DES
MCID: DYS036
MIFTS: 32

Dysequilibrium Syndrome (DES) malady

Neuronal category

Summaries for Dysequilibrium Syndrome

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21Genetics Home Reference, 64Wikipedia, 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 acute leukemia. An important gene associated with Dysequilibrium Syndrome is VLDLR (very low density lipoprotein receptor). Affiliated tissues include brain and cerebellum.

Wikipedia:64 VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES;... more...

Aliases & Classifications for Dysequilibrium Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 22GTR, 61UMLS, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

dysequilibrium syndrome 43 22 61
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

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Dysequilibrium Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 1192)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar hypoplasia30.4VLDLR
2acute leukemia10.7
3acute myeloid leukemia10.7
4cornelia de lange syndrome10.5
5linear scleroderma10.4
6hepatitis a10.4
7thyroiditis10.4
8hepatitis c10.3
9adenocarcinoma10.3
10subacute thyroiditis10.3
11fanconi syndrome10.3
12adenoma10.3
13lymphoma, diffuse large cell10.3
14toni-fanconi syndrome10.3
15vldlr-associated cerebellar hypoplasia10.3
16cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.3
17cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.3
18cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.3
19sporotrichosis10.3
20myelodysplastic syndromes10.3
21microcephaly10.3
22acute myeloid leukemia, adult10.3
23autoimmune hepatitis10.2
24micro syndrome10.2
25char syndrome10.2
26multiple endocrine neoplasia10.2
27septo-optic dysplasia10.2
28koolen-de vries syndrome10.2
29hepatitis d10.2
30mal de debarquement10.2
31cavernous malformation10.2
32n syndrome10.2
33mental retardation10.2
34ataxia10.2
35membranous glomerulonephritis10.2
36hypokalemia10.2
37t-cell leukemia10.2
38clear cell adenocarcinoma10.2
39tooth disease10.2
40short stature10.2
41hepatitis e10.2
42gilles de la tourette syndrome10.2
43follicular lymphoma10.2
44keratoderma10.2
45obsessive-compulsive disorder10.1
46hypertrophic cardiomyopathy10.1
47adult syndrome10.1
48zollinger-ellison syndrome10.1
49ectodermal dysplasia10.1
50pioderma gangrenosum10.1

Graphical network of the top 20 diseases related to Dysequilibrium Syndrome:



Diseases related to dysequilibrium syndrome

Clinical Features for Dysequilibrium Syndrome

Drugs & Therapeutics for Dysequilibrium Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Dysequilibrium Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Dysequilibrium Syndrome:

33
Brain, Cerebellum

Animal Models for Dysequilibrium Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Dysequilibrium Syndrome

Sources:
51PubMed
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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

Genetic Variations for Dysequilibrium Syndrome

Expression for genes affiliated with Dysequilibrium Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dysequilibrium Syndrome

Search GEO for disease gene expression data for Dysequilibrium Syndrome.

Pathways for genes affiliated with Dysequilibrium Syndrome

Compounds for genes affiliated with Dysequilibrium Syndrome

GO Terms for genes affiliated with Dysequilibrium Syndrome

Products for genes affiliated with Dysequilibrium Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dysequilibrium Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet