• By studying a cohort of ApoB R3500Q heterozygotes and homozygotes, we aimed to characterize the biochemical and cardiac imaging features in children and young adults with a common genetic background and similar lifestyle. (clinicforspecialchildren.org)
  • Homozygotes and heterozygotes may show increased susceptibility to meningococcal infections. (findzebra.com)
  • A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). (nih.gov)
  • Two autosomal recessive syndromes involving DNA repair indicate some interaction between the immune system and neurologic function. (medscape.com)
  • Nijmegen breakage syndrome (NBS) is also an autosomal recessive chromosomal instability syndrome. (medscape.com)
  • Smith-Lemli-Opitz (SLOS) or RSH syndrome (MIM 270400) comprises multiple congenital anomalies, mental retardation and an autosomal recessive inborn error of cholesterol metabolism. (scielo.br)
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator ( AIRE) gene. (biomedcentral.com)
  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) [MIM 240300], also known as autoimmune polyglandular syndrome type 1 (APS-1), is a rare autosomal-recessive systemic autoimmune disease often appearing early in life, typically in infants at 3-5 years of age [ 1 ]. (biomedcentral.com)
  • Waardenburg syndrome type IV is autosomal recessive with variable penetrance and is due to SOX10 or endothelin-B receptor (EDNRB) gene mutations, which appear to correlate with the intestinal and/or neurological symptoms manifested in patients. (medscape.com)
  • Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. (nih.gov)
  • Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. (nih.gov)
  • At diagnosis, homozygotes for this mutation (n=12) tended to have higher homocysteine levels than those seen in patients with other genotypes (n=17), but similar clinical manifestations. (nih.gov)
  • Because a major loss or dysfunction of T cells can cause secondary B-cell deficiency, numerous disorders have clinical manifestations of combined B-cell and T-cell deficiency, although the only pathology is in the T cell. (medscape.com)
  • In other B-cell and T-cell disorders, additional anomalies may predominate, and clinical manifestations suggestive of immunodeficiency may occur late in life. (medscape.com)
  • Mucosal candidiasis, Addison's disease and hypoparathyroidism were the most common clinical manifestations in these patients. (biomedcentral.com)
  • Not every case expresses all clinical manifestations of the complete Waardenburg syndrome, and forme fruste conditions are commonly observed. (medscape.com)
  • Age of onset and clinical manifestations may vary widely among patients with a given lysosomal storage disease, and significant phenotypic heterogeneity between family members carrying identical mutations has been reported. (medscape.com)
  • Enzyme replacement therapy (ERT) appears safe and effective for peripheral manifestations in patients with Gaucher disease types I and III, Fabry disease, mucopolysaccharidosis I (Hurler, Hurler-Scheie, and Scheie syndromes), mucopolysaccharidosis II (Hunter syndrome), mucopolysaccharidosis VI (Maroteaux-Lamy syndrome), and Pompe disease. (medscape.com)
  • Familial Mediterranean fever, children, abdominal and digestive system manifestations, clinical and genetic characteristics. (pdfslide.net)
  • Ataxialike disorder (ATLD) syndrome involves a mutation in meiotic recombination 11 homolog (MRE11). (medscape.com)
  • The primary defect in Dubin-Johnson syndrome is a mutation in an apical canalicular membrane protein responsible for the excretion of bilirubin and other nonbile salt organic anions. (medscape.com)
  • 12 cases had frameshift mutation (the frameshift mutation group, group F), and 15 cases had point mutation (the point mutation group, group P). The clinical features of the two groups were compared, including age at onset, gaze qualities, optic atrophy, optic canal stenosis and waveforms of Flash visual-evoked potential (FVEP). (bmj.com)
  • Clinical features the diagnosis and general measures the spectral gradient of mm hg decrease in the context of the prothrombin gene mutation studies not possible and if there is now recommended as second-line treatments and supportive therapy is believed to be noted. (elastizell.com)
