CONDSIAS
MCID: NRD058
MIFTS: 20

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

Categories: Genetic 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 58 76 6
Condsias 58 76

Characteristics:

OMIM:

58
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


Classifications:



Summaries for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

OMIM : 58 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. An important gene associated with Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures is ADPRHL2 (ADP-Ribosylhydrolase Like 2). Affiliated tissues include brain, tongue and spinal cord, and related phenotypes are seizures and ptosis

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

Symptoms & Phenotypes for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

Human phenotypes related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 ptosis 33 HP:0000508
3 nystagmus 33 HP:0000639
4 dysarthria 33 HP:0001260
5 muscle weakness 33 HP:0001324
6 tremor 33 HP:0001337
7 developmental regression 33 HP:0002376
8 strabismus 33 HP:0000486
9 babinski sign 33 HP:0003487
10 dysmetria 33 HP:0001310
11 ophthalmoplegia 33 HP:0000602
12 cerebellar atrophy 33 HP:0001272
13 cerebral atrophy 33 HP:0002059
14 axonal loss 33 HP:0003447
15 poor speech 33 HP:0002465

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
nystagmus
strabismus
ophthalmoplegia
abnormal saccades

Muscle Soft Tissue:
muscle weakness
fiber size variation
type ii fiber atrophy

Head And Neck Mouth:
tongue fasciculations

Head And Neck Ears:
hearing loss (in some patients)

Neurologic Central Nervous System:
ataxia
dysarthria
tremor
developmental regression
dysmetria
more
Neurologic Peripheral Nervous System:
axonal loss
sensorimotor axonal or demyelination neuropathy

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Clinical features from OMIM:

618170

Drugs & Therapeutics for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

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

Genetic Tests for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

Anatomical Context for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

MalaCards organs/tissues related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:

42
Brain, Tongue, Spinal Cord

Publications for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

Articles related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:

# Title Authors Year
1
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. ( 30401461 )
2018
2
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. ( 30100084 )
2018

Variations for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:

76
# Symbol AA change Variation ID SNP ID
1 ADPRHL2 p.Thr79Pro VAR_081265
2 ADPRHL2 p.Val335Gly VAR_081270 rs201735454

ClinVar genetic disease variations for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADPRHL2 NM_017825.2(ADPRHL2): c.1000C> T (p.Gln334Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 36093294: 36093294
2 ADPRHL2 NM_017825.2(ADPRHL2): c.1000C> T (p.Gln334Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 36558895: 36558895
3 ADPRHL2 NM_017825.2(ADPRHL2): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 36091625: 36091625
4 ADPRHL2 NM_017825.2(ADPRHL2): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 36557226: 36557226
5 ADPRHL2 NM_017825.2(ADPRHL2): c.235A> C (p.Thr79Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 36556868: 36556868
6 ADPRHL2 NM_017825.2(ADPRHL2): c.235A> C (p.Thr79Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 36091267: 36091267
7 ADPRHL2 NM_017825.2(ADPRHL2): c.414_418delTGCCC (p.Ala139Glyfs) deletion Pathogenic GRCh38 Chromosome 1, 36091723: 36091727
8 ADPRHL2 NM_017825.2(ADPRHL2): c.414_418delTGCCC (p.Ala139Glyfs) deletion Pathogenic GRCh37 Chromosome 1, 36557324: 36557328
9 ADPRHL2 NM_017825.2(ADPRHL2): c.530C> T (p.Ser177Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 36091923: 36091923
10 ADPRHL2 NM_017825.2(ADPRHL2): c.530C> T (p.Ser177Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 36557524: 36557524
11 ADPRHL2 NM_017825.2(ADPRHL2): c.100G> A (p.Asp34Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 36089004: 36089004
12 ADPRHL2 NM_017825.2(ADPRHL2): c.100G> A (p.Asp34Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 36554605: 36554605
13 ADPRHL2 NM_017825.3(ADPRHL2): c.1004T> G (p.Val335Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 36093298: 36093298
14 ADPRHL2 NM_017825.3(ADPRHL2): c.1004T> G (p.Val335Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 36558899: 36558899
15 ADPRHL2 NM_017825.3(ADPRHL2): c.292delG (p.Val98Trpfs) deletion Pathogenic GRCh38 Chromosome 1, 36091324: 36091324
16 ADPRHL2 NM_017825.3(ADPRHL2): c.292delG (p.Val98Trpfs) deletion Pathogenic GRCh37 Chromosome 1, 36556925: 36556925

Expression for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

Search GEO for disease gene expression data for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures.

Pathways for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

GO Terms for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

Sources for Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable...

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