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

  • Cerebellar ataxia

    Cerebellar ataxias are a highly heterogeneous group of genetic disorders distinguished by abnormal wide-based gait, irregular eye and hand movements, speech difficulties, and morphologically characterized by cerebellar atrophy. Ataxia is a neurological feature of abnormal gait due to the lack of…

  • Early infantile epileptic encephalopathy

    Epileptic encephalopathies represent a group of severe epileptic diseases with an early onset, characterized by severe electroencephalographic abnormalities and resistance to standard anti-epileptic treatment. According to the International League Against Epilepsy (ILAE) epileptic encephalopathies…

  • Microcephaly

    Seckel syndrome is rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. The major feature of Seckel syndrome is associated autosomal recessive primary microcephaly…

  • Mucopolysaccharidosis

    Mucopolysaccharidoses are a group of rare inherited metabolic disorders caused by the absence or dysfunction of lysosomal enzymes and subsequent lysosomal storage of glycosaminoglycans. This group of numerous and highly diverse diseases, with a broad range of symptoms and genetic causes, can be…

  • Joubert syndrome

    Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction, and psychomotor impairment,…

  • Zellweger syndrome

    Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction, and psychomotor impairment,…

  • Spherocytosis

    Hereditary spherocytosis is a rare inherited disorder characterized by haemolytic anaemia resulting from red blood cell membrane protein anomalies. Hereditary spherocytosis is the most common inherited anemia in individuals of European ancestry, with a prevalence of 1-5 in 10,000 or higher when the…

  • Dravet syndrome

    Dravet syndrome (DS) is a group of early infantile epileptic encephalopathies (EIEE) characterized by early onset, progressive encephalopathy, and severe seizures. DS is characterized by the onset of clonic or tonic-clonic seizures within the first year of life in infants with previously normal…

  • Waardenburg syndrome

    Waardenburg syndrome (WS) is an auditory-pigmentary disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities of the iris, skin and hair, and with dystopia canthorum. There are four known types of Waardenburg syndrome which are distinguished by their physical…

  • Oculomotor apraxia

    Ataxia with oculomotor apraxia (AOA) is a rare inherited disease characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. There are 2 major subtypes of AOA, type 1 and type 2, which are…