ATCAY
MCID: CRB081
MIFTS: 39

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 57 58 72 29 6 44 70
Ataxia, Cerebellar, Cayman Type 57 13 39
Cayman Type Cerebellar Ataxia 12 15
Atcay 57 72
Cerebellar Ataxia Cayman Type 36
Cayman Cerebellar Ataxia 12
Cayman Ataxia 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
cerebellar ataxia, cayman type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060694
OMIM® 57 601238
KEGG 36 H01038
MeSH 44 C563363
ICD10 32 G11.0
ICD10 via Orphanet 33 G11.0
UMLS via Orphanet 71 C1832585
Orphanet 58 ORPHA94122
MedGen 41 C1832585
UMLS 70 C1832585

Summaries for Cerebellar Ataxia, Cayman Type

Disease Ontology : 12 An autosomal recessive 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 and dystonia 12, and has symptoms including cerebellar ataxia An important gene associated with Cerebellar Ataxia, Cayman Type is ATCAY (ATCAY Kinesin Light Chain Interacting Caytaxin). Affiliated tissues include retina, cortex and adrenal gland, and related phenotypes are nonprogressive cerebellar ataxia and nystagmus

KEGG : 36 Cerebellar ataxia cayman type (ATCAY) is an autosomal recessive disorder characterized by hypotonia, mental retardation, and cerebellar dysfunction with marked cerebellar hypoplasia. It has been reported that mutation of the ATCAY gene encoding Caytaxin causes ATCAY by interfering with normal splicing.

UniProtKB/Swiss-Prot : 72 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.

More information 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:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 dystonia 11.1
2 dystonia 12 11.0
3 hereditary ataxia 11.0
4 spastic ataxia, charlevoix-saguenay type 10.9
5 friedreich ataxia 2 10.9
6 charcot-marie-tooth disease, axonal, type 2k 10.9
7 charcot-marie-tooth disease, recessive intermediate a 10.9
8 cranio-facial dystonia 10.9
9 familial febrile seizures 10.9
10 ataxia and polyneuropathy, adult-onset 10.1
11 pheochromocytoma 10.0
12 adrenal gland pheochromocytoma 10.0
13 ataxia with vitamin e deficiency 10.0
14 neuroblastoma 1 9.9
15 west nile virus 9.9
16 dengue virus 9.9
17 neuroaxonal dystrophy 9.9
18 movement disease 9.9

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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nonprogressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002470
2 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
3 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 cerebellar hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001321
6 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
7 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
8 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
9 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
10 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
11 psychomotor retardation 31 HP:0025356
12 abnormal retinal morphology 58 Excluded (0%)
13 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Cerebellar Ataxia, Cayman Type:


cerebellar ataxia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.28 PIP5K1C
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.28 PIP5K1C SLC5A3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.28 SLC5A3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.28 RAX2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 9.28 RAX2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 9.28 PIP5K1C
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.28 RAX2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.28 SLC5A3

Drugs & Therapeutics for Cerebellar Ataxia, Cayman Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461

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 29 ATCAY

Anatomical Context for Cerebellar Ataxia, Cayman Type

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

40
Retina, Cortex, Adrenal Gland, Brain, Myeloid

Publications for Cerebellar Ataxia, Cayman Type

Articles related to Cerebellar Ataxia, Cayman Type:

(show all 21)
# Title Authors PMID Year
1
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. 57 6 61
14556008 2003
2
The impact of L1 retrotransposons on the human genome. 57
9590283 1998
3
The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3. 57
8812488 1996
4
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. 57
8845847 1996
5
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. 57
8595404 1995
6
Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models. 61
31936863 2020
7
Homologs of Human Dengue-Resistance Genes, FKBP1B and ATCAY, Confer Antiviral Resistance in Aedes aegypti Mosquitoes. 61
30717390 2019
8
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders. 61
29449188 2018
9
Vocal development in dystonic rats. 61
25907786 2015
10
Predicted trans-acting siRNAs in the human brain. 61
25654231 2015
11
Alterations in cerebellar physiology are associated with a stiff-legged gait in Atcay(ji-hes) mice. 61
24727095 2014
12
Identification of novel molecular markers for prognosis estimation of acute myeloid leukemia: over-expression of PDCD7, FIS1 and Ang2 may indicate poor prognosis in pretreatment patients with acute myeloid leukemia. 61
24416201 2014
13
Clinical comparison of overlapping deletions of 19p13.3. 61
23610052 2013
14
Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity. 61
23226316 2012
15
Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing. 61
19436707 2009
16
Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. 61
18557972 2008
17
Nerve growth factor stimulates interaction of Cayman ataxia protein BNIP-H/Caytaxin with peptidyl-prolyl isomerase Pin1 in differentiating neurons. 61
18628984 2008
18
Caytaxin deficiency disrupts signaling pathways in cerebellar cortex. 61
17092653 2007
19
Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels. 61
16899818 2006
20
Caytaxin deficiency causes generalized dystonia in rats. 61
16246457 2005
21
Characterization of a mutagenic B1 retrotransposon insertion in the jittery mouse. 61
15221784 2004

Variations for Cerebellar Ataxia, Cayman Type

ClinVar genetic disease variations for Cerebellar Ataxia, Cayman Type:

6 (show top 50) (show all 141)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATCAY ATCAY, IVS9, G-T, +3, SER301ARG SNV Pathogenic 2491 GRCh37:
GRCh38:
2 ATCAY NM_033064.5(ATCAY):c.370G>A (p.Val124Met) SNV Uncertain significance 1029011 GRCh37: 19:3907743-3907743
GRCh38: 19:3907745-3907745
3 ATCAY NM_033064.5(ATCAY):c.776G>A (p.Arg259Gln) SNV Uncertain significance 1032317 GRCh37: 19:3909612-3909612
GRCh38: 19:3909614-3909614
4 ATCAY NM_033064.5(ATCAY):c.*3319C>T SNV Uncertain significance 894441 GRCh37: 19:3927909-3927909
GRCh38: 19:3927911-3927911
5 ATCAY NM_033064.5(ATCAY):c.*3202G>A SNV Uncertain significance 894440 GRCh37: 19:3927792-3927792
GRCh38: 19:3927794-3927794
6 ATCAY NM_033064.5(ATCAY):c.*3136A>T SNV Uncertain significance 894439 GRCh37: 19:3927726-3927726
GRCh38: 19:3927728-3927728
7 ATCAY NM_033064.5(ATCAY):c.*3124C>T SNV Uncertain significance 894438 GRCh37: 19:3927714-3927714
GRCh38: 19:3927716-3927716
8 ATCAY NM_033064.5(ATCAY):c.*612C>T SNV Uncertain significance 894370 GRCh37: 19:3925202-3925202
GRCh38: 19:3925204-3925204
9 ATCAY NM_033064.5(ATCAY):c.*608G>C SNV Uncertain significance 894369 GRCh37: 19:3925198-3925198
GRCh38: 19:3925200-3925200
10 ATCAY NM_033064.5(ATCAY):c.*599T>C SNV Uncertain significance 894368 GRCh37: 19:3925189-3925189
GRCh38: 19:3925191-3925191
11 ATCAY NM_033064.5(ATCAY):c.*512G>A SNV Uncertain significance 894367 GRCh37: 19:3925102-3925102
GRCh38: 19:3925104-3925104
12 ATCAY NM_033064.5(ATCAY):c.721C>T (p.Arg241Trp) SNV Uncertain significance 894335 GRCh37: 19:3909557-3909557
GRCh38: 19:3909559-3909559
13 ATCAY NM_033064.5(ATCAY):c.647+15G>C SNV Uncertain significance 894334 GRCh37: 19:3908383-3908383
GRCh38: 19:3908385-3908385
14 ATCAY NM_033064.5(ATCAY):c.647+15G>A SNV Uncertain significance 894333 GRCh37: 19:3908383-3908383
GRCh38: 19:3908385-3908385
15 ATCAY NM_033064.5(ATCAY):c.647+14C>T SNV Uncertain significance 894332 GRCh37: 19:3908382-3908382
GRCh38: 19:3908384-3908384
16 ATCAY NM_033064.5(ATCAY):c.*3018C>T SNV Uncertain significance 894041 GRCh37: 19:3927608-3927608
GRCh38: 19:3927610-3927610
17 ATCAY NM_033064.5(ATCAY):c.*1322T>G SNV Uncertain significance 894008 GRCh37: 19:3925912-3925912
GRCh38: 19:3925914-3925914
18 ATCAY NM_033064.5(ATCAY):c.*1276G>A SNV Uncertain significance 894007 GRCh37: 19:3925866-3925866
GRCh38: 19:3925868-3925868
19 ATCAY NM_033064.5(ATCAY):c.*1217A>C SNV Uncertain significance 894006 GRCh37: 19:3925807-3925807
GRCh38: 19:3925809-3925809
20 ATCAY NM_033064.5(ATCAY):c.*430G>T SNV Uncertain significance 893973 GRCh37: 19:3925020-3925020
GRCh38: 19:3925022-3925022
21 ATCAY NM_033064.5(ATCAY):c.*420C>T SNV Uncertain significance 893972 GRCh37: 19:3925010-3925010
GRCh38: 19:3925012-3925012
22 ATCAY NM_033064.5(ATCAY):c.*391C>T SNV Uncertain significance 893971 GRCh37: 19:3924981-3924981
GRCh38: 19:3924983-3924983
23 ATCAY NM_033064.5(ATCAY):c.420C>T (p.Asp140=) SNV Uncertain significance 893664 GRCh37: 19:3907793-3907793
GRCh38: 19:3907795-3907795
24 ATCAY NM_033064.5(ATCAY):c.402C>T (p.Ser134=) SNV Uncertain significance 893663 GRCh37: 19:3907775-3907775
GRCh38: 19:3907777-3907777
25 ATCAY NM_033064.5(ATCAY):c.379G>A (p.Ala127Thr) SNV Uncertain significance 893662 GRCh37: 19:3907752-3907752
GRCh38: 19:3907754-3907754
26 ATCAY NM_033064.5(ATCAY):c.98G>A (p.Gly33Glu) SNV Uncertain significance 715321 rs147031440 GRCh37: 19:3902505-3902505
GRCh38: 19:3902507-3902507
27 ATCAY NM_033064.5(ATCAY):c.*2357G>C SNV Uncertain significance 893188 GRCh37: 19:3926947-3926947
GRCh38: 19:3926949-3926949
28 ATCAY NM_033064.5(ATCAY):c.*1154G>A SNV Uncertain significance 893162 GRCh37: 19:3925744-3925744
GRCh38: 19:3925746-3925746
29 ATCAY NM_033064.5(ATCAY):c.*1051T>C SNV Uncertain significance 893161 GRCh37: 19:3925641-3925641
GRCh38: 19:3925643-3925643
30 ATCAY NM_033064.5(ATCAY):c.*958G>A SNV Uncertain significance 893160 GRCh37: 19:3925548-3925548
GRCh38: 19:3925550-3925550
31 ATCAY NM_033064.5(ATCAY):c.*3415G>A SNV Uncertain significance 893010 GRCh37: 19:3928005-3928005
GRCh38: 19:3928007-3928007
32 ATCAY NM_033064.5(ATCAY):c.*3404C>T SNV Uncertain significance 893009 GRCh37: 19:3927994-3927994
GRCh38: 19:3927996-3927996
33 ATCAY NM_033064.5(ATCAY):c.*3377G>A SNV Uncertain significance 893008 GRCh37: 19:3927967-3927967
GRCh38: 19:3927969-3927969
34 ATCAY NM_033064.5(ATCAY):c.*3332C>A SNV Uncertain significance 893007 GRCh37: 19:3927922-3927922
GRCh38: 19:3927924-3927924
35 ATCAY NM_033064.5(ATCAY):c.*2289C>T SNV Uncertain significance 892971 GRCh37: 19:3926879-3926879
GRCh38: 19:3926881-3926881
36 ATCAY NM_033064.5(ATCAY):c.*2282C>T SNV Uncertain significance 892970 GRCh37: 19:3926872-3926872
GRCh38: 19:3926874-3926874
37 ATCAY NM_033064.5(ATCAY):c.*1978G>A SNV Uncertain significance 892969 GRCh37: 19:3926568-3926568
GRCh38: 19:3926570-3926570
38 ATCAY NM_033064.5(ATCAY):c.*1801T>C SNV Uncertain significance 892968 GRCh37: 19:3926391-3926391
GRCh38: 19:3926393-3926393
39 ATCAY NM_033064.5(ATCAY):c.*1660T>G SNV Uncertain significance 892967 GRCh37: 19:3926250-3926250
GRCh38: 19:3926252-3926252
40 ATCAY NM_033064.5(ATCAY):c.*929G>A SNV Uncertain significance 892929 GRCh37: 19:3925519-3925519
GRCh38: 19:3925521-3925521
41 ATCAY NM_033064.5(ATCAY):c.*212C>T SNV Uncertain significance 893706 GRCh37: 19:3924802-3924802
GRCh38: 19:3924804-3924804
42 ATCAY NM_033064.5(ATCAY):c.*2395G>A SNV Uncertain significance 893190 GRCh37: 19:3926985-3926985
GRCh38: 19:3926987-3926987
43 ATCAY NM_033064.5(ATCAY):c.*838G>A SNV Uncertain significance 892927 GRCh37: 19:3925428-3925428
GRCh38: 19:3925430-3925430
44 ATCAY NM_033064.5(ATCAY):c.1106+10A>T SNV Uncertain significance 710642 rs199991972 GRCh37: 19:3920806-3920806
GRCh38: 19:3920808-3920808
45 ATCAY NM_033064.5(ATCAY):c.1060C>T (p.Pro354Ser) SNV Uncertain significance 892891 GRCh37: 19:3918862-3918862
GRCh38: 19:3918864-3918864
46 ATCAY NM_033064.5(ATCAY):c.1053G>A (p.Glu351=) SNV Uncertain significance 789346 rs369876142 GRCh37: 19:3918855-3918855
GRCh38: 19:3918857-3918857
47 ATCAY NM_033064.5(ATCAY):c.1002C>T (p.Ser334=) SNV Uncertain significance 892890 GRCh37: 19:3918804-3918804
GRCh38: 19:3918806-3918806
48 ATCAY NM_033064.5(ATCAY):c.957C>T (p.Cys319=) SNV Uncertain significance 892889 GRCh37: 19:3913846-3913846
GRCh38: 19:3913848-3913848
49 ATCAY NM_033064.5(ATCAY):c.359-14C>T SNV Uncertain significance 892852 GRCh37: 19:3907718-3907718
GRCh38: 19:3907720-3907720
50 ATCAY NM_033064.5(ATCAY):c.283G>A (p.Val95Met) SNV Uncertain significance 892696 GRCh37: 19:3905578-3905578
GRCh38: 19:3905580-3905580

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

72
# Symbol AA change Variation ID SNP ID
1 ATCAY p.Ser301Arg VAR_017164

Expression for Cerebellar Ataxia, Cayman Type

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

Pathways for Cerebellar Ataxia, Cayman Type

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 intermembrane lipid transfer GO:0120009 9.16 PITPNA C2CD2L
2 phospholipid transport GO:0015914 8.96 PITPNA C2CD2L
3 polyphosphate catabolic process GO:0006798 8.62 BNIP2 ATCAY

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol binding GO:0035091 9.16 PITPNA C2CD2L
2 phosphatidylinositol transporter activity GO:0008526 8.96 PITPNA C2CD2L
3 exopolyphosphatase activity GO:0004309 8.62 BNIP2 ATCAY

Sources for Cerebellar Ataxia, Cayman Type

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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