CAMRQ1
MCID: CRB185
MIFTS: 53

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

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

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 11
Dysequilibrium Syndrome 57 19 58 75 73 28 5 71
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 1 73 28 5
Camrq1 57 24 73
Des 57 19 73
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 57 12
Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 11 14
Cerebellar Hypoplasia, Vldlr-Associated 57 42
Vldlr-Associated Cerebellar Hypoplasia 42 75
Vldlr Cerebellar Hypoplasia 11 24
Uner Tan Syndrome 11 58
Vldlrch 19 42
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 42
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 1 57
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 42
Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive 57
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome 58
Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome 58
Cerebellar Disorder, Nonprogressive, with Intellectual Disability 19
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1 24
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 42
Cerebellar Disorder, Nonprogressive, with Mental Retardation 42
Cerebellar Hypoplasia, Vldlr Associated 19
Cerebellar Hypoplasia Vldlr-Associated 73
Dialysis Disequilibrium Syndrome 71
Dysequilibrium Syndrome-Vldlr 42
Camrq Syndrome 58
Des-Vldlr 42
Vldlr-Ch 42
Chmrq1 42
Camrq 11
Uts 58

Characteristics:


Inheritance:

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1: Autosomal recessive 57
Dysequilibrium Syndrome: Autosomal recessive 58

Prevelance:

Dysequilibrium Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Dysequilibrium Syndrome: Neonatal 58

Age Of Death:

Dysequilibrium Syndrome: normal life expectancy 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
nonprogressive disorder
congenital onset
some patients acquire late ambulation


Classifications:

Orphanet: 58  
Rare neurological diseases


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

MedlinePlus Genetics: 42 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.

MalaCards based summary: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1, also known as dysequilibrium syndrome, is related to cerebellar dysfunction with variable cognitive and behavioral abnormalities and cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, and has symptoms including cerebellar ataxia, action tremor and dysdiadochokinesis. 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 inorganic cations/anions and amino acids/oligopeptides and Cardiac conduction. Affiliated tissues include cerebellum, brain and skeletal muscle, and related phenotypes are intellectual disability and hyperreflexia

UniProtKB/Swiss-Prot: 73 An autosomal recessive, congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, intellectual disability, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures.

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 24-Oct-2022)

GARD: 19 Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

Orphanet: 58 Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

Disease Ontology: 11 An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.

Wikipedia: 75 VLDLR-associated cerebellar hypoplasia (VLDLRCH) is a rare autosomal recessive condition caused by a... 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 61)
# Related Disease Score Top Affiliating Genes
1 cerebellar dysfunction with variable cognitive and behavioral abnormalities 30.5 WDR81 VLDLR
2 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 11.0
3 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 11.0
4 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 11.0
5 aceruloplasminemia 10.4
6 x-linked nephrolithiasis type i 10.3 TMEM30A ATP8A2
7 barber-say syndrome 10.3 CA8 ATP8A2
8 microlissencephaly 10.3 WDR81 TUBB2B
9 autosomal recessive congenital cerebellar ataxia 10.3 WDR81 CA8 ATP8A2
10 tukel syndrome 10.3 TUBB2B CA8 ATP8A2
11 cholestasis, benign recurrent intrahepatic, 2 10.3 TMEM30A ATP8B1
12 cenani-lenz syndactyly syndrome 10.2 CA8 ATP8A2
13 cerebellar hypoplasia 10.2
14 pontocerebellar hypoplasia 10.2 WDR81 VLDLR TUBB2B
15 cerebellar atrophy, developmental delay, and seizures 10.2
16 disease by infectious agent 10.2
17 tubulinopathy 10.2
18 poliomyelitis 10.2
19 viral infectious disease 10.2
20 tremor 10.2
21 lissencephaly 2 10.2 VLDLR TUBB2B
22 hypoparathyroidism, x-linked 10.2 ATP11C ATP11B ATP11A
23 gillespie syndrome 10.1 WDR81 CA8
24 bilirubin metabolic disorder 10.1 TMEM30A ATP8B1 ATP11C
25 strabismus 10.1
26 hypolipoproteinemia 10.1
27 hypotonia 10.1
28 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.1
29 bone sarcoma 10.1
30 sarcoma 10.1
31 turner syndrome 10.1
32 uterine corpus sarcoma 10.1
33 soft tissue sarcoma 10.1
34 uterine sarcoma 10.1
35 lissencephaly, x-linked, 2 10.0 VLDLR TUBB2B
36 otitis media 9.9
37 congenital disorder of glycosylation, type ia 9.9
38 dyssynergia cerebellaris myoclonica of hunt 9.9
39 papillon-lefevre syndrome 9.9
40 succinic semialdehyde dehydrogenase deficiency 9.9
41 nasopharyngeal carcinoma 9.9
42 congenital disorder of glycosylation, type in 9.9
43 alacrima, achalasia, and mental retardation syndrome 9.9
44 autosomal recessive cerebellar ataxia 9.9
45 sensorineural hearing loss 9.9
46 myoclonic cerebellar dyssynergia 9.9
47 cerebral palsy 9.9
48 acute kidney failure 9.9
49 central pontine myelinolysis 9.9
50 viral encephalitis 9.9

