MCID: CRB106
MIFTS: 24

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

Neuronal category

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

Sources:
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 dysequilibrium syndrome and vldlr-associated cerebellar hypoplasia, and has symptoms including abnormal gait, ataxia/incoordination/trouble of the equilibrium and hypotonia. An important gene associated with Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 is VLDLR (very low density lipoprotein receptor). Related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

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

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

Sources:
49Orphanet, 61UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


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 61
cerebellar ataxia - intellectual deficit - dysequilibrium syndrome 49
non-progressive cerebellar ataxia - intellectual deficit 49
camrq syndrome 49


External Ids:

MESH via Orphanet36 C535731
ICD10 via Orphanet26 G11.8
SNOMED-CT via Orphanet58 230782004
UMLS via Orphanet62 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
1dysequilibrium syndrome10.7
2vldlr-associated cerebellar hypoplasia10.3
3cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.3
4cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.3
5n syndrome10.2
6mental retardation10.2
7ataxia10.2
8myoclonus10.0
9cerebellar ataxia and mental retardation with or without quadrupedal locomotion 310.0
10diethylstilbestrol syndrome10.0
11cerebellar hypoplasia10.0VLDLR
12cerebellar ataxia10.0WDR81

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...

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

224050,610185,613227,615268

Clinical synopsis from OMIM:

224050

Symptoms:

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

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

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

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

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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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:00053778.8ATP8A2, CA8
2MP:00053868.6VLDLR, ATP8A2, CA8

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

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

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

Sources:
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...

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

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

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

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet