ATCAY
MCID: CRB081
MIFTS: 34

Cerebellar Ataxia, Cayman Type (ATCAY)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia, Cayman Type

MalaCards integrated aliases for Cerebellar Ataxia, Cayman Type:

Name: Cerebellar Ataxia, Cayman Type 58 60 76 30 6 45 74
Ataxia, Cerebellar, Cayman Type 58 13 41
Cayman Type Cerebellar Ataxia 12 15
Atcay 58 76
Cerebellar Ataxia Cayman Type 38
Cayman Cerebellar Ataxia 12
Cayman Ataxia 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cerebellar ataxia, cayman type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060694
OMIM 58 601238
KEGG 38 H01038
MeSH 45 C563363
ICD10 34 G11.0
ICD10 via Orphanet 35 G11.0
UMLS via Orphanet 75 C1832585
Orphanet 60 ORPHA94122
MedGen 43 C1832585
UMLS 74 C1832585

Summaries for Cerebellar Ataxia, Cayman Type

Disease Ontology : 12 A cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has material basis in mutation in the ATCAY gene on chromosome 19p13.3.

MalaCards based summary : Cerebellar Ataxia, Cayman Type, also known as ataxia, cerebellar, cayman type, is related to dystonia 12 and mitochondrial dna depletion syndrome 7, and has symptoms including cerebellar ataxia An important gene associated with Cerebellar Ataxia, Cayman Type is ATCAY (ATCAY Kinesin Light Chain Interacting Caytaxin), and among its related pathways/superpathways are Brain-Derived Neurotrophic Factor (BDNF) signaling pathway and Endocytic Trafficking of EGFR. Affiliated tissues include retina, and related phenotypes are nonprogressive cerebellar ataxia and nystagmus

UniProtKB/Swiss-Prot : 76 Cerebellar ataxia, cayman type: Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood.

Description from OMIM: 601238

Related Diseases for Cerebellar Ataxia, Cayman Type

Diseases related to Cerebellar Ataxia, Cayman Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 12 11.2
2 mitochondrial dna depletion syndrome 7 11.2
3 spinocerebellar ataxia 26 11.2
4 dystonia 11.2
5 ataxia and polyneuropathy, adult-onset 10.1

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Cayman Type:



Diseases related to Cerebellar Ataxia, Cayman Type

Symptoms & Phenotypes for Cerebellar Ataxia, Cayman Type

Human phenotypes related to Cerebellar Ataxia, Cayman Type:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nonprogressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002470
2 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
3 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
4 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
5 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
6 intention tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002080
7 cerebellar hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001321
8 truncal ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002078
9 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
10 broad-based gait 60 33 frequent (33%) Frequent (79-30%) HP:0002136
11 muscular hypotonia 33 HP:0001252
12 abnormal retinal morphology 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
Eyes:
nystagmus
normal retina

Misc:
identified in a grand cayman island population isolate

Neuro:
intention tremor
cerebellar ataxia
hypotonia
dysarthric speech
marked psychomotor retardation
more

Clinical features from OMIM:

601238

UMLS symptoms related to Cerebellar Ataxia, Cayman Type:


cerebellar ataxia

Drugs & Therapeutics for Cerebellar Ataxia, Cayman Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cerebellar Ataxia, Cayman Type

Cochrane evidence based reviews: cerebellar ataxia, cayman type

Genetic Tests for Cerebellar Ataxia, Cayman Type

Genetic tests related to Cerebellar Ataxia, Cayman Type:

# Genetic test Affiliating Genes
1 Cerebellar Ataxia, Cayman Type 30 ATCAY

Anatomical Context for Cerebellar Ataxia, Cayman Type

MalaCards organs/tissues related to Cerebellar Ataxia, Cayman Type:

42
Retina

Publications for Cerebellar Ataxia, Cayman Type

Articles related to Cerebellar Ataxia, Cayman Type:

# Title Authors Year
1
Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity. ( 23226316 )
2012
2
Cayman ataxia-related protein is a presynapse-specific caspase-3 substrate. ( 21369758 )
2011
3
Cayman ataxia protein caytaxin is transported by kinesin along neurites through binding to kinesin light chains. ( 19861499 )
2009
4
Nerve growth factor stimulates interaction of Cayman ataxia protein BNIP-H/Caytaxin with peptidyl-prolyl isomerase Pin1 in differentiating neurons. ( 18628984 )
2008
5
Expression and localization of Cayman ataxia-related protein, Caytaxin, is regulated in a developmental- and spatial-dependent manner. ( 17157273 )
2007
6
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. ( 14556008 )
2003

Variations for Cerebellar Ataxia, Cayman Type

UniProtKB/Swiss-Prot genetic disease variations for Cerebellar Ataxia, Cayman Type:

76
# Symbol AA change Variation ID SNP ID
1 ATCAY p.Ser301Arg VAR_017164

ClinVar genetic disease variations for Cerebellar Ataxia, Cayman Type:

6 (show top 50) (show all 145)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATCAY ATCAY, IVS9, G-T, +3, SER301ARG single nucleotide variant Pathogenic
2 ATCAY NM_033064.4(ATCAY): c.-198C> G single nucleotide variant Uncertain significance rs553381633 GRCh37 Chromosome 19, 3880850: 3880850
3 ATCAY NM_033064.4(ATCAY): c.-198C> G single nucleotide variant Uncertain significance rs553381633 GRCh38 Chromosome 19, 3880852: 3880852
4 ATCAY NM_033064.4(ATCAY): c.36C> T (p.Asn12=) single nucleotide variant Uncertain significance rs368213837 GRCh37 Chromosome 19, 3885801: 3885801
5 ATCAY NM_033064.4(ATCAY): c.36C> T (p.Asn12=) single nucleotide variant Uncertain significance rs368213837 GRCh38 Chromosome 19, 3885803: 3885803
6 ATCAY NM_033064.4(ATCAY): c.678G> A (p.Val226=) single nucleotide variant Uncertain significance rs886054415 GRCh38 Chromosome 19, 3909516: 3909516
7 ATCAY NM_033064.4(ATCAY): c.568G> A (p.Ala190Thr) single nucleotide variant Uncertain significance rs537155754 GRCh38 Chromosome 19, 3908291: 3908291
8 ATCAY NM_033064.4(ATCAY): c.568G> A (p.Ala190Thr) single nucleotide variant Uncertain significance rs537155754 GRCh37 Chromosome 19, 3908289: 3908289
9 ATCAY NM_033064.4(ATCAY): c.678G> A (p.Val226=) single nucleotide variant Uncertain significance rs886054415 GRCh37 Chromosome 19, 3909514: 3909514
10 ATCAY NM_033064.4(ATCAY): c.810C> T (p.Ile270=) single nucleotide variant Likely benign rs61746441 GRCh38 Chromosome 19, 3910833: 3910833
11 ATCAY NM_033064.4(ATCAY): c.810C> T (p.Ile270=) single nucleotide variant Likely benign rs61746441 GRCh37 Chromosome 19, 3910831: 3910831
12 ATCAY NM_033064.4(ATCAY): c.*143G> A single nucleotide variant Uncertain significance rs537298270 GRCh38 Chromosome 19, 3924735: 3924735
13 ATCAY NM_033064.4(ATCAY): c.*143G> A single nucleotide variant Uncertain significance rs537298270 GRCh37 Chromosome 19, 3924733: 3924733
14 ATCAY NM_033064.4(ATCAY): c.*193delT deletion Benign rs796133913 GRCh37 Chromosome 19, 3924783: 3924783
15 ATCAY NM_033064.4(ATCAY): c.*193delT deletion Benign rs796133913 GRCh38 Chromosome 19, 3924785: 3924785
16 ATCAY NM_033064.4(ATCAY): c.*391C> A single nucleotide variant Uncertain significance rs765579267 GRCh37 Chromosome 19, 3924981: 3924981
17 ATCAY NM_033064.4(ATCAY): c.*391C> A single nucleotide variant Uncertain significance rs765579267 GRCh38 Chromosome 19, 3924983: 3924983
18 ATCAY NM_033064.4(ATCAY): c.*1193T> A single nucleotide variant Uncertain significance rs192536222 GRCh38 Chromosome 19, 3925785: 3925785
19 ATCAY NM_033064.4(ATCAY): c.*1193T> A single nucleotide variant Uncertain significance rs192536222 GRCh37 Chromosome 19, 3925783: 3925783
20 ATCAY NM_033064.4(ATCAY): c.*1423T> A single nucleotide variant Likely benign rs184437292 GRCh38 Chromosome 19, 3926015: 3926015
21 ATCAY NM_033064.4(ATCAY): c.*1423T> A single nucleotide variant Likely benign rs184437292 GRCh37 Chromosome 19, 3926013: 3926013
22 ATCAY NM_033064.4(ATCAY): c.*1540C> A single nucleotide variant Likely benign rs140917952 GRCh38 Chromosome 19, 3926132: 3926132
23 ATCAY NM_033064.4(ATCAY): c.*1540C> A single nucleotide variant Likely benign rs140917952 GRCh37 Chromosome 19, 3926130: 3926130
24 ATCAY NM_033064.4(ATCAY): c.*2586A> G single nucleotide variant Benign rs8104659 GRCh38 Chromosome 19, 3927178: 3927178
25 ATCAY NM_033064.4(ATCAY): c.*2586A> G single nucleotide variant Benign rs8104659 GRCh37 Chromosome 19, 3927176: 3927176
26 ATCAY NM_033064.4(ATCAY): c.*2742C> T single nucleotide variant Uncertain significance rs769121113 GRCh38 Chromosome 19, 3927334: 3927334
27 ATCAY NM_033064.4(ATCAY): c.*2742C> T single nucleotide variant Uncertain significance rs769121113 GRCh37 Chromosome 19, 3927332: 3927332
28 ATCAY NM_033064.4(ATCAY): c.*3203G> A single nucleotide variant Uncertain significance rs539627639 GRCh37 Chromosome 19, 3927793: 3927793