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

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


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

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

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

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 28
2 Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 1 28 VLDLR

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

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

MalaCards : Cerebellum, Brain, Skeletal Muscle, Eye, Pituitary, Kidney
ODiseA: Brain, Brain-Cerebellum

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

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

(show top 50) (show all 95)
# Title Authors PMID Year
1
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. 62 24 57 5
22973972 2012
2
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 62 24 57 5
18043714 2008
3
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. 62 24 57 5
16080122 2005
4
Exome sequencing can improve diagnosis and alter patient management. 57 5
22700954 2012
5
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. 62 24 57
20082205 2010
6
Autosomal recessive cerebellar hypoplasia in the Hutterite population. 62 24 57
16174313 2005
7
Pontocerebellar hypoplasia in two siblings with dysmorphic features. 57 5
11913577 2002
8
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. 24 57
18364738 2008
9
"Devolution" of bipedality. 24 57
18487453 2008
10
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. 24 57
18326629 2008
11
The dysequilibrium syndrome: a study of the etiology and pathogenesis. 62 57
3978855 1985
12
Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. 62 57
7246619 1981
13
Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome. 62 57
852144 1977
14
The dysequilibrium syndrome. A genetic study. 62 57
4801892 1973
15
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation. 62 24
27251579 2016
16
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. 62 24
27108886 2016
17
Challenges of diagnostic exome sequencing in an inbred founder population. 62 24
24498604 2013
18
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. 62 24
23670308 2013
19
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 62 24
19332571 2009
20
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. 57
18544652 2008
21
Genes and quadrupedal locomotion in humans. 57
18483196 2008
22
Unertan syndrome: review and report of four new cases. 57
18205078 2008
23
Unertan syndrome: a case series demonstrating human devolution. 57
18041603 2008
24
Low prevalence of psychoses among the Hutterites, an isolated religious community. 57
10873912 2000
25
History and relevance of the Hutterite population for genetic studies. 57
3904447 1985
26
Disequilibrium syndrome in Montana Hutterites. 57
4061489 1985
27
Pneumoencephalography in non-progressive ataxic syndromes. A study of 26 children and adolescents. 57
4415109 1974
28
The low-weight groups and haemodialysis. 57
5018574 1972
29
VLDLR-associated Pontocerebellar Hypoplasia with Nonprogressive Congenital Ataxia and a Diagnostic Neuroimaging Pattern. 24
31261436 2019
30
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
31
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes. 24
27000652 2016
32
Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency. 24
23813796 2013
33
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients. 24
22532556 2013
34
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. 24
19461874 2009
35
Reelin and brain development. 24
12778121 2003
36
Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation. 62
34673285 2021
37
Broadening the Clinical Spectrum of Very Low Density Lipoprotein Receptor Associated Dysequilibrium Syndrome. 62
33981800 2021
38
A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4. 62
33079427 2020
39
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. 62
31693170 2020
40
Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic. 62
31371510 2019
41
Asparagine 905 of the mammalian phospholipid flippase ATP8A2 is essential for lipid substrate-induced activation of ATP8A2 dephosphorylation. 62
30760526 2019
42
Use it or lose it? Effects of age, experience, and disuse on crawling. 62
30447002 2019
43
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome. 62
29371607 2018
44
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. 62
29531481 2018
45
Sex differences in quadrupedal walking gaits of Uner Tan syndrome cases, healthy humans and nonhuman primates. 62
28058999 2017
46
Two Indian Families with Quadrupedal Locomotion Resembling Uner Tan Syndrome: A Video Document. 62
30713948 2017
47
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. 62
28013290 2017
48
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. 62
26437881 2016
49
Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). 62
27390838 2015
50
Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase. 62
25595798 2015

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

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

5 (show top 50) (show all 120)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP8A2 NM_016529.6(ATP8A2):c.3183+1G>A SNV Pathogenic
834056 rs1952385477 GRCh37: 13:26436547-26436547
GRCh38: 13:25862409-25862409
2 VLDLR and overlap with 1 gene(s) NG_012741.1:g.(?_5001)_(37693_?)del DEL Pathogenic
12200 GRCh37: 9:2621793-2654485
GRCh38: 9:2621793-2654485
3 VLDLR NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe) SNV Pathogenic
64373 rs397514750 GRCh37: 9:2650382-2650382
GRCh38: 9:2650382-2650382
4 VLDLR NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs) DEL Pathogenic
55852 rs398122380 GRCh37: 9:2645017-2645023
GRCh38: 9:2645017-2645023
5 VLDLR NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) SNV Pathogenic
21381 rs80338905 GRCh37: 9:2645603-2645603
GRCh38: 9:2645603-2645603
6 VLDLR NM_003383.5(VLDLR):c.83-1G>A SNV Pathogenic
212565 rs770269674 GRCh37: 9:2635452-2635452
GRCh38: 9:2635452-2635452
7 VLDLR NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter) SNV Likely Pathogenic
1705671 GRCh37: 9:2641427-2641427
GRCh38: 9:2641427-2641427
8 VLDLR NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr) SNV Likely Pathogenic
1705926 GRCh37: 9:2650409-2650409
GRCh38: 9:2650409-2650409
9 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
10 VLDLR NM_003383.5(VLDLR):c.1962+1G>A SNV Likely Pathogenic
1699105 GRCh37: 9:2648348-2648348
GRCh38: 9:2648348-2648348
11 VLDLR NM_003383.5(VLDLR):c.1962+2T>C SNV Likely Pathogenic
635065 rs1563764078 GRCh37: 9:2648349-2648349
GRCh38: 9:2648349-2648349
12 VLDLR NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter) SNV Likely Pathogenic
1325339 GRCh37: 9:2652828-2652828
GRCh38: 9:2652828-2652828
13 VLDLR NM_003383.5(VLDLR):c.262dup (p.Arg88fs) DUP Likely Pathogenic
1333255 GRCh37: 9:2639916-2639917
GRCh38: 9:2639916-2639917
14 VLDLR NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter) SNV Likely Pathogenic
1679407 GRCh37: 9:2646515-2646515
GRCh38: 9:2646515-2646515
15 VLDLR NM_003383.5(VLDLR):c.692G>A (p.Arg231His) SNV Uncertain Significance
Uncertain Significance
366364 rs767529669 GRCh37: 9:2643403-2643403
GRCh38: 9:2643403-2643403
16 VLDLR NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) SNV Uncertain Significance
194212 rs35339834 GRCh37: 9:2648286-2648286
GRCh38: 9:2648286-2648286
17 VLDLR NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) SNV Uncertain Significance
366374 rs116082439 GRCh37: 9:2652909-2652909
GRCh38: 9:2652909-2652909
18 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-48G>C SNV Uncertain Significance
914011 rs1054805961 GRCh37: 9:2622142-2622142
GRCh38: 9:2622142-2622142
19 VLDLR NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr) SNV Uncertain Significance
914055 rs369197633 GRCh37: 9:2646395-2646395
GRCh38: 9:2646395-2646395
20 VLDLR NM_003383.5(VLDLR):c.1703+10C>G SNV Uncertain Significance
366369 rs372047946 GRCh37: 9:2646562-2646562
GRCh38: 9:2646562-2646562
21 VLDLR NM_003383.5(VLDLR):c.*21C>T SNV Uncertain Significance
914095 rs776834603 GRCh37: 9:2653889-2653889
GRCh38: 9:2653889-2653889
22 VLDLR NM_003383.5(VLDLR):c.*45C>T SNV Uncertain Significance
914096 rs920949909 GRCh37: 9:2653913-2653913
GRCh38: 9:2653913-2653913
23 VLDLR NM_003383.5(VLDLR):c.*46C>G SNV Uncertain Significance
914097 rs35412127 GRCh37: 9:2653914-2653914
GRCh38: 9:2653914-2653914
24 VLDLR NM_003383.5(VLDLR):c.*48C>T SNV Uncertain Significance
366376 rs368949453 GRCh37: 9:2653916-2653916
GRCh38: 9:2653916-2653916
25 VLDLR NM_003383.5(VLDLR):c.*51C>T SNV Uncertain Significance
914098 rs752035004 GRCh37: 9:2653919-2653919
GRCh38: 9:2653919-2653919
