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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Sources:
19GeneReviews, 33MalaCards
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MalaCards: Vldlr-Associated Cerebellar Hypoplasia, also known as cerebellar ataxia, mental retardation,dysequilibrium syndrome 1, 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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19GeneReviews, 62UMLS
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Classifications:

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


Aliases & Descriptions:

vldlr-associated cerebellar hypoplasia 19
cerebellar ataxia, mental retardation,dysequilibrium syndrome 1 19
dysequilibrium syndrome-vldlr 19
dysequilibrium syndrome 62
camrq1 19


Related Diseases for Vldlr-Associated Cerebellar Hypoplasia

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17GeneCards, 18GeneDecks
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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 syndrome10.9
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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Vldlr-Associated Cerebellar Hypoplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1VLDLRNG_012741.1: g.(?_5001)_(37693_?)deldeletionPathogenic/card/vldlr_associated_cerebellar_hypoplasia
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 Vldlr-Associated Cerebellar Hypoplasia

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Vldlr-Associated Cerebellar Hypoplasia

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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