DES
MCID: DYS036
MIFTS: 30

Dysequilibrium Syndrome (DES) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Dysequilibrium Syndrome

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21Genetics Home Reference, 65Wikipedia, 33MalaCards
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Genetics Home Reference:21 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).

MalaCards: Dysequilibrium Syndrome, also known as cerebellar disorder, nonprogressive, with mental retardation, is related to cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 and cerebellar ataxia. An important gene associated with Dysequilibrium Syndrome is VLDLR (very low density lipoprotein receptor). Related mouse phenotypes are hearing/vestibular/ear and growth/size/body.

Wikipedia:65 VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES;... more...

Aliases & Classifications for Dysequilibrium Syndrome

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43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Aliases & Descriptions:

dysequilibrium syndrome 43 22 62
cerebellar disorder, nonprogressive, with mental retardation 43 21
cerebellar hypoplasia, vldlr associated 43 20
vldlrch 43 21
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 21
autosomal recessive cerebellar hypoplasia with cerebral gyral simplification 21
autosomal recessive cerebellar ataxia with mental retardation 21
cerebellar hypoplasia, vldlr-associated 21
vldlr-associated cerebellar hypoplasia 21
dysequilibrium syndrome-vldlr 21
des-vldlr 21
vldlr-ch 21
chmrq1 21
des 43


Related Diseases for Dysequilibrium Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Dysequilibrium Syndrome:



Diseases related to dysequilibrium syndrome

Symptoms for Dysequilibrium Syndrome

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Drugs & Therapeutics for Dysequilibrium Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Dysequilibrium Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Dysequilibrium Syndrome:

id Genetic test Affiliating Genes
1 Vldlr-Associated Cerebellar Hypoplasia20 VLDLR
2 Dysequilibrium Syndrome22

Anatomical Context for Dysequilibrium Syndrome

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Animal Models for Dysequilibrium Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Dysequilibrium Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8CA8, ATP8A2
2MP:00053788.6CA8, VLDLR, ATP8A2
3MP:00053868.5CA8, VLDLR, ATP8A2

Publications for Dysequilibrium Syndrome

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52PubMed
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Articles related to Dysequilibrium Syndrome:

(show all 17)
idTitleAuthorsYear
1
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. (23670308)
2013
2
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. (22973972)
2012
3
Re-evaluation of the dysequilibrium syndrome. (20199520)
2011
4
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). (19332571)
2009
5
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. (18043714)
2008
6
Human balance, the evolution of bipedalism and dysequilibrium syndrome. (16530977)
2006
7
Opsoclonus-myoclonus-dysequilibrium syndrome: cytological and immunological dynamics in the serial cerebrospinal fluid in two patients. (14673573)
2003
8
Osmotic demyelination syndrome with a dysequilibrium syndrome: reversible MRI findings. (9592792)
1998
9
Dialysis dysequilibrium syndrome in neurosurgical patients. (3110645)
1987
10
The dysequilibrium syndrome: a study of the etiology and pathogenesis. (3978855)
1985
11
Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. (3939531)
1985
12
The dialysis dysequilibrium syndrome. (6898845)
1980
13
Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome. (852144)
1977
14
The dysequilibrium syndrome. A genetic study. (4801892)
1973
15
The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment. (4115893)
1972
16
The dysequilibrium syndrome in experimental hemodialysis. (5454208)
1970
17
Role of blood urea and serum sodium concentrations in the pathogenesis of the dialysis dysequilibrium syndrome. (5701563)
1968

Variations for Dysequilibrium Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dysequilibrium Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1VLDLRNG_012741.1: g.(?_5001)_(37693_?)deldeletionPathogenic/card/dysequilibrium_syndrome
2VLDLRNM_003383.3(VLDLR): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs80338907GRCh37Chr 9, 2643480: 2643480
3VLDLRNM_003383.3(VLDLR): c.2339delT (p.Ile780Thrfs)deletionPathogenicrs80338906GRCh37Chr 9, 2651877: 2651877
4VLDLRNM_003383.3(VLDLR): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs80338905GRCh37Chr 9, 2645603: 2645603
5VLDLRNM_003383.3(VLDLR): c.1247_1253delGTTACAA (p.Tyr417Valfs)deletionPathogenicrs398122380GRCh37Chr 9, 2645017: 2645023
6VLDLRNM_003383.3(VLDLR): c.2117G> T (p.Cys706Phe)single nucleotide variantPathogenicrs397514750GRCh37Chr 9, 2650382: 2650382

Expression for genes affiliated with Dysequilibrium Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dysequilibrium Syndrome

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Pathways for genes affiliated with Dysequilibrium Syndrome

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Compounds for genes affiliated with Dysequilibrium Syndrome

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GO Terms for genes affiliated with Dysequilibrium Syndrome

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Products for genes affiliated with Dysequilibrium Syndrome

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Sources for Dysequilibrium Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet