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CAMRQ1
MCID: CRB185
MIFTS: 49

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

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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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 58 76 30 6
Dysequilibrium Syndrome 58 77 54 60 76 30 6 74
Des 58 54 76 3
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 58 13 6
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 1 58 76
Cerebellar Disorder, Nonprogressive, with Mental Retardation 54 26
Cerebellar Hypoplasia, Vldlr-Associated 58 26
Vldlr-Associated Cerebellar Hypoplasia 25 26
Vldlrch 54 26
Camrq1 58 76
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 26
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 26
Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive 58
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome 60
Congenital Cerebellar Ataxia and Mental Retardation Autosomal Recessive 76
Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome 60
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 26
Cerebellar Hypoplasia, Vldlr Associated 54
Cerebellar Hypoplasia Vldlr-Associated 76
Dialysis Disequilibrium Syndrome 74
Dysequilibrium Syndrome-Vldlr 26
Dysequilibrium Syndrome; Des 58
Camrq Syndrome 60
Des-Vldlr 26
Vldlr-Ch 26
Chmrq1 26

Characteristics:

Orphanet epidemiological data:

60
dysequilibrium syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset
nonprogressive disorder
some patients acquire late ambulation


HPO:

33
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1:
Onset and clinical course congenital onset nonprogressive
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases


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

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NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1766Disease definitionDysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.EpidemiologyTo date, more than 50 individuals have been reported in the world literature.Clinical descriptionDES 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.EtiologyEtiological 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 counselingTransmission 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 hypoplasia and aceruloplasminemia, and has symptoms including gait ataxia, dysdiadochokinesis and action tremor. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 is VLDLR (Very Low Density Lipoprotein Receptor). The drugs Lansoprazole and Dexlansoprazole have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are intellectual disability and ataxia

Genetics Home Reference : 26 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).

OMIM : 58 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 : 76 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 : 77 VLDLR-associated cerebellar hypoplasia (VLDLRCH) is a rare autosomal recessive condition caused by a... more...

GeneReviews:
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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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 30.4 VLDLR WDR81
2 aceruloplasminemia 30.0 VLDLR WDR81
3 cerebellar ataxia, mental retardation and dysequlibrium syndrome 28.6 ATP8A2 CA8 VLDLR WDR81
4 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 11.1
5 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 11.1
6 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 11.1
7 ataxia and polyneuropathy, adult-onset 10.3
8 succinic semialdehyde dehydrogenase deficiency 9.9
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
10 cerebral palsy 9.9
11 autosomal recessive cerebellar ataxia 9.9
12 sensorineural hearing loss 9.9
13 myoclonus 9.9
14 cerebellar ataxia, nonprogressive, with mental retardation 9.4 CA8 VLDLR WDR81

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:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
5 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
6 seizures 60 33 occasional (7.5%) Frequent (79-30%) HP:0001250
7 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
8 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
9 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
10 cerebral palsy 60 33 frequent (33%) Frequent (79-30%) HP:0100021
11 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
12 abnormality of vision 60 33 occasional (7.5%) Occasional (29-5%) HP:0000504
13 dysarthria 33 HP:0001260
14 global developmental delay 33 HP:0001263
15 delayed speech and language development 33 HP:0000750
16 pes planus 33 HP:0001763
17 abnormality of the eye 60 Occasional (29-5%)
18 abnormality of metabolism/homeostasis 33 HP:0001939
19 abnormality of movement 60 Frequent (79-30%)
20 gait ataxia 33 HP:0002066
21 dysmetria 33 HP:0001310
22 intention tremor 33 HP:0002080
23 cerebellar hypoplasia 33 HP:0001321
24 dysdiadochokinesis 33 HP:0002075
25 truncal ataxia 33 HP:0002078
26 pachygyria 33 HP:0001302
27 cerebellar atrophy 33 HP:0001272
28 generalized hypotonia 33 HP:0001290
29 poor speech 33 HP:0002465
30 broad-based gait 33 HP:0002136
31 gaze-evoked nystagmus 33 HP:0000640
32 hypoplasia of the brainstem 33 HP:0002365
33 simplified gyral pattern 33 HP:0009879
34 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
hyperreflexia
gait ataxia
dysmetria
intention tremor
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

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


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

MGI Mouse Phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 ATP8A2 CA8 TUBB2B VLDLR WDR81
2 nervous system MP:0003631 9.02 ATP8A2 CA8 TUBB2B VLDLR WDR81
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Drugs & Therapeutics for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lansoprazole Approved, Investigational Phase 2, Phase 3 103577-45-3 3883
2
Dexlansoprazole Approved, Investigational Phase 2, Phase 3 138530-94-6, 103577-45-3 9578005
3 Proton Pump Inhibitors Phase 2, Phase 3
4 Antacids Phase 2, Phase 3
5 Anti-Ulcer Agents Phase 2, Phase 3
6 Gastrointestinal Agents Phase 2, Phase 3
7
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
8
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
9 Dialysis Solutions Phase 2
10 Pharmaceutical Solutions Phase 2
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Not Applicable
12 Hormone Antagonists Phase 2,Not Applicable
13 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
14 Anti-Inflammatory Agents Phase 2
15 glucocorticoids Phase 2
16 Hormones Phase 2,Not Applicable
17
leucovorin Approved 58-05-9 143 6006
18
Ethanol Approved 64-17-5 702
19
Acamprosate Approved, Investigational 77337-76-9 71158
20
carbamide peroxide Approved Not Applicable 124-43-6
21
Mecasermin Approved, Investigational Not Applicable 68562-41-4
22
Anastrozole Approved, Investigational Not Applicable 120511-73-1 2187
23
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
24
Glutamic Acid Approved, Nutraceutical 56-86-0 33032
25 Vitamin B Complex
26 Folate
27 Vitamin B9
28 Excitatory Amino Acids
29 Excitatory Amino Acid Agonists
30 N-Methylaspartate
31 Neurotransmitter Agents
32 Aspartic Acid
33 Serotonin Uptake Inhibitors Not Applicable
34 insulin Not Applicable
35 Insulin, Globin Zinc Not Applicable
36 Mitogens Not Applicable
37 Gentamicins Not Applicable
38 Estrogen Receptor Antagonists Not Applicable
39 Steroid Synthesis Inhibitors Not Applicable
40 Estrogens Not Applicable
41 Aromatase Inhibitors Not Applicable
42 Estrogen Antagonists Not Applicable
43
Serotonin Investigational, Nutraceutical Not Applicable 50-67-9 5202

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery Unknown status NCT02719093 Phase 4 recombinant FSH
2 Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation Unknown status NCT00789061 Phase 2, Phase 3 Proton pump inhibitor
3 Dialysate Sodium Lowering Trial Unknown status NCT03144817 Phase 2
4 A Randomized Controlled Single-Blind Study of the Effects of Instrument-Applied Spinal Manipulative Therapy on Postural Control Completed NCT00521469 Phase 2
5 Prednisone Treatment for Vestibular Neuronitis Completed NCT00271791 Phase 2 Prednisone;Prednisone
6 Modulating ApoE Signalling to Reduce Brain Inflammation, deLirium and postopErative Cognitive Dysfunction Recruiting NCT03802396 Phase 2 CN-105;Placebo
7 Safety, Tolerability, PK/PD of FE 203799 in Adults With Lymphomas Withdrawn NCT03417765 Phase 1, Phase 2 FE 203799
8 Characterisation of Cortical Vestibular Evoked Potentials (C-VEPs) Unknown status NCT02463695 Not Applicable
9 Genetic Association of Diabetic Retinopathy-1 Unknown status NCT01298245
10 Evaluation of a Sensory Enrichment Multimodal Device (SEMD) on Physical Therapy Patients With Disequilibrium Completed NCT01483937 Not Applicable
11 Mapping of End Stage Renal Disease Genetic Susceptibility in African Americans by Admixture Linkage Disequilibrium Completed NCT00559767
12 Vestibular Rehabilitation and Dizziness Completed NCT01729039 Not Applicable
13 Vestibular Evoked Myogenic Potentials in Benign Paroxysmal Positional Vertigo (VEMP in BPPV) Completed NCT01004913
14 Automatic Adaptive System Dialysis (AASD) Completed NCT01241994 Not Applicable
15 Investigation of Genetic Disease Marker Associated With Korean Glaucoma Patients Completed NCT01025024
16 Obesity, Physical Inactivity or Dietary Fat ? Completed NCT00434265 Not Applicable
17 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068
18 Genetic Susceptibility to Childhood Respiratory IIlness in Mexico City Completed NCT00339521
19 Immunogenetics of Visceral Leishmaniasis Completed NCT00342823
20 The Influence of BMI on Core Stability in Healthy Adults Completed NCT03756831 Not Applicable
21 Recovery of Visual Acuity in People With Vestibular Deficits Completed NCT00411216 Not Applicable
22 Acamprosate: Genes Associated With Response Completed NCT00662571 acamprosate
23 Vestibular Rehabilitation for Persons With Multiple Sclerosis: Who Benefits the Most? (MSVR3trial) Completed NCT01698086 Not Applicable
24 Bispectral-Electroencephalography (EEG) in First Time Hemodialysis Recruiting NCT03276273
25 The Artificial Kidney Initiation in Kidney Injury 2 Recruiting NCT03396757 Not Applicable
26 Non Invasive Vestibular Stimulation in Modulation of Vestibular and Balance Function Recruiting NCT03554941 Not Applicable
27 Genetic Factors and Immunological Determinism of Persistent Consequences of Chikungunya Recruiting NCT03690648
28 Family Investigation of Nephropathy and Diabetes (F.I.N.D.) Recruiting NCT00342927
29 Reclaimâ„¢ Deep Brain Stimulation (DBS) Therapy for Obsessive-Compulsive Disorder (OCD) Recruiting NCT02773082 Not Applicable
30 Scleroderma Registry Recruiting NCT00074568
31 Interval Training and Hormones in Chronic Heart Failure Recruiting NCT02322034 Not Applicable
32 Multichannel Vestibular Implant Early Feasibility Study Recruiting NCT02725463 Not Applicable
33 A Study to Evaluate Genetic Predictors of Aromatase Inhibitor Musculoskeletal Symptoms (AIMSS) Recruiting NCT01824836 Not Applicable anastrozole
34 Nutrigenomics, Overweight/Obesity and Weight Management Trial (NOW Trial) Recruiting NCT03015012 Not Applicable

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 30
2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 30 VLDLR
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Anatomical Context for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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

42
Brain, Cerebellum, Cortex, Kidney, Skeletal Muscle, Heart, Eye
Sources

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

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

(show all 25)
# Title Authors Year
1
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome. ( 29371607 )
2018
2
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. ( 26437881 )
2016
3
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation. ( 27251579 )
2016
4
Characterization of a novel zebrafish (Danio rerio) gene, wdr81, associated with cerebellar ataxia, mental retardation and dysequilibrium syndrome (CAMRQ). ( 27390838 )
2015
5
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome. ( 25173816 )
2014
6
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. ( 23670308 )
2013
7
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. ( 22973972 )
2012
8
Exome sequencing can improve diagnosis and alter patient management. ( 22700954 )
2012
9
Re-evaluation of the dysequilibrium syndrome. ( 20199520 )
2011
10
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). ( 19332571 )
2009
11
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. ( 18043714 )
2008
12
Human balance, the evolution of bipedalism and dysequilibrium syndrome. ( 16530977 )
2006
13
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. ( 16080122 )
2005
14
Opsoclonus-myoclonus-dysequilibrium syndrome: cytological and immunological dynamics in the serial cerebrospinal fluid in two patients. ( 14673573 )
2003
15
Pontocerebellar hypoplasia in two siblings with dysmorphic features. ( 11913577 )
2002
16
Osmotic demyelination syndrome with a dysequilibrium syndrome: reversible MRI findings. ( 9592792 )
1998
17
Dialysis dysequilibrium syndrome in neurosurgical patients. ( 3110645 )
1987
18
Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. ( 3939531 )
1985
19
The dysequilibrium syndrome: a study of the etiology and pathogenesis. ( 3978855 )
1985
20
The dialysis dysequilibrium syndrome. ( 6898845 )
1980
21
Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome. ( 852144 )
1977
22
The dysequilibrium syndrome. A genetic study. ( 4801892 )
1973
23
The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment. ( 4115893 )
1972
24
The dysequilibrium syndrome in experimental hemodialysis. ( 5454208 )
1970
25
Role of blood urea and serum sodium concentrations in the pathogenesis of the dialysis dysequilibrium syndrome. ( 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:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 VLDLR NG_012741.1: g.(?_5001)_(37693_?)del deletion Pathogenic GRCh37 Chromosome 9, 2621793: 2654485
2 VLDLR NG_012741.1: g.(?_5001)_(37693_?)del deletion Pathogenic GRCh38 Chromosome 9, 2621793: 2654485
3 VLDLR NM_003383.4(VLDLR): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs80338907 GRCh37 Chromosome 9, 2643480: 2643480
4 VLDLR NM_003383.4(VLDLR): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs80338907 GRCh38 Chromosome 9, 2643480: 2643480
5 VLDLR NM_003383.4(VLDLR): c.2339delT (p.Ile780Thrfs) deletion Pathogenic rs80338906 GRCh37 Chromosome 9, 2651877: 2651877
6 VLDLR NM_003383.4(VLDLR): c.2339delT (p.Ile780Thrfs) deletion Pathogenic rs80338906 GRCh38 Chromosome 9, 2651877: 2651877
7 VLDLR NM_003383.4(VLDLR): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs80338905 GRCh37 Chromosome 9, 2645603: 2645603
8 VLDLR NM_003383.4(VLDLR): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs80338905 GRCh38 Chromosome 9, 2645603: 2645603
9 VLDLR NM_003383.4(VLDLR): c.1247_1253delGTTACAA (p.Tyr417Valfs) deletion Pathogenic rs398122380 GRCh37 Chromosome 9, 2645017: 2645023
10 VLDLR NM_003383.4(VLDLR): c.1247_1253delGTTACAA (p.Tyr417Valfs) deletion Pathogenic rs398122380 GRCh38 Chromosome 9, 2645017: 2645023
11 VLDLR NM_003383.4(VLDLR): c.2117G> T (p.Cys706Phe) single nucleotide variant Pathogenic rs397514750 GRCh37 Chromosome 9, 2650382: 2650382
12 VLDLR NM_003383.4(VLDLR): c.2117G> T (p.Cys706Phe) single nucleotide variant Pathogenic rs397514750 GRCh38 Chromosome 9, 2650382: 2650382
13 VLDLR NM_003383.4(VLDLR): c.2291C> T (p.Thr764Met) single nucleotide variant Likely benign rs56737058 GRCh37 Chromosome 9, 2651454: 2651454
14 VLDLR NM_003383.4(VLDLR): c.2291C> T (p.Thr764Met) single nucleotide variant Likely benign rs56737058 GRCh38 Chromosome 9, 2651454: 2651454
15 VLDLR NM_003383.4(VLDLR): c.1901G> A (p.Arg634His) single nucleotide variant Uncertain significance rs35339834 GRCh37 Chromosome 9, 2648286: 2648286
16 VLDLR NM_003383.4(VLDLR): c.1901G> A (p.Arg634His) single nucleotide variant Uncertain significance rs35339834 GRCh38 Chromosome 9, 2648286: 2648286
17 VLDLR NM_003383.4(VLDLR): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs797046092 GRCh37 Chromosome 9, 2622191: 2622191
18 VLDLR NM_003383.4(VLDLR): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs797046092 GRCh38 Chromosome 9, 2622191: 2622191
19 VLDLR NM_003383.4(VLDLR): c.83-1G> A single nucleotide variant Pathogenic rs770269674 GRCh37 Chromosome 9, 2635452: 2635452
20 VLDLR NM_003383.4(VLDLR): c.83-1G> A single nucleotide variant Pathogenic rs770269674 GRCh38 Chromosome 9, 2635452: 2635452
21 VLDLR NM_003383.4(VLDLR): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance rs767529669 GRCh37 Chromosome 9, 2643403: 2643403
22 VLDLR NM_003383.4(VLDLR): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance rs767529669 GRCh38 Chromosome 9, 2643403: 2643403
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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.
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Pathways for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

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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:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 8.62 VLDLR WDR81

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 lipid transport GO:0006869 8.62 ATP8A2 VLDLR
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Sources for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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