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13 Possible Causes for Interfamilial and Intrafamilial Clinical Heterogeneity

  • Hereditary Spastic Paraplegia

    Hereditary spastic paraplegias are a genetically heterogeneous group of diseases. Recent advances concerning their nosology and molecular bases have greatly improved the genetic diagnosis of these diseases, with implications for genetic counselling. The recent identification of new genes and loci, however, has[…][]

  • Pseudoxanthoma Elasticum

    The definitive diagnosis of PXE is often hampered by extensive intrafamilial and interfamilial clinical heterogeneity ( 2 , 5 ).[] The definitive diagnosis of PXE is often hampered by extensive intrafamilial and interfamilial clinical heterogeneity ( 2, 5 ).[]

  • Limb-Girdle Muscular Dystrophy

    ; Intrafamilial may be homogeneous or heterogeneous Gypsies with C283Y mutation Early Duchenne-like course but longer survival (50%) Becker phenotype (13%) Overall: More severe[] […] features Severity Some with Duchenne-like course Others intermediate between Duchenne & Becker phenotype Mild Becker phenotype in occasional family Variable: Interfamilial[] Skin, Spinal cord & Olfactory bulb Weakly: Cerebrum & Aorta Sarcoglycan binding: Moderately to β-sarcoglycan Homologous sarcoglycan: δ-sarcoglycan See: Sarcoglycan complex Clinical[]

  • Hereditary Multiple Exostoses

    Further allelic heterogeneity of EXT2 was demonstrated by the intrafamilial and interfamilial variability in clinical phenotype.[]

  • Marchesani-Weill Syndrome

    clinical heterogeneity at the fibrillin-1 locus is even reinforced by a striking intrafamilial variability, as two patients with Marfan syndrome had children suffering from[] […] one patient with Shprintzen-Goldberg syndrome, 18 although another missense mutation in a second patient was shown to be a polymorphism in subsequent papers. 29, 30 This interfamilial[]

  • Noonan Syndrome

    Noonan syndrome is clinically heterogeneous with significant interfamilial and intrafamilial variable expression.[]

  • Cranioectodermal Dysplasia

    The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences.[] Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease.[]

  • Joubert Syndrome Type 17

    It is apparent that JS is a clinically heterogeneous entity and that both intrafamilial and interfamilial variation exists.[]

  • Familial Cerebral Cavernous Malformation

    As stated above, familial CCM is very heterogeneous, with a significant interfamilial and intrafamilial variability.[] Of the different clinical presentations, seizures are the most frequent [ 8 ], and they can be generalized, partial, or both types, as in our family.[]

  • Familial Hypertrophic Cardiomyopathy Type 21

    […] diagnosed cases of HCM, whereas other genes account for [2] Clinically, HCM is a highly heterogeneous disease with not only considerable interfamilial, but also intrafamilial[] […] are positive for genetic tests carry mutations in β-myosin heavy chain ( MYH7 ) and myosin-binding protein C ( MYBPC3 ) genes; these 2 genes account for up to 50% of all clinically[]

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