CAPOS
MCID: CRB058
MIFTS: 22

Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss (CAPOS)

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

MalaCards integrated aliases for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

Name: Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 53 29 6
Capos Syndrome 53 73
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome 53
Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss 53
Capos 53

Classifications:



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UMLS 73 C1832466

Summaries for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

NIH Rare Diseases : 53 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a neurological disorder. The syndrome gets its name from the different parts of the body it usually affects:Cerebellar ataxia: inflammation of the cerebellum, the part of the brain that helps control the coordination of muscle movement  Areflexia: loss of reflexes   Pes cavus: high arch in foot  Optic atrophy: damage to the optic nerve of the eye  Sensorinural hearing loss: damage to the nerves involved in hearing  CAPOS syndrome typically begins after a fever-related illness with a sudden episode of ataxia, such as having a hard time walking or coordinating leg or arm movements. The ataxia is usually associated with generalized weakness and/or inflammation of the brain (encephalopathy). The first episode most often happens between the ages of 6 months and 5 years. Pregnancy and delivery may also trigger episodes. Most people with CAPOS syndrome have one to three episodes during their lifetime. Other signs and symptoms during an episode may include low muscle tone, unusual eye movements (nystagmus or strabismus), problems with speech (dysarthria), difficulty swallowing (dysphagia), reduced or absent reflexes, and hearing loss. Some people may lose consciousness or go into a coma during an episode. Though many of the signs and symptoms of CAPOS syndrome get better as the fever and illness improve, some symptoms, including movement problems, may continue. Vision changes (optic atrophy) and sensorineural hearing loss tend to worsen over time, although the severity and rate of progression varies. Long-term management may include physical therapy, hearing and vision aids, and regular exams to check for changes in vision, hearing, and muscle coordination. 

MalaCards based summary : Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss, also known as capos syndrome, is related to cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including gait ataxia, hemiparesis and ataxia, truncal. An important gene associated with Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3). Affiliated tissues include eye, brain and cerebellum.

Related Diseases for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Diseases related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.2
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
3 alternating hemiplegia of childhood 10.1
4 hemiplegia 10.1
5 neuropathy 10.1
6 auditory neuropathy spectrum disorder 10.1
7 3-methylglutaconic aciduria, type iii 9.9
8 aceruloplasminemia 9.9
9 cavitary optic disc anomalies 9.9
10 sensorineural hearing loss 9.9
11 renovascular hypertension 9.9
12 dystonia 9.9
13 hemiplegic migraine 9.9

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:



Diseases related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss

Symptoms & Phenotypes for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

UMLS symptoms related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:


gait ataxia, hemiparesis, ataxia, truncal, cerebellar ataxia, reflex, abnormal

Drugs & Therapeutics for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss

Genetic Tests for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Genetic tests related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss 29 ATP1A3

Anatomical Context for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

MalaCards organs/tissues related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

41
Eye, Brain, Cerebellum

Publications for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Articles related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

# Title Authors Year
1
Novel pregnancy-triggered episodes of CAPOS syndrome. ( 29090527 )
2018
2
Childhood hearing loss is a key feature of CAPOS syndrome: A case report. ( 29287866 )
2018
3
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family. ( 28483396 )
2017
4
The Genetic Homogeneity of CAPOS Syndrome: Four New Cases With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. ( 27091223 )
2016
5
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation. ( 26453127 )
2015
6
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. ( 25056583 )
2014
7
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. ( 24468074 )
2014

Variations for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

ClinVar genetic disease variations for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
2 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh38 Chromosome 19, 41970405: 41970405
3 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh38 Chromosome 19, 41970275: 41970275
4 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh37 Chromosome 19, 42474427: 42474427
5 ATP1A3 NM_152296.4(ATP1A3): c.974G> A (p.Gly325Asp) single nucleotide variant Likely pathogenic rs863224847 GRCh38 Chromosome 19, 41984937: 41984937
6 ATP1A3 NM_152296.4(ATP1A3): c.974G> A (p.Gly325Asp) single nucleotide variant Likely pathogenic rs863224847 GRCh37 Chromosome 19, 42489089: 42489089
7 ATP1A3 NM_152296.4(ATP1A3): c.2224G> T (p.Asp742Tyr) single nucleotide variant Likely pathogenic rs1135401822 GRCh38 Chromosome 19, 41975668: 41975668
8 ATP1A3 NM_152296.4(ATP1A3): c.2224G> T (p.Asp742Tyr) single nucleotide variant Likely pathogenic rs1135401822 GRCh37 Chromosome 19, 42479820: 42479820
9 ATP1A3 NM_001256214.1(ATP1A3): c.499A> G (p.Met167Val) single nucleotide variant Likely pathogenic rs1135401821 GRCh37 Chromosome 19, 42490279: 42490279
10 ATP1A3 NM_001256214.1(ATP1A3): c.499A> G (p.Met167Val) single nucleotide variant Likely pathogenic rs1135401821 GRCh38 Chromosome 19, 41986127: 41986127

Expression for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

Search GEO for disease gene expression data for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and Sensorinural Hearing Loss.

Pathways for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

GO Terms for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy and...

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