Marked Phenotypic Variability: Causes & Reasons

Possible Causes for Marked Phenotypic Variability

Developmental and Epileptic Encephalopathy Type 6

Summary Epidemiology Worldwide birth prevalence is thought to be Clinical description Onset of the first seizure is mainly in the 1st year of life (usually at 5-8 months of age) in previously healthy infants and most often consists of a unilateral or generalized, clonic seizure. Fever often triggers the seizures that[…] [orpha.net]

Camurati-Engelmann Syndrome

Radiographics 31:1865-82 (PMID: 22084176) [8] Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR (2004) Marked phenotypic variability in progressive diaphyseal dysplasia [eurorad.org]

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report... Personal Information [epos.myesr.org]

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1 [ghr.nlm.nih.gov]

Myopia Type 19

Prognosis and Management Just as Stargardt disease presents with marked phenotypic variability, its impact on visual function is highly variable as well. [aao.org]

Cone-Rod Dystrophy - Hearing Loss Type 2

Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome. Arch ophthalmol 2008; 126: 51-57. [medigraphic.com]

Myofibrillar Myopathy Type 5

Introduction Heterozygous defects in the human Filamin C gene (FLNC) located on chromosome 7q32.1 result in clinical forms of myopathy and cardiomyopathy with marked phenotypic [frontiersin.org]

variability (1, 2). [frontiersin.org]

Distal Arthrogryposis Type 2B2

Marked inter- and intrafamilial variability has been reported (summary by Daly et al., 2014). [ncbi.nlm.nih.gov]

For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see 108120. (618435) (Updated 05-Apr-2021) MalaCards organs/tissues related [malacards.org]

For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see 108120. [ncbi.nlm.nih.gov]

Osteogenesis Imperfecta Type 5

Genotype-phenotype correlations Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.−14C>T mutation in all patients Statistics [jmg.bmj.com]

Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, et al. (2013) Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T [journals.plos.org]

phenotypic variability despite the presence of the IFITM5 c.-14C > T mutation in all patients. [bmcmusculoskeletdisord.biomedcentral.com]

Late-Onset Pompe Disease

LOPD is likely underdiagnosed in neuromuscular clinics owing to the rarity of the condition and its marked phenotypic variability. [ncbi.nlm.nih.gov]

Aceruloplasminemia

Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability. Mov Disord 2008;23:751-5. [ Links ] 7. [scielo.isciii.es]

Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability. Mov Disord. 2008; 23 ( 5 ): 751-5 [ PubMed ] [ Google Scholar ] 2. [ncbi.nlm.nih.gov]

Vitreoretinochoroidopathy

CONCLUSION: ADVIRC is a slowly progressive vitreoretinal degeneration that demonstrates marked intra-familial phenotypic variability. [ncbi.nlm.nih.gov]

[…] intra-familial phenotypic variability. [sparrho.com]

ADVIRC is a slowly progressive distinct bestrophinopathy with marked intra-familial phenotypic variability. [nature.com]

Hereditary Proximal Myopathy with Early Respiratory Failure

The VCP gene has complete penetrance, although there is marked phenotypic variability across age groups. MYH2 penetrance is high for the recessive form of MYPOP. [invitae.com]

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]

Hypochondrogenesis

These findings suggest that hypochondrogenesis and achondrogenesis type II represent a spectrum with marked phenotypic variability. [ncbi.nlm.nih.gov]

Myotonia Levior

Thomsen pedigree P480L ) marked phenotypic variability within and between affected individuals and kindreds (e.g. [slideplayer.com]

[…] congenita (PMC) potassium-aggravated myotonia (PAM) AZM-responsive myotonia myotonia fluctuans and myotonia permanens hyperkalemic periodic paralysis (HyperPP) 4 Caveats marked [powershow.com]

phenotypic variability within and between affected individuals and kindreds (e.g. [slideplayer.com]

GM1 Gangliosidosis Type 1

There is marked phenotypic variability in the adult form and the age of death varies widely. [medresearch.in]

Marked phenotypic variability may occur. Age at death may widely vary. [emedicine.medscape.com]

Type 3 - Adult - Phenotypic variability is marked, but progressive development of neurologic sequelae usually leads to a shortened lifespan. [jennysgm1journey.org]

Fanconi-Bickel Syndrome

phenotypic variability with identical mutation. ( 27487919 ) Dweikat I.M....Sultan M.I. 2016 7 Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation. ( 27771652 [malacards.org]

Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation. BMC Res Notes. 2016;9(1):387. [springermedizin.de]

Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. ( 27617158 ) Afroze B....Chen M. 2016 6 Fanconi-Bickel syndrome in two Palestinian children: marked [malacards.org]

GTP Cyclohydrolase I Deficiency

We observed a marked intrafamilial phenotypic variability in GCH1 heterozygotes. Dystonia was present in 2 patients (IV:5 and IV:21). [jamanetwork.com]

Gangliosidosis

Marked phenotypic variability may occur. Age at death may widely vary. [omicsonline.org]

variability is marked, but progressive development of neurologic sequelae usually leads to a shortened lifespan. [1] Patient Education Families of patients with GM1 gangliosidosis [emedicine.medscape.com]

[…] the second year of life because of infection and cardiopulmonary failure. [1] Juvenile (type 2): Death usually occurs before the second decade of life. [1] Adult (type 3): Phenotypic [emedicine.medscape.com]

Fanconi-Like Syndrome

Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation. BMC Res Notes. 2016;9(1):387. [jmedicalcasereports.biomedcentral.com]

Tangier Disease

Phenotype Variability. ( 24196952 ) Kannenberg F....Walter M. 2013 16 Plasma amyloid-I^ in patients with Tangier disease. ( 23388172 ) Shahim P....Zetterberg H. 2013 17 Tangier [malacards.org]

Phenotype Variability. ( 24196952 ) Kannenberg F....Walter M. 2013 20 Plasma amyloid-I^ in patients with Tangier disease. ( 23388172 ) Shahim P....Zetterberg H. 2013 21 Tangier [malacards.org]

[…] of Tangier disease. ( 23351586 ) Negi S.I....Jones P.H. 2013 15 Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked [malacards.org]

Autosomal Dominant Spastic Paraplegia Type 10

The major features of HSP are a marked phenotypic variability both among and within families and an extended genetic heterogeneity. [read.qxmd.com]

GM1 Gangliosidosis

Marked phenotypic variability may occur. Age at death may widely vary. [emedicine.medscape.com]

GM1 gangliosidosis type 3 or Adult GM1 gangliosidosis: Phenotypic variability is marked, but progressive development of neurologic sequelae usually leads to a shortened lifespan [healthjade.net]

Achondrogenesis

These findings suggest that hypochondrogenesis and achondrogenesis type II represent a spectrum with marked phenotypic variability. [ncbi.nlm.nih.gov]

Early-Onset Generalized Torsion Dystonia

Even within the same family, there is marked phenotypic variability. [symptoma.com]

The phenotype is marked by onset in a limb, usually before 24 years of age, frequently spreading to other limbs, occasionally to the neck, and rarely to cranial muscles. [jmg.bmj.com]

However, a variable progression of dystonia was observed in familial cases, and atypical features such as blepharospasm may be the only sign. [jmg.bmj.com]

Leri-Weill Dyschondrosteosis

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin. J. genet. [medigraphic.com]

Heath, José Luis Gómez-Skarmeta & Elfride De Baere Scientific Reports (2016) Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic [nature.com]

variability and analysis of its molecular origin ANGELOS ALEXANDROU, IOANNIS PAPAEVRIPIDOU, KYRIAKOS TSANGARAS, IOANNA ALEXANDROU, MARIOS TRYFONIDIS, VIOLETTA CHRISTOPHIDOU-ANASTASIADOU [nature.com]

Triple A Syndrome

Here we present the clinical and molecular genetic data which demonstrated the marked phenotypic variability in three unrelated patients with triple A syndrome. [ncbi.nlm.nih.gov]

[…] gene on chromosome 12q13 in such patients. [3] Prpic et al (2003) demonstrated the marked phenotypic variability in three patients with genetically confirmed triple A syndrome [jfcmonline.com]

Allgrove's syndrome is considered an autosomal recessive disorder with variable presentations. [1], [2] Recent studies have identified mutation in the AAA syndrome of a candidate [jfcmonline.com]

Craniodiaphyseal Dysplasia

Pubmed Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR: Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann Disease): report of a [orthopaedicsone.com]

phenotypic variability has been reported TGF-beta1 signaling pathway is composed of 7 genes (106 single-nucleotide polymorphisms identified) TGF-beta1 gene TGF-beta type [orthopaedicsone.com]

[…] transition (40- 60 %) p.Arg218His c.653G>A transition p.Cys225Arg c.673T>C transition Genetic locus heterogeneity implied when no sequence alteration in TGFbeta-1 found Marked [orthopaedicsone.com]

Limb-Mammary Syndrome

It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. [ingentaconnect.com]

Loeys-Dietz Syndrome Type 2

CONCLUSION: We report two novel mutations in the TGFBR1 and TGFBR2 genes in two patients affected with LDS and showing marked phenotypic variability. [uniprot.org]

Conclusion We report two novel mutations in the TGFBR1 and TGFBR2 genes in two patients affected with LDS and showing marked phenotypic variability. [ojrd.biomedcentral.com]

Achalasia - Microcephaly Syndrome

Allgrove's syndrome is considered an autosomal recessive disorder with variable presentations. [1], [2] Recent studies have identified mutation in the AAA syndrome of a candidate [jfcmonline.com]