Clinical Variability: Causes & Reasons

Possible Causes for Clinical Variability

Autosomal Dominant Myosin Storage Myopathy

Cupler, E.J., 2003 : Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. [wwe.geoscience.net]

Pract. (1997) [ Pubmed ] Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. [wikigenes.org]

Neurology 61(11): 1519-1523 Objective: To report clinical, morphologic, and immunohistochemical studies on autosomal dominant, clinically nonprogressive, and not previously [wwe.geoscience.net]

Exudative Vitreoretinopathy Type 2

There is, however, considerable clinical variability, even within families, with some infants blind from birth whereas some (41%) adults have only areas of remaining avascularity [disorders.eyes.arizona.edu]

The disorder is clinically variable ranging from vision loss in childhood to fully intact visual capacity. [bioscientia-humangenetik.de]

Clinical Correlations: There is considerable clinical variability in the signs and symptoms, even within families. [disorders.eyes.arizona.edu]

Wiedemann-Rautenstrauch Syndrome

Steinmann B, Nicholls A, Pope FM (1986) Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the α1(I) collagen chain [doi.org]

Limb-Girdle Muscular Dystrophy Type 1F

A high degree of clinical variability with respect to age at onset, severity, and pattern of muscle involvement, both between and within families, is present. [scinapse.io]

Clinical variability in calpainopathy: What makes the difference? Eur J Hum Genet 2002;10:825-32. 51. Fulizio L, Nascimbeni AC, Spinazzi M, Piluso G, Ventriglia VM. [neurologyindia.com]

There is a significant variability of clinical features in unrelated patients and within families. [dmd.nl]

Popliteal Pterygium Syndrome

Clinical Case Reports 2(6): 250-253, 2014 [eurekamag.com]

Expressivity is variable. [uniprot.org]

[…] expression of the clinical manifestations of this syndrome. [eurekamag.com]

Renpenning Syndrome

Clinical description Renpenning syndrome is a rare variable condition characterized by intellectual disability, microcephaly, short stature and dysmorphic facial features [invitae.com]

In summary, it is difficult to diagnose intellectual disorders and other neurodevelopmental disorders in terms of genetic heterogeneity and clinical variability. [karger.com]

Penetrance Renpenning syndrome is highly penetrant with clinical variability. Carrier females are generally unaffected, although they may exhibit very mild symptoms. [invitae.com]

Exudative Vitreoretinopathy Type 1

Abstract Purpose : Familial exudative vitreoretinopathy (FEVR) is a vitreoretinal dystrophy which has multiple modes of inheritance and variable clinical expressions. [koreascience.or.kr]

clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. [ebi.ac.uk]

Exudative Vitreoretinopathy Type 4

The clinical course is variable, but the most severe forms may be active for life, with variable periods of quiescence(2). [aboonline.org.br]

The clinical appearance of FEVR tends to be asymmetric and vary significantly even among affected members of the same family. [eyewiki.aao.org]

Familial exudative vitreoretinopathy is a genetically heterogenous disorder that exhibits variable penetrance across patients. [eyewiki.aao.org]

Muscular Dystrophy-Dystroglycanopathy Type A12

clinical phenotype. 54 6 61 Vuillaumier-Barrot S...Seta N 19179078 2009 4 Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause [malacards.org]

[…] muscular dystrophies with variable neurological and ophthalmic involvement.1 Fukuyama congenital muscular dystrophy represents a continuum of phenotypes, starting from the [ncbi.nlm.nih.gov]

The clinical severity, age of onset, and disease progression are highly variable among the different forms of LGMD/CMD. [blueprintgenetics.com]

Congenital Adrenal Gland Hypoplasia

The three patient reports demonstrate variable clinical and biochemical features at presentation. They presented with adrenal crises at 3 years, 4 weeks, and 3 weeks. [degruyter.com]

One consequence of this multitude of mutations is that there is considerable variability in the clinical presentation of disease, ranging from severe salt-wasting or virilizing [vivo.colostate.edu]

Clinical Features Clinical symptomatology of nonclassic 21-hydroxylase deficiency is variable;symptoms may appear at any age (Fig. 4), and longitudinal follow-up shows they [glowm.com]

Chorea Acanthocytosis Syndrome

[…] presentation and course are highly variable.1 HD is caused by a CAG triplet expansion in the IT-15 gene encoding huntingtin.2 Approximately 1% of subjects with symptoms and [slideshare.net]

Mcleod syndrome patients may present a variable phenotype that clinically overlaps with limb girdle muscular dystrophy. Neuromuscular Disord 2005;15:691–691. 50. [tremorjournal.org]

[…] typically presents with a triad of movement disorder, cognitive dysfunction and behavioural problems, but the disease can arise in the absence of a family history and its clinical [slideshare.net]

22q11.2 Duplication Syndrome

Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families. [ghr.nlm.nih.gov]

Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008 Nov-Dec;51(6):501-10. doi: 10.1016/j.ejmg.2008.07.005. Epub 2008 Jul 29. [ghr.nlm.nih.gov]

2-Methylbutyryl-CoA Dehydrogenase Deficiency

Lehnert, W., 2002 : Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. [wwe.geoscience.net]

Aarskog-Scott Syndrome

Possibly, both the variability of phenotype and the genetic heterogeneity account for a clinical overdiagnosis. [doi.org]

Abstract We describe the Leuven experience with 52 males with Aarskog syndrome particularly with respect to clinical variability, changing phenotype with age, and previously [ncbi.nlm.nih.gov]

However, although inter- and intrafamilial variability occurs, mutated patients present with a more full clinical expression of the disease phenotype, with respect to nonmutated [doi.org]

Andersen-Tawil Syndrome

Diagnosis of ATS requires high index of suspicion because of a great variability in the clinical manifestation of the syndrome. [jpccr.eu]

Andersen Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004; 36 (Suppl. 1): 92–97. 9. Sansone V, Tawil R. [jpccr.eu]

Common Variable Immunodeficiency

BACKGROUND: Common variable immunodeficiency (CVID) is one of the most prevalent symptomatic primary immunodeficiencies (PIDs), which manifests a wide clinical variability [ncbi.nlm.nih.gov]

Screening for common variable immunodeficiency (CVID) Identifying defects in TACI and BAFF-R in patients presenting with clinical symptoms and other laboratory features consistent [mayomedicallaboratories.com]

To summarize the recent advancements in common variable immune deficiency (CVID), specifically CVID genetics, clinical discoveries and treatment implications. [ncbi.nlm.nih.gov]

Myosin Storage Myopathy

This report underlines the clinical variability of MSM even with a given mutation or in a same family. [ncbi.nlm.nih.gov]

This report underlines the clinical variability of MSM even with a given mutation or in a same family. https://www.hal.inserm.fr/inserm-00408773 Contributeur : Marie Francoise [hal.inserm.fr]

The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary [ncbi.nlm.nih.gov]

3q29 Microdeletion

The clinical phenotype is variable despite an almost identical deletion size. [neurodiversity.com]

variables associated with the biomaterials available through our 3q29 registry. [healio.com]

Bibtex @article{bb6e9f02c56c4fdd84ab1a2b188daa68, title = "3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome", abstract = "We report the [research.manchester.ac.uk]

Immunodeficiency Type 23

However, these additional features were absent in the third child, showing the clinical variability of the disease. [uniprot.org]

Branchio-Oculo-Facial Syndrome

This report confirms the involvement of this transcription factor in this developmental syndrome with clinical variability. [ncbi.nlm.nih.gov]

Tricho-Dento-Osseous Syndrome

It is not known whether the variable clinical features are the result of genetic heterogeneity or clinical variability. [jmg.bmj.com]

The specific aim of this investigation is to provide a detailed study of both the phenotype and genotype of TDO in four large families that displays clinical variability of [grantome.com]

The variable clinical phenotype observed in these North Carolina and Virginia families, which share a common gene mutation, suggests that clinical variability is not the result [jmg.bmj.com]

Beta-Mannosidosis

To understand the molecular basis of the human disease and the mechanisms for such clinical variability, we sequenced the entire coding region of the human beta-mannosidase [ncbi.nlm.nih.gov]

In human beta-mannosidosis, the clinical presentation is variable and can be mild, even when caused by functionally null mutations. [ncbi.nlm.nih.gov]

In addition, the phenotypic manifestation among the reported cases of human beta-mannosidosis is variable, even among members of the same family. [ncbi.nlm.nih.gov]

Pseudo-Hurler Polydystrophy

Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). Am J Med Genet 108:214–218, 2002. [link.springer.com]

Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy). Am J Med Genet 108:214–218, 2002. CrossRef PubMed Google Scholar 18. [link.springer.com]

Wolcott-Rallison Syndrome

The patient with no EIF2AK3 involvement did not have any of the other variable clinical manifestations associated with WRS, which supports the idea that the genetic heterogeneity [ncbi.nlm.nih.gov]

Wek, Cécile Julier1 - Show less +17 more•Institutions (10) TL;DR: The patient with no EIF2AK3 involvement did not have any of the other variable clinical manifestations associated [typeset.io]

Alone, the nature of the mutation thought to be responsible for the condition, is not enough to explain the clinical variability between patients. [villigervaluation.com]

Sarcotubular Myopathy

(redirected from sarcotubular myopathy ) limb girdle muscular dystrophy type 2H A clinically variable, autosomal recessive degenerative myopathy (OMIM:254110) characterised [medical-dictionary.thefreedictionary.com]

Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement [orpha.net]

clinical presentation. [sciencepop.org]

Limb-Girdle Muscular Dystrophy Type 2G

variability. [link.springer.com]

View Article PubMed PubMed Central Google Scholar Starling A, de Paula F, Silva H, Vainzof M, Zatz M: Calpainopathy: how broad is the spectrum of clinical variability?. [bmcclinpathol.biomedcentral.com]

Calpainopathy: how broad is the spectrum of clinical variability? J Mol Neurosci. 2003;21:233–236. doi: 10.1385/JMN:21:3:233. [ncbi.nlm.nih.gov]

Stickler Syndrome Type 5

Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. [ncbi.nlm.nih.gov]

AB - Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations [moh-it.pure.elsevier.com]

variable and genetically heterogeneous collagenopathy characterized by ophthalmic, auditory, skeletal, and orofacial abnormalities. [onlinelibrary.wiley.com]

XXXXY Syndrome

TY - JOUR T1 - Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. [unboundmedicine.com]

Clinical variability and novel neurodevelopmental findings in 49,XXXXY syndrome. Am J Med Genet 2010, 152A: 1523-1530. [DOI:10.1002/ajmg.a.33307] 4. [journals.ssu.ac.ir]

Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome. American Journal of Medical Genetics. [unboundmedicine.com]

Hemoglobin Lepore-Beta-Thalassemia Syndrome

In these individuals, striking features are clinical variability and different hematological pictures. [unboundmedicine.com]

Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency [malacards.org]

Autosomal Dominant Larsen Syndrome

variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. [genome.jp]

Differentiation between the recessive and the dominant form can be difficult because both show a wide clinical variability; however, the recessive form is generally more severe [accessanesthesiology.mhmedical.com]

Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus. Clin. Genet. 57: 148-150, 2000. Bicknell, L. [med2000eco.it]