26 VLDLR NM_003383.5(VLDLR):c.*63C>T SNV Uncertain Significance
366377 rs17848373 GRCh37: 9:2653931-2653931
GRCh38: 9:2653931-2653931
27 VLDLR NM_003383.5(VLDLR):c.*83C>T SNV Uncertain Significance
366378 rs755339168 GRCh37: 9:2653951-2653951
GRCh38: 9:2653951-2653951
28 VLDLR NM_003383.5(VLDLR):c.*98G>A SNV Uncertain Significance
914099 rs543466401 GRCh37: 9:2653966-2653966
GRCh38: 9:2653966-2653966
29 VLDLR NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) SNV Uncertain Significance
366370 rs372963310 GRCh37: 9:2647525-2647525
GRCh38: 9:2647525-2647525
30 VLDLR NM_003383.5(VLDLR):c.1971C>T (p.Val657=) SNV Uncertain Significance
914565 rs1039272492 GRCh37: 9:2648677-2648677
GRCh38: 9:2648677-2648677
31 VLDLR NM_003383.5(VLDLR):c.*192C>T SNV Uncertain Significance
914605 rs763576733 GRCh37: 9:2654060-2654060
GRCh38: 9:2654060-2654060
32 VLDLR NM_003383.5(VLDLR):c.*214C>T SNV Uncertain Significance
914606 rs189180202 GRCh37: 9:2654082-2654082
GRCh38: 9:2654082-2654082
33 VLDLR NM_003383.5(VLDLR):c.*267A>G SNV Uncertain Significance
914607 rs1036108012 GRCh37: 9:2654135-2654135
GRCh38: 9:2654135-2654135
34 VLDLR NM_003383.5(VLDLR):c.*281G>C SNV Uncertain Significance
914608 rs753515879 GRCh37: 9:2654149-2654149
GRCh38: 9:2654149-2654149
35 VLDLR NM_003383.5(VLDLR):c.*351C>G SNV Uncertain Significance
914609 rs1818497609 GRCh37: 9:2654219-2654219
GRCh38: 9:2654219-2654219
36 VLDLR NM_003383.5(VLDLR):c.*460G>A SNV Uncertain Significance
366380 rs550310153 GRCh37: 9:2654328-2654328
GRCh38: 9:2654328-2654328
37 VLDLR NM_003383.5(VLDLR):c.*517G>C SNV Uncertain Significance
366382 rs886063813 GRCh37: 9:2654385-2654385
GRCh38: 9:2654385-2654385
38 VLDLR NM_003383.5(VLDLR):c.449-14C>G SNV Uncertain Significance
915241 rs370176704 GRCh37: 9:2643146-2643146
GRCh38: 9:2643146-2643146
39 VLDLR NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn) SNV Uncertain Significance
915242 rs768045623 GRCh37: 9:2643180-2643180
GRCh38: 9:2643180-2643180
40 VLDLR NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) SNV Uncertain Significance
366361 rs777739092 GRCh37: 9:2643216-2643216
GRCh38: 9:2643216-2643216
41 VLDLR NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn) SNV Uncertain Significance
915243 rs144469558 GRCh37: 9:2643252-2643252
GRCh38: 9:2643252-2643252
42 VLDLR NM_003383.5(VLDLR):c.570G>C (p.Pro190=) SNV Uncertain Significance
915244 rs116556362 GRCh37: 9:2643281-2643281
GRCh38: 9:2643281-2643281
43 VLDLR NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe) SNV Uncertain Significance
1032125 rs1818184738 GRCh37: 9:2648795-2648795
GRCh38: 9:2648795-2648795
44 VLDLR NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala) SNV Uncertain Significance
1032126 rs753848585 GRCh37: 9:2639955-2639955
GRCh38: 9:2639955-2639955
45 VLDLR NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr) SNV Uncertain Significance
1032127 rs778029251 GRCh37: 9:2643415-2643415
GRCh38: 9:2643415-2643415
46 VLDLR NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro) SNV Uncertain Significance
1032128 rs1817930978 GRCh37: 9:2643726-2643726
GRCh38: 9:2643726-2643726
47 VLDLR NM_003383.5(VLDLR):c.1374del (p.Glu460fs) DEL Uncertain Significance
813944 rs1586653366 GRCh37: 9:2645634-2645634
GRCh38: 9:2645634-2645634
48 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-154C>G SNV Uncertain Significance
913612 rs985479340 GRCh37: 9:2622036-2622036
GRCh38: 9:2622036-2622036
49 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-122T>C SNV Uncertain Significance
366348 rs886063802 GRCh37: 9:2622068-2622068
GRCh38: 9:2622068-2622068
50 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-121C>T SNV Uncertain Significance
366349 rs886063803 GRCh37: 9:2622069-2622069
GRCh38: 9:2622069-2622069

