stress-induced childhood-onset neurodegeneration with variable ataxia and seizures

Summary
Synonym
  • CONDSIAS
Definition
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.
Super Class
autosomal recessive disease neurodegenerative disease
External Links
Disease Ontology
DOID:0070352
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
670 BPHL biphenyl hydrolase like
8505 PARG poly(ADP-ribose) glycohydrolase
54936 ADPRS ADP-ribosylserine hydrolase
Displaying 1 entry
Gene ID Gene Symbol Description Source
100206 Adprs ADP-ribosylserine hydrolase
Displaying 1 entry
Gene ID Gene Symbol Description Source
83507 Parg poly (ADP-ribose) glycohydrolase
Displaying 1 entry
Gene ID Gene Symbol Description Source
31329 Parg Poly(ADP-ribose) glycohydrolase
Displaying 1 entry
Gene ID Gene Symbol Description Source
796446 adprs ADP-ribosylserine hydrolase
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
548938 adprs ADP-ribosylserine hydrolase Xenopus tropicalis (tropical clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
177683 parg-1 Poly(ADP-ribose) glycohydrolase 1;poly(ADP-ribose) glycohydrolase
186765 parg-2 Poly(ADP-ribose) glycohydrolase 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 28 in total
HPO ID HPO Term
HP:0001324 Muscle weakness
HP:0000651 Diplopia
HP:0002465 Poor speech
HP:0000486 Strabismus
HP:0002080 Intention tremor
HP:0011463 Childhood onset
HP:0001263 Global developmental delay
HP:0000252 Microcephaly
HP:0001308 Tongue fasciculations
HP:0002121 Generalized non-motor (absence) seizure
Displaying 1 entry
Gene ID Gene Symbol Description
54936 ADPRS ADP-ribosylserine hydrolase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024