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.

  1. CentoPedia

CentoPedia

  • Noonan syndrome

    Noonan syndrome (NS) is a rare autosomal dominant disease characterized by short stature, characteristic facies, congenital heart defect, and developmental delay. NS is one of the most common birth defects, with an estimated incidence of 1 in1,000 to 1 in 2,500 births. Noonan syndrome belongs to the…

  • Pheochromocytoma

    Pheochromocytomas (PCC) and paragangliomas (PGL) are rare catecholamine-secreting tumors that arise from the chromaffin cells of the adrenal medulla and/or from extra-adrenal sympathetic and parasympathetic paraganglia. Approximately 30% of all pheochromocytomas/paragangliomas (PGL/PCC) occur as a…

  • Retinitis pigmentosa

    Retinitis pigmentosa (RP) refers to a group of rare inherited diseases characterized by abnormalities of the photoreceptors of the retina, leading to progressive visual loss. The prevalence of retinitis pigmentosa is 1:3000 to 1:7000 persons, or 14 to 33 per 100,000. Retinitis pigmentosa that does…

  • Mental retardation X-linked

    Intellectual disability (ID), also referred to as mental retardation (MR), is a lifelong disability that presents in infancy/early childhood and it is characterized by below-average intelligence and a lack of skills essential for every-day life. People with intellectual disabilities can learn new…

  • Spastic paraplegia

    Hereditary Spastic Paraplegia (HSP), also known as SPG (Spastic Paraplegia) is a group of inherited neurological diseases whose main feature is progressive spasticity in the lower limbs as a result of neuronal dysfunction. The condition sometimes also affects the optic nerve and retina or causes…

  • Autoimmune lymphoproliferative syndrome

    Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disease caused by abnormal lymphocyte homeostasis. ALPS is characterized by non-malignant lymphoproliferation, splenomegaly, and autoimmune cytopenia. ALPS-affected patients have a lifelong increased risk of Hodgkin's and…

  • Afibrinogenemia

    Congenital afibrinogenemia is a rare inherited disease resulting from a defect in fibrinogen and characterized by uncontrolled bleeding. The most common manifestations of afibrinogenemia include umbilical cord bleeding, nose-bleeds (epistaxis), hemarthrosis and others. Uncontrolled bleeding in…

  • Tuberous sclerosis

    Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous benign tumors in different body parts, including skin, brain, kidneys, and other organs. The diagnosis of TSC is based on clinical findings, but genetic background of the disease is also very common. Thus,…

  • Alport syndrome

    Alport syndrome (ATS) is a rare disease caused by genetic mutations in one of the type IV collagen genes that encode connective tissue proteins localized within basement membranes of the kidneys, ears, and eyes. Thus, the disease is characterized by renal, cochlear, and ocular involvement.

  • Aicardi-Goutieres syndrome

    Aicardi-Goutieres syndrome is a rare inherited disorder that mainly affects the brain, immune system, and skin. Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy which results in severe intellectual and physical disabilities.