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Disease Information for Fechtner syndrome/FTNS (22q11.2): Disease Mechanism & Classification

Class: CLASS/Pediatric disorders (ex)
: CLASS/Renal glomerular disorder (ex); CLASS/Renal/kidney involvement/disorder (ex); CLASS/Urologic (category)
Pathophysiology: Pathophysiology/COL4A5 Gene Mutation; Pathophysiology/Dominant and Autosomal recessive variants; Pathophysiology/Gene locus 22q11.2; Pathophysiology/Gene locus chromosome 22; Pathophysiology/Gene locus Chromosome 22q; Pathophysiology/Gene locus Chromosome X.; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Gene locus Xq22.3; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Heterozygous females/X-link/effected; Pathophysiology/Specific gene Collagen 4/alpha5 chain defect; Pathophysiology/X-linked and autosomal dominant types
: Pathophysiology/Hereditary disease renal effect; Pathophysiology/Renal manifestations/involvement; Pathophysiology/Secondary Renal Failure
: Pathophysiology/CTSA (Cathepsin A) Gene Mutation; Pathophysiology/Gene codes collagen type IV defect; Pathophysiology/Maternal Chromosome mutation
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Eponymic (category); PROCESS/Eponymic/Esoteric/Not yet integrated into database; PROCESS/Familial variant (ex); PROCESS/Genetic disorder/Spontaneous mutations/sporadic; PROCESS/Hereditary developmental disorder (ex); PROCESS/Hereditary dominance/incomplete penetrance (ex).; PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Esoteric disease (example); PROCESS/Subsets/Variable dominance/sex linkage; PROCESS/X-Linked dominant inheritance (ex)

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