CAPOS
MCID: CRB189
MIFTS: 28

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic 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 Sensorineural Hearing Loss:

Name: Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 58 76
Capos Syndrome 58 60 76 38 41 74
Capos 58 76
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
recurrent acute episodes of neurologic deterioration associated with febrile illnesses
acute episodes decrease with age and disappear
residual neurologic deficits are slowly progressive
visual and hearing loss are slowly progressive
four unrelated families of caucasian european descent have been reported (last curated february 2015)


HPO:

33
cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 58 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) is an autosomal dominant neurologic disorder characterized by early-childhood onset of recurrent episodes of acute ataxic encephalopathy associated with febrile illnesses. These acute episodes tend to decrease with time, but the neurologic sequelae are permanent and progressive, resulting in gait and limb ataxia and areflexia. Affected individuals also develop progressive visual impairment due to optic atrophy and sensorineural hearing loss beginning in childhood. More variable features include abnormal eye movements, pes cavus, and dysphagia (summary by Demos et al., 2014). (601338)

MalaCards based summary : Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss, also known as capos syndrome, is related to cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss and 3-methylglutaconic aciduria, type iii, and has symptoms including gait ataxia, hemiparesis and ataxia, truncal. An important gene associated with Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3). Affiliated tissues include eye, and related phenotypes are ataxia and muscle weakness

UniProtKB/Swiss-Prot : 76 Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss: An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies.

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

Diseases related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural 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 sensorinural hearing loss 11.7
2 3-methylglutaconic aciduria, type iii 10.6
3 aceruloplasminemia 10.6
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
5 sensorineural hearing loss 10.6
6 alternating hemiplegia of childhood 10.1
7 hemiplegia 10.1
8 neuropathy 10.1
9 auditory neuropathy spectrum disorder 10.1
10 cavitary optic disc anomalies 10.0
11 renovascular hypertension 10.0
12 dystonia 10.0
13 hemiplegic migraine 10.0

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



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

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

Human phenotypes related to Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
3 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
4 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
5 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
6 encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001298
7 abnormality of eye movement 60 33 occasional (7.5%) Occasional (29-5%) HP:0000496
8 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
9 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
10 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
11 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
12 dystonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001332
13 autistic behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000729
14 nystagmus 33 HP:0000639
15 dysarthria 33 HP:0001260
16 blindness 33 HP:0000618
17 progressive visual loss 33 HP:0000529
18 gait ataxia 33 HP:0002066
19 dysmetria 33 HP:0001310
20 truncal ataxia 33 HP:0002078
21 hemiparesis 33 HP:0001269
22 incoordination 33 HP:0002311
23 progressive sensorineural hearing impairment 33 HP:0000408
24 episodic ataxia 33 HP:0002131
25 episodic generalized hypotonia 33 HP:0006852

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
optic atrophy
blindness
visual loss, progressive
eye movement abnormalities

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
hypotonia
weakness, episodic

Neurologic Behavioral Psychiatric Manifestations:
autistic features (1 family)

Neurologic Central Nervous System:
dysarthria
gait ataxia
dysmetria
dystonia
truncal ataxia
more
Neurologic Peripheral Nervous System:
areflexia

Head And Neck Ears:
sensorineural hearing loss, progressive

Clinical features from OMIM:

601338

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

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

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

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

42
Eye

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

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

# Title Authors Year
1
Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome. ( 30904181 )
2019
2
Novel pregnancy-triggered episodes of CAPOS syndrome. ( 29090527 )
2018
3
Childhood hearing loss is a key feature of CAPOS syndrome: A case report. ( 29287866 )
2018
4
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family. ( 28483396 )
2017
5
The Genetic Homogeneity of CAPOS Syndrome: Four New Cases With the c.2452G&amp;gt;A (p.Glu818Lys) Mutation in the ATP1A3 Gene. ( 27091223 )
2016
6
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation. ( 26453127 )
2015
7
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. ( 25056583 )
2014
8
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. ( 24468074 )
2014
9
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. ( 8733056 )
1996

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

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss:

76
# Symbol AA change Variation ID SNP ID
1 ATP1A3 p.Glu818Lys VAR_070772 rs587777771

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP1A3 NM_152296.4(ATP1A3): c.974G> A (p.Gly325Asp) single nucleotide variant Likely pathogenic rs863224847 GRCh38 Chromosome 19, 41984937: 41984937
2 ATP1A3 NM_152296.4(ATP1A3): c.974G> A (p.Gly325Asp) single nucleotide variant Likely pathogenic rs863224847 GRCh37 Chromosome 19, 42489089: 42489089
3 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh37 Chromosome 19, 42474557: 42474557
4 ATP1A3 NM_152296.5(ATP1A3): c.2401G> A (p.Asp801Asn) single nucleotide variant Pathogenic rs80356537 GRCh38 Chromosome 19, 41970405: 41970405
5 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh38 Chromosome 19, 41970275: 41970275
6 ATP1A3 NM_152296.4(ATP1A3): c.2452G> A (p.Glu818Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs587777771 GRCh37 Chromosome 19, 42474427: 42474427
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 Sensorineural 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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