MCID: CRB106
MIFTS: 28

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

Neuronal diseases category

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

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46OMIM, 32MalaCards
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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 cataract/lens opacification, anomalies of eyes and vision and short stature/dwarfism/nanism. 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 behavior/neurological.

Description from OMIM:46 224050,610185,613227,615268

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

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48Orphanet, 60UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
dysequilibrium syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 46
dysequilibrium syndrome 48 60
cerebellar ataxia - intellectual deficit - dysequilibrium syndrome 48
non-progressive cerebellar ataxia - intellectual deficit 48
camrq syndrome 48


External Ids:

MESH via Orphanet35 C535731
ICD10 via Orphanet26 G11.8
SNOMED-CT via Orphanet57 230782004
UMLS via Orphanet61 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:

idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia30.2WDR81
2dysequilibrium syndrome10.4
3vldlr-associated cerebellar hypoplasia10.3
4cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.3
5cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.3
6cerebritis10.0
7cerebral palsy10.0
8cerebellar ataxia and mental retardation with or without quadrupedal locomotion 310.0
9diethylstilbestrol syndrome10.0
10cerebellar hypoplasia10.0VLDLR

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

Clinical Features for Cerebellar Hypoplasia and Mental Retardation with or Without...

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46OMIM, 48Orphanet
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Clinical features from OMIM:

224050,610185,613227,615268

Clinical synopsis from OMIM:

224050

Symptoms:

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

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

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

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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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32MalaCards
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MalaCards organs/tissues related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

32
Eye

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

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36MGI
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MGI Mouse Phenotypes related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8ATP8A2, CA8
2MP:00053868.6VLDLR, ATP8A2, CA8

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

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

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

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1BioGPS, 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
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  • Antibodies

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

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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