MCID: CRB106
MIFTS: 30

Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 malady

Neuronal diseases, Rare diseases, Mental diseases categories
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Summaries for Cerebellar Hypoplasia and Mental Retardation with or Without...

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47OMIM, 33MalaCards
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MalaCards: Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1, also known as dysequilibrium syndrome, is related to cerebellar ataxia and dysequilibrium syndrome, and has symptoms including strabismus/squint, movement disorder and anomalies of eyes and vision. An important gene associated with Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 is VLDLR (very low density lipoprotein receptor). Affiliated tissues include eye, and related mouse phenotypes are hearing/vestibular/ear and growth/size/body.

Description from OMIM:47 224050,610185,613227,615268

Aliases & Classifications for Cerebellar Hypoplasia and Mental Retardation with or Without...

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49Orphanet, 62UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
dysequilibrium syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 47
dysequilibrium syndrome 49 62
cerebellar ataxia - intellectual disability - dysequilibrium syndrome 49
non-progressive cerebellar ataxia - intellectual disability 49
camrq syndrome 49


External Ids:

MESH via Orphanet36 C535731
ICD10 via Orphanet26 G11.8
SNOMED-CT via Orphanet59 230782004
UMLS via Orphanet63 C0394006

Related Diseases for Cerebellar Hypoplasia and Mental Retardation with or Without...

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17GeneCards, 18GeneDecks
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Diseases related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia30.4WDR81
2dysequilibrium syndrome10.7
3vldlr-associated cerebellar hypoplasia10.3
4cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.3
5cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.3
6mental retardation10.2
7ataxia10.2
8cerebritis10.1
9cerebral palsy10.1
10myoclonus10.1
11cerebellar ataxia and mental retardation with or without quadrupedal locomotion 310.1
12diethylstilbestrol syndrome10.1

Graphical network of diseases related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:



Diseases related to cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1

Symptoms for Cerebellar Hypoplasia and Mental Retardation with or Without...

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

224050

Clinical features from OMIM:

224050,610185,613227,615268

Symptoms:

49 (show all 14)
  • strabismus/squint
  • movement disorder
  • anomalies of eyes and vision
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • short stature/dwarfism/nanism
  • cataract/lens opacification
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • ataxia/incoordination/trouble of the equilibrium
  • abnormal gait
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypereflexia
  • autosomal recessive inheritance

Drugs & Therapeutics for Cerebellar Hypoplasia and Mental Retardation with or Without...

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1

Search NIH Clinical Center for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1

Genetic Tests for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Anatomical Context for Cerebellar Hypoplasia and Mental Retardation with or Without...

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33MalaCards
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MalaCards organs/tissues related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

33
Eye

Animal Models for Cerebellar Hypoplasia and Mental Retardation with or Without... or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0CA8, ATP8A2
2MP:00053788.8CA8, VLDLR, ATP8A2
3MP:00053868.7CA8, VLDLR, ATP8A2

Publications for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Variations for Cerebellar Hypoplasia and Mental Retardation with or Without...

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1VLDLRNG_012741.1: g.(?_5001)_(37693_?)deldeletionPathogenic/card/cerebellar_hypoplasia_and_mental_retardation_with_or_without_quadrupedal_locomotion_1
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 Cerebellar Hypoplasia and Mental Retardation with or Without...

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1

Search GEO for disease gene expression data for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1.

Pathways for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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Compounds for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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GO Terms for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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Products for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebellar Hypoplasia and Mental Retardation with or Without...

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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