
C1847416
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |