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CAMRQ1
MCID: CRB185
MIFTS: 52

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

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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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 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
Vldlr-Associated Cerebellar Hypoplasia 42
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

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
nonprogressive disorder
congenital onset
some patients acquire late ambulation


HPO:

30
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1:
Onset and clinical course nonprogressive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases


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

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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 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 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 08-Dec-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.

GeneReviews: NBK1874
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Related Diseases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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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:

(showing 59, show less)
# Related Disease Score Top Affiliating Genes
1 cerebellar dysfunction with variable cognitive and behavioral abnormalities 30.5 WDR81 VLDLR CA8
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 cerebellar atrophy, developmental delay, and seizures 10.2
15 tubulinopathy 10.2
16 poliomyelitis 10.2
17 viral infectious disease 10.2
18 tremor 10.2
19 pontocerebellar hypoplasia 10.2 WDR81 VLDLR TUBB2B
20 lissencephaly 2 10.2 VLDLR TUBB2B
21 hypoparathyroidism, x-linked 10.2 ATP11C ATP11B ATP11A
22 gillespie syndrome 10.1 WDR81 CA8
23 bilirubin metabolic disorder 10.1 TMEM30A ATP8B1 ATP11C
24 strabismus 10.1
25 hypolipoproteinemia 10.1
26 hypotonia 10.1
27 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.1
28 bone sarcoma 10.1
29 sarcoma 10.1
30 turner syndrome 10.1
31 uterine corpus sarcoma 10.1
32 soft tissue sarcoma 10.1
33 uterine sarcoma 10.1
34 lissencephaly, x-linked, 2 10.0 VLDLR TUBB2B
35 otitis media 9.9
36 congenital disorder of glycosylation, type ia 9.9
37 dyssynergia cerebellaris myoclonica of hunt 9.9
38 papillon-lefevre syndrome 9.9
39 succinic semialdehyde dehydrogenase deficiency 9.9
40 nasopharyngeal carcinoma 9.9
41 congenital disorder of glycosylation, type in 9.9
42 autosomal recessive cerebellar ataxia 9.9
43 sensorineural hearing loss 9.9
44 myoclonic cerebellar dyssynergia 9.9
45 cerebral palsy 9.9
46 acute kidney failure 9.9
47 central pontine myelinolysis 9.9
48 viral encephalitis 9.9
49 end stage renal disease 9.9
50 myoclonus 9.9
51 behcet syndrome 9.9
52 aortic valve disease 1 9.9
53 masa syndrome 9.9
54 aortic valve disease 2 9.9
55 aortic valve disease 3 9.9
56 glucose intolerance 9.9
57 vasculitis 9.9
58 progressive familial intrahepatic cholestasis 9.8 TMEM30A ATP8B3 ATP8B1 ATP8A2 ATP8A1 ATP11C
59 cholestasis, progressive familial intrahepatic, 1 9.7 TMEM30CP TMEM30A ATP9A ATP8B1 ATP8A2 ATP8A1

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

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

58 30 (showing 33, show less)
# 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 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001252
6 seizure 58 30 Occasional (7.5%) Frequent (79-30%)
 HP:0001250
7 short stature 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004322
8 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003202
9 strabismus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000486
10 cerebral palsy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100021
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 dysarthria 30 HP:0001260
14 global developmental delay 30 HP:0001263
15 delayed speech and language development 30 HP:0000750
16 pes planus 30 HP:0001763
17 abnormality of movement 58 Frequent (79-30%)
18 abnormality of the eye 58 Occasional (29-5%)
19 dysmetria 30 HP:0001310
20 dysdiadochokinesis 30 HP:0002075
21 cerebellar hypoplasia 30 HP:0001321
22 abnormality of metabolism/homeostasis 30 HP:0001939
23 pachygyria 30 HP:0001302
24 gait ataxia 30 HP:0002066
25 broad-based gait 30 HP:0002136
26 cerebellar atrophy 30 HP:0001272
27 generalized hypotonia 30 HP:0001290
28 intention tremor 30 HP:0002080
29 poor speech 30 HP:0002465
30 truncal ataxia 30 HP:0002078
31 hypoplasia of the brainstem 30 HP:0002365
32 simplified gyral pattern 30 HP:0009879
33 gaze-evoked nystagmus 30 HP:0000640

