CAMRQ1
MCID: CRB185
MIFTS: 45

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

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:

Name: Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 57 75 29 6
Dysequilibrium Syndrome 57 76 53 59 75 29 6 73
Des 57 53 75 3
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 57 13 6
Camrq1 57 24 75
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
Dysequilibrium Syndrome-Vldlr 24 25
Vldlrch 53 25
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 25
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 25
Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive 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
Cerebellar Ataxia, Mental Retardation,dysequilibrium Syndrome 1 24
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 25
Cerebellar Hypoplasia, Vldlr Associated 53
Cerebellar Hypoplasia Vldlr-Associated 75
Dialysis Disequilibrium Syndrome 73
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:

Orphanet: 59  
Rare neurological diseases


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

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 aceruloplasminemia and cerebellar hypoplasia, 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). Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are intellectual disability and 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).

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.

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

GeneReviews: NBK1874

Related Diseases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium...

Graphical network of the top 20 diseases related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:



Diseases related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

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

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:


gait ataxia, dysdiadochokinesis, action tremor, ataxia, truncal, cerebellar 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 9.35 ATP8A2 CA8 TUBB2B VLDLR WDR81
2 nervous system MP:0003631 9.02 ATP8A2 CA8 TUBB2B VLDLR WDR81

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bispectral-Electroencephalography (EEG) in First Time Hemodialysis Recruiting NCT03276273
2 The Artificial Kidney Initiation in Kidney Injury 2 Recruiting NCT03396757 Not Applicable

Search NIH Clinical Center for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

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

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

# Genetic test Affiliating Genes
1 Dysequilibrium Syndrome 29
2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 29 VLDLR

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

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

41
Brain, Cerebellum, Cortex, Kidney, Eye, Skeletal Muscle

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

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

(show all 22)
# 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
Re-evaluation of the dysequilibrium syndrome. ( 20199520 )
2011
9
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). ( 19332571 )
2009
10
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. ( 18043714 )
2008
11
Human balance, the evolution of bipedalism and dysequilibrium syndrome. ( 16530977 )
2006
12
Opsoclonus-myoclonus-dysequilibrium syndrome: cytological and immunological dynamics in the serial cerebrospinal fluid in two patients. ( 14673573 )
2003
13
Osmotic demyelination syndrome with a dysequilibrium syndrome: reversible MRI findings. ( 9592792 )
1998
14
Dialysis dysequilibrium syndrome in neurosurgical patients. ( 3110645 )
1987
15
The dysequilibrium syndrome: a study of the etiology and pathogenesis. ( 3978855 )
1985
16
Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. ( 3939531 )
1985
17
The dialysis dysequilibrium syndrome. ( 6898845 )
1980
18
Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome. ( 852144 )
1977
19
The dysequilibrium syndrome. A genetic study. ( 4801892 )
1973
20
The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment. ( 4115893 )
1972
21
The dysequilibrium syndrome in experimental hemodialysis. ( 5454208 )
1970
22
Role of blood urea and serum sodium concentrations in the pathogenesis of the dialysis dysequilibrium syndrome. ( 5701563 )
1968

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

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

6 (show all 18)
# 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
17 VLDLR NM_003383.4(VLDLR): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance rs767529669 GRCh37 Chromosome 9, 2643403: 2643403
18 VLDLR NM_003383.4(VLDLR): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance rs767529669 GRCh38 Chromosome 9, 2643403: 2643403

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

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

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

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

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

# 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

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

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