MCID: FRD002

Friedreich Ataxia with Retained Reflexes malady

Genetic diseases (common) category

Summaries for Friedreich Ataxia with Retained Reflexes

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Sources:
48OMIM, 34MalaCards
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MalaCards: Friedreich Ataxia with Retained Reflexes An important gene associated with Friedreich Ataxia with Retained Reflexes is FXN (frataxin).

Description from OMIM:48 229300

Aliases & Classifications for Friedreich Ataxia with Retained Reflexes

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Sources:
48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

friedreich ataxia with retained reflexes 48


Related Diseases for Friedreich Ataxia with Retained Reflexes

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Symptoms for Friedreich Ataxia with Retained Reflexes

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Sources:
48OMIM
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Clinical features from OMIM:

229300

Drugs & Therapeutics for Friedreich Ataxia with Retained Reflexes

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Friedreich Ataxia with Retained Reflexes

Drug clinical trials:

Search ClinicalTrials for Friedreich Ataxia with Retained Reflexes

Search NIH Clinical Center for Friedreich Ataxia with Retained Reflexes

Search CenterWatch for Friedreich Ataxia with Retained Reflexes

Genetic Tests for Friedreich Ataxia with Retained Reflexes

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Anatomical Context for Friedreich Ataxia with Retained Reflexes

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Animal Models for Friedreich Ataxia with Retained Reflexes or affiliated genes

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Publications for Friedreich Ataxia with Retained Reflexes

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Variations for Friedreich Ataxia with Retained Reflexes

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Friedreich Ataxia with Retained Reflexes:

65
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 with Retained Reflexes:

1
id Gene Name Type Significance SNP ID Assembly Location
1FXNFXN, 6-BP DEL/15-BP INS, NT371indelPathogenic

Expression for genes affiliated with Friedreich Ataxia with Retained Reflexes

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Friedreich Ataxia with Retained Reflexes

Search GEO for disease gene expression data for Friedreich Ataxia with Retained Reflexes.

Pathways for genes affiliated with Friedreich Ataxia with Retained Reflexes

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Compounds for genes affiliated with Friedreich Ataxia with Retained Reflexes

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GO Terms for genes affiliated with Friedreich Ataxia with Retained Reflexes

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Products for genes affiliated with Friedreich Ataxia with Retained Reflexes

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Friedreich Ataxia with Retained Reflexes

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet