Possible Causes for mild phenotype Vitamin D Deficiency The CaSRQ459R mutation leads to mild functional inactivation in vitro, which explains the FHH-like phenotype in homozygous family members and the grossly exaggerated PTH response [ncbi.nlm.nih.gov] Glutamate Formiminotransferase Deficiency Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities [ncbi.nlm.nih.gov] There are two forms of the disorder: a severe phenotype and a mild phenotype. [egl-eurofins.com] Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental [uniprot.org] Cystitis […] spectrum that includes Debré-type cutis laxa at the severe end and wrinkly skin syndrome at the mild end. [ncbi.nlm.nih.gov] […] syndrome MedGen UID: 98030 •Concept ID: C0406587 • Disease or Syndrome ATP6V0A2-related cutis laxa, also known as autosomal recessive cutis laxa type 2A (ARCL2A), spans a phenotypic [ncbi.nlm.nih.gov] Constipation phenotype intermediate between type II and type IV of the syndrome. [ncbi.nlm.nih.gov] Chronic constipation in this patient was likely to be a consequence of a mild intestinal disorder owing to the SOX10 mutation, and this patient was considered to have a clinical [ncbi.nlm.nih.gov] Ichthyosis Vulgaris Interestingly, the proband of pedigree 1 was compound heterozygous for these mutations, but had a mild phenotype, suggesting that an incomplete penetrance factor and perhaps [ncbi.nlm.nih.gov] In addition, these mutations are semidominant; heterozygotes show a very mild phenotype with incomplete penetrance. [ncbi.nlm.nih.gov] These mutations are semidominant and heterozygotes show a very mild phenotype with incomplete penetrance (the authors calculated a penetrance in heterozygotes of 90%). [flipper.diff.org] Generalized Epilepsy with Febrile Seizures Plus Management and treatment As most patients with GEFS have a mild phenotype, treatment may not be necessary. [orpha.net] Prognosis The overall prognosis depends on the exact phenotype within the GEFS spectrum. In patients with mild phenotypes (FS, FS ) seizures often remit by adolescence. [orpha.net] However, precise phenotypes cannot be predicted as wide phenotypic variability is seen within families. [orpha.net] Cornelia De Lange Syndrome […] and major malformations are typical of the mild phenotype. [ncbi.nlm.nih.gov] Curiously, the study of fibroblasts of two siblings with a mild CdLS phenotype and a pathological variant specific of the isoform A of NIPBL (c.8387A G; P.Tyr2796Cys), showed [ncbi.nlm.nih.gov] SMC1A and SMC3 mutations are responsible for a mild phenotype of the syndrome. [ncbi.nlm.nih.gov] Anemia Furthermore, 2% to 5% of pregnant women with normocytic anemia have mild megaloblastic changes in the bone marrow that resolve with folic acid supplementation. 74 Serum cobalamin [bloodjournal.org] Most pregnant women with folate or cobalamin deficiency do not exhibit macrocytosis, 74, 77 which may be masked by iron deficiency or by an underlying minor thalassemic phenotype [bloodjournal.org] Insomnia […] clinical phenotype in FFI remains uncertain. [ncbi.nlm.nih.gov] Insomnia symptoms were most commonly endorsed at a mild severity level (composite score mean 2.24, standard deviation 2.51). [ncbi.nlm.nih.gov] Results: Insomnia symptoms were most commonly endorsed at a mild severity level (composite score mean 2.24, standard deviation 2.51). [doi.org] Leydig Cell Hypoplasia due to LHB Deficiency Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility [ncbi.nlm.nih.gov] Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. [ncbi.nlm.nih.gov] Congenital Myopathy with Excess of Thin Filaments Sewry CA, Brown SC, et al: Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) gene. [journals.sagepub.com] Mild phenotype of nemalinemyopathy with sleep hypoventilation due to a mutation in theskeletal muscle alpha-actin (ACTA1) gene. Neuromuscul Dis-ord 2001;11:3540.15. [documents.tips] L267D in yeast actin resulted in a mild phenotype (a cold-sensitive polymerization defect) (Chen et al., 1993). [jcs.biologists.org] Craniofrontonasal Dysplasia Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism [orpha.net] We suggest that this individual does have the CFND mutation, but has an extremely mild phenotype that is not detectable with clinical examination. [ncbi.nlm.nih.gov] Hypertension Perspectives All 3 of the hypertensive phenotypic syndromes described in this review show mild-to-severe cardiovascular risk, and, therefore, cannot be described as having [doi.org] Cholesterol Ester Storage Disease Markus Exner, Thomas Helbich, Clemens Dejaco, Gerd Schmitz, Peter Ferenci, A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild [onlinelibrary.wiley.com] […] lipolytic enzymes of medical interest. 61 Roussel A...Cambillau C 10358049 1999 35 A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild [malacards.org] A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. [genecelltissue.com] Hyperuricemia As mutations in exon 45 exhibit mild to lethal phenotypes, we tested if disruption of an exonic splicing cis-element determines the clinical phenotype, but detected no such [ncbi.nlm.nih.gov] As mutations in exon 45 exhibit mild to lethal phenotypes, we tested if disruption of an exonic splicing cis -element determines the clinical phenotype, but detected no such [doi.org] We identified a dominant missense mutation, c.3235G A in COL1A1 exon 45 predicting p.G1079S, in a Japanese family with mild OI. [ncbi.nlm.nih.gov] Sarcotubular Myopathy * Most patients have a mild phenotype, with limb-girdle weakness and a waddling gait at presentation. [checkorphan.org] In our family, the phenotype encompasses additionally a mild demyelinating polyneuropathic syndrome. [ncbi.nlm.nih.gov] Interestingly, heterozygous family members carrying only one mutation showed mild clinical symptoms and vacuolar changes in muscle. [ncbi.nlm.nih.gov] Atopy RESULTS: Four asthma phenotypes were identified. [ncbi.nlm.nih.gov] Cluster 1 (22% of children) was characterized by high prevalence of atopy and mild symptoms; subjects in cluster 2 (17%) consisted of less atopy and normal lung function, [ncbi.nlm.nih.gov] Monosomy 21q All three patients had relatively mild phenotypes. [jhu.pure.elsevier.com] In contrast to previous observations, we showed that deletions of the 21q proximal region are not necessarily associated with severe phenotypes and, therefore, that mild phenotypes [molecularcytogenetics.biomedcentral.com] Mild Phenotypic Manifestations of Terminal Deletion of the Long Arm of Chromosome 4: Clinical Description of a New Patient. A Caliebe et al., Clin Genet. [rarediseases.org] Insulin Resistance The cases highlight the diversity of clinical phenotypes associated with mutations of the insulin receptor gene. [ncbi.nlm.nih.gov] In contrast to common situation for this genetic disorder, the sisters harbored compound heterozygous mutations in the insulin receptor gene associated with mild glucose intolerance [ncbi.nlm.nih.gov] Limb-Girdle Muscular Dystrophy phenotype in our patient. [ncbi.nlm.nih.gov] The dysferlin molecule arising from the latter allele appeared to partially complement the null mutation, likely accounting for the mother's mild phenotype. [ncbi.nlm.nih.gov] Compound heterozygous Asian patients have a mild phenotype but frequently show respiratory and cardiac impairments. [ncbi.nlm.nih.gov] Periodontitis 279 A recent pilot study indicated that nonsurgical treatment of mild to moderate periodontitis in otherwise healthy individuals may significantly reduce cIMT at 12 months [dx.doi.org] […] peripheral blood monocytes, notably in several genes related to innate immunity, apoptosis, and cell signaling, in a manner compatible with the promotion of an antiatherogenic phenotype [dx.doi.org] Legius Syndrome phenotype and to investigate whether other SPRED/SPRY genes may be causal, a panel of unrelated mild NF1 patients were screened for mutations of the SPRED1-3 and the SPRY1 [ncbi.nlm.nih.gov] Overall SPRED1 mutations apparently account for 10% of patients with a mild NF1 phenotype in the two cohorts reported (Brems et al6 and the present study) to date. [jmg.bmj.com] […] gene, one of a family of Sprouty (Spry)/Spred proteins known to “downregulate” mitogen activated protein kinase (MAPK) signalling, have been identified in patients with a mild [digital.library.adelaide.edu.au] Sunburn […] to acute sunlight (no effect or tans, mild sunburn then tans, severe sunburn, severe sunburn with blistering), we created a sunburn susceptibility phenotype index that categorized [ncbi.nlm.nih.gov] […] green) 59.3 4.4 a Tanning ability Deeply 23.5 30.5 Moderately 56.6 53.2 Lightly 17.5 14.1 Not at all 2.3 2.2 a Skin’s reactivity to sunlight No effect, or tans 20.0 45.0 Mild [ncbi.nlm.nih.gov] […] sunburn, then tans 49.5 41.0 Severe sunburn without blistering 19.8 10.1 Severe sunburn with blistering 10.7 3.9 a Sunburn susceptibility phenotype index 0–1 15.8 45.5 2– [ncbi.nlm.nih.gov] Junctional Epidermolysis Bullosa CONCLUSIONS: In contrast to complete null phenotypes, presence of minor amounts of collagen XVII protein in JEB skin is associated with mild phenotypic manifestations. [ncbi.nlm.nih.gov] Conclusions In contrast to complete null phenotypes, presence of minor amounts of collagen XVII protein in JEB skin is associated with mild phenotypic manifestations. [jmg.bmj.com] COL17A1 mutations were disclosed, 12 of them novel. mRNA and protein analyses demonstrated that patients with only about 12-14% of the physiological collagen XVII levels had mild [ncbi.nlm.nih.gov] GLUT1 Deficiency Syndrome CONCLUSION: We report a four-generation family with GLUT1-DS where the disease has a mild course, even when untreated. [ncbi.nlm.nih.gov] We report a 12-year-old female patient with a mild phenotype of glucose transporter type 1 deficiency syndrome (Glut1D). [ncbi.nlm.nih.gov] In patients with mild phenotypes, paroxysmal manifestations may be the sole manifestations of the disease. [ncbi.nlm.nih.gov] Coxsackievirus Infection Although many screens were successful, they also have the limitation that genes conferring mild phenotypes or those essential for growth can be overlooked, as every genetic [ncbi.nlm.nih.gov] Pooled CRISPR screens based on lentiviral systems have been widely applied to identify the effect of gene knockout on cellular phenotype. [ncbi.nlm.nih.gov] Isovaleric Acidemia Our findings indicate the frequent occurrence of a novel mild and potentially asymptomatic phenotype of IVA. [ncbi.nlm.nih.gov] So more than half of IVA patients represent a new mild phenotype and potentially remain asymptomatic. [e-imd.org] Recommendations on how to counsel and manage individuals with the mild phenotype detected by NBS are required. [mdpi.com] Pelizaeus-Merzbacher Disease Exon 3B mutations are known to cause a mild phenotype since they do not disturb DM20 production. [ncbi.nlm.nih.gov] Here we report a PMD patient with a very mild phenotype carrying a novel mutation (485G-- T) in exon 4 of the PLP1 gene that causes a Trp(162)Leu substitution in the protein [ncbi.nlm.nih.gov] This might explain the mild phenotype in this case, as exon 6 skipping mutations resulted in a severe course of disease in other patients. [ncbi.nlm.nih.gov] Atopic Dermatitis Multicenter, 3-week, Randomized, Double-blind, Parallel-group, Vehicle-controlled Study to Evaluate the Efficacy and Safety of Pimecrolimus Cream 1% in Pediatric Patients With Mild [malacards.org] Completed NCT00510003 Phase 4 Pimecrolimus 24 An Exploratory 16 Week, Double Blind, Placebo-Controlled Single Center Mechanistic Study to Determine the Effect of Rhumab-E25 on Phenotype [malacards.org] Obesity Specifically, mild-to-moderate (but not severe) phenotypic obesity and/or a genotypic predisposition to obesity may increase fecundity relative to phenotypic thinness and/ [doi.org]
