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
Condsias 57 12 73
Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures 12 15

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:



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) (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.

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

Diseases related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.1
2 seizure disorder 10.1
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
4 autosomal recessive disease 9.9
5 sensorineural hearing loss 9.9
6 dystonia 9.9
7 hypotonia 9.9

Graphical network of the top 20 diseases related to Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures:



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)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 very rare (1%) HP:0000365
2 seizure 31 very rare (1%) HP:0001250
3 ptosis 31 HP:0000508
4 nystagmus 31 HP:0000639
5 dysarthria 31 HP:0001260
6 tremor 31 HP:0001337
7 muscle weakness 31 HP:0001324
8 developmental regression 31 HP:0002376
9 strabismus 31 HP:0000486
10 ophthalmoplegia 31 HP:0000602
11 dysmetria 31 HP:0001310
12 babinski sign 31 HP:0003487
13 cerebellar atrophy 31 HP:0001272
14 cerebral atrophy 31 HP:0002059
15 poor speech 31 HP:0002465
16 tongue fasciculations 31 HP:0001308
17 axonal loss 31 HP:0003447

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Symptoms:

12
  • seizures

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:

40
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. 57 6
30401461 2018
2
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. 57 6
30100084 2018
3
Dystonia and Myelopathy in a Case of Stress-Induced Childhood-Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS). 61
33426173 2021
4
Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report. 61
32746785 2020

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 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADPRS NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) SNV Pathogenic 590300 rs1557733311 1:36556868-36556868 1:36091267-36091267
2 ADPRS NM_017825.3(ADPRS):c.414_418del (p.Ala139fs) Deletion Pathogenic 590301 rs1557733597 1:36557322-36557326 1:36091721-36091725
3 ADPRS NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu) SNV Pathogenic 590302 rs200626873 1:36557524-36557524 1:36091923-36091923
4 ADPRS NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn) SNV Pathogenic 590303 rs1557732234 1:36554605-36554605 1:36089004-36089004
5 ADPRS NM_017825.3(ADPRS):c.292del (p.Val98fs) Deletion Pathogenic 599344 rs1557733367 1:36556924-36556924 1:36091323-36091323
6 ADPRS NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter) SNV Pathogenic 590298 rs1557734377 1:36558895-36558895 1:36093294-36093294
7 ADPRS NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) SNV Likely pathogenic 590299 rs368433666 1:36557226-36557226 1:36091625-36091625
8 ADPRS NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro) SNV Likely pathogenic 801466 rs1570012058 1:36557395-36557395 1:36091794-36091794
9 ADPRS NM_017825.3(ADPRS):c.167_168AG[1] (p.Leu58fs) Microsatellite Likely pathogenic 804377 rs1570008399 1:36554672-36554673 1:36089071-36089072
10 ADPRS NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn) Deletion Likely pathogenic 807535 rs1570013257 1:36558065-36558067 1:36092464-36092466
11 ADPRS NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) SNV Conflicting interpretations of pathogenicity 599343 rs201735454 1:36558899-36558899 1:36093298-36093298
12 ADPRS NM_017825.3(ADPRS):c.639_642del (p.Lys213fs) Deletion Uncertain significance 870372 1:36557630-36557633 1:36092029-36092032

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

73
# Symbol AA change Variation ID SNP ID
1 ADPRS p.Thr79Pro VAR_081265 rs155773331
2 ADPRS 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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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