CAMRQ1
MCID: CRB185
MIFTS: 53

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:

Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 57 12 72 29 6
Dysequilibrium Syndrome 57 73 20 58 72 29 6 70
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 57 29 13 6
Camrq1 57 25 72
Des 57 20 72
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 1 57 72
Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 12 15
Cerebellar Hypoplasia, Vldlr-Associated 57 43
Vldlr Cerebellar Hypoplasia 12 25
Uner Tan Syndrome 12 58
Vldlrch 20 43
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 43
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 43
Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive 57
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome 58
Congenital Cerebellar Ataxia and Mental Retardation Autosomal Recessive 72
Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome 58
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1 25
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 43
Cerebellar Disorder, Nonprogressive, with Mental Retardation 43
Cerebellar Hypoplasia, Vldlr Associated 20
Vldlr-Associated Cerebellar Hypoplasia 43
Cerebellar Hypoplasia Vldlr-Associated 72
Dialysis Disequilibrium Syndrome 70
Dysequilibrium Syndrome-Vldlr 43
Dysequilibrium Syndrome; Des 57
Camrq Syndrome 58
Des-Vldlr 43
Vldlr-Ch 43
Chmrq1 43
Camrq 12
Uts 58

Characteristics:

Orphanet epidemiological data:

58
dysequilibrium syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
congenital onset
nonprogressive disorder
some patients acquire late ambulation

Inheritance:
autosomal recessive


HPO:

31
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset nonprogressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1766 Definition Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. Epidemiology To date, more than 50 individuals have been reported in the world literature. Clinical description DES is a congenital disorder characterized by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature and pes planus. Etiology Etiological subtypes of DES have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. VLDLR encodes the very low density lipoprotein receptor (VLDLR) which is involved in neuronal migration in the cerebral cortex and cerebellum. CA8 encodes a carbonic-anhydrase related protein, whose biological function is not yet fully understood. The function of WDR81 is still unknown. ATP8A2 encodes an ATPase which is mainly expressed in brain tissue, with the highest levels found in the cerebellum, and that may be critical for the developmental processes of the central nervous system. Genetic counseling Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child.

MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1, also known as dysequilibrium syndrome, is related to cerebellar ataxia, nonprogressive, with mental retardation and cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, and has symptoms including dysdiadochokinesis, gait ataxia and action tremor. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 is VLDLR (Very Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. The drug carbamide peroxide has been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and cortex, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.

MedlinePlus Genetics : 43 VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. Children with VLDLR-associated cerebellar hypoplasia may learn to walk later in childhood, usually after the age of 6, although some are never able to walk independently. In one Turkish family, affected people walk on their hands and feet (quadrupedal locomotion).Additional features of VLDLR-associated cerebellar hypoplasia include moderate to profound intellectual disability, impaired speech (dysarthria) or a lack of speech, and eyes that do not look in the same direction (strabismus). Some affected individuals have also had flat feet (pes planus), seizures, and short stature. Studies suggest that VLDLR-associated cerebellar hypoplasia does not significantly affect a person's life expectancy.

OMIM® : 57 CAMRQ1 is an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). (224050) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1: A congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures.

Wikipedia : 73 Dysequilibrium syndrome may refer... more...

GeneReviews: NBK1874

Related Diseases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Diseases in the Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 family:

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4

Diseases related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, nonprogressive, with mental retardation 30.3 WDR81 VLDLR
2 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.9
3 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 10.9
4 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10.9
5 ataxia and polyneuropathy, adult-onset 10.3
6 infantile hypotonia 10.3
7 cerebellar hypoplasia 10.2
8 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.2
9 disease by infectious agent 10.2
10 tubulinopathy 10.2
11 poliomyelitis 10.2
12 tremor 10.2
13 barber-say syndrome 10.1 WDR81 CA8 ATP8A2
14 cenani-lenz syndactyly syndrome 10.1 WDR81 CA8 ATP8A2
15 microlissencephaly 10.1 WDR81 TUBB2B
16 familial intrahepatic cholestasis 10.1 TMEM30A ATP8B1 ATP8A1
17 bone sarcoma 10.0
18 sarcoma 10.0
19 gonadal dysgenesis 10.0
20 turner syndrome 10.0
21 spindle cell sarcoma 10.0
22 soft tissue sarcoma 10.0
23 uterine sarcoma 10.0
24 strabismus 10.0
25 mechanical strabismus 10.0
26 hypotonia 10.0
27 hypoparathyroidism, x-linked 10.0 ATP11C ATP11B ATP11A
28 lissencephaly 2 10.0 VLDLR TUBB2B
29 glucose intolerance 9.9
30 vasculitis 9.9
31 succinic semialdehyde dehydrogenase deficiency 9.9
32 congenital disorder of glycosylation, type in 9.9
33 alacrima, achalasia, and mental retardation syndrome 9.9
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
35 autosomal recessive cerebellar ataxia 9.9
36 sensorineural hearing loss 9.9
37 cerebral palsy 9.9
38 acute kidney failure 9.9
39 viral encephalitis 9.9
40 end stage renal disease 9.9
41 opsoclonus-myoclonus syndrome 9.9
42 dysphagia 9.9
43 myoclonus 9.9
44 progressive familial intrahepatic cholestasis 9.4 TMEM30B TMEM30A ATP8B3 ATP8B2 ATP8B1 ATP8A2
45 robinow syndrome 9.2 TMEM30CP TMEM30A ATP9A ATP8B3 ATP8B2 ATP8B1
46 robinow syndrome, autosomal dominant 2 8.9 TMEM30CP TMEM30B TMEM30A ATP9A ATP8B3 ATP8B2
47 cholestasis, benign recurrent intrahepatic, 1 8.5 TMEM30CP TMEM30B TMEM30A ATP9A ATP8B4 ATP8B3
48 cholestasis, progressive familial intrahepatic, 1 8.5 TMEM30CP TMEM30B TMEM30A ATP9A ATP8B4 ATP8B3

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:



Diseases related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

Symptoms & Phenotypes for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
5 hypotonia 31 hallmark (90%) HP:0001252
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
8 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
9 cerebral palsy 58 31 frequent (33%) Frequent (79-30%) HP:0100021
10 seizure 31 occasional (7.5%) HP:0001250
11 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
12 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
13 seizures 58 Frequent (79-30%)
14 dysarthria 31 HP:0001260
15 muscular hypotonia 58 Very frequent (99-80%)
16 global developmental delay 31 HP:0001263
17 delayed speech and language development 31 HP:0000750
18 pes planus 31 HP:0001763
19 abnormality of movement 58 Frequent (79-30%)
20 abnormality of the eye 58 Occasional (29-5%)
21 dysmetria 31 HP:0001310
22 dysdiadochokinesis 31 HP:0002075
23 cerebellar hypoplasia 31 HP:0001321
24 abnormality of metabolism/homeostasis 31 HP:0001939
25 pachygyria 31 HP:0001302
26 gait ataxia 31 HP:0002066
27 broad-based gait 31 HP:0002136
28 cerebellar atrophy 31 HP:0001272
29 psychomotor retardation 31 HP:0025356
30 generalized hypotonia 31 HP:0001290
31 intention tremor 31 HP:0002080
32 poor speech 31 HP:0002465
33 truncal ataxia 31 HP:0002078
34 hypoplasia of the brainstem 31 HP:0002365
35 simplified gyral pattern 31 HP:0009879
36 gaze-evoked nystagmus 31 HP:0000640

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
dysdiadochokinesis
cerebellar hypoplasia
more
Growth Height:
short stature

Skeletal Feet:
pes planus

Head And Neck Eyes:
strabismus
gaze-evoked nystagmus
cataracts, postnatal
saccadic visual pursuit

Clinical features from OMIM®:

224050 (Updated 20-May-2021)

UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:


dysdiadochokinesis; gait ataxia; action tremor; cerebellar ataxia; ataxia, truncal

Drugs & Therapeutics for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Drugs for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Artificial Kidney Initiation in Kidney Injury 2 A Multi-Centre, Randomized, Controlled Trial Completed NCT03396757
2 The Utility of Using the Bispectral Index (BIS) for Detecting Dialysis Disequilibrium Syndrome (DDS) Recruiting NCT03276273

Search NIH Clinical Center for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

Genetic Tests for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Genetic tests related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:

# Genetic test Affiliating Genes
1 Dysequilibrium Syndrome 29
2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 29 VLDLR
3 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 29

Anatomical Context for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

MalaCards organs/tissues related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:

40
Cerebellum, Brain, Cortex, Kidney, Skeletal Muscle, Eye, Pituitary

Publications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Articles related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:

(show top 50) (show all 76)
# Title Authors PMID Year
1
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. 61 25 57 6
22973972 2012
2
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 6 57 25 61
18043714 2008
3
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 6 25 57
18326629 2008
4
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. 57 25 6
16080122 2005
5
Exome sequencing can improve diagnosis and alter patient management. 6 57
22700954 2012
6
Autosomal recessive cerebellar hypoplasia in the Hutterite population. 61 57 25
16174313 2005
7
Pontocerebellar hypoplasia in two siblings with dysmorphic features. 6 57
11913577 2002
8
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. 25 57
20082205 2010
9
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. 25 6
19461874 2009
10
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. 25 57
18364738 2008
11
"Devolution" of bipedality. 25 57
18487453 2008
12
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. 6 61
26437881 2016
13
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 6 61
22892528 2013
14
The dysequilibrium syndrome: a study of the etiology and pathogenesis. 61 57
3978855 1985
15
Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. 61 57
7246619 1981
16
Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome. 57 61
852144 1977
17
The dysequilibrium syndrome. A genetic study. 57 61
4801892 1973
18
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation. 61 25
27251579 2016
19
Challenges of diagnostic exome sequencing in an inbred founder population. 25 61
24498604 2013
20
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. 25 61
23670308 2013
21
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. 6
21885617 2011
22
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6
21937992 2011
23
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 25 61
19332571 2009
24
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. 57
18544652 2008
25
Genes and quadrupedal locomotion in humans. 57
18483196 2008
26
Unertan syndrome: review and report of four new cases. 57
18205078 2008
27
Unertan syndrome: a case series demonstrating human devolution. 57
18041603 2008
28
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. 6
16371500 2006
29
Low prevalence of psychoses among the Hutterites, an isolated religious community. 57
10873912 2000
30
History and relevance of the Hutterite population for genetic studies. 57
3904447 1985
31
Disequilibrium syndrome in Montana Hutterites. 57
4061489 1985
32
Pneumoencephalography in non-progressive ataxic syndromes. A study of 26 children and adolescents. 57
4415109 1974
33
VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern. 25
31261436 2019
34
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
35
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes. 25
27000652 2016
36
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. 25
27108886 2016
37
Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency. 25
23813796 2013
38
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. 25
22532556 2013
39
Reelin and brain development. 25
12778121 2003
40
A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4. 61
33079427 2020
41
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. 61
31693170 2020
42
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome. 61
29371607 2018
43
Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). 61
27390838 2015
44
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome. 61
25173816 2014
45
Critical roles of isoleucine-364 and adjacent residues in a hydrophobic gate control of phospholipid transport by the mammalian P4-ATPase ATP8A2. 61
24706822 2014
46
Neuro-ophthalmologic findings in humans with quadrupedal locomotion. 61
22686558 2012
47
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. 61
21812104 2011
48
Re-evaluation of the dysequilibrium syndrome. 61
20199520 2011
49
[Neurological complications in uremia]. 61
18686653 2008
50
Human balance, the evolution of bipedalism and dysequilibrium syndrome. 61
16530977 2006

Variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:

