Possible Causes for variable phenotypic expression Familial Hyperaldosteronism Type 1 ATUALIZAÇÃO Glucocorticoid-remediable aldosteronism Aldosteronismo remediável por glicocorticóide Graham T. McMahon; Robert G. Dluhy Division of Endocrinology, Diabetes & Hypertension, Brigham & Women's Hospital & Harvard Medical School, Boston, Massachusetts, USA Correspondence ABSTRACT Glucocorticoid-remediable[…] [doi.org] Shwachman Syndrome expression. [care.diabetesjournals.org] Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996;111:1593-602. 09. [signavitae.com] Arch Dis Child 55 : 331 –347, 1980 Mack DR, Forstner GG, Wilschanski M, Freedman MH, Durie PR: Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic [care.diabetesjournals.org] Craniodiaphyseal Dysplasia phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. [orpha.net] Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the [monarchinitiative.org] Homepage Rare diseases Search Search for a rare disease Craniodiaphyseal dysplasia Disease definition Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable [orpha.net] Branchio-Oculo-Facial Syndrome We report a family with BOFS affecting the mother and two daughters, showing the dominant inheritance and variable phenotypical expression of BOFS. [scinapse.io] We report three members of one family, showing great variability in its phenotypic expression and review the recent literature. [ncbi.nlm.nih.gov] While documented patients of BOFS report wide variability in phenotype expressivity, patients typically demonstrate cervical or infra-auricular anomalies, diverse ocular malformations [ncbi.nlm.nih.gov] Acne Vulgaris Variable expression of 5 alpha-reductase deficiency: presentation with male phenotype in a child of Greek origin. [doi.org] Hypogonadism Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory. [eje.bioscientifica.com] "Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory". [en.wikipedia.org] Ring Chromosome 7 Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet 1973; 12:40-8. Nakano S, Miyamoto N. [medigraphic.com] Zackai EH, Breg WR (1973) Ring chromosome 7 with variable phenotypic expression. [link.springer.com] phenotypic expression. ( 4145271 ) Zackai E.H....Breg W.R. 1973 [malacards.org] Fracture Phenotypic expression of the disease depends on the nature of the mutation, its relative abundance attributable to mosaicism, and its expression in target tissues. 55 Some [pediatrics.aappublications.org] In addition, the presentation of the disease within affected members of the same family can be quite variable. [pediatrics.aappublications.org] Restless Legs Syndrome Restless legs syndrome significantly aggregated in families with variable phenotypic expressivity, and the siblings of severely affected individuals have an increased risk [ncbi.nlm.nih.gov] Conclusions Restless legs syndrome significantly aggregated in families with variable phenotypic expressivity, and the siblings of severely affected individuals have an increased [doi.org] […] signs is due to variable expressivity. [doi.org] Ulnar Mammary Syndrome It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. [ncbi.nlm.nih.gov] This report provides additional evidence in support of the rich variability in phenotypic expression, the mutational heterogeneity and ethnic diversity associated with this [ncbi.nlm.nih.gov] Alveolar Capillary Dysplasia phenotypic expression. [karger.com] phenotypic expression. 56 Boggs S...Ruchelli E 8283361 1994 10 Late presentation of misalignment of lung vessels with alveolar capillary dysplasia. 56 Abdallah HI...Marks [malacards.org] Harris MC, Hoffman DJ, Goel R, McDonald-McGinn D, Langston C, Zackai E, Ruchelli E: Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable [karger.com] Geographic Tongue Most forms of the disease show incomplete penetrance of the phenotype and variable expressivity of bleeding symptoms within families. [53] In contrast, the severe type 3 form [doi.org] […] of the disease, the study of heritability might determine how much the phenotype variability of these diseases is due to the genotype or to the environment. [ncbi.nlm.nih.gov] […] factors necessary to develop the disease.16 BMG, disease associated to PS, is also a multifactorial disease.17 Considering that environmental factors may be important in the expression [ncbi.nlm.nih.gov] Neuropathy Each HSAN disorder is likely caused by different genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression [ncbi.nlm.nih.gov] Factor V Deficiency Congenital factor V deficiency is a rare bleeding disorder characterized by low coagulant activity, associated with variable phenotypic expression. [ncbi.nlm.nih.gov] While the reasons for this variable phenotypic expression are largely unknown, several observations from different laboratories indicate platelets as crucial players in FV [ncbi.nlm.nih.gov] FV deficiency is a rare autosomal recessive bleeding disorder with variable phenotypic expression. Thus, our study reports 39 patients with FV deficiency. [ncbi.nlm.nih.gov] Anorchia Embryonic testicular regression syndrome: Variable phenotypic expression in siblings. J Pediatr 1980;97:200-4. 4. [journal-ina.com] Polycystic Ovary Syndrome Further, two or more phenotypes can be present in the same family suggesting some of these phenotypic differences reflect variable expression and/or penetrance of the same [nature.com] Hyponatremia This variety of mutations results in highly variable clinical expressivity and in a great number of compound heterozygous genotypes. [ojrd.biomedcentral.com] […] modulate the hypophosphatasia phenotype (modifier genes). [ojrd.biomedcentral.com] expression of the disease in heterozygotes, the probable effect of ALPL gene polymorphisms, and the possible effect of mutations and polymorphisms of other genes that may [ojrd.biomedcentral.com] Talipes Cavus Our ability to relate the different forms of these genes to their variable phenotypic expression is still limited, although mRNA levels of some lipid metabolism genes in skin [acnr.co.uk] Cardiac Arrhythmia Similar to many Mendelian disorders, the cardiac "channelopathies" exhibit incomplete penetrance, variable expressivity, and phenotypic overlap, whereby genotype-positive [ncbi.nlm.nih.gov] These observations raise the possibility that genetic variants in sodium channel expression may, in some populations, account for a significant portion of the phenotypic variability [doi.org] Staphylococcus Aureus Phenotypic expression of methicillin resistance is variable, and each MRSA strain has a characteristic profile of the proportion of bacterial cells that grow at specific concentrations [jci.org] Nevertheless, previous reports suggested that phenotypic methods of identification have drawbacks due to the variability in expression of phenotypic characterization by isolates [intechopen.com] Osteopathia Striata Savarirayan R et al. (1997) Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family. [ ] 8. [moldiag.com] phenotypic expression within a family. ( 9383023 ) Savarirayan R....Couper R. 1997 31 Osteopathia striata with cranial sclerosis: variable expressivity in a four generation [malacards.org] König R et al. (1996) Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree. [ ] 6. [moldiag.com] Bidirectional Tachycardia The mutation also carries high degree of variable phenotypic expression and incomplete penetrance, with as much as 20% mutation positive carriers being asymptomatic [9]. [ncbi.nlm.nih.gov] Rieger Syndrome Variable Phenotype Expressions among Axenfeld- Rieger Syndrome Family Members Harboring Mutation in Same Genetic Loci Gautam Lokdarshi, Bhagabat Nayak, Anuradha Chandra Dr [casereports.in] Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. [ncbi.nlm.nih.gov] Hypercholesterolemia We’ve come to understand that the phenotypic expression of the disease, in other words how high the LDL is, or whether the person has vascular disease at a young age, or has [education.questdiagnostics.com] INTERACTIONS The phenotypic expression of heterozygous FH is quite variable, and at least part of this variation is due to the underlying molecular heterogeneity of the disease [academic.oup.com] […] xanthomas, is variable. [education.questdiagnostics.com] Heart Failure Hypertrophic cardiomyopathy (HCM) is a primary autosomal-dominant disorder of the myocardium with variable expressivity and penetrance. [ncbi.nlm.nih.gov] In these cases, a more severe HCM phenotype is generally seen. Here, we report a case of HCM that was diagnosed clinically at 39 years of age. [ncbi.nlm.nih.gov] Cardiomyopathy variable penetrance and expressivity. [ncbi.nlm.nih.gov] Wide variation exists in the phenotypic expression of a given mutation of a given gene, with variability in clinical symptoms and the degree of hypertrophy expressed. [emedicine.com] Analysis of data from 51 individuals demonstrated the previously undescribed variant p.Cys81Stop (c.243_251delCTTGATGCG) in DSP segregates with a pathogenic phenotype exhibiting [ncbi.nlm.nih.gov] Axenfeld-Rieger Syndrome Type 3 Variable Phenotype Expressions among Axenfeld- Rieger Syndrome Family Members Harboring Mutation in Same Genetic Loci Gautam Lokdarshi, Bhagabat Nayak, Anuradha Chandra Dr [casereports.in] The ASDAs are characterized by marked phenotypic and genetic heterogeneity and by variability in expression. [glaucomatoday.com] expressivity. [scielo.br] Diabetes Mellitus Type 2 Sex-linked interactions Sex-linked inheritance (gonosomal loci) Sex-limited phenotype expression (e.g., cryptorchism) Inheritance through the maternal line (in case of mitochondrial [en.wikipedia.org] Coincidental and environmental interactions Penetrance Complete Incomplete (percentual number) Expressivity Invariable Variable Heritability (in polygenetic and sometimes [en.wikipedia.org] Florid Cemento-Osseous Dysplasia The mode of transmission appears to be autosomal dominant with variable phenotypic expression. [ncbi.nlm.nih.gov] Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy (HCM) is a primary autosomal-dominant disorder of the myocardium with variable expressivity and penetrance. [ncbi.nlm.nih.gov] Wide variation exists in the phenotypic expression of a given mutation of a given gene, with variability in clinical symptoms and the degree of hypertrophy expressed. [emedicine.com] In these cases, a more severe HCM phenotype is generally seen. Here, we report a case of HCM that was diagnosed clinically at 39 years of age. [ncbi.nlm.nih.gov]