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
13.07 VLDLR ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2
2
Show member pathways
12.43 ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1
3
Show member pathways
12.21 ATP8B3 ATP8B1 ATP11C ATP11A ATP10A
4
Show member pathways
11.83 ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1

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 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.65 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
2 membrane GO:0016021 10.65 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
3 endoplasmic reticulum GO:0005783 10.32 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
4 Golgi apparatus GO:0005794 10.2 ATP11A ATP11B ATP8A1 ATP8A2 ATP8B1 ATP9A
5 recycling endosome GO:0055037 10.06 ATP9A ATP11C ATP11B ATP11A
6 recycling endosome membrane GO:0055038 10.01 EHD1 ATP9A ATP11C ATP11B
7 endosome GO:0005768 10 WDR91 WDR81 EHD1 ATP9B ATP9A ATP8A2
8 early endosome membrane GO:0031901 10 ATP11B ATP11C ATP9A EHD1 TMEM30A WDR81
9 specific granule membrane GO:0035579 9.99 TMEM30A ATP8A1 ATP11A
10 azurophil granule membrane GO:0035577 9.97 TMEM30A ATP8A1 ATP11B
11 trans-Golgi network GO:0005802 9.86 ATP11A ATP11B ATP11C ATP8A1 ATP8B1 ATP8B3
12 extrinsic component of endosome membrane GO:0031313 9.78 WDR91 WDR81
13 phospholipid-translocating ATPase complex GO:1990531 9.62 TMEM30A ATP8B3 ATP8B1 ATP8A2 ATP8A1 ATP11C

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 phospholipid translocation GO:0045332 10.25 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
2 ion transmembrane transport GO:0034220 10.21 ATP10A ATP10D ATP11B ATP11C ATP8A1 ATP8B1
3 aminophospholipid translocation GO:0140331 10.03 ATP11A ATP11C ATP8A1 ATP8A2 ATP8B1 TMEM30A
4 endocytosis GO:0006897 10.02 VLDLR EHD1 ATP9B ATP9A
5 positive regulation of phospholipid translocation GO:0061092 9.85 TMEM30A ATP8A2 ATP8A1
6 regulation of phosphatidylinositol 3-kinase activity GO:0043551 9.8 WDR91 WDR81
7 aminophospholipid transport GO:0015917 9.8 TMEM30A ATP8B1 ATP11B
8 xenobiotic transmembrane transport GO:0006855 9.76 TMEM30A ATP8B1
9 phospholipid transport GO:0015914 9.73 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
10 lipid translocation GO:0034204 9.72 ATP9A ATP8B1 ATP8A2 ATP8A1 ATP11B
11 lipid transport GO:0006869 9.4 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.54 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
2 ATP hydrolysis activity GO:0016887 10.36 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
3 metal ion binding GO:0046872 10.32 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
4 magnesium ion binding GO:0000287 10.2 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
5 nucleotide binding GO:0000166 10.18 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
6 phosphatidylethanolamine flippase activity GO:0090555 10.01 ATP8A2 ATP11C ATP11B ATP11A
7 ATPase-coupled intramembrane lipid transporter activity GO:0140326 10 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
8 phosphatidylserine flippase activity GO:0140346 9.96 ATP8B1 ATP8A2 ATP8A1 ATP11C ATP11A
9 phosphatidylcholine floppase activity GO:0090554 9.84 ATP8B1 ATP10A
10 phosphatidylcholine flippase activity GO:0140345 9.83 ATP8B1 ATP10A
11 phosphatidylinositol 3-kinase regulator activity GO:0035014 9.81 WDR91 WDR81
12 glycosylceramide flippase activity GO:0140351 9.8 ATP10D ATP10A
13 aminophospholipid flippase activity GO:0015247 9.73 TMEM30A ATP8B1 ATP8A2
14 phosphatidylserine floppase activity GO:0090556 9.47 ATP11A ATP11B ATP11C ATP8A1 ATP8A2 ATP8B1

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....