CONDSIAS
MCID: NRD058
MIFTS: 27
|
Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures (CONDSIAS)
Categories:
Ear diseases, Genetic diseases, Muscle diseases, Neuronal diseases
|
|
Aliases & Classifications for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...
MalaCards integrated aliases for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:
Name: Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures
57
73
6
39
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
highly variable severity and features onset in first years of life after normal early development episodic deterioration associated with stress or fever sudden death in childhood may occur HPO:31
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Anatomical: Neuronal diseases Ear diseases Muscle diseases |
OMIM® :
57
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) (Updated 05-Mar-2021)
MalaCards based summary : Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures, also known as condsias, is related to ataxia and polyneuropathy, adult-onset and seizure disorder, 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 tongue and spinal cord, 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. |
Diseases related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:![]() |
Symptoms & Phenotypes for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...
Human phenotypes related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:31 (show all 17)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618170 (Updated 05-Mar-2021)Symptoms:12
|
Drugs & Therapeutics for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...
|
MalaCards organs/tissues related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:40
Tongue,
Spinal Cord
|
Articles related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:
|
ClinVar genetic disease variations for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:6 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:73
|
Search
GEO
for disease gene expression data for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures.
|
|
|