CONDSIAS
MCID: NRD058
MIFTS: 21

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 57 74 6
Condsias 57 74

Characteristics:

OMIM:

57
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:

32
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 618170
MeSH 44 D020271

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

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)

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 hearing impairment

UniProtKB/Swiss-Prot : 74 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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 hearing impairment 32 very rare (1%) HP:0000365
3 ptosis 32 HP:0000508
4 nystagmus 32 HP:0000639
5 dysarthria 32 HP:0001260
6 muscle weakness 32 HP:0001324
7 tremor 32 HP:0001337
8 developmental regression 32 HP:0002376
9 tongue fasciculations 32 HP:0001308
10 strabismus 32 HP:0000486
11 babinski sign 32 HP:0003487
12 dysmetria 32 HP:0001310
13 ophthalmoplegia 32 HP:0000602
14 cerebellar atrophy 32 HP:0001272
15 cerebral atrophy 32 HP:0002059
16 poor speech 32 HP:0002465
17 axonal loss 32 HP:0003447

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
nystagmus
strabismus
ophthalmoplegia
abnormal saccades

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

Neurologic Peripheral Nervous System:
axonal loss
sensorimotor axonal or demyelination neuropathy

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

Neurologic Central Nervous System:
ataxia
dysarthria
tremor
developmental regression
dysmetria
more
Head And Neck Mouth:
tongue fasciculations

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:

41
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 PMID Year
1
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. 8 71
30401461 2018
2
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. 8 71
30100084 2018

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADPRHL2 NM_017825.3(ADPRHL2): c.1000C> T (p.Gln334Ter) single nucleotide variant Pathogenic 1:36558895-36558895 1:36093294-36093294
2 ADPRHL2 NM_017825.3(ADPRHL2): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic 1:36557226-36557226 1:36091625-36091625
3 ADPRHL2 NM_017825.3(ADPRHL2): c.235A> C (p.Thr79Pro) single nucleotide variant Pathogenic 1:36556868-36556868 1:36091267-36091267
4 ADPRHL2 NM_017825.3(ADPRHL2): c.414_418del (p.Ala139fs) deletion Pathogenic 1:36557324-36557328 1:36091723-36091727
5 ADPRHL2 NM_017825.3(ADPRHL2): c.530C> T (p.Ser177Leu) single nucleotide variant Pathogenic 1:36557524-36557524 1:36091923-36091923
6 ADPRHL2 NM_017825.3(ADPRHL2): c.100G> A (p.Asp34Asn) single nucleotide variant Pathogenic 1:36554605-36554605 1:36089004-36089004
7 ADPRHL2 NM_017825.3(ADPRHL2): c.292del (p.Val98fs) deletion Pathogenic 1:36556925-36556925 1:36091324-36091324
8 ADPRHL2 NM_017825.3(ADPRHL2): c.1004T> G (p.Val335Gly) single nucleotide variant Conflicting interpretations of pathogenicity 1:36558899-36558899 1:36093298-36093298

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

74
# Symbol AA change Variation ID SNP ID
1 ADPRHL2 p.Thr79Pro VAR_081265
2 ADPRHL2 p.Val335Gly VAR_081270 rs201735454

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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