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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Nephrotic Syndrome (NPHS2) proteinuria,hypoalbuminemia,hyperlipidemia etc Autosomal Recessive 1q25.2 Deletion NPHS2 704del9 Leu236Lysfs*3 Frame shift mutation & PTC Hameed et al., 2015/2015
Nephrotic Syndrome Type 2 proteinuria,hypoalbuminemia,etc Autosomal Recessive 1q25.2 Deletion NPHS2 704del9 Leu236Lysfs*3 Frame shift mutation & PTC Hameed et al., 2015/2015
Nephrotic Syndrome Type 2 proteinuria,hypoalbuminemia,etc Autosomal Recessive 1q25.2 Missense NPHS2 755G>A Arg229Gln Amino Acid Substitution Abid et al., 2012/2012
Nephrotic Syndrome Type 2 proteinuria,hypoalbuminemia,etc Autosomal Recessive 1q25.2 Missense NPHS2 1090C>T Peo341Ser Amino Acid Substitution Abid et al., 2012/2012
Nephrotic Syndrome Type 2 proteinuria,hypoalbuminemia,etc Autosomal Recessive 1q25.2 Missense NPHS2 378G>C Lys126Asn Amino Acid Substitution Abid et al., 2012/2012
Nephrotic Syndrome Type 2 proteinuria,hypoalbuminemia,etc Autosomal Recessive 1q25.2 Missense NPHS2 779T>A Val260Glu Amino Acid Substitution Abid et al., 2012/2012