MCID: CRB045
MIFTS: 29

Cerebellar Hypoplasia malady

Summaries for Cerebellar Hypoplasia

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42NIH Rare Diseases, 43NINDS, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Cerebellar hypoplasia (ch) is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. it may occur with a variety of congenital syndromes, metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has. the most common findings are developmental and speech delay, poor muscle tone (hypotonia), ataxia and abnormal ocular (eye) movements. ch may range from mild or partial underdevelopment to complete absence (agenesis). it can be confined to the cerebellum, or also affect other central nervous system structures. the inheritance pattern may differ depending on the underlying cause of the condition. treatment is generally symptomatic and supportive and depends upon the underlying disorder and the severity of symptoms. last updated: 12/18/2012

MalaCards: Cerebellar Hypoplasia is related to lissencephaly and mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance. An important gene associated with Cerebellar Hypoplasia is VLDLR (very low density lipoprotein receptor), and among its related pathways are Reelin Pathway (Cajal-Retzius cells) and Reelin signaling pathway. Affiliated tissues include cerebellum, eye and thyroid, and related mouse phenotypes are reproductive system and nervous system.

NINDS:43 Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.

Wikipedia:63 Cerebellar hypoplasia is a rare embryonic developmental disorder in which the cerebellum is either... more...

Aliases & Classifications for Cerebellar Hypoplasia

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42NIH Rare Diseases, 20GeneTests, 43NINDS, 44Novoseek
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Aliases & Descriptions:

cerebellar hypoplasia 42 20 43 44


Related Diseases for Cerebellar Hypoplasia

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17GeneCards, 18GeneDecks
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Diseases related to Cerebellar Hypoplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly30.7ARX, DCX, VLDLR, RELN, PAFAH1B1
2mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance30.6OPHN1, HN1
3microcephaly30.6PAFAH1B1, CASK
4cerebellar ataxia30.4WDR81
5epilepsy syndrome30.1PAFAH1B1, RELN, DCX, ARX, OPHN1
6periventricular nodular heterotopia29.8DCX, RELN, PAFAH1B1
7congenital disorder of glycosylation type 1a29.8TF, PMM2
8congenital disorder of glycosylation29.8TF, PMM2
9dysequilibrium syndrome10.6
10lissencephaly with cerebellar hypoplasia10.5
11hydranencephaly10.4
12cerebellar disease10.4
13porencephaly cerebellar hypoplasia internal malformations10.3
14cerebritis10.3
15pancytopenia10.3
16mental retardation and microcephaly with pontine and cerebellar hypoplasia10.3
17microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome10.3
18lymphocytic choriomeningitis10.2
19cataract10.2
20hydrocephalus10.2
21cerebellar hypoplasia tapetoretinal degeneration10.2
22cerebellar hypoplasia with endosteal sclerosis10.2
23dyskeratosis congenita10.2
24osteogenesis imperfecta10.2
25diarrhea10.2
26cerebral calcification cerebellar hypoplasia10.2
27thrombocytopenia cerebellar hypoplasia short stature10.2
28cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.2
29communicating hydrocephalus10.1
30congenital heart defect10.1
31congenital muscular dystrophy10.1
32hemangioma10.1
33hypogonadism10.1
34muscular dystrophy10.1
35retinitis10.1
36vldlr-associated cerebellar hypoplasia10.1
37dyskeratosis congenita x-linked10.1
38intellectual disability and microcephaly with pontine and cerebellar hypoplasia10.1
39isolated cerebellar hypoplasia/agenesis10.1
40isolated bilateral hemispheric cerebellar hypoplasia10.1
41isolated unilateral hemispheric cerebellar hypoplasia10.1
42lissencephaly with cerebellar hypoplasia type f10.1
43lissencephaly with cerebellar hypoplasia type e10.1
44lissencephaly with cerebellar hypoplasia type b10.1
45lissencephaly with cerebellar hypoplasia type a10.1
46lissencephaly with cerebellar hypoplasia type d10.1
47lissencephaly with cerebellar hypoplasia type c10.1
48strabismus10.0OPHN1
49lissencephaly 110.0DCX, RELN, PAFAH1B1
50lissencephaly x-linked10.0PAFAH1B1, DCX, ARX

Graphical network of the top 20 diseases related to Cerebellar Hypoplasia:



Diseases related to cerebellar hypoplasia

Clinical Features for Cerebellar Hypoplasia

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Drugs & Therapeutics for Cerebellar Hypoplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Cerebellar Hypoplasia

Search CenterWatch for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

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20GeneTests
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Genetic tests related to Cerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Cerebellar Hypoplasia20

Anatomical Context for Cerebellar Hypoplasia

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32MalaCards
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MalaCards organs/tissues related to Cerebellar Hypoplasia:

32
Cerebellum, Eye, Thyroid

Animal Models for Cerebellar Hypoplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.4DCX, DKC1, RELN, PAFAH1B1, EN1, EN2
2MP:00036318.6PMM2, OPHN1, ARX, DCX, VLDLR, RELN
3MP:00053848.6DKC1, PMM2, PTF1A, LAMB2, PAFAH1B1, WNT1
4MP:00053868.6WNT1, OPHN1, EN2, EN1, PTF1A, LAMB2
5MP:00053788.5DCX, CASK, PTF1A, LAMB2, PAFAH1B1, ARX
6MP:00107688.4LAMB2, PTF1A, PAFAH1B1, WNT1, RELN, DKC1

Publications for Cerebellar Hypoplasia

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Genetic Variations for Cerebellar Hypoplasia

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Expression for genes affiliated with Cerebellar Hypoplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebellar Hypoplasia

Search GEO for disease gene expression data for Cerebellar Hypoplasia.

Pathways for genes affiliated with Cerebellar Hypoplasia

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51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 4Cell Signaling Technology
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Pathways related to Cerebellar Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1WNT1, RELN, VLDLR
210.1PAFAH1B1, RELN, VLDLR
3
Hide members
10.1LAMB2, RELN, CASK
410.0CASK, OPHN1, DCX, PAFAH1B1
510.0PAFAH1B1, RELN, VLDLR, DCX

Compounds for genes affiliated with Cerebellar Hypoplasia

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GO Terms for genes affiliated with Cerebellar Hypoplasia

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16Gene Ontology
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Cellular components related to Cerebellar Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule associated complexGO:00587510.2PAFAH1B1, DCX

Biological processes related to Cerebellar Hypoplasia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ventral spinal cord developmentGO:02151710.2RELN, VLDLR
2cerebral cortex tangential migrationGO:02180010.1RELN, ARX
3hindbrain developmentGO:03090210.1EN2, EN1, PTF1A
4midbrain developmentGO:03090110.0EN2, EN1, WNT1
5neuron migrationGO:00176410.0ARX, DCX, RELN, PAFAH1B1
6reelin-mediated signaling pathwayGO:0380269.9RELN, VLDLR
7axon guidanceGO:0074119.8OPHN1, ARX, DCX, RELN, LAMB2

Products for genes affiliated with Cerebellar Hypoplasia

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Sources for 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet