Antley-Bixler syndrome is a genetically caused disorder whose incidence in the general population is relatively low. The commonly used abbreviation for the disorder is ABS. To date, approximately 50 cases of the disease are known and described in individuals. Basically, Antley-Bixler syndrome appears equally in men and women. What is Antley-Bixler syndrome? Antley-Bixler syndrome got … Antley-Bixler Syndrome: Causes, Symptoms & Treatment
Pseudoxanthoma elasticum (PXE) is a rare inherited disorder also known as Grönblad-Strandberg syndrome. It primarily affects the skin, eyes, and blood vessels. What is pseudoxanthoma elasticum? The condition pseudoxanthoma elasticum is also called elastorrhexis generalista or Grönblad-Strandberg syndrome. It is a hereditary disorder. The elastic fibers of the connective tissue are affected. Grönblad-Strandberg syndrome manifests … Pseudoxanthoma Elasticum: Causes, Symptoms & Treatment
The phenotype is the outwardly visible appearance of an organism with its various characteristics. Both genetic makeup (genotype) and environment influence the expression of the phenotype. What is the phenotype? The phenotype is the outwardly visible appearance of an organism with its various characteristics. The visible expressions of an organism, but also the behavior and … Phenotype: Function, Tasks, Role & Diseases
Doctors understand by the term retinitis an inflammation of the eye retina. Triggered by various factors, it can lead to complete loss of vision as it progresses. What is retinitis? Retinitis is an inflammation of the retina, often triggered by infections. The course of the disease can be characterized by harmless symptoms, but can also … Retinitis: Causes, Symptoms & Treatment
De Toni Debre Fanconi syndrome is the name given to a genetic disease. It involves reabsorption of various substances in the kidney. What is de Toni Debre Fanconi syndrome? De Toni-Debre-Fanconi syndrome is also known as De Toni-Debre-Fanconi complex, De Toni-Fanconi syndrome, or glucose-amino acid diabetes. This refers to a renal resorption disorder of the … De Toni Debre Fanconi Syndrome: Causes, Symptoms & Treatment
Genetics is the study of heredity and deals with genetic information and how it is passed on. In genetics, both the structure and the functions of genes are studied in more detail. As the study of heredity, it belongs to a branch of biology and examines individual characteristics that are passed down through several generations. … Genetics: Treatment, Effects & Risks
Gene expression refers to the expression and development of a genetically predisposed characteristic of a living being. This is contrasted with genetic information that is not expressed and can only be detected by DNA analysis. What is gene expression? Gene expression refers to the expression and development of a genetically predisposed trait of a living … Gene Expression: Function, Tasks, Role & Diseases
Rodent syndrome is a congenital malformation syndrome belonging to the acrofacial dysostosis group. The symptom complex is based on a mutation in the SF3B4 gene, which codes for components of the splicing mechanism. Therapy is purely symptomatic. What is rodent syndrome? Acrofacial dysostoses are a group of diseases in the group of congenital skeletal dysplasias … Rodent Syndrome: Causes, Symptoms & Treatment
Glycerol kinase deficiency, also known by the synonyms GK deficiency, glycerol kinase deficiency, hyperglycerinemia, or ATP-glycerol-3-phosphotransferase deficiency, is a metabolic disorder that can be treated in the Department of Human Genetics. A distinction is made between isolated, infantile, juvenile, and adult glycerol kinase deficiency. What is glycerol kinase deficiency? Glycerol kinase deficiency is a rare … Glycerol Kinase Deficiency: Causes, Symptoms & Treatment
Cholerstinester storage disease is a lysosomal storage disease and inborn error of metabolism with a genetic basis. The disease is hereditary and is caused by a genetic mutation in the coding genes for lysosomal acid lipase. Symptomatic treatment of patients is conservative medication or enzyme replacement therapy steps. What is cholesterol ester storage disease? The … Cholesterol Ester Storage Disease: Causes, Symptoms & Treatment
Chromosomes are made of coiled DNA (deoxyribonucleinacid) and are found in the nucleus of every human cell. Although the number of chromosomes varies in each species, the amount of chromosomes in a species per body cell is identical. Humans have 23 pairs of chromosomes (diploid) or 46 individual chromosomes (haploid). However, comparison with other organisms … What are Chromosomes?
Tangier disease is an extremely rare hereditary disease to about 100 documented cases to date. Patients with this disease suffer from a disorder of lipid metabolism and decreased production of HDL cholesterol. Causal therapeutic methods for the treatment of Tangier disease do not yet exist. What is Tangier disease? Tangier disease is an extremely rare … Tangier Disease: Causes, Symptoms & Treatment