Disease #04242 (FRDA (Friedreich ataxia (FRDA)), OMIM:229300)

Official abbreviation FRDA
Name Friedreich ataxia (FRDA)
OMIM ID 229300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 18
Phenotype entries for this disease 17
Associated with 1 gene FXN
Associated tissues -
Disease features -
Remarks -
Date created 2015-04-21 15:42:04 +02:00 (CEST)
Date last edited 2022-04-08 09:19:52 +02:00 (CEST)


Individuals

18 entries on 1 page. Showing entries 1 - 18.
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00037733 - PubMed: Campuzano 1996 family, 2 affected sibs - - France - - - - - FRDA 8596916-Fam1 FXN FXN 2 2 Johan den Dunnen
00037734 - PubMed: Campuzano 1996 family, 1 affected - - Spain - - - - - FRDA 8596916-Fam2 FXN FXN 2 1 Johan den Dunnen
00037735 - PubMed: Campuzano 1996 family, 2 affected sibs - - Italy - - - - - FRDA 8596916-Fam3a FXN FXN 2 2 Johan den Dunnen
00037736 - PubMed: Campuzano 1996 family, 2 affected sibs - - Italy - - - - - FRDA 8596917-Fam3b FXN FXN 2 2 Johan den Dunnen
00037737 - PubMed: Campuzano 1996 family, 1 affected - - Italy - - - - - FRDA 8596918-Fam3c FXN FXN 2 1 Johan den Dunnen
00037739 - PubMed: Campuzano 1996 72 unrelated patients - - - - - - - - FRDA 08596916-dis FXN FXN 2 72 Johan den Dunnen
00037740 - - several unaffected carriers in family (both alleles) F - Turkey Turkmenistan >24y - - - FRDA ? FXN FXN 2 1 Nazli Basak
00037741 - PubMed: Campuzano 1996 2-generation family, 3 affecteds - - - - - - - - FRDA 08596916-Fam4 FXN FXN 2 3 Johan den Dunnen
00037742 - PubMed: Campuzano 1996 2-generation family, 2 affecteds - - - - - - - - FRDA 08596916-Fam5 FXN FXN 2 2 Johan den Dunnen
00046847 - PubMed: Campuzano 1996, Journal: Campuzano 1996 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/sister M no United States Acadian, Cajun - - - - FRDA - FXN FXN 2 1 Johan den Dunnen
00060288 - PubMed: Faruq 2014, Journal: Faruq 2014 3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs F;M yes India - - - - - FRDA Friedreich ataxia-like, see paper; ..., SACS SACS 1 3 Johan den Dunnen
00407742 affected PubMed: Montermini 1997 2-generation family, 2 affected sibs - yes Canada - - - - - FRDA - FXN FXN 1 2 Johan den Dunnen
00407743 affected PubMed: Montermini 1997 2-generation family, 3 affected sibs - - Canada - - - - - FRDA - FXN FXN 1 3 Johan den Dunnen
00407744 affected PubMed: Montermini 1997 analysis 96 expanded chromosomes - - Canada - - - - - FRDA - FXN FXN 1 1 Johan den Dunnen
00407759 patient PubMed: Montermini 1997 2-generation family, 1 affected, unaffected heterozygous carrier father - - Canada - - - - - FRDA - FXN FXN 2 3 Johan den Dunnen
00407799 Pat1 PubMed: Zuhlke 2004 - - - Germany - - - - - FRDA ataxia, foot deformity, scoliosis, axonal sensory neuropathy, mild dysarthria, 15y-wheelchairbound, 21y-hypertrophic cardiomyopathy, atrophy cervical spinal cord and upper cerebellar vermis FXN FXN 2 1 Johan den Dunnen
00407800 Pat2 PubMed: Zuhlke 2004 - - - Germany - - - - - FRDA ataxia, scoliosis, 27y-wheelchair-bound, slow progression, signs of cardiac hypertrophy and dysarthria FXN FXN 2 1 Johan den Dunnen
00407801 Pat3 PubMed: Zuhlke 2004 - - - Germany - - - - - FRDA 3t-ataxia, 4y-severe cardiomyopathy FXN FXN 2 1 Johan den Dunnen
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