Variable Phenotypic Expression: Causes & Reasons

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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]

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]

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]

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]

Axenfeld-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]

Expressions among Axenfeld- Rieger Syndrome Family Members Harboring Mutation in Same Genetic Loci.JCR [serial online] 2015[cited 2019 Feb 1];5:177-181. [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]

Distal Spinal Muscular Atrophy

Matters are complicated further by genetic heterogeneity (one phenotype can be caused by different genotypes) and variable expressivity (one gene can produce different phenotypes [tidsskriftet.no]

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]

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]

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]

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]

Hereditary Retinal Dystrophy

Abstract The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. [scielo.br]

Case Report Phenotypic expression variability in Best Disease: a purpose of a series of cases Variabilidade de expressão Fenotípica na Doença de Best: a propósito de uma série [scielo.br]

The main goal of the following project is to document the rare occurrences of phenotypic expression variability in Best Disease in first-degree relatives. [scielo.br]

Jalili Syndrome

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. [nature.com]

Oral-Facial-Digital Syndrome Type 6

Síndrome orofaciodigital tipo I: expresión fenotípica variable / Oro-facial-digital syndrome type I: phenotypic variable expression Boldrini, María Pía; Giovo, María Elsa; [pesquisa.bvsalud.org]

While the presence of other anomalies often makes it difficult to ascertain whether cases with unusual anomalies demonstrate variable expressivity or represent other conditions [hindawi.com]

Phenotypic overlap exists between the OFDS. OFDS type IV is also known as Baraitser-Burn syndrome (OMIM %258860) and as Mohr and Majewski syndrome [2]. [hindawi.com]

Stickler Syndrome

Variable phenotypic expression of Stickler syndrome occurs both within families and between families. [ibis-birthdefects.org]

Variable phenotypic expression of Stickler syndrome occurs both within and among families. [blueprintgenetics.com]

Interfamilial variability is in part explained by locus and allelic heterogeneity. The diagnosis of Stickler syndrome is clinically based. [ibis-birthdefects.org]

Van der Woude Syndrome Type 2

Although caused by a single gene mutation, Van der Woude syndrome has variable phenotypic expression. References Promoted articles (advertising) [radiopaedia.org]

The potential effects on unborn children are difficult to predict, due to variable phenotype expressivity, which may be of particular concern to parents. [medcraveonline.com]

The variability in phenotypic expression must be taken into account when diagnosing patients. [imedpub.com]

Stickler Syndrome Type 1

Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity [ncbi.nlm.nih.gov]

Stickler Syndrome Type 2

Variable phenotypic expression of Stickler syndrome occurs both within families and between families. [ibis-birthdefects.org]

Phenotypically, Stickler syndrome is a variably expressed disorder in which most patients present with a wide range of eye and extraocular manifestations including auditory [cags.org.ae]

Variable phenotypic expression of Stickler syndrome occurs both within and among families. [blueprintgenetics.com]

Mandibulofacial Dysostosis Syndrome Bauru Type

phenotypic expression. [herbal-organic.com]

Because of the wide variability of expression, an accurate prediction of a child’s phenotype is difficult to infer from the status of the parent. [radiologykey.com]

[…] receptor type A gene (Ednra c.386A>T, Treacher Collins syndrome (also called mandibulofacial dysostosis) is a rare congenital disorder of craniofacial development that has variable [herbal-organic.com]

Kallmann Syndrome

These genotype-phenotype correlations indicate that paediatric phenotypic expression of FGFR1 loss of function mutations is highly variable, the severity of the oro-facial [ncbi.nlm.nih.gov]

"Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory". [en.wikipedia.org]

We found de novo mutation in these two patients (Cys178Ser and Arg622Gly, respectively), and one inherited Arg622Gln mutation with intrafamilial variable phenotype. [ncbi.nlm.nih.gov]

Muckle-Wells Syndrome

phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome, J Rheumatol, 2005, vol. 32 (pg. 747 - 51 [rheumatology.oxfordjournals.org]

[…] syndrome, Nat Genet, 2001, vol. 29 (pg. 301 - 5 ) 3 A cryopyrin-associated periodic syndrome with joint destruction, Rheumatology, 2007, vol. 46 (pg. 709 - 14 ) 4 Intrafamilial variable [rheumatology.oxfordjournals.org]

Adult-Onset Foveomacular Vitelliform Dystrophy

Abstract The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. [scielo.br]

Variabilidade de expressão Fenotípica na Doença de Best: a propósito de uma série de casos Phenotypic expression variability in Best Disease: a purpose of a series of cases [sboportal.org.br]

Case Report Phenotypic expression variability in Best Disease: a purpose of a series of cases Variabilidade de expressão Fenotípica na Doença de Best: a propósito de uma série [scielo.br]

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]

Stickler Syndrome Type 4

Variable phenotypic expression of Stickler syndrome occurs both within families and between families. [ibis-birthdefects.org]

Variable phenotypic expression of Stickler syndrome occurs both within and among families. [blueprintgenetics.com]

Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity [ncbi.nlm.nih.gov]

Brachydactyly Type E

phenotypic expression. 4 The family that we present here has a nonsense mutation in the region that codes for the active domain of the protein, resulting in the elimination [analesdepediatria.elsevier.es]

[…] mutations associated with BDC are frameshift mutations in the prodomain part of the gene, while most mutations in the mature domain are missense mutations, with a highly variable [analesdepediatria.elsevier.es]

Oculodentodigital Dysplasia

These findings confirm once again the highly variable phenotypic expression caused by Cx43 mutations. [ncbi.nlm.nih.gov]

[…] a variable expression of neurologic manifestations in multiple generations ranging from a mild spastic gait to moderate to severe spastic tetraparesis/quadriplegia with epilepsy [ncbi.nlm.nih.gov]

We report a 4-generation Hispanic family with oculodentodigital dysplasia whose members were found to have typical phenotypic characteristics of this disorder, as well as [ncbi.nlm.nih.gov]

Distal Myopathy Type 1

Two novel MYH7 proline substitutions cause Laing distal myopathy-like phenotypes with variable expressivity and neck extensor contracture. BMC Med Genet. 2016;17:57. [ncbi.nlm.nih.gov]

Adenylosuccinate Lyase Deficiency

However, intrafamilial variable expression of the phenotype has not been documented to date in this disease and is not commonly observed in metabolic disorders. [ncbi.nlm.nih.gov]

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. [rarediseases.org]

(PMID: 16973378) Lee P … Colman RF (Protein expression and purification 2007) 3 4 22 60 Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency [genecards.org]

Isolated Autosomal Dominant Preauricular Tag 1

Abstract We report on a novel autosomal dominant disorder with variable phenotypic expression in a three-generation family; the major features include hypertelorism, preauricular [ncbi.nlm.nih.gov]

We report on a novel autosomal dominant disorder with variable phenotypic expression in a three-generation family; the major features include hypertelorism, preauricular sinus [pubfacts.com]

TCS is inherited in an autosomal dominant fashion with variable penetrance and phenotypic expression. It occurs in approximately 1 in 50,000 births. [ajnr.org]

DiGeorge Syndrome

It has a variable phenotypical expression, requiring a high level of awareness for its early diagnosis. [ncbi.nlm.nih.gov]

Conclusion Chromosome 22q11.2 deletion syndrome has a variable phenotypic expression. [ncbi.nlm.nih.gov]

CONCLUSION: Microdeletion of chromosome 22q11.2 is among the most clinically variable syndromes, with more than 180 features associated with the deletion. [ncbi.nlm.nih.gov]