DES
MCID: DYS036
MIFTS: 28

Dysequilibrium Syndrome (DES) malady

Neuronal diseases category

Summaries for Dysequilibrium Syndrome

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21Genetics Home Reference, 63Wikipedia, 32MalaCards
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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 ataxia and gilles de la tourette syndrome. An important gene associated with Dysequilibrium Syndrome is VLDLR (very low density lipoprotein receptor). Affiliated tissues include brain and cerebellum.

Wikipedia:63 VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES;... more...

Aliases & Classifications for Dysequilibrium Syndrome

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42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 60UMLS
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Classifications:

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


Aliases & Descriptions:

dysequilibrium syndrome 42 22 60
cerebellar disorder, nonprogressive, with mental retardation 42 21
cerebellar hypoplasia, vldlr associated 42 20
vldlrch 42 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 42


Related Diseases for Dysequilibrium Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Dysequilibrium Syndrome:



Diseases related to dysequilibrium syndrome

Clinical Features for Dysequilibrium Syndrome

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Drugs & Therapeutics for Dysequilibrium Syndrome

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5CenterWatch, 41NIH 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

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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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32MalaCards
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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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Publications for Dysequilibrium Syndrome

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Genetic Variations for Dysequilibrium Syndrome

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Expression for genes affiliated with Dysequilibrium Syndrome

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1BioGPS, 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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet