MCID: VLD001
MIFTS: 12

Vldlr-Associated Cerebellar Hypoplasia malady

Neuronal diseases, Mental diseases categories
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Summaries for Vldlr-Associated Cerebellar Hypoplasia

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MalaCards based summary: Vldlr-Associated Cerebellar Hypoplasia, also known as dysequilibrium syndrome-vldlr, is related to dysequilibrium syndrome and cerebellar hypoplasia. An important gene associated with Vldlr-Associated Cerebellar Hypoplasia is VLDLR (very low density lipoprotein receptor).

GeneReviews summary for vldlr-ch

Aliases & Classifications for Vldlr-Associated Cerebellar Hypoplasia

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Vldlr-Associated Cerebellar Hypoplasia, Aliases & Descriptions:

Name: Vldlr-Associated Cerebellar Hypoplasia 19 62
Dysequilibrium Syndrome-Vldlr 19 62
Cerebellar Ataxia, Mental Retardation,dysequilibrium Syndrome 1 19
 
Dysequilibrium Syndrome 62
Camrq1 19


Classifications:

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


Related Diseases for Vldlr-Associated Cerebellar Hypoplasia

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Diseases related to Vldlr-Associated Cerebellar Hypoplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dysequilibrium syndrome11.0
2cerebellar hypoplasia10.3
3cerebellar ataxia10.0
4mental retardation10.0
5ataxia10.0
6cerebellar ataxia and mental retardation with or without quadrupedal locomotion 310.0
7cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.0
8cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.0

Graphical network of diseases related to Vldlr-Associated Cerebellar Hypoplasia:



Diseases related to vldlr-associated cerebellar hypoplasia

Symptoms for Vldlr-Associated Cerebellar Hypoplasia

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Drugs & Therapeutics for Vldlr-Associated Cerebellar Hypoplasia

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Drug clinical trials:

Search ClinicalTrials for Vldlr-Associated Cerebellar Hypoplasia

Search NIH Clinical Center for Vldlr-Associated Cerebellar Hypoplasia

Genetic Tests for Vldlr-Associated Cerebellar Hypoplasia

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Anatomical Context for Vldlr-Associated Cerebellar Hypoplasia

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Animal Models for Vldlr-Associated Cerebellar Hypoplasia or affiliated genes

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Publications for Vldlr-Associated Cerebellar Hypoplasia

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Articles related to Vldlr-Associated Cerebellar Hypoplasia:

idTitleAuthorsYear
1
VLDLR-Associated Cerebellar Hypoplasia (20301729)
1993

Variations for Vldlr-Associated Cerebellar Hypoplasia

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Clinvar genetic disease variations for Vldlr-Associated Cerebellar Hypoplasia:

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 Vldlr-Associated Cerebellar Hypoplasia

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Expression patterns in normal tissues for genes affiliated with Vldlr-Associated Cerebellar Hypoplasia

Search GEO for disease gene expression data for Vldlr-Associated Cerebellar Hypoplasia.

Pathways for genes affiliated with Vldlr-Associated Cerebellar Hypoplasia

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Compounds for genes affiliated with Vldlr-Associated Cerebellar Hypoplasia

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GO Terms for genes affiliated with Vldlr-Associated Cerebellar Hypoplasia

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Products for genes affiliated with Vldlr-Associated Cerebellar Hypoplasia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Vldlr-Associated Cerebellar Hypoplasia

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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