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Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental 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 57 75 29 6
Dysequilibrium Syndrome 57 76 53 59 75 29 73
Des 57 53 75 3
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 57 13 6
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 1 57 75
Cerebellar Disorder, Nonprogressive, with Mental Retardation 53 25
Cerebellar Hypoplasia, Vldlr-Associated 57 25
Vldlr-Associated Cerebellar Hypoplasia 24 25
Vldlrch 53 25
Camrq1 57 75
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 25
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 25
Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive 57
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome 59
Congenital Cerebellar Ataxia and Mental Retardation Autosomal Recessive 75
Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome 59
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 25
Cerebellar Hypoplasia, Vldlr Associated 53
Cerebellar Hypoplasia Vldlr-Associated 75
Dialysis Disequilibrium Syndrome 73
Dysequilibrium Syndrome-Vldlr 25
Dysequilibrium Syndrome; Des 57
Camrq Syndrome 59
Des-Vldlr 25
Vldlr-Ch 25
Chmrq1 25

Characteristics:

Orphanet epidemiological data:

59
dysequilibrium syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset
nonprogressive disorder
some patients acquire late ambulation


HPO:

32
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: 34
Orphanet: 59  
Rare neurological diseases


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

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NIH Rare Diseases : 53 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 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). 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 seizures

OMIM : 57 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 : 75 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.

Genetics Home Reference : 25 VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. Children with VLDLR-associated cerebellar hypoplasia may learn to walk later in childhood, usually after the age of 6, although some are never able to walk independently. In one Turkish family, affected people walk on their hands and feet (quadrupedal locomotion).

Wikipedia : 76 VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES;... 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:

# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 29.6 VLDLR WDR81
2 aceruloplasminemia 29.4 VLDLR WDR81
3 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.9
4 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 10.9
5 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10.9
6 ataxia-oculomotor apraxia 3 10.2
7 cerebellar ataxia, mental retardation and dysequlibrium syndrome 8.2 ATP8A2 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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Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 occasional (7.5%) Frequent (79-30%) HP:0001250
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
5 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
6 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
7 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
8 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
9 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
10 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
11 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
12 cerebral palsy 59 32 frequent (33%) Frequent (79-30%) HP:0100021
13 dysarthria 32 HP:0001260
14 global developmental delay 32 HP:0001263
15 delayed speech and language development 32 HP:0000750
16 pes planus 32 HP:0001763
17 abnormality of the eye 59 Occasional (29-5%)
18 abnormality of metabolism/homeostasis 32 HP:0001939
19 abnormality of movement 59 Frequent (79-30%)
20 gait ataxia 32 HP:0002066
21 dysmetria 32 HP:0001310
22 intention tremor 32 HP:0002080
23 cerebellar hypoplasia 32 HP:0001321
24 dysdiadochokinesis 32 HP:0002075
25 truncal ataxia 32 HP:0002078
26 pachygyria 32 HP:0001302
27 cerebellar atrophy 32 HP:0001272
28 generalized hypotonia 32 HP:0001290
29 poor speech 32 HP:0002465
30 broad-based gait 32 HP:0002136
31 gaze-evoked nystagmus 32 HP:0000640
32 cortical gyral simplification 32 HP:0009879
33 hypoplasia of the brainstem 32 HP:0002365

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


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 ATP8A2 CA8 TUBB2B VLDLR WDR81
2 growth/size/body region MP:0005378 9.35 ATP8A2 CA8 TUBB2B VLDLR WDR81
3 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 40)
# 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 Gastrointestinal Agents Phase 2, Phase 3
4 Antacids Phase 2, Phase 3
5 Proton Pump Inhibitors Phase 2, Phase 3
6 Anti-Ulcer Agents Phase 2, Phase 3
7
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
8 glucocorticoids Phase 2
9 Hormone Antagonists Phase 2,Not Applicable
10 Hormones Phase 2,Not Applicable
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Not Applicable
12 Anti-Inflammatory Agents Phase 2
13 Antineoplastic Agents, Hormonal Phase 2,Not Applicable
14 Dialysis Solutions Phase 2
15 Pharmaceutical Solutions Phase 2
16
Acamprosate Approved, Investigational 77337-76-9 71158
17
Ethanol Approved 64-17-5 702
18
Anastrozole Approved, Investigational Not Applicable 120511-73-1 2187
19
Menthol Approved Not Applicable 2216-51-5 16666
20
Glutamic Acid Approved, Nutraceutical 56-86-0 33032
21
leucovorin Approved, Nutraceutical 58-05-9 143 6006
22
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
23 Neurotransmitter Agents
24 N-Methylaspartate
25 Excitatory Amino Acid Agonists
26 Excitatory Amino Acids
27 insulin Not Applicable
28 Mitogens Not Applicable
29 Serotonin Uptake Inhibitors Not Applicable
30 Gentamicins Not Applicable
31 Steroid Synthesis Inhibitors Not Applicable
32 Estrogen Antagonists Not Applicable
33 Estrogens Not Applicable
34 Insulin, Globin Zinc Not Applicable
35 Aromatase Inhibitors Not Applicable
36 Vitamin B Complex
37 Aspartic Acid Nutraceutical
38
Serotonin Investigational, Nutraceutical Not Applicable 50-67-9 5202
39 Folate Nutraceutical
40 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 32)
# 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 A Randomized Controlled Single-Blind Study of the Effects of Instrument-Applied Spinal Manipulative Therapy on Postural Control Completed NCT00521469 Phase 2
4 Prednisone Treatment for Vestibular Neuronitis Completed NCT00271791 Phase 2 Prednisone;Prednisone
5 Dialysate Sodium Lowering Trial Recruiting NCT03144817 Phase 2
6 Safety, Tolerability, PK/PD of FE 203799 in Adults With Lymphomas Not yet recruiting NCT03417765 Phase 1, Phase 2 FE 203799
7 Characterisation of Cortical Vestibular Evoked Potentials (C-VEPs) Unknown status NCT02463695 Not Applicable
8 Genetic Association of Diabetic Retinopathy-1 Unknown status NCT01298245
9 Evaluation of a Sensory Enrichment Multimodal Device (SEMD) on Physical Therapy Patients With Disequilibrium Completed NCT01483937 Not Applicable
10 Mapping of End Stage Renal Disease Genetic Susceptibility in African Americans by Admixture Linkage Disequilibrium Completed NCT00559767
11 Vestibular Evoked Myogenic Potentials in Benign Paroxysmal Positional Vertigo (VEMP in BPPV) Completed NCT01004913
12 Automatic Adaptive System Dialysis (AASD) Completed NCT01241994 Not Applicable
13 Investigation of Genetic Disease Marker Associated With Korean Glaucoma Patients Completed NCT01025024
14 Obesity, Physical Inactivity or Dietary Fat ? Completed NCT00434265 Not Applicable
15 Genetic Susceptibility to Childhood Respiratory IIlness in Mexico City Completed NCT00339521
16 Immunogenetics of Visceral Leishmaniasis Completed NCT00342823
17 Recovery of Visual Acuity in People With Vestibular Deficits Completed NCT00411216 Not Applicable
18 Acamprosate: Genes Associated With Response Completed NCT00662571 acamprosate
19 Bispectral-Electroencephalography (EEG) in First Time Hemodialysis Recruiting NCT03276273
20 Non Invasive Vestibular Stimulation in Modulation of Vestibular and Balance Function Recruiting NCT03554941 Not Applicable
21 Family Investigation of Nephropathy and Diabetes (F.I.N.D.) Recruiting NCT00342927
22 Reclaimâ„¢ Deep Brain Stimulation (DBS) Therapy for Obsessive-Compulsive Disorder (OCD) Recruiting NCT02773082 Not Applicable
23 Scleroderma Registry Recruiting NCT00074568
24 Genetic Epidemiology of Lung Cancer Recruiting NCT00341835
25 Interval Training and Hormones in Chronic Heart Failure Recruiting NCT02322034 Not Applicable
26 Multichannel Vestibular Implant Early Feasibility Study Recruiting NCT02725463 Not Applicable
27 A Study to Evaluate Genetic Predictors of Aromatase Inhibitor Musculoskeletal Symptoms (AIMSS) Recruiting NCT01824836 Not Applicable anastrozole
28 Nutrigenomics, Overweight/Obesity and Weight Management Trial (NOW Trial) Recruiting NCT03015012 Not Applicable
29 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Active, not recruiting NCT00341068
30 Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1) Active, not recruiting NCT00111384
31 Vestibular Rehabilitation for Persons With Multiple Sclerosis: Who Benefits the Most? (MSVR3trial) Active, not recruiting NCT01698086 Not Applicable
32 The Artificial Kidney Initiation in Kidney Injury 2 Not yet recruiting NCT03396757 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 29
2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 29 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:

41
Brain, Cerebellum, Cortex, Kidney, Lung, Heart, Eye
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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:

(show all 19)
# Title Authors Year
1
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. ( 26437881 )
2016
2
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome. ( 25173816 )
2014
3
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. ( 23670308 )
2013
4
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. ( 22973972 )
2012
5
Re-evaluation of the dysequilibrium syndrome. ( 20199520 )
2011
6
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). ( 19332571 )
2009
7
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. ( 18043714 )
2008
8
Human balance, the evolution of bipedalism and dysequilibrium syndrome. ( 16530977 )
2006
9
Opsoclonus-myoclonus-dysequilibrium syndrome: cytological and immunological dynamics in the serial cerebrospinal fluid in two patients. ( 14673573 )
2003
10
Osmotic demyelination syndrome with a dysequilibrium syndrome: reversible MRI findings. ( 9592792 )
1998
11
Dialysis dysequilibrium syndrome in neurosurgical patients. ( 3110645 )
1987
12
The dysequilibrium syndrome: a study of the etiology and pathogenesis. ( 3978855 )
1985
13
Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. ( 3939531 )
1985
14
The dialysis dysequilibrium syndrome. ( 6898845 )
1980
15
Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome. ( 852144 )
1977
16
The dysequilibrium syndrome. A genetic study. ( 4801892 )
1973
17
The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment. ( 4115893 )
1972
18
The dysequilibrium syndrome in experimental hemodialysis. ( 5454208 )
1970
19
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 16)
# 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.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs797046092 GRCh37 Chromosome 9, 2622191: 2622191
14 VLDLR NM_003383.4(VLDLR): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs797046092 GRCh38 Chromosome 9, 2622191: 2622191
15 VLDLR NM_003383.4(VLDLR): c.83-1G> A single nucleotide variant Pathogenic rs770269674 GRCh37 Chromosome 9, 2635452: 2635452
16 VLDLR NM_003383.4(VLDLR): c.83-1G> A single nucleotide variant Pathogenic rs770269674 GRCh38 Chromosome 9, 2635452: 2635452
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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...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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