FKRP, fukutin related protein, 79147

N. diseases: 248; N. variants: 71
Disease: Walker-Warburg congenital muscular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. 18691338 2009
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. 18639457 2008
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. 18671187 2008
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy. 18060779 2008
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 GeneticVariation disease BEFREE Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malformations (Walker Warburg syndrome; muscle-eye-brain disease; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D) to a relatively milder congenital variant with no brain involvement (congenital muscular dystrophy type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N). 19019316 2008
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 Biomarker disease BEFREE Mutations in POMT1, POMT2, fukutin, FKRP and LARGE genes are found in 20-30% of children with WWS. 18640039 2008
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067 2007
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 GeneticVariation disease CLINVAR A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I. 17055682 2007
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 Biomarker disease BEFREE So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases. 17161965 2007
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. 17446099 2007
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance. 16786213 2006
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. 16368217 2006
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. 16634037 2006
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. 16476814 2006
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. 17113772 2006
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. 15580560 2005
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. 15833426 2005
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. 15574464 2005
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796 2004
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. 14742276 2004
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 15121789 2004
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. 15060126 2004
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 GeneticVariation disease BEFREE Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome, each associated with eye abnormalities and neuronal migration defects, result from mutations in fukutin, POMGnT1 and POMT1, respectively, while mutations in the fukutin-related protein (FKRP) gene cause congenital muscular dystrophy 1C, typically lacking brain involvement. 12966029 2003
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR The phenotype of limb-girdle muscular dystrophy type 2I. 12707425 2003
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.800 CausalMutation disease CLINVAR Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 14647208 2003