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
hypotonia
dysmetria
dysdiadochokinesis
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 08-Dec-2022)

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


dysdiadochokinesis; gait ataxia; action tremor; cerebellar ataxia; ataxia, truncal
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Drugs & Therapeutics for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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Interventional clinical trials:

(showing 1, show less)
# 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

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

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

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

MalaCards : Cerebellum, Brain, Skeletal Muscle, Eye, Pituitary, Kidney
ODiseA: Brain, Brain-Cerebellum
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Publications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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

(showing 95, show less)
# 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
Disequilibrium syndrome in Montana Hutterites. 57
4061489 1985
26
History and relevance of the Hutterite population for genetic studies. 57
3904447 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
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. 62
29531481 2018
44
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome. 62
29371607 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
51
Siblings in Kars, Turkey, with Uner Tan syndrome (quadrupedal locomotion, severe mental retardation, and no speech): a novel theory for the evolution of human bipedalism. 62
25082551 2015
52
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome. 62
25173816 2014
53
Critical roles of isoleucine-364 and adjacent residues in a hydrophobic gate control of phospholipid transport by the mammalian P4-ATPase ATP8A2. 62
24706822 2014
54
Human quadrupeds, primate quadrupedalism, and Uner Tan Syndrome. 62
25029457 2014
55
Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism. 62
24795558 2014
56
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 62
22892528 2013
57
Neuro-ophthalmologic findings in humans with quadrupedal locomotion. 62
22686558 2012
58
Central pattern generator for locomotion: anatomical, physiological, and pathophysiological considerations. 62
23403923 2012
59
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII. 62
21812104 2011
60
An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech. 62
21953512 2011
61
Re-evaluation of the dysequilibrium syndrome. 62
20199520 2011
62
Uner tan syndrome: history, clinical evaluations, genetics, and the dynamics of human quadrupedalism. 62
21258577 2010
63
A new case of Uner Tan syndrome--with late childhood quadrupedalism. 62
20175206 2010
64
In restless legs syndrome, the neural substrates of the sensorimotor symptoms are also normally involved in upright standing posture and biped walking. 62
19394150 2009
65
VLDLR Cerebellar Hypoplasia 62
20301729 2008
66
[Neurological complications in uremia]. 62
18686653 2008
67
A wrist-walker exhibiting no "Uner Tan Syndrome": a theory for possible mechanisms of human devolution toward the atavistic walking patterns. 62
17365105 2007
68
Evidence for "Uner Tan Syndrome" as a human model for reverse evolution. 62
17145687 2006
69
Human balance, the evolution of bipedalism and dysequilibrium syndrome. 62
16530977 2006
70
Acute interhemispheric subdural hematoma due to hemodialysis: case report. 62
16256832 2005
71
Neurological complications in renal failure: a review. 62
15567546 2004
72
Osmotic demyelination syndrome in end-stage renal disease after recent hemodialysis: MRI of the brain. 62
14975990 2004
73
Opsoclonus-myoclonus-dysequilibrium syndrome: cytological and immunological dynamics in the serial cerebrospinal fluid in two patients. 62
14673573 2003
74
[Long-term good results of surgical treatment for spontaneous epi- and subdural hematoma in a female patient on maintenance hemodialysis]. 62
11398605 2000
75
[Dialysis dysequilibrium syndrome(DDS)]. 62
11031917 2000
76
Wernicke's encephalopathy associated with hemodialysis: report of two cases and review of the literature. 62
10467908 1999
77
Neurology and the kidney. 62
9854955 1998
78
Osmotic demyelination syndrome with a dysequilibrium syndrome: reversible MRI findings. 62
9592792 1998
79
A simple mathematical model applied to selection of the sodium profile during profiled haemodialysis. 62
9509454 1998
80
[A case of superficial siderosis of the central nervous system with bilateral vestibular dysfunction]. 62
9368892 1997
81
[Pituitary crisis and acute renal failure--a case report]. 62
8141959 1994
82
The recovery of the fluid balance after hemodialysis and hemofiltration. 62
1563117 1992
83
Long-term EEG monitoring in uremic children on chronic dialysis treatment. 62
1868859 1991
84
Dialysis dysequilibrium syndrome in neurosurgical patients. 62
3110645 1987
85
Wernicke's encephalopathy in patients on peritoneal dialysis or hemodialysis. 62
3827216 1987
86
[A case of chronic subdural hematoma in a hemodialyzed patient]. 62
3724977 1986
87
Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. 62
3939531 1985
88
[Pathologo-anatomical characteristics of hyperosmolar and other comatous conditions]. 62
3922335 1985
89
Changes in visual evoked potentials in children on chronic dialysis treatment. 62
4084912 1985
90
The dialysis dysequilibrium syndrome. 62
6898845 1980
91
Pathogenetic and preventive aspects of non-progressive ataxic syndromes. 62
389719 1979
92
Treatment of diabetic coma with low-dose injections of insulin. 62
954692 1976
93
The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment. 62
4115893 1972
94
The dysequilibrium syndrome in experimental hemodialysis. 62
5454208 1970
95
Role of blood urea and serum sodium concentrations in the pathogenesis of the dialysis dysequilibrium syndrome. 62
5701563 1968
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Variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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

5 (showing 120, show less)
# 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-AS1, VLDLR NM_003383.5(VLDLR):c.2T>C (p.Met1Thr) SNV Likely Pathogenic
 212557 rs797046092 GRCh37: 9:2622191-2622191
GRCh38: 9:2622191-2622191
8 VLDLR NM_003383.5(VLDLR):c.1962+1G>A SNV Likely Pathogenic
 1699105 GRCh37: 9:2648348-2648348
GRCh38: 9:2648348-2648348
9 VLDLR NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter) SNV Likely Pathogenic
 1705671 GRCh37: 9:2641427-2641427
GRCh38: 9:2641427-2641427
10 VLDLR NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr) SNV Likely Pathogenic
 1705926 GRCh37: 9:2650409-2650409
GRCh38: 9:2650409-2650409
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
51 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-99C>G SNV Uncertain Significance
 913613 rs1816811812 GRCh37: 9:2622091-2622091
GRCh38: 9:2622091-2622091
52 VLDLR NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys) SNV Uncertain Significance
 366365 rs886063808 GRCh37: 9:2643669-2643669
GRCh38: 9:2643669-2643669
53 VLDLR NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala) SNV Uncertain Significance
 366366 rs886063809 GRCh37: 9:2643670-2643670
GRCh38: 9:2643670-2643670
54 VLDLR NM_003383.5(VLDLR):c.921C>T (p.Ser307=) SNV Uncertain Significance
 913652 rs777240049 GRCh37: 9:2643728-2643728
GRCh38: 9:2643728-2643728
55 VLDLR NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys) SNV Uncertain Significance
 913653 rs114872818 GRCh37: 9:2643934-2643934
GRCh38: 9:2643934-2643934
56 VLDLR NM_003383.5(VLDLR):c.1066+14T>C SNV Uncertain Significance
 366368 rs762128149 GRCh37: 9:2643973-2643973
GRCh38: 9:2643973-2643973
57 VLDLR NM_003383.5(VLDLR):c.2379A>G (p.Pro793=) SNV Uncertain Significance
 913700 rs1300402424 GRCh37: 9:2651917-2651917
GRCh38: 9:2651917-2651917
58 VLDLR NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr) SNV Uncertain Significance
 913701 rs183359461 GRCh37: 9:2651933-2651933
GRCh38: 9:2651933-2651933
59 VLDLR NM_003383.5(VLDLR):c.2416+13C>T SNV Uncertain Significance
 913702 rs200878136 GRCh37: 9:2651967-2651967
GRCh38: 9:2651967-2651967
60 VLDLR NM_003383.5(VLDLR):c.*16T>C SNV Uncertain Significance
 366375 rs150475109 GRCh37: 9:2653884-2653884
GRCh38: 9:2653884-2653884
61 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-392C>T SNV Uncertain Significance
 366344 rs867729388 GRCh37: 9:2621798-2621798
GRCh38: 9:2621798-2621798
62 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-335C>T SNV Uncertain Significance
 366345 rs557105742 GRCh37: 9:2621855-2621855
GRCh38: 9:2621855-2621855
63 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-303C>G SNV Uncertain Significance
 912497 rs1816795166 GRCh37: 9:2621887-2621887
GRCh38: 9:2621887-2621887
64 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-302T>C SNV Uncertain Significance
 912498 rs1007541973 GRCh37: 9:2621888-2621888
GRCh38: 9:2621888-2621888
65 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-207G>A SNV Uncertain Significance
 912499 rs1429851395 GRCh37: 9:2621983-2621983
GRCh38: 9:2621983-2621983
66 VLDLR NM_003383.5(VLDLR):c.639C>T (p.Asp213=) SNV Uncertain Significance
 912550 rs779155452 GRCh37: 9:2643350-2643350
GRCh38: 9:2643350-2643350
67 VLDLR NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn) SNV Uncertain Significance
 912551 rs113347960 GRCh37: 9:2643351-2643351
GRCh38: 9:2643351-2643351
68 VLDLR NM_003383.5(VLDLR):c.711C>G (p.Thr237=) SNV Uncertain Significance
 912552 rs781637501 GRCh37: 9:2643422-2643422
GRCh38: 9:2643422-2643422
69 VLDLR NM_003383.5(VLDLR):c.828A>C (p.Arg276=) SNV Uncertain Significance
 912553 rs777520243 GRCh37: 9:2643635-2643635
GRCh38: 9:2643635-2643635
70 VLDLR NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) SNV Uncertain Significance
 366373 rs886063811 GRCh37: 9:2648809-2648809
GRCh38: 9:2648809-2648809
71 VLDLR NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg) SNV Uncertain Significance
 912598 rs1454735635 GRCh37: 9:2648810-2648810
GRCh38: 9:2648810-2648810
72 VLDLR NM_003383.5(VLDLR):c.2104+6G>A SNV Uncertain Significance
 912599 rs773398189 GRCh37: 9:2648816-2648816
GRCh38: 9:2648816-2648816
73 VLDLR NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu) SNV Uncertain Significance
 912600 rs1818271045 GRCh37: 9:2650433-2650433
GRCh38: 9:2650433-2650433
74 VLDLR NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys) SNV Uncertain Significance
 912602 rs1818277717 GRCh37: 9:2650516-2650516
GRCh38: 9:2650516-2650516
75 VLDLR NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) SNV Uncertain Significance
 130704 rs148487944 GRCh37: 9:2646492-2646492
GRCh38: 9:2646492-2646492
76 VLDLR NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) SNV Uncertain Significance
 366372 rs754226022 GRCh37: 9:2648672-2648672
GRCh38: 9:2648672-2648672
77 VLDLR NM_003383.5(VLDLR):c.1809C>T (p.Asn603=) SNV Uncertain Significance
 378855 rs6147 GRCh37: 9:2647579-2647579
GRCh38: 9:2647579-2647579
78 VLDLR NM_003383.5(VLDLR):c.2104+5C>T SNV Uncertain Significance
 388504 rs201953557 GRCh37: 9:2648815-2648815
GRCh38: 9:2648815-2648815
79 VLDLR NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser) SNV Uncertain Significance
 912601 rs371150001 GRCh37: 9:2650487-2650487
GRCh38: 9:2650487-2650487
80 VLDLR NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) SNV Uncertain Significance
 212553 rs182216426 GRCh37: 9:2646381-2646381
GRCh38: 9:2646381-2646381
81 VLDLR NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) SNV Uncertain Significance
 366371 rs115773578 GRCh37: 9:2647561-2647561
GRCh38: 9:2647561-2647561
82 VLDLR NM_003383.5(VLDLR):c.582C>T (p.Gly194=) SNV Uncertain Significance
 366363 rs148012674 GRCh37: 9:2643293-2643293
GRCh38: 9:2643293-2643293
83 VLDLR NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) SNV Uncertain Significance
 130702 rs200605669 GRCh37: 9:2645574-2645574
GRCh38: 9:2645574-2645574
84 VLDLR NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) SNV Uncertain Significance
 212555 rs35948251 GRCh37: 9:2648223-2648223
GRCh38: 9:2648223-2648223
85 VLDLR NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) SNV Uncertain Significance
 212561 rs145995735 GRCh37: 9:2643443-2643443
GRCh38: 9:2643443-2643443
86 VLDLR NM_003383.5(VLDLR):c.792C>T (p.Cys264=) SNV Uncertain Significance
 212564 rs141850403 GRCh37: 9:2643503-2643503
GRCh38: 9:2643503-2643503
87 VLDLR NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile) SNV Uncertain Significance
 913699 rs17848383 GRCh37: 9:2651433-2651433
GRCh38: 9:2651433-2651433
88 VLDLR NM_003383.5(VLDLR):c.1179C>T (p.Thr393=) SNV Uncertain Significance
 756495 rs372577949 GRCh37: 9:2644846-2644846
GRCh38: 9:2644846-2644846
89 VLDLR NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln) SNV Uncertain Significance
 437230 rs137946976 GRCh37: 9:2645604-2645604
GRCh38: 9:2645604-2645604
90 VLDLR NM_003383.5(VLDLR):c.944-5T>C SNV Likely Benign
 130715 rs35782329 GRCh37: 9:2643832-2643832
GRCh38: 9:2643832-2643832
91 VLDLR NM_003383.5(VLDLR):c.954C>T (p.Cys318=) SNV Likely Benign
 212566 rs373943845 GRCh37: 9:2643847-2643847
GRCh38: 9:2643847-2643847
92 VLDLR NM_003383.5(VLDLR):c.738C>T (p.Cys246=) SNV Likely Benign
 437220 rs116687040 GRCh37: 9:2643449-2643449
GRCh38: 9:2643449-2643449
93 VLDLR NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met) SNV Likely Benign
 130708 rs56737058 GRCh37: 9:2651454-2651454
GRCh38: 9:2651454-2651454
94 VLDLR NM_003383.5(VLDLR):c.468C>T (p.Pro156=) SNV Likely Benign
 130712 rs2242105 GRCh37: 9:2643179-2643179
GRCh38: 9:2643179-2643179
95 VLDLR NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln) SNV Likely Benign
 130714 rs139671268 GRCh37: 9:2643709-2643709
GRCh38: 9:2643709-2643709
96 VLDLR NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser) SNV Likely Benign
 431884 rs140526335 GRCh37: 9:2639898-2639898
GRCh38: 9:2639898-2639898
97 VLDLR NM_003383.5(VLDLR):c.*534T>C SNV Likely Benign
 912642 rs10967349 GRCh37: 9:2654402-2654402
GRCh38: 9:2654402-2654402
98 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) SNV Likely Benign
 366359 rs754340855 GRCh37: 9:2622260-2622260
GRCh38: 9:2622260-2622260
99 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-171G>C SNV Likely Benign
 366347 rs35763266 GRCh37: 9:2622019-2622019
GRCh38: 9:2622019-2622019
100 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-111C>T SNV Likely Benign
 366351 rs374367278 GRCh37: 9:2622079-2622079
GRCh38: 9:2622079-2622079
101 VLDLR NM_003383.5(VLDLR):c.1066+43C>T SNV Benign
 1237035 GRCh37: 9:2644002-2644002
GRCh38: 9:2644002-2644002
102 VLDLR NM_003383.5(VLDLR):c.1312+27G>A SNV Benign
 674397 rs11793899 GRCh37: 9:2645109-2645109
GRCh38: 9:2645109-2645109
103 VLDLR NM_003383.5(VLDLR):c.*180G>A SNV Benign
 366379 rs3421 GRCh37: 9:2654048-2654048
GRCh38: 9:2654048-2654048
104 VLDLR NM_003383.5(VLDLR):c.*551T>C SNV Benign
 366383 rs8210 GRCh37: 9:2654419-2654419
GRCh38: 9:2654419-2654419
105 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-69A>G SNV Benign
 366352 rs12379259 GRCh37: 9:2622121-2622121
GRCh38: 9:2622121-2622121
106 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-56C>T SNV Benign
 366354 rs34881325 GRCh37: 9:2622134-2622134
GRCh38: 9:2622134-2622134
107 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-113C>G SNV Benign
 366350 rs34433332 GRCh37: 9:2622077-2622077
GRCh38: 9:2622077-2622077
108 VLDLR NM_003383.5(VLDLR):c.1313-17A>T SNV Benign
 1290630 GRCh37: 9:2645557-2645557
GRCh38: 9:2645557-2645557
109 VLDLR NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) SNV Benign
 130706 rs79720897 GRCh37: 9:2648747-2648747
