DES
MCID: DYS036
MIFTS: 33

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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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 based summary: Dysequilibrium Syndrome, also known as vldlrch, is related to cerebellar ataxia and cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1. An important gene associated with Dysequilibrium Syndrome is VLDLR (very low density lipoprotein receptor). Affiliated tissues include brain and cerebellum, and 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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Dysequilibrium Syndrome, Aliases & Descriptions:

Name: Dysequilibrium Syndrome 42 22 62
Vldlrch 42 21 62
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 21 62
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 21 62
Cerebellar Disorder, Nonprogressive, with Mental Retardation 42 21
Cerebellar Hypoplasia, Vldlr Associated 42 20
Vldlr-Associated Cerebellar Hypoplasia 21 62
 
Dysequilibrium Syndrome-Vldlr 21 62
Vldlr-Ch 21 62
Chmrq1 21 62
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 21
Cerebellar Hypoplasia, Vldlr-Associated 21
Des-Vldlr 21
Des 42


Classifications:

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


Related Diseases for Dysequilibrium Syndrome

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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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Drug clinical trials:

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Genetic Tests for Dysequilibrium Syndrome

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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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MalaCards organs/tissues related to Dysequilibrium Syndrome:

32
Brain, Cerebellum

Animal Models for Dysequilibrium Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Dysequilibrium Syndrome:

36
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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Articles related to Dysequilibrium Syndrome:

(show all 18)
idTitleAuthorsYear
1
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome. (25173816)
2014
2
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. (23670308)
2013
3
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion. (22973972)
2012
4
Re-evaluation of the dysequilibrium syndrome. (20199520)
2011
5
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). (19332571)
2009
6
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. (18043714)
2008
7
Human balance, the evolution of bipedalism and dysequilibrium syndrome. (16530977)
2006
8
Opsoclonus-myoclonus-dysequilibrium syndrome: cytological and immunological dynamics in the serial cerebrospinal fluid in two patients. (14673573)
2003
9
Osmotic demyelination syndrome with a dysequilibrium syndrome: reversible MRI findings. (9592792)
1998
10
Dialysis dysequilibrium syndrome in neurosurgical patients. (3110645)
1987
11
The dysequilibrium syndrome: a study of the etiology and pathogenesis. (3978855)
1985
12
Clinical correlation of dysequilibrium syndrome and 4-hydroxybutyric aciduria. (3939531)
1985
13
The dialysis dysequilibrium syndrome. (6898845)
1980
14
Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome. (852144)
1977
15
The dysequilibrium syndrome. A genetic study. (4801892)
1973
16
The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment. (4115893)
1972
17
The dysequilibrium syndrome in experimental hemodialysis. (5454208)
1970
18
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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Clinvar genetic disease variations for Dysequilibrium Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1VLDLRNG_012741.1: g.(?_5001)_(37693_?)deldeletionPathogenic
2VLDLRNM_003383.3(VLDLR): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs80338905GRCh37Chr 9, 2645603: 2645603
3VLDLRNM_003383.3(VLDLR): c.1247_1253delGTTACAA (p.Tyr417Valfs)deletionPathogenicrs398122380GRCh37Chr 9, 2645017: 2645023
4VLDLRNM_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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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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  • Antibodies
  • Proteins
  • Lysates

Sources for Dysequilibrium Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet