Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures (CONDSIAS)

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Disease Ontology 12 DOID:0070352 OMIM 56 618170 MeSH 43 D020271

MedGen 41 C4748527 CN257777 SNOMED-CT via HPO 68 103276001 11934000 128602000 128613002 15188001 16110005 22066006 246545002 246586009 249878001 258211005 26079004 26544005 278849000 313307000 32566006 343087000 366575004 418143002 52522001 563001 609225004 8011004 84757009 91175000 95646004 95828007 more

OMIM : ⁵⁶ Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy (summary by Ghosh et al., 2018). (618170)

MalaCards based summary : Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures, is also known as condsias, and has symptoms including seizures An important gene associated with Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures is ADPRS (ADP-Ribosylserine Hydrolase). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are hearing impairment and seizure

Disease Ontology : ¹² A neurodegenerative disease characterized by variable ataxia and seizures, has material basis in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy.

UniProtKB/Swiss-Prot : ⁷³ Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures: An autosomal recessive neurodegenerative disorder characterized by pediatric onset of progressive brain atrophy, developmental regression, and seizures in association with periods of stress, such as infections.

Clinical features from OMIM:

618170

Search Clinical Trials , NIH Clinical Center for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures

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