• In order to define the contribution of ADD3 and KAT2B mutations for the patient phenotype, we performed functional experiments in the Drosophila model. (nih.gov)
  • Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. (bmj.com)
  • The presence of certain mutations in genes has no relation with the phenotype i.e. any resulting physical traits or abnormality. (wikipedia.org)
  • Mutations in the SPR gene cause sepiapterin reductase deficiency. (medlineplus.gov)
  • There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
  • Adenosine deaminase 2 (ADA2) deficiency is a rare autosomal recessive disease that is caused by loss-of-function mutations in the ADA2 gene. (unige.it)
  • 2008). Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. (cincinnatichildrens.org)
  • Genetic basis of severe factor XIII deficiency in a large cohort of Indian patients: Identification of fourteen novel mutations. (cdc.gov)
  • Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency. (cdc.gov)
  • Medium-chain acyl-coA dehydrogenase deficiency: evaluation of genotype-phenotype correlation in patients detected by newborn screening. (medscape.com)
  • Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy. (cdc.gov)
  • In this study, we used comparative transcriptomics to identify differentially expressed genes underlying cln5 -deficiency phenotypes during growth and the early stages of multicellular development. (frontiersin.org)
  • Clinical heterogeneity among patients with alpha-NAGA deficiency is extreme. (bmj.com)
  • These observations are difficult to reconcile with a simple genotype-phenotype correlation and we suggest that factors or genes other than alpha-NAGA contribute to the clinical heterogeneity of the eight patients with alpha-NAGA deficiency. (bmj.com)
  • Here we report a patient with NGLY1 deficiency whose clinical presentation lacks many of the features associated with the disease and has a much milder intellectual disability than had been previously reported, expanding the phenotypic spectrum. (cdghub.com)
  • This report describes the clinical characteristics of a group of 59 individuals with the PI* SZ phenotype and α 1 -antitrypsin (α 1 -AT) deficiency, identified during recruitment of a registry for subjects with severe α 1 -antitrypsin deficiency. (elsevierpure.com)
  • Deficiency of SMO represents a biochemical defect in the cholesterol synthesis pathway, the clinical spectrum of which remains to be defined. (jci.org)
  • ABSTRACT This study determined the epidemiological, clinical and laboratory profile of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Baghdad (central Iraq) and compared it with previous data from Mosul (northern Iraq). (who.int)
  • What clinical symptoms are typically associated with A1AT deficiency? (aacc.org)
  • Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. (cdc.gov)
  • The disease has a variable clinical phenotype that ranges from mild to severe. (cdc.gov)
  • The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. (cdc.gov)
  • The clinical manifestations of G6PD and enzyme activity was determined deficiency vary from no symptoms to acute using the fluorescent spot test [ 10 ]. (who.int)
  • Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing. (nih.gov)
  • Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China. (nih.gov)
  • Exploring the global landscape of genetic variation in coagulation factor XI deficiency. (cdc.gov)
  • SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes. (medscape.com)
  • A family with hereditary FⅪ deficiency caused by compound heterozygous mutation]. (nih.gov)
  • Mutation analysis and prenatal diagnosis for a family affected with congenital factor VII deficiency]. (cdc.gov)
  • Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate. (cdc.gov)
  • Analysis of Phenotype and L12R Mutation in Signal Peptide and 3' Non-translation Region c11814-insAA Mutation of F7 Gene in a Family with Hereditary Coagulation Factor VII Deficiency]. (cdc.gov)
  • To assess the role of smoking and heterozygous (PiMZ) alpha 1-antitrypsin deficiency as risk factors in the pathogenesis of emphysema, we compared results of FEV1.0 (and FEV%) measurements in a random population sample of 56-year-old men with those obtained in an investigation 6 years earlier. (nih.gov)
  • Genetic traits associated with lung diseases include increased aryl- hydrocarbon-hydrolase activity associated with bronchogenic carcinoma, and alpha-1-antitrypsin deficiency associated with obstructive pulmonary disease, particularly emphysema. (cdc.gov)
  • Alpha-1 antitrypsin deficiency is congenital lack of a primary lung antiprotease, alpha-1 antitrypsin, which leads to increased protease-mediated tissue destruction and emphysema in adults. (msdmanuals.com)
  • In the lungs, alpha-1 antitrypsin deficiency increases neutrophil elastase activity, which facilitates tissue destruction leading to emphysema (especially in smokers, because cigarette smoke also increases protease activity). (msdmanuals.com)
  • Alpha-1 antitrypsin deficiency and various occupational. (msdmanuals.com)
  • At the metabolic level, the patients with alpha-NAGA deficiency are similar. (bmj.com)
  • Iron-Deficiency Anemia Results in Transcriptional and Metabolic Remodeling in the Heart Toward a Glycolytic Phenotype. (ox.ac.uk)
  • Our results show that iron-deficiency anemia results in a metabolic remodeling toward a glycolytic, lactic acid-producing phenotype, a hallmark of hypoxia. (ox.ac.uk)
  • Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. (biomedcentral.com)
  • Other selected metabolic polymorphisms associated with diseases included slow acetylator phenotype, microsomal oxidizing systems, and paraoxonase deficiency. (cdc.gov)
  • Up to now eight patients with alpha-NAGA deficiency have been described. (bmj.com)
  • The newly identified patient is consanguineous with the first patients reported with alpha-NAGA deficiency and neuroaxonal dystrophy and they all had the alpha-NAGA genotype E325K/E325K. (bmj.com)
  • [ 9 ] Both patients probably had galactose-1-phosphate uridyltransferase (GALT) deficiency, which is the most common enzyme deficiency that causes hypergalactosemia. (medscape.com)
  • Patients with DRD have selective striatonigral dopamine deficiency without neuronal loss, caused by genetic defects in dopamine synthesis. (medscape.com)
  • Patients with partial HPRT deficiency (variants) always have hyperuricemia and often have neurologic abnormalities, but do not self-injure and usually are described as having normal intelligence. (cambridge.org)
  • Family history of G6PD deficiency was positive in 19.2% of patients in Baghdad and 13.6% in Mosul. (who.int)
  • 95% of patients with CPT II deficiency. (cincinnatichildrens.org)
  • 2014) Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. (cincinnatichildrens.org)
  • Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology. (cdc.gov)
  • F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. (cdc.gov)
  • Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients. (cdc.gov)
  • Altogether, our studies describe the expansion of the phenotypic spectrum in ADD3 deficiency associated with a homozygous likely pathogenic KAT2B variant and thereby identify KAT2B as a susceptibility gene for kidney and heart disease in ADD3-associated disorders. (nih.gov)
  • Overall, this study reveals the impact of cln5 -deficiency on gene expression in D. discoideum , provides insight on the genes and proteins that play a role in regulating Cln5-dependent processes, and sheds light on the molecular mechanisms underlying CLN5 disease. (frontiersin.org)
  • These observations indicate that in smokers, the PI*SZ phenotype confers a significant risk of the development of chronic obstructive pulmonary disease (COPD). (elsevierpure.com)
  • Identification of a monogenic cause of kidney stone disease facilitates optimal stone prevention management and identification of associated phenotypes. (nature.com)
  • In this case report we describe a new phenotype of the disease in a 14-year-old boy, characterized by seizures and rhabdomyolysis. (biomedcentral.com)
  • Glycogen storage disease type XII (GSD XII) is an ultra-rare autosomal recessive disorder caused by aldolase A (ALDOA) deficiency, characterized by hemolytic anemia and rhabdomyolysis with or without myopathy or intellectual disability. (biomedcentral.com)
  • We herein report 2 cases of ADA2 deficiency with different kidney patterns due, respectively, to a predominantly macroscopic and microscopic vasculopathy, and review the literature on kidney disease in ADA2 deficiency. (unige.it)
  • What is the most severe disease associated phenotype? (aacc.org)
  • NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). (cdghub.com)
  • A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. (cdc.gov)
  • Individuals with the SZ phenotype reported respiratory symptoms less frequently than did ZZ subjects. (elsevierpure.com)
  • SSADH deficiency leads to various neurological and neuromuscular symptoms and findings. (rarediseases.org)
  • In individuals with SSADH deficiency, the range, severity, and presentation of certain symptoms and findings may be variable, including among affected family members. (rarediseases.org)
  • We thus sought to determine whether a SHANK3 deficiency could contribute to the emergence or worsening of AD symptoms and neuropathology. (jneurosci.org)
  • A "non-epileptic" form of GLUT1 deficiency syndrome is associated with all the typical symptoms of the condition without seizures. (nih.gov)
  • When Do Symptoms of Classic glucose transporter type 1 deficiency syndrome Begin? (nih.gov)
  • Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. (medscape.com)
  • We report here that a genetic modifier on mouse distal chromosome 1, coinciding with the locus containing Nicastrin, influences presenilin-mediated Notch S3-site cleavage and the resultant Notch phenotype without affecting presenilin-mediated APP γ-site cleavage. (hku.hk)
  • A brief review considered selected genetic variants and associated diseases such as red blood cell traits and predisposure to acute hemolytic anemia for persons with glucose-6-dehydrogenase deficiency, the occurrence of sickle cell anemia in individuals having a specific change in the amino acid structure of the peptide chains of hemoglobin, and the occurrence of thalassemia major due to a genetic defect in the rate of hemoglobin synthesis. (cdc.gov)
  • The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. (cdc.gov)
  • Genetic of glucose-6-phosphate dehydrogenase blood disorders survey in the Sultanate deficiency in the Fars province of Iran. (who.int)
  • Genotype-phenotype correlations in sepiapterin reductase deficiency. (medlineplus.gov)
  • Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. (medscape.com)
  • Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. (wikipedia.org)
  • Cases included infants or fetuses belonging to 38 phenotypes of birth defects (n = 17,908), and controls included infants who were unaffected by a major birth defect (n = 7173). (cdc.gov)
  • Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (medscape.com)
  • The detailed morphological and biochemical workup of murine hearts indicated that the myocardial damage was due to complex I deficiency and mitochondrial dysfunction. (uni-koeln.de)
  • The proband, was a boy aged 14-years when the diagnosis of aldolase deficiency was established. (biomedcentral.com)
  • Individuals with GALT deficiency manifest abnormal galactose tolerance. (medscape.com)
  • SSADH deficiency leads to abnormal accumulation of the compound succinic semialdehyde, which is reduced or converted to 4-hydroxybutyric acid, also known as GHB (gamma-hydroxybutyric acid). (rarediseases.org)
  • Abnormal screening in a healthy infant of a mother with undiagnosed medium-chain acyl-coA dehydrogenase deficiency. (medscape.com)
  • CPT II deficiency is caused by pathogenic variants in the CPT2 gene, and this condition is inherited in an autosomal recessive manner. (cincinnatichildrens.org)
  • Adenosine deaminase (ADA) deficiency is a rare autosomal recessive disorder of purine metabolism that leads to severe combined immunodeficiency (SCID) by primarily affecting lymphocyte development and function. (researchgate.net)
  • GALT is responsible for hereditary galactosemia and is the most common deficiency. (medscape.com)
  • In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction. (radygenomics.org)
  • Iron deficiency is the most prevalent micronutrient disorder globally. (ox.ac.uk)
  • CPT II deficiency is a disorder of long-chain fatty acid oxidation which may result in either of three distinct presentations based upon the affected individual's age and body systems affected. (cincinnatichildrens.org)
  • With regard to BH4 deficiencies, more than 190 different mutant alleles or molecular lesions have been identified, including in the genes for guanosine triphosphate cyclohydrolase (GCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), sepiapterin reductase (SR), carbinolamine-4a-dehydratase (PCD), and dihydropteridine reductase (DHPR). (medscape.com)
  • 90 different alleles have been identified and described by protease inhibitor (PI*) phenotype. (msdmanuals.com)
  • Galactokinase converts galactose to galactose-1-phosphate and is not a common deficiency. (medscape.com)
  • RÉSUMÉ La présente étude a permis de déterminer le profil épidémiologique, clinique et biologique de la carence en glucose-6-phosphate déshydrogénase (G6PD) à Bagdad (centre de l'Iraq) et de le comparer avec des données antérieures recueillies à Mossoul (nord de l'Iraq). (who.int)
  • Glucose-6-phosphate dehydrogenase in western Islamic Republic of Iran) to [G6PD] deficiency is a common X-linked find the prevalence of G6PD deficiency. (who.int)
  • Incidence and molecular polymerase-chain-reaction amplification analysis of glucose-6-phosphate dehyd- of the entire coding region from genomic rogenase deficiency in the province of DNA. (who.int)
  • Academy of Sciences of the United States phosphate dehydrogenase phenotypes of America , 1988, 85:5171-5. (who.int)
  • 6-phosphate dehydrogenase (G6PD) of Physicians and Surgeons Pakistan , deficiency. (who.int)
  • Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear. (ox.ac.uk)
  • The groups were matched for age, gender, severity of GH deficiency, degree of hypopituitarism and frequency of radiotherapy. (endocrine-abstracts.org)
  • Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. (nih.gov)
  • GLUT1 deficiency syndrome is caused by changes in the SLC2A1 gene and is inherited in an autosomal dominant manner. (nih.gov)
  • However, most individuals with SSADH deficiency are affected by mild to severe intellectual disability, delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation), and delays in language and speech development. (rarediseases.org)
  • Our study indicates a moderately blood donors from different ethnic groups high prevalence of G6PD deficiency in living in Kuwait revealed a wide range in Kermanshah (5.3%), which suggests all the frequency of G6PD deficiency from 1% newborns should be screened for G6PD for Egyptians to 11.55% for Iranians [ 8 ]. (who.int)
  • We reviewed the records of 156 under-5-year-olds with G6PD deficiency admitted to 3 hospitals in Baghdad over a 6-year period. (who.int)