6 (show top 50) (show all 166)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VLDLR and overlap with 1 gene(s) NG_012741.1:g.(?_5001)_(37693_?)del Deletion Pathogenic 12200 GRCh37: 9:2621793-2654485
GRCh38: 9:2621793-2654485
2 CA8 NM_004056.6(CA8):c.298T>C (p.Ser100Pro) SNV Pathogenic 17604 rs267606695 GRCh37: 8:61178603-61178603
GRCh38: 8:60266044-60266044
3 VLDLR NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) SNV Pathogenic 21381 rs80338905 GRCh37: 9:2645603-2645603
GRCh38: 9:2645603-2645603
4 VLDLR NM_003383.5(VLDLR):c.2339del (p.Ile780fs) Deletion Pathogenic 12202 rs80338906 GRCh37: 9:2651877-2651877
GRCh38: 9:2651877-2651877
5 VLDLR NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) SNV Pathogenic 12201 rs80338907 GRCh37: 9:2643480-2643480
GRCh38: 9:2643480-2643480
6 CA8 NM_004056.6(CA8):c.710G>A (p.Arg237Gln) SNV Pathogenic 29620 rs387906598 GRCh37: 8:61135236-61135236
GRCh38: 8:60222677-60222677
7 ATP8A2 NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) SNV Pathogenic 50946 rs546968533 GRCh37: 13:26128001-26128001
GRCh38: 13:25553863-25553863
8 VLDLR NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe) SNV Pathogenic 64373 rs397514750 GRCh37: 9:2650382-2650382
GRCh38: 9:2650382-2650382
9 WDR81 NM_001163809.1(WDR81):c.3997C>T (p.Arg1333Ter) SNV Pathogenic 224836 rs138358708 GRCh37: 17:1634392-1634392
GRCh38: 17:1731098-1731098
10 VLDLR NM_003383.5(VLDLR):c.83-1G>A SNV Pathogenic 212565 rs770269674 GRCh37: 9:2635452-2635452
GRCh38: 9:2635452-2635452
11 ATP8A2 NM_016529.6(ATP8A2):c.3183+1G>A SNV Pathogenic 834056 GRCh37: 13:26436547-26436547
GRCh38: 13:25862409-25862409
12 ATP8A2 NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) Deletion Pathogenic 802914 rs1593326999 GRCh37: 13:26349073-26349073
GRCh38: 13:25774935-25774935
13 ATP8A2 NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) Deletion Pathogenic 976733 GRCh37: 13:26116089-26116099
GRCh38: 13:25541951-25541961
14 WDR81 NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) SNV Pathogenic 984714 GRCh37: 17:1639342-1639342
GRCh38: 17:1736048-1736048
15 WDR81 NM_001163809.2(WDR81):c.3097del (p.Glu1033fs) Deletion Pathogenic 1030236 GRCh37: 17:1631349-1631349
GRCh38: 17:1728055-1728055
16 ATP8A2 NM_016529.6(ATP8A2):c.77-2A>G SNV Pathogenic 1033826 GRCh37: 13:26043113-26043113
GRCh38: 13:25468975-25468975
17 WDR81 NM_001163809.1(WDR81):c.2567C>T (p.Pro856Leu) SNV Pathogenic 31611 rs587776906 GRCh37: 17:1630820-1630820
GRCh38: 17:1727526-1727526
18 VLDLR NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs) Deletion Pathogenic 55852 rs398122380 GRCh37: 9:2645017-2645023
GRCh38: 9:2645017-2645023
19 ATP8A2 NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) SNV Likely pathogenic 1029608 GRCh37: 13:26163784-26163784
GRCh38: 13:25589646-25589646
20 ATP8A2 NM_016529.6(ATP8A2):c.3469+1G>C SNV Likely pathogenic 1029609 GRCh37: 13:26586761-26586761
GRCh38: 13:26012623-26012623
21 ATP8A2 NM_016529.6(ATP8A2):c.1868-2A>G SNV Likely pathogenic 812083 GRCh37: 13:26153944-26153944
GRCh38: 13:25579806-25579806
22 ATP8A2 NM_016529.6(ATP8A2):c.210del (p.Asp70fs) Deletion Likely pathogenic 930222 GRCh37: 13:26043248-26043248
GRCh38: 13:25469110-25469110
23 ATP8A2 NM_016529.6(ATP8A2):c.1058-2A>G SNV Likely pathogenic 931002 GRCh37: 13:26127929-26127929
GRCh38: 13:25553791-25553791
24 CA8 NM_004056.6(CA8):c.730dup (p.Gln244fs) Duplication Likely pathogenic 931983 GRCh37: 8:61135215-61135216
GRCh38: 8:60222656-60222657
25 ATP8A2 NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter) SNV Likely pathogenic 800507 rs1593576872 GRCh37: 13:26153995-26153995
GRCh38: 13:25579857-25579857
26 ATP8A2 NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) SNV Likely pathogenic 800920 rs1304109530 GRCh37: 13:26151235-26151235
GRCh38: 13:25577097-25577097
27 ATP8A2 NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp) SNV Likely pathogenic 800921 rs1593410369 GRCh37: 13:26402325-26402325
GRCh38: 13:25828187-25828187
28 ATP8A2 NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) Duplication Likely pathogenic 522073 rs1156904586 GRCh37: 13:26151253-26151254
GRCh38: 13:25577115-25577116
29 VLDLR-AS1 , VLDLR NM_003383.5(VLDLR):c.2T>C (p.Met1Thr) SNV Likely pathogenic 212557 rs797046092 GRCh37: 9:2622191-2622191
GRCh38: 9:2622191-2622191
30 CA8 NM_004056.6(CA8):c.100+1G>A SNV Likely pathogenic 560540 rs1563390893 GRCh37: 8:61193606-61193606
GRCh38: 8:60281047-60281047
31 VLDLR NM_003383.5(VLDLR):c.1962+2T>C SNV Likely pathogenic 635065 rs1563764078 GRCh37: 9:2648349-2648349
GRCh38: 9:2648349-2648349
32 CA8 NM_004056.6(CA8):c.475A>T (p.Lys159Ter) SNV Likely pathogenic 522600 rs79267946 GRCh37: 8:61144881-61144881
GRCh38: 8:60232322-60232322
33 ATP8A2 NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) SNV Uncertain significance 522654 rs202017613 GRCh37: 13:26273432-26273432
GRCh38: 13:25699294-25699294
34 ATP8A2 NM_016529.6(ATP8A2):c.2689G>A (p.Ala897Thr) SNV Uncertain significance 431717 rs1171835963 GRCh37: 13:26402265-26402265
GRCh38: 13:25828127-25828127
35 WDR81 NM_001163809.1(WDR81):c.3085G>A (p.Ala1029Thr) SNV Uncertain significance 547902 rs766140596 GRCh37: 17:1631338-1631338
GRCh38: 17:1728044-1728044
36 ATP8A2 NM_016529.6(ATP8A2):c.158C>T (p.Ala53Val) SNV Uncertain significance 547903 rs202073376 GRCh37: 13:26043196-26043196
GRCh38: 13:25469058-25469058
37 VLDLR NM_003383.5(VLDLR):c.692G>A (p.Arg231His) SNV Uncertain significance 366364 rs767529669 GRCh37: 9:2643403-2643403
GRCh38: 9:2643403-2643403
38 VLDLR NM_003383.5(VLDLR):c.692G>A (p.Arg231His) SNV Uncertain significance 366364 rs767529669 GRCh37: 9:2643403-2643403
GRCh38: 9:2643403-2643403
39 ATP8A2 NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) SNV Uncertain significance 548590 rs371560228 GRCh37: 13:26586730-26586730
GRCh38: 13:26012592-26012592
40 VLDLR NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) SNV Uncertain significance 194212 rs35339834 GRCh37: 9:2648286-2648286
GRCh38: 9:2648286-2648286
41 WDR81 NM_001163809.1(WDR81):c.3532G>A (p.Ala1178Thr) SNV Uncertain significance 235691 rs151330612 GRCh37: 17:1631785-1631785
GRCh38: 17:1728491-1728491
42 VLDLR-AS1 , VLDLR NM_003383.5(VLDLR):c.-392C>T SNV Uncertain significance 366344 rs867729388 GRCh37: 9:2621798-2621798
GRCh38: 9:2621798-2621798
43 VLDLR-AS1 , VLDLR NM_003383.5(VLDLR):c.-335C>T SNV Uncertain significance 366345 rs557105742 GRCh37: 9:2621855-2621855
GRCh38: 9:2621855-2621855
44 VLDLR-AS1 , VLDLR NM_003383.5(VLDLR):c.-303C>G SNV Uncertain significance 912497 GRCh37: 9:2621887-2621887
GRCh38: 9:2621887-2621887
45 VLDLR-AS1 , VLDLR NM_003383.5(VLDLR):c.-302T>C SNV Uncertain significance 912498 GRCh37: 9:2621888-2621888
GRCh38: 9:2621888-2621888
46 VLDLR-AS1 , VLDLR NM_003383.5(VLDLR):c.-207G>A SNV Uncertain significance 912499 GRCh37: 9:2621983-2621983
GRCh38: 9:2621983-2621983
47 VLDLR NM_003383.5(VLDLR):c.639C>T (p.Asp213=) SNV Uncertain significance 912550 GRCh37: 9:2643350-2643350
GRCh38: 9:2643350-2643350
48 VLDLR NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn) SNV Uncertain significance 912551 GRCh37: 9:2643351-2643351
GRCh38: 9:2643351-2643351
49 VLDLR NM_003383.5(VLDLR):c.711C>G (p.Thr237=) SNV Uncertain significance 912552 GRCh37: 9:2643422-2643422
GRCh38: 9:2643422-2643422
50 VLDLR NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) SNV Uncertain significance 212561 rs145995735 GRCh37: 9:2643443-2643443
GRCh38: 9:2643443-2643443

Expression for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Search GEO for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1.

Pathways for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Pathways related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1 ATP8A2
2
Show member pathways
12.42 ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1 ATP8A2
3
Show member pathways
11.86 ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1 ATP8A2

GO Terms for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Cellular components related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.38 WDR81 VLDLR TMEM30B TMEM30A MSTO1 ATP9A
2 integral component of membrane GO:0016021 10.24 VLDLR TMEM30CP TMEM30B TMEM30A ATP9A ATP8B4
3 plasma membrane GO:0005886 10.2 VLDLR TMEM30CP TMEM30B TMEM30A ATP9A ATP8B4
4 endoplasmic reticulum GO:0005783 10 TMEM30CP TMEM30B TMEM30A ATP8B3 ATP8B2 ATP8B1
5 endosome GO:0005768 9.91 WDR81 ATP9A ATP8A2 ATP11B ATP11A
6 Golgi apparatus GO:0005794 9.9 WDR81 TMEM30CP TMEM30B TMEM30A ATP9A ATP8B4
7 lysosomal membrane GO:0005765 9.8 WDR81 VLDLR ATP11C ATP11A
8 recycling endosome GO:0055037 9.73 ATP9A ATP11C ATP11B ATP11A
9 specific granule membrane GO:0035579 9.71 TMEM30A ATP8B4 ATP8A1 ATP11A
10 azurophil granule membrane GO:0035577 9.63 TMEM30A ATP8A1 ATP11B
11 phospholipid-translocating ATPase complex GO:1990531 9.35 TMEM30A ATP8B1 ATP8A1 ATP11A ATP10D
12 trans-Golgi network GO:0005802 9.28 ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1 ATP8A1

Biological processes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid translocation GO:0034204 9.96 ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1 ATP8A2
2 phospholipid transport GO:0015914 9.93 TMEM30A ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
3 ion transmembrane transport GO:0034220 9.88 ATP8B2 ATP8B1 ATP8A1 ATP11C ATP11B ATP10D
4 neutrophil degranulation GO:0043312 9.85 TMEM30A ATP8B4 ATP8A1 ATP11B ATP11A
5 lipid transport GO:0006869 9.77 VLDLR TMEM30B TMEM30A ATP8B4 ATP8B3 ATP8B2
6 Golgi organization GO:0007030 9.73 ATP8B4 ATP8B3 ATP8B2 ATP8B1
7 aminophospholipid transport GO:0015917 9.62 TMEM30B TMEM30A ATP8B1 ATP11B
8 positive regulation of phospholipid translocation GO:0061092 9.54 TMEM30A ATP8A2 ATP8A1
9 positive regulation of protein exit from endoplasmic reticulum GO:0070863 9.49 TMEM30B TMEM30A
10 drug transmembrane transport GO:0006855 9.48 TMEM30A ATP8B1
11 phospholipid translocation GO:0045332 9.47 TMEM30CP TMEM30B TMEM30A ATP9A ATP8B4 ATP8B3

Molecular functions related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.15 CA8 ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
2 ATP binding GO:0005524 10 ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1 ATP8A2
3 nucleotide binding GO:0000166 9.93 TUBB2B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
4 phosphatidylethanolamine-translocating ATPase activity GO:0090555 9.5 ATP8A2 ATP11C ATP11A
5 magnesium ion binding GO:0000287 9.36 ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1 ATP8A2
6 aminophospholipid transmembrane transporter activity GO:0015247 9.26 TMEM30B TMEM30A ATP8B1 ATP8A2

Sources for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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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