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457 Possible Causes for High Inter- and Intrafamiliar Variability of Phenotype, Mostly Sporadic, Rarely Somatic and Germline Mosaicism, Sensorineural Hearing Loss Associated with ELSTs

Did you mean: High Inter- and Intrafamiliar Variability of Phenotype, Mostly Sporadic, Rarely, Somatic, and Germline Mosaicism, Sensorineural Hearing Loss Associated with ELSTs

  • Von Hippel-Lindau Disease

    They can occur sporadically or as a component tumor of von Hippel-Lindau (VHL) disease, an autosomal dominant tumor syndrome.[ncbi.nlm.nih.gov] VHL is caused by dominant inherited or de novo germline mutations, while SWS is caused by somatic mosaicism.[ncbi.nlm.nih.gov] ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] We compiled a comprehensive mutation table of 1,548 germline and somatic VHL mutations, derived from this protein of only 213 amino acids.[ncbi.nlm.nih.gov]

  • Costello Syndrome

    Here, we describe a boy with somatic mosaicism for the c.34G   A mutation in HRAS.[ncbi.nlm.nih.gov] Somatic KRAS and HRAS mutations occur with comparable frequency in isolated malignancies.[ncbi.nlm.nih.gov] A single patient with somatic mosaicism for a Costello syndrome causing HRAS mutation has been reported.[ncbi.nlm.nih.gov] In the majority of affected individuals pathogenic sequence changes appeared de novo, however, two individuals with somatic mosaicism for the HRAS mutation have been reported[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Russell-Silver Syndrome

    Cases of Russell-Silver syndrome are mostly sporadic, that is, the disorder may appear in people with no known history of the disease in the family.[symptoma.com] […] study, we first demonstrated that the GRB10 gene is also monoallelically expressed in human fetal brain tissues and is transcribed from the maternally derived allele in somatic-cell[ncbi.nlm.nih.gov] We also identified other transcription units from this immediate region, but all seem to be biallelically expressed when using a somatic cell hybrid assay.[ncbi.nlm.nih.gov] Apostolidou S, Stanier P, Preece MA, Eggermann T, Kalscheuer VM, Moore GE: Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic[doi.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Facial Hemiatrophy

    Management of PFH comprises a long term follow-up of somatic disorders, and prevention of psychological problems.[ncbi.nlm.nih.gov] Disorders caused by somatic mutations will not be passed on to children unless the somatic mutation is also in the sperm or egg which would not be expected in Parry Romberg[rarediseases.org] There is also a need for follow up in a long term process for disorders which are regarding the somatic form and preventing the problems that regards the psychological aspect[syndromespedia.com] It is not known whether Parry Romberg syndrome is caused by a somatic mutation but it is another hypothesis.[rarediseases.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Sotos Syndrome

    The authors suggest that, analogous to phosphatase and tensin homolog mutations, STK11 mutations may predispose to somatic overgrowth.[ncbi.nlm.nih.gov] The phenotype is remarkably opposite to that of Sotos syndrome, suggesting a role for NSD1 in the regulation of somatic growth in humans.[ncbi.nlm.nih.gov] Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth.[ncbi.nlm.nih.gov] In accordance with interrelationships between tumour predisposition and somatic overgrowth, the authors present a boy with a familial serine threonine kinase 11 (STK11) mutation[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Poland Syndrome

    […] journal.pone.0025590 View Article PubMed PubMed Central Google Scholar Li R, Montpetit A, Rousseau M, Wu SYM, Greenwood CMT, Spector TD, Pollak M, Polychronakos C, Richards JB: Somatic[bmcmedgenet.biomedcentral.com] […] monozygotic twins has already been reported and attributed to different patterns of X chromosome inactivation, epigenetic mechanisms involving differences in methylation patterns, somatic[bmcmedgenet.biomedcentral.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Lynch Syndrome

    However, the loss of expression of the MLH1 gene, mostly in sporadic MSI cases, can be genetic or epigenetic.[doi.org] However, somatic BRAF mutation may also be present in the tumours in families with a predisposition to develop serrated polyps in the colorectum.[ncbi.nlm.nih.gov] By contrast, tumors arising in CMMR-D patients are thought to display a somatic mutation pattern differing from LS.[ncbi.nlm.nih.gov] Somatic variant frequencies were compared using the Fisher exact test.[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Panic Attacks

    My intake was sporadic, and mostly restricted to weekends. I had never been much of a partier before this period in my early thirties.[abcnews.go.com] […] determine the prevalence of olfactory-triggered panic attacks as well as certain characteristics of the episodes, including trigger (i.e. type of odor), frequency, length, somatic[ncbi.nlm.nih.gov] For different subsets of CCK-4-induced symptoms, the traits of physical aggression, irritability, somatic anxiety and stress susceptibility also appeared related to panic[ncbi.nlm.nih.gov] A mutual psychosomatic short-circuit between body and psyche, in which terror reinforces the somatic reactions and the psychic construction, is established.[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Proteus Syndrome

    According to a few journal articles, KTS mostly occurs sporadically, with only rare cases of familial background, manifesting different types of anomalies, if any, among family[doi.org] The Proteus syndrome is caused by a somatic activating mutation in AKT1, proving the hypothesis of somatic mosaicism and implicating activation of the PI3K-AKT pathway in[ncbi.nlm.nih.gov] […] occurrence. 10 DISCUSSION Proteus syndrome is mostly characterized by a postnatal asymmetric overgrowth that might affect many tissues, and it is barely noticeable at birth[scielo.br] The most plausible is Happle's somatic mosaic hypothesis, but no somatic mutations in candidate genes have been reported to be clearly involved in Proteus syndrome.[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Blue Rubber Bleb Nevus Syndrome

    The disorder affects both sexes equally and the occurrence is mostly sporadic except for a few reports of cases with autosomal dominant inheritance pattern.[ncbi.nlm.nih.gov] ) mutations, that is, two somatic mutations on the same allele of the gene.[ncbi.nlm.nih.gov] BRBNS cases are mostly sporadic; familial cases have been described with linkage to chromosome 9p.[n.neurology.org] Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. J Invest Dermatol 2017 01 9;137(1):207-216. Epub 2016 Aug 9.[pubfacts.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs

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