29 ATCAY NM_033064.4(ATCAY): c.*3203G> A single nucleotide variant Uncertain significance rs539627639 GRCh38 Chromosome 19, 3927795: 3927795
30 ATCAY NM_033064.4(ATCAY): c.-398C> A single nucleotide variant Uncertain significance rs186140929 GRCh37 Chromosome 19, 3880650: 3880650
31 ATCAY NM_033064.4(ATCAY): c.-398C> A single nucleotide variant Uncertain significance rs186140929 GRCh38 Chromosome 19, 3880652: 3880652
32 ATCAY NM_033064.4(ATCAY): c.-375G> T single nucleotide variant Uncertain significance rs886054373 GRCh37 Chromosome 19, 3880673: 3880673
33 ATCAY NM_033064.4(ATCAY): c.-375G> T single nucleotide variant Uncertain significance rs886054373 GRCh38 Chromosome 19, 3880675: 3880675
34 ATCAY NM_033064.4(ATCAY): c.137-11T> C single nucleotide variant Likely benign rs73919387 GRCh38 Chromosome 19, 3905423: 3905423
35 ATCAY NM_033064.4(ATCAY): c.137-11T> C single nucleotide variant Likely benign rs73919387 GRCh37 Chromosome 19, 3905421: 3905421
36 ATCAY NM_033064.4(ATCAY): c.162C> T (p.Asn54=) single nucleotide variant Uncertain significance rs373392142 GRCh38 Chromosome 19, 3905459: 3905459
37 ATCAY NM_033064.4(ATCAY): c.162C> T (p.Asn54=) single nucleotide variant Uncertain significance rs373392142 GRCh37 Chromosome 19, 3905457: 3905457
38 ATCAY NM_033064.4(ATCAY): c.405G> A (p.Ala135=) single nucleotide variant Uncertain significance rs202077180 GRCh38 Chromosome 19, 3907780: 3907780
39 ATCAY NM_033064.4(ATCAY): c.405G> A (p.Ala135=) single nucleotide variant Uncertain significance rs202077180 GRCh37 Chromosome 19, 3907778: 3907778
40 ATCAY NM_033064.4(ATCAY): c.544+6dupA duplication Uncertain significance rs749475336 GRCh38 Chromosome 19, 3907925: 3907925
41 ATCAY NM_033064.4(ATCAY): c.544+6dupA duplication Uncertain significance rs749475336 GRCh37 Chromosome 19, 3907923: 3907923
42 ATCAY NM_033064.4(ATCAY): c.544+16dupC duplication Uncertain significance rs140914543 GRCh38 Chromosome 19, 3907935: 3907935
43 ATCAY NM_033064.4(ATCAY): c.544+16dupC duplication Uncertain significance rs140914543 GRCh37 Chromosome 19, 3907933: 3907933
44 ATCAY NM_033064.4(ATCAY): c.647+10C> T single nucleotide variant Uncertain significance rs181866005 GRCh38 Chromosome 19, 3908380: 3908380
45 ATCAY NM_033064.4(ATCAY): c.647+10C> T single nucleotide variant Uncertain significance rs181866005 GRCh37 Chromosome 19, 3908378: 3908378
46 ATCAY NM_033064.4(ATCAY): c.866+6A> G single nucleotide variant Likely benign rs116660680 GRCh38 Chromosome 19, 3910895: 3910895
47 ATCAY NM_033064.4(ATCAY): c.866+6A> G single nucleotide variant Likely benign rs116660680 GRCh37 Chromosome 19, 3910893: 3910893
48 ATCAY NM_033064.4(ATCAY): c.1074-14T> C single nucleotide variant Likely benign rs10420591 GRCh38 Chromosome 19, 3920752: 3920752
49 ATCAY NM_033064.4(ATCAY): c.1074-14T> C single nucleotide variant Likely benign rs10420591 GRCh37 Chromosome 19, 3920750: 3920750
50 ATCAY NM_033064.4(ATCAY): c.*192_*193delTT deletion Uncertain significance rs796133913 GRCh37 Chromosome 19, 3924782: 3924783

Expression for Cerebellar Ataxia, Cayman Type

Search GEO for disease gene expression data for Cerebellar Ataxia, Cayman Type.

Pathways for Cerebellar Ataxia, Cayman Type

Pathways related to Cerebellar Ataxia, Cayman Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 NGF SRC
2
Show member pathways
10.85 NGF SRC
3 10.13 NGF SRC

GO Terms for Cerebellar Ataxia, Cayman Type

Biological processes related to Cerebellar Ataxia, Cayman Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.16 NGF SRC
2 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 8.96 NGF SRC
3 neurotrophin TRK receptor signaling pathway GO:0048011 8.62 NGF SRC

Molecular functions related to Cerebellar Ataxia, Cayman Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 8.96 FKBP1C FKBP7
2 peptidyl-prolyl cis-trans isomerase activity GO:0003755 8.62 FKBP1C FKBP7

Sources for Cerebellar Ataxia, Cayman Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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