  • Nous avons examiné les dossiers de 156 enfants âgés de moins de 5 ans qui présentaient une carence en G6PD, hospitalisés dans trois hopitaux de Bagdad sur une période de six ans. (who.int)
  • G6PD deficiency) and bright fluorescence populations [ 1,4,5 ]. (who.int)
  • All had severe G6PD in males and 10% in females [ 5 ], while in deficiency. (who.int)
  • deficiency to prevent neonatal jaundice and The incidence of G6PD deficiency in Fars subsequent kernicterus. (who.int)
  • 5 ]. The common phenotype is characterized by rhabdomyolysis and hemolytic anemia triggered by fever or exercise, myopathy, subtle cognitive dysfunction (learning disabilities or delayed language acquisition) [ 5 - 9 ]. (biomedcentral.com)
  • Our findings confirm that the kidney phenotype of ADA2 deficiency results from small and medium-sized vessel vasculopathy and suggest that type I IFN may be involved in the pathogenesis of kidney lesions. (unige.it)
  • Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare inborn error of metabolism that is inherited in an autosomal recessive pattern. (rarediseases.org)
  • Medium-chain acyl-CoA dehydrogenase deficiency in children with non- ketotic hypoglycemia and low carnitine levels. (medscape.com)
  • Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. (medscape.com)
  • Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. (medscape.com)
  • Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. (medscape.com)
  • Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. (medscape.com)
  • dehydrogenase deficiency in some ethnic recommended screening test for glucose- groups of Pakistan. (who.int)
  • Severe growth hormone (GH) deficiency in adults is associated with adverse changes in quality of life (QoL), body composition and cardiovascular risk profile. (endocrine-abstracts.org)
  • The results of this study in human brain samples and in transgenic mice are consistent with the hypothesis that Shank3 deficiency makes a key contribution to cognitive impairment in AD. (jneurosci.org)
  • Data gathered in a novel transgenic mouse suggest that Shank3a deficiency synergizes with AD neuropathology to induce cognitive impairment, consistent with a causal role in AD. (jneurosci.org)
  • When severe, iron deficiency leads to anemia, which can be deleterious to cardiac function. (ox.ac.uk)
  • We observed synergistic deleterious effects of Shank3a deficiency and AD neuropathology on object recognition memory at 9, 12, and 18 months of age and on anxious behavior at 9 and 12 months of age in hemizygous Shank3 Δex4-9 -3xTg-AD mice. (jneurosci.org)
  • Given the central role of iron and oxygen in cardiac biology, multiple pathways are expected to be altered in iron-deficiency anemia, and identifying these requires an unbiased approach. (ox.ac.uk)
  • This paper examines the association of different levels of parity with 17 phenotypes of noncardiac defects and 21 phenotypes and subphenotypes of cardiac defects, while adjusting for a wider range of confounding variables than previous studies. (cdc.gov)
  • A case report of a patient with a new phenotype of Aldolase A deficiency characterized by epilepsy and rhabdomyolysis, Treated with ketogenic diet. (biomedcentral.com)
  • Of itself, except in rare instances in nonsmoking individuals, the PI*SZ phenotype may confer little or no added risk of developing COPD. (elsevierpure.com)
  • In the intervals between episodes, individuals with the classical adult CPT II deficiency appear healthy. (cincinnatichildrens.org)
  • Renal manifestations in ADA2 deficiency are poorly characterized. (unige.it)
  • introduced a new concept of CKD-associated secretory phenotype (CASP), which indicates that senescent renal cells could secrete SASP components of various cytokines such as IL-1, IL-6, and TNF- α [ 19 , 20 ]. (hindawi.com)
  • Subsequently, however, hypokalaemia, hypertension, and severe prostration during a mild infection suggested adrenal involvement, and investigations showed a 17-alpha-hydroxylase deficiency. (bmj.com)
  • No significant differences in gene expression of classical polarisation markers were found in ATMs, however differential gene expression of proteins involved in macrophage function and phenotype was found in Trib3KO BMDMs compared to wild type results among the different polarisation states. (bmj.com)
  • Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. (wikipedia.org)
  • In this study, using adult mice maintained under standard diet, we demonstrate that Socs3 deficiency in the mediobasal hypothalamus (MBH) reduces food intake, protects against body weight gain, and limits adiposity, suggesting that Socs3 is necessary for normal body weight maintenance. (jneurosci.org)
  • Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. (medscape.com)
  • Nulliparity was associated with an increased risk of specific phenotypes of birth defects. (cdc.gov)
  • Conclusion: Quality of life does not determine the phenotype of adults with severe GH deficiency. (endocrine-abstracts.org)
  • Conclusion The results obtained in this pilot study suggest a role for Trib3 in macrophages due to expression differences measured in Trib3 deficient BMDMs, linked to a pro-inflammatory macrophage phenotype. (bmj.com)