  • Mutation analysis of the TBCE gene of this syndrome was shown to be due to Polymerase chain reaction/single-strand mutations in the TBCE gene in chromosom- conformation polymorphism analysis and al area 1q42-q43 [ 4,5 ]. (who.int)
  • Omenn syndrome is the result of mutations in the genes coding for recombinases (recombination activating genes). (medscape.com)
  • These 2 syndromes, AT and NBS, are part of a family of mutations involving proteins involved in DNA repair. (medscape.com)
  • Hereditary non-polyposis colorectal cancer is a cancer predisposition syndrome known to be caused by heterozygous germline mutations in DNA mismatch repair genes (MMR) most commonly hMLH1, hMSH2, hMSH6. (sagepub.com)
  • Comparative gene mapping among human, murine, and canine genomes have the potential to rapidly identify mutations that underlie various disease syndromes. (stanford.edu)
  • Clinical symptoms and biochemical parameters were recorded at diagnosis and during long-term follow-up. (nih.gov)
  • Both sexes are affected equally, with the diagnosis usually made in children between the ages of 5 and 15 years who present with nonspecific findings such as hematuria, proteinuria, acute nephritic syndrome, or nephrotic syndrome. (findzebra.com)
  • Waardenburg syndrome is a rare disease with an autosomal dominant mode of inheritance. (medscape.com)
  • In consequence, there is an enrichment of 36 specific Mendelian genetic diseases such as congenital nephrotic syndrome, Finnish type (CNF) 8 in certain areas of Finland today that show mostly recessive inheritance. (nature.com)
  • The frequency of the C282Y variant averages 7% in Northern European and North American White populations, resulting in a 0.5% frequency of homozygotes (of whom 38-50% will develop biochemical evidence of iron overload but only 28% of men and 1% of women will develop clinical symptoms). (mhmedical.com)
  • The prevalence of clinical symptoms and genetic profile were obtained, and then the phenotypic comparison between Asians versus non-Asians and 129Met/Met versus 129Met/Val were conducted. (bmj.com)
  • The feature set of patients included imaging characteristics, demographic information, clinical symptoms, microbiological findings, and serum inflammatory markers, which were reduced by the Principal Component Analysis. (bvsalud.org)
  • Acetazolamide is in a phase 3 clinical trial for the treatment of neurological symptoms and Epalrestat is in a phase 2 clinical trial to examine its ability to indirectly increase PMM2 activity, but no cure is currently available 16,17 . (cdghub.com)
  • We investigated the molecular basis of CBS deficiency in 29 Dutch patients from 21 unrelated pedigrees and studied the possibility of a genotype-phenotype relationship with regard to biochemical and clinical expression and response to homocysteine-lowering treatment. (nih.gov)
  • See Omenn Syndrome and Purine Nucleoside Phosphorylase Deficiency for a discussion of other forms of SCID. (medscape.com)
  • Protein C may become an acquired deficiency in liver disease, sepsis, DIC, acute respiratory distress syndrome, and after surgery. (unboundmedicine.com)
  • High serum ferritin levels are seen in hyperferritinemia cataract syndrome associated with pathogenic variants in the FTL (ferritin L-chain) gene. (mhmedical.com)
  • A third gene variant (S65C) may lead to increased serum iron and ferritin levels without clinical significance (type 1c). (mhmedical.com)
  • In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
  • In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
  • People with a variant in both copies of the MSTN gene in each cell (homozygotes) have significantly increased muscle mass and strength. (medlineplus.gov)
  • Subgroup analysis indicated the prevalence of ferritin light-chain gene -3381GG homozygotes was increased in patients with ARDS of extrapulmonary origin compared to healthy control subjects. (ox.ac.uk)
  • CONCLUSIONS: These results provide preliminary evidence to suggest a distinction in the genetic background of the subpopulations studied, inferring that the ferritin light-chain gene genotype confers susceptibility to ARDS, while the heme oxygenase 2 haplotype is protective against the onset of the syndrome. (ox.ac.uk)
  • PMID 18071340 ] Association between polymorphisms in the Clock gene, obesity and the metabolic syndrome in man. (snpedia.com)
  • In the case of a recessive disease, if one abnormal gene is inherited, the child will not show clinical disease, but they will pass the abnormal gene to 50% (on average) of their offspring. (health.am)
  • Genes responsible for syndromic forms of hearing loss in Waardenburg syndrome include PAX3 on band 2q37, observed in types I and III, and MITF mapped on 3p12-p 14.1 for type II. (medscape.com)
  • Patients with Dubin-Johnson syndrome tend to have unique findings on hepatobiliary scintigraphy scans, demonstrating a combination of intense and prolonged visualization of the liver and delayed or failed visualization of the gallbladder. (medscape.com)
  • Over time, findings include: poor growth, osteoporosis, involvement of the lungs (progressive interstitial changes, pulmonary alveolar proteinosis) and of the kidneys (progressive glomerular and proximal tubular disease), hematologic abnormalities (normochromic or hypochromic anemia, leukopenia, thrombocytopenia, erythroblastophagocytosis in the bone marrow aspirate), and a clinical presentation resembling the hemophagocytic lymphohistiocytosis/macrophagic activation syndrome. (nih.gov)
  • The first priority is to avoid short-bowel syndromes is indicated by findings in adrenal hemorrhage, neuroblastoma, meconium peritonitis, and hepatopulmonary syndrome intrapulmonary right to left ventricular dysfunction, neither coronary angioplasty or surgery. (elastizell.com)
  • The women included in groups 1, 2 and 3 were patients from the Department of Oncogenetics of the Barretos Cancer Hospital who had undergone genetic testing because of a clinical suspicion of hereditary predisposition syndrome. (biomedcentral.com)
  • Results The clinical signs, except age at onset and FVEP, showed statistically significant differences between the two groups. (bmj.com)
  • Compared to T/T homozygotes, carriers of the C allele had a similar degree of severity of depression, but showed higher activity levels in the evening, a delayed sleep onset (mean 79 min later), and a reduced amount of sleep during the night (mean 75 min less). (snpedia.com)
  • In the rare disease erythropoietic protoporphyria , haploinsufficiency for ferrochelatase ( FECH ) contributes to the clinical phenotype but is not the only reason for the disease expression. (dorak.info)
  • Vingt six sujets drepanocytaires homozygotes porteurs d'une rate volumineuse ont ete traites avec le Piracetam associe a la Quinine administres par voie orale pendant 35 semaines. (bvsalud.org)
  • Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry 2022 8 25 (4): 544-552. (cdc.gov)
  • 01). This intervention in Dutch patients significantly reduces the risk of cardiovascular disease and other sequelae of classical homocystinuria syndrome. (nih.gov)
  • Male patients with thrombocytopenia and eczema may have Wiskott-Aldrich syndrome with defective T-cell function and resultant recurrent infections. (medscape.com)
  • Patients with Dubin-Johnson syndrome tend to develop nonpruritic jaundice during their teenaged years. (medscape.com)
  • Hepatosplenomegaly also occurs in some patients, but in most cases, Dubin-Johnson syndrome is asymptomatic. (medscape.com)
  • Dubin-Johnson syndrome is a benign disorder that requires no specific therapy, although patients should be warned that pregnancy, oral contraceptive use, administration of estrogens as a component of gender reassignment, and intercurrent illnesses can exacerbate the associated jaundice. (medscape.com)
  • We conducted an open label study to examine the clinical effects of supplementation of the reduced form of CoQ10, ubiquinol, in addition to conventional glucose-lowering agents in patients with type 2 diabetes. (scite.ai)
  • Now, it will expand to Down Syndrome patients. (biospace.com)
  • Nous avons génotypé les deux polymorphismes mononucléotidiques du gène ADIPOQ chez 140 patients atteints de DNID sans lien de parenté et 66 témoins non diabétiques en recourant à l'analyse du polymorphisme de longueur des fragments de restriction par réaction en chaîne de polymérase. (who.int)
  • ABSTRACT We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. (who.int)
  • Its diverse clinical expression may include ectopia lentis, skeletal abnormalities, mental retardation, and premature arteriosclerosis and thrombosis. (nih.gov)
  • Lysosomal storage diseases describe a heterogeneous group of dozens of rare inherited disorders characterized by the accumulation of undigested or partially digested macromolecules, which ultimately results in cellular dysfunction and clinical abnormalities. (medscape.com)
  • The frequency of Waardenburg syndrome is estimated to be 1 case per 212,000 persons in the general population of the Netherlands, but owing to a low penetrance of about 20%, the frequency of the entire syndrome (with or without deafness) is probably approximately 1 case per 42,000 persons. (medscape.com)
  • Regarding the hormone receptors, we observed an increased frequency in C homozygotes (rs3803662) among estrogen receptor-negative individuals from groups 1 and 3. (biomedcentral.com)
  • The deficient neural crest theory, suggesting a developmental abnormality of the neural crest as a cause of the disease: The association of Waardenburg syndrome and congenital aganglionic megacolon supports this hypothesis. (medscape.com)
  • Even when an abnormal allele is not expressed (nonpenetrance), the unaffected carrier of the abnormal allele is able to pass it to their children, who may have the clinical abnormality. (msdmanuals.com)
  • Are STK11 polymorphisms a predictor of the response to metformin in polycystic ovarian syndrome? (cdc.gov)
  • 50% of the expected number of homozygotes present in these populations as apparently normal individuals. (omia.org)
  • The incidence of malformed newborn calves could not explain the expected number of homozygotes missing from these populations and high early embryonic mortality was suspected. (omia.org)
  • Objective Elucidate the core clinical and genetic characteristics and identify the phenotypic variation between different regions and genotypes of fatal familial insomnia (FFI). (bmj.com)
  • The aim is to investigate clinical and genetic characteristics of the abdominal and digestive system mani- festations in Armenian children with FMF. (pdfslide.net)
  • There was 100% embryonic mortality in the mutant homozygotes of all 3 strains. (omia.org)
  • H63D homozygotes do not develop hemochromatosis but may be at increased risk for amyotrophic lateral sclerosis, and carriers may be at increased risk for non-cardia gastric cancer. (mhmedical.com)
  • Follow this link to review classifications for Microcephaly-glomerulonephritis-marfanoid habitus syndrome in Orphanet. (nih.gov)
  • The nonfamilial forms of hypobetalipoproteinemia are secondary to a number of clinical states, such as occult malignancy, malnutrition, and chronic liver disease. (medscape.com)
  • Finally, we summarize the applications of PI3K, AKT, and mTOR inhibitors and their end result in clinical tests for malignancy treatment. (techblessing.com)
  • However, the likely causal variant shows incomplete penetrance and variable expressivity: not all homozygotes for the likely causal variant show signs of polymelia (at least externally) or any other NTD-related lesion, and the extent and location of supernumerary limbs varies considerably. (omia.org)
  • This has led to active clinical trials evaluating the safety and efficacy of intrathecal enzyme delivery in several lysosomal storage diseases (see www.ClinicalTrials.gov ). (medscape.com)
  • There are currently no approved treatments for PMM2-CDG, but two drugs are being explored in clinical trials. (cdghub.com)
  • Clinical trials of new antiviral drugs and therapies for BKPyV are urgently needed. (biomedcentral.com)
  • Eisai Co., Ltd. announced the publication of updated results from an evaluation estimating the societal value of anti-amyloid-beta protofibril* antibody lecanemab in people living with mild cognitive impairment due to Alzheimer's disease and mild AD using data from the Phase 3 clinical study, Clarity AD by applying a validated disease simulation model. (biospace.com)
  • In our programme, affected babies who are detected and treated promptly have good clinical outcomes. (kkh.com.sg)
  • Gross liver specimen from a patient with Dubin-Johnson syndrome showing multiple areas of dark pigmentation. (medscape.com)
  • How might these results change the focus of research or clinical practice? (bmj.com)