GRCh38: 9:2648747-2648747
110 VLDLR NM_003383.5(VLDLR):c.449-12C>T SNV Benign
 366360 rs73640152 GRCh37: 9:2643148-2643148
GRCh38: 9:2643148-2643148
111 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.-42GGC[9] MICROSAT Benign
 287823 rs71329437 GRCh37: 9:2622146-2622147
GRCh38: 9:2622146-2622147
112 VLDLR NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) SNV Benign
 130707 rs6148 GRCh37: 9:2648773-2648773
GRCh38: 9:2648773-2648773
113 VLDLR NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) SNV Benign
 130703 rs6143 GRCh37: 9:2645719-2645719
GRCh38: 9:2645719-2645719
114 VLDLR NM_003383.5(VLDLR):c.1187-3C>T SNV Benign
 130701 rs11789583 GRCh37: 9:2644954-2644954
GRCh38: 9:2644954-2644954
115 VLDLR NM_003383.5(VLDLR):c.2416+8G>T SNV Benign
 130709 rs6145 GRCh37: 9:2651962-2651962
GRCh38: 9:2651962-2651962
116 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.24G>A (p.Ala8=) SNV Benign
 130710 rs34336270 GRCh37: 9:2622213-2622213
GRCh38: 9:2622213-2622213
117 VLDLR-AS1, VLDLR NM_003383.5(VLDLR):c.82+7G>A SNV Benign
 130713 rs2219143 GRCh37: 9:2622278-2622278
GRCh38: 9:2622278-2622278
118 VLDLR NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) SNV Benign
 130705 rs6149 GRCh37: 9:2635545-2635545
GRCh38: 9:2635545-2635545
119 VLDLR NM_003383.5(VLDLR):c.2339del (p.Ile780fs) DEL Not Provided
 12202 rs80338906 GRCh37: 9:2651877-2651877
GRCh38: 9:2651877-2651877
120 VLDLR NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) SNV Not Provided
 12201 rs80338907 GRCh37: 9:2643480-2643480
GRCh38: 9:2643480-2643480
Sources

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

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

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

About this section

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

(showing 4, show less)
# Super pathways Score Top Affiliating Genes
1
Transport of inorganic cations/anions and amino acids/oligopeptides 66
Show member pathways
 13.07 VLDLR ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2
2
Cardiac conduction 66
Show member pathways
 12.43 ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1
3
Complement cascade 66
Show member pathways
 12.21 ATP8B3 ATP8B1 ATP11C ATP11A ATP10A
4
Ion channel transport 66
Show member pathways
 11.83 ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1
Sources

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

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

(showing 13, show less)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.65 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
2 membrane GO:0016020 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:

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 phospholipid translocation GO:0045332 10.25 ATP10A ATP10D ATP11A ATP11B ATP11C ATP8A1
2 monoatomic 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:

(showing 14, show less)
# 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

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

About this section
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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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