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Genetics in a Nutshell

CentoPedia – your essential epitome for genetic diagnostics. Given the complexities of rare diseases, the limited natural history data, and the smaller pool of patients to participate in clinical development, CentoPedia supports you with background information on clinical pictures, involved genes and the recommended testing strategy.

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CentoPedia

  • Periodic Fever Syndrome

    Periodic fever syndrome is a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. The main inherited periodic fever syndromes are familial Mediterranean fever (FMF) caused by pathogenic variants in MEFV, periodic fever, familial caused by pathogenic…

  • Generalized Epilepsy with Febrile Seizures

    Epilepsy (generalized) with febrile seizures is a complex autosomal dominant disorder characterized by generalized febrile convulsions. Febrile seizures are the most common convulsive event occurring in 2-6% of the population. The lifetime prevalence of febrile seizures is estimated at 3-4% of all…

  • Thrombocytopenia

    Thrombocytopenia is a disorder of haematopoetic cells with predominant defects of platelets and it is defined as having a platelet count of less than 150,000 in mL of circulating blood, while the normal number of platelets ranges between 150,000 and 450,000 cells per mL of blood. Platelets are…

  • Methylmalonic Acidemia

    Methylmalonic acidemia (MMA) is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. The prevalence of methylmalonic acidemia is estimated between 1:50,000 and 1:100,000. In Japan, the birth prevalence may…

  • Flecked Retina

    Familial benign fleck retina is an autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like…

  • Myofibrillar Myopathy

    Myofibrillar myopathies (MFM) are group of neuromuscular diseases characterized by slowly progressive weakness that can involve both proximal and distal muscles. MFM primarily affects skeletal muscles and in some cases cardiac muscle. The signs and symptoms of MFM vary widely among affected…

  • Kallmann Syndrome and Hypogonadotropic Hypogonadism

    Kallmann syndrome is a developmental genetic disorder characterized by delayed or absent puberty and impaired sense of smell and it belongs to isolated gonadotropin-releasing hormone deficiencies. Deficient hypothalamic gonadotropin-releasing hormone (GnRH) secretion underlies the markedly abnormal…

  • Optic Atrophy

    Optic atrophy (OPA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing severe visual loss, typically starting during the first decade of life. The disease affects primarily the retinal ganglion neurons and their axons forming the optic nerve, which…

  • Muscular Dystrophy

    Muscular dystrophies are inherited neuromuscular diseases characterized by weakness and wasting due to muscle dysfunction. Age of onset, severity, progression and histopathological findings are variable between different subtypes of muscular dystrophies. Muscular dystrophies include a heterogeneous…

  • Urea Cycle Disorder

    Urea cycle disorders are a group of genetic disorders caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted…