CAMRQ1
MCID: CRB185
MIFTS: 55

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 56 12 73 29 6
Dysequilibrium Syndrome 56 74 52 58 73 29 6 71
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 56 29 13 6
Camrq1 56 24 73
Des 56 52 73
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 1 56 73
Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 12 15
Cerebellar Disorder, Nonprogressive, with Mental Retardation 52 25
Cerebellar Hypoplasia, Vldlr-Associated 56 25
Vldlr Cerebellar Hypoplasia 12 24
Vldlrch 52 25
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 25
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 25
Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive 56
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome 58
Congenital Cerebellar Ataxia and Mental Retardation Autosomal Recessive 73
Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome 58
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1 24
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 25
Cerebellar Hypoplasia, Vldlr Associated 52
Vldlr-Associated Cerebellar Hypoplasia 25
Cerebellar Hypoplasia Vldlr-Associated 73
Dialysis Disequilibrium Syndrome 71
Dysequilibrium Syndrome-Vldlr 25
Dysequilibrium Syndrome; Des 56
Uner Tan Syndrome 58
Camrq Syndrome 58
Des-Vldlr 25
Vldlr-Ch 25
Chmrq1 25
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:

56
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...

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

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 brain, cerebellum and eye, and related phenotypes are intellectual disability and muscular hypotonia

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

Genetics Home Reference : 25 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). VLDLR VLDLR 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. VLDLR VLDLR

OMIM : 56 This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). (224050)

UniProtKB/Swiss-Prot : 73 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 : 74 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 top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, nonprogressive, with mental retardation 30.6 WDR81 VLDLR
2 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 11.2
3 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 11.2
4 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 11.2
5 infantile hypotonia 10.4
6 ataxia and polyneuropathy, adult-onset 10.3
7 microlissencephaly 10.3 WDR81 TUBB2B
8 poliomyelitis 10.3
9 tubulinopathies 10.3
10 tremor 10.3
11 cerebellar hypoplasia 10.3
12 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
13 barber-say syndrome 10.2 WDR81 ATP8A2
14 sleep apnea 10.2
15 alacrima, achalasia, and mental retardation syndrome 10.2
16 lissencephaly 2 10.2 VLDLR TUBB2B
17 familial intrahepatic cholestasis 10.2 TMEM30A ATP8B1 ATP8A1
18 strabismus 10.1
19 mechanical strabismus 10.1
20 atherosclerosis susceptibility 10.1
21 bladder cancer 10.1
22 endometrial cancer 10.1
23 cardiovascular system disease 10.1
24 uremia 10.1
25 hypoparathyroidism, x-linked 10.1 ATP11C ATP11B ATP11A
26 hair whorl 10.0
27 hypertension, essential 10.0
28 ovarian cancer 10.0
29 paragangliomas 3 10.0
30 tendinopathy 10.0
31 tendinitis 10.0
32 bone sarcoma 10.0
33 pre-eclampsia 10.0
34 pulpitis 10.0
35 sarcoma 10.0
36 gonadal dysgenesis 10.0
37 endometrial adenocarcinoma 10.0
38 pulmonary tuberculosis 10.0
39 turner syndrome 10.0
40 pulmonary fibrosis 10.0
41 spindle cell sarcoma 10.0
42 neuromuscular disease 10.0
43 hypokalemia 10.0
44 adenoid squamous cell carcinoma 10.0
45 kidney disease 10.0
46 lung disease 10.0
47 soft tissue sarcoma 10.0
48 uterine sarcoma 10.0
49 head injury 10.0
50 acute liver failure 10.0

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 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
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 global developmental delay 31 HP:0001263
14 delayed speech and language development 31 HP:0000750
15 seizures 58 Frequent (79-30%)
16 pes planus 31 HP:0001763
17 abnormality of metabolism/homeostasis 31 HP:0001939
18 abnormality of movement 58 Frequent (79-30%)
19 dysarthria 31 HP:0001260
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 pachygyria 31 HP:0001302
25 gait ataxia 31 HP:0002066
26 broad-based gait 31 HP:0002136
27 cerebellar atrophy 31 HP:0001272
28 generalized hypotonia 31 HP:0001290
29 intention tremor 31 HP:0002080
30 poor speech 31 HP:0002465
31 truncal ataxia 31 HP:0002078
32 hypoplasia of the brainstem 31 HP:0002365
33 psychomotor retardation 31 HP:0025356
34 gaze-evoked nystagmus 31 HP:0000640
35 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes planus

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

Growth Height:
short stature

Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysmetria
dysdiadochokinesis
cerebellar hypoplasia
more

Clinical features from OMIM:

224050

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 Utility of Using the Bispectral Index (BIS) for Detecting Dialysis Disequilibrium Syndrome (DDS) Recruiting NCT03276273
2 The Artificial Kidney Initiation in Kidney Injury 2 A Multi-Centre, Randomized, Controlled Trial Active, not recruiting NCT03396757
3 Incidence and Causes of Disc Edema in Patients With Chronic Kidney Disease Withdrawn NCT00769834

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 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 29 VLDLR
2 Dysequilibrium Syndrome 29
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
Brain, Cerebellum, Eye, Cortex, Kidney, Skeletal Muscle, 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. 24 6 56 61
22973972 2012
2
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 24 61 56 6
18043714 2008
3
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 24 56 6
18326629 2008
4
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. 24 56 6
16080122 2005
5
Exome sequencing can improve diagnosis and alter patient management. 56 6
22700954 2012
6
Autosomal recessive cerebellar hypoplasia in the Hutterite population. 61 24 56
16174313 2005
7
Pontocerebellar hypoplasia in two siblings with dysmorphic features. 6 56
11913577 2002
8
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. 24 56
20082205 2010
9
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. 24 6
19461874 2009
10
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. 24 56
18364738 2008
11
"Devolution" of bipedality. 24 56
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. 56 61
3978855 1985
15
Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. 61 56
7246619 1981
16
Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome. 56 61
852144 1977
17
The dysequilibrium syndrome. A genetic study. 56 61
4801892 1973
18
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation. 24 61
27251579 2016
19
Challenges of diagnostic exome sequencing in an inbred founder population. 61 24
24498604 2013
20
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. 61 24
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). 24 61
19332571 2009
24
VLDLR Cerebellar Hypoplasia 6
20301729 2008
25
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. 56
18544652 2008
26
Genes and quadrupedal locomotion in humans. 56
18483196 2008
27
Unertan syndrome: review and report of four new cases. 56
18205078 2008
28
Unertan syndrome: a case series demonstrating human devolution. 56
18041603 2008
29
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. 6
16371500 2006
30
Low prevalence of psychoses among the Hutterites, an isolated religious community. 56
10873912 2000
31
Disequilibrium syndrome in Montana Hutterites. 56
4061489 1985
32
History and relevance of the Hutterite population for genetic studies. 56
3904447 1985
33
Pneumoencephalography in non-progressive ataxic syndromes. A study of 26 children and adolescents. 56
4415109 1974
34
VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern. 24
31261436 2019
35
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
36
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes. 24
27000652 2016
37
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. 24
27108886 2016
38
Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency. 24
23813796 2013
39
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. 24
22532556 2013
40
Reelin and brain development. 24
12778121 2003
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 105) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP8A2 NM_016529.6(ATP8A2):c.3183+1G>ASNV Pathogenic 834056 13:26436547-26436547 13:25862409-25862409
2 VLDLR NG_012741.1:g.(?_5001)_(37693_?)deldeletion Pathogenic 12200 9:2621793-2654485 9:2621793-2654485
3 VLDLR NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter)SNV Pathogenic 12201 rs80338907 9:2643480-2643480 9:2643480-2643480
4 VLDLR NM_003383.5(VLDLR):c.2339del (p.Ile780fs)deletion Pathogenic 12202 rs80338906 9:2651877-2651877 9:2651877-2651877
5 VLDLR NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)SNV Pathogenic 21381 rs80338905 9:2645603-2645603 9:2645603-2645603
6 VLDLR NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs)deletion Pathogenic 55852 rs398122380 9:2645017-2645023 9:2645017-2645023
7 VLDLR NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe)SNV Pathogenic 64373 rs397514750 9:2650382-2650382 9:2650382-2650382
8 VLDLR NM_003383.5(VLDLR):c.83-1G>ASNV Pathogenic 212565 rs770269674 9:2635452-2635452 9:2635452-2635452
9 VLDLR NM_003383.5(VLDLR):c.1962+2T>CSNV Likely pathogenic 635065 rs1563764078 9:2648349-2648349 9:2648349-2648349
10 VLDLR NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)SNV Likely pathogenic 212557 rs797046092 9:2622191-2622191 9:2622191-2622191
11 VLDLR NM_003383.5(VLDLR):c.-111C>TSNV Conflicting interpretations of pathogenicity 366351 rs374367278 9:2622079-2622079 9:2622079-2622079
12 VLDLR NM_003383.5(VLDLR):c.-171G>CSNV Conflicting interpretations of pathogenicity 366347 rs35763266 9:2622019-2622019 9:2622019-2622019
13 VLDLR NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp)SNV Conflicting interpretations of pathogenicity 366359 rs754340855 9:2622260-2622260 9:2622260-2622260
14 VLDLR NM_003383.5(VLDLR):c.582C>T (p.Gly194=)SNV Conflicting interpretations of pathogenicity 366363 rs148012674 9:2643293-2643293 9:2643293-2643293
15 VLDLR NM_003383.5(VLDLR):c.-113C>GSNV Conflicting interpretations of pathogenicity 366350 rs34433332 9:2622077-2622077 9:2622077-2622077
16 VLDLR NM_003383.5(VLDLR):c.1791G>A (p.Ala597=)SNV Conflicting interpretations of pathogenicity 366371 rs115773578 9:2647561-2647561 9:2647561-2647561
17 VLDLR NM_003383.5(VLDLR):c.449-12C>TSNV Conflicting interpretations of pathogenicity 366360 rs73640152 9:2643148-2643148 9:2643148-2643148
18 VLDLR NM_003383.5(VLDLR):c.1809C>T (p.Asn603=)SNV Conflicting interpretations of pathogenicity 378855 rs6147 9:2647579-2647579 9:2647579-2647579
19 VLDLR NM_003383.5(VLDLR):c.2104+5C>TSNV Conflicting interpretations of pathogenicity 388504 rs201953557 9:2648815-2648815 9:2648815-2648815
20 VLDLR NM_003383.5(VLDLR):c.1179C>T (p.Thr393=)SNV Conflicting interpretations of pathogenicity 756495 9:2644846-2644846 9:2644846-2644846
21 VLDLR NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)SNV Conflicting interpretations of pathogenicity 431884 rs140526335 9:2639898-2639898 9:2639898-2639898
22 VLDLR NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln)SNV Conflicting interpretations of pathogenicity 437230 rs137946976 9:2645604-2645604 9:2645604-2645604
23 VLDLR NM_003383.5(VLDLR):c.792C>T (p.Cys264=)SNV Conflicting interpretations of pathogenicity 212564 rs141850403 9:2643503-2643503 9:2643503-2643503
24 VLDLR NM_003383.5(VLDLR):c.2041C>T (p.Leu681=)SNV Conflicting interpretations of pathogenicity 130706 rs79720897 9:2648747-2648747 9:2648747-2648747
25 VLDLR NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)SNV Conflicting interpretations of pathogenicity 130714 rs139671268 9:2643709-2643709 9:2643709-2643709
26 VLDLR NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)SNV Uncertain significance 212553 rs182216426 9:2646381-2646381 9:2646381-2646381
27 VLDLR NM_003383.5(VLDLR):c.1838G>A (p.Arg613His)SNV Uncertain significance 212555 rs35948251 9:2648223-2648223 9:2648223-2648223
28 VLDLR NM_003383.5(VLDLR):c.-335C>TSNV Uncertain significance 366345 rs557105742 9:2621855-2621855 9:2621855-2621855
29 VLDLR NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)SNV Uncertain significance 194212 rs35339834 9:2648286-2648286 9:2648286-2648286
30 VLDLR NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)SNV Uncertain significance 212561 rs145995735 9:2643443-2643443 9:2643443-2643443
31 VLDLR NM_003383.5(VLDLR):c.1374del (p.Glu460fs)deletion Uncertain significance 813944 9:2645634-2645634 9:2645634-2645634
32 VLDLR NM_003383.5(VLDLR):c.449-14C>GSNV Uncertain significance 915241 9:2643146-2643146 9:2643146-2643146
33 VLDLR NM_003383.5(VLDLR):c.2104+6G>ASNV Uncertain significance 912599 9:2648816-2648816 9:2648816-2648816
34 VLDLR NM_003383.5(VLDLR):c.2416+13C>TSNV Uncertain significance 913702 9:2651967-2651967 9:2651967-2651967
35 VLDLR NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)SNV Uncertain significance 130704 rs148487944 9:2646492-2646492 9:2646492-2646492
36 VLDLR NM_003383.5(VLDLR):c.-303C>GSNV Uncertain significance 912497 9:2621887-2621887 9:2621887-2621887
37 VLDLR NM_003383.5(VLDLR):c.-302T>CSNV Uncertain significance 912498 9:2621888-2621888 9:2621888-2621888
38 VLDLR NM_003383.5(VLDLR):c.-207G>ASNV Uncertain significance 912499 9:2621983-2621983 9:2621983-2621983
39 VLDLR NM_003383.5(VLDLR):c.-154C>GSNV Uncertain significance 913612 9:2622036-2622036 9:2622036-2622036
40 VLDLR NM_003383.5(VLDLR):c.-99C>GSNV Uncertain significance 913613 9:2622091-2622091 9:2622091-2622091
41 VLDLR NM_003383.5(VLDLR):c.-48G>CSNV Uncertain significance 914011 9:2622142-2622142 9:2622142-2622142
42 VLDLR NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn)SNV Uncertain significance 915242 9:2643180-2643180 9:2643180-2643180
43 VLDLR NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn)SNV Uncertain significance 915243 9:2643252-2643252 9:2643252-2643252
44 VLDLR NM_003383.5(VLDLR):c.570G>C (p.Pro190=)SNV Uncertain significance 915244 9:2643281-2643281 9:2643281-2643281
45 VLDLR NM_003383.5(VLDLR):c.639C>T (p.Asp213=)SNV Uncertain significance 912550 9:2643350-2643350 9:2643350-2643350
46 VLDLR NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn)SNV Uncertain significance 912551 9:2643351-2643351 9:2643351-2643351
47 VLDLR NM_003383.5(VLDLR):c.711C>G (p.Thr237=)SNV Uncertain significance 912552 9:2643422-2643422 9:2643422-2643422
48 VLDLR NM_003383.5(VLDLR):c.828A>C (p.Arg276=)SNV Uncertain significance 912553 9:2643635-2643635 9:2643635-2643635
49 VLDLR NM_003383.5(VLDLR):c.921C>T (p.Ser307=)SNV Uncertain significance 913652 9:2643728-2643728 9:2643728-2643728
50 VLDLR NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys)SNV Uncertain significance 913653 9:2643934-2643934 9:2643934-2643934

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
13.06 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
2
Show member pathways
12.46 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
3
Show member pathways
11.9 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1

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 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.33 WDR81 VLDLR TMEM30CP TMEM30B TMEM30A ATP9B
2 integral component of membrane GO:0016021 10.22 VLDLR TMEM30CP TMEM30B TMEM30A ATP9B ATP9A
3 plasma membrane GO:0005886 10.16 VLDLR TMEM30CP TMEM30B TMEM30A ATP9B ATP9A
4 endosome GO:0005768 9.93 WDR81 ATP9B ATP9A ATP8A2 ATP11B ATP11A
5 endoplasmic reticulum GO:0005783 9.9 TMEM30CP TMEM30B TMEM30A ATP8B3 ATP8B2 ATP8B1
6 lysosomal membrane GO:0005765 9.8 WDR81 VLDLR ATP11C ATP11A
7 Golgi apparatus GO:0005794 9.77 WDR81 TMEM30CP TMEM30B TMEM30A ATP9B ATP9A
8 recycling endosome GO:0055037 9.73 ATP9A ATP11C ATP11B ATP11A
9 specific granule membrane GO:0035579 9.67 TMEM30A ATP8B4 ATP8A1 ATP11A
10 azurophil granule membrane GO:0035577 9.65 TMEM30A ATP8A1 ATP11B
11 trans-Golgi network GO:0005802 9.36 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid transport GO:0015914 9.97 TMEM30A ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2
2 neutrophil degranulation GO:0043312 9.85 TMEM30A ATP8B4 ATP8A1 ATP11B ATP11A
3 ion transmembrane transport GO:0034220 9.8 ATP8B2 ATP8B1 ATP8A1 ATP11C ATP11B ATP10D
4 lipid transport GO:0006869 9.77 VLDLR TMEM30B TMEM30A ATP8B4 ATP8B3 ATP8B2
5 Golgi organization GO:0007030 9.67 ATP8B4 ATP8B3 ATP8B2 ATP8B1
6 aminophospholipid transport GO:0015917 9.56 TMEM30B TMEM30A ATP8B1 ATP11B
7 phospholipid translocation GO:0045332 9.5 TMEM30CP TMEM30B TMEM30A ATP9B ATP9A ATP8B4
8 positive regulation of protein exit from endoplasmic reticulum GO:0070863 9.48 TMEM30B TMEM30A
9 drug transmembrane transport GO:0006855 9.43 TMEM30A ATP8B1
10 positive regulation of phospholipid translocation GO:0061092 9.4 ATP8A2 ATP8A1

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 10.13 CA8 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2
2 ATP binding GO:0005524 10.03 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
3 nucleotide binding GO:0000166 9.97 TUBB2B ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2
4 magnesium ion binding GO:0000287 9.4 ATP9B ATP9A ATP8B4 ATP8B3 ATP8B2 ATP8B1
5 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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