monogenic diseases - phenomena

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• allelic heterogeneity, compound heterozygosity, pleiotropy achondroplasia
• incomplete dominance, allelic heterogeneity, compound heterozygosity hypochondroplasia
• allelic heterogeneity, lethal saddan
• allelic heterogeneity, lethal thanatophoric dysplasia
• incomplete dominance, allelic/locus heterogeneity, compound/double heterozygosity familial hypercholesterolemia
• incomplete dominance, incomplete penetrance, allelic heterogeneity, pleiotropy, variable expressivity, pleiotropy, AV with founder effect variegate porphyria
• phenotype of compound hetrozygous determined by allele with higher residual activity, incomplete penetrance, allelic heterogeneity, pleiotropy, variable ecpressivity, AV with founder effect haemochromatosis
• allelic heterogeneity, compound heterozygosity, pleiotropy, AV with founder effect cystic fibrosis
• phenotype of compound heterozygous determined by allele with higher residual activity, allelic heterogeneity, pleiotropy, Av with founder effect phenylketonuria
• more common/severe in men, phenotype depending on responsible allele, allelic heterogeneity, pleiotropy danon disease
• sometimes lethal azoospermia, oligozoospermia
• incomplete dominance, allelic heterogeneity, pleiotropy, more common in females leri weil syndrome
• incomplete dominance, allelic heterogeneity, pleiotropy, more common in males daltonism
• somatic mosaicism, severity of disease dependent on responsible allele, allelic heterogeneity, pleiotropy haemophilia A
• allelic heterogeneity, pleiotropy, more common in males haemophilia B

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