MCID: CRB045
MIFTS: 40

Cerebellar Hypoplasia malady

Genetic diseases, Rare diseases categories
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Summaries for Cerebellar Hypoplasia

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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 based summary: Cerebellar Hypoplasia is related to lissencephaly and mental retardation. An important gene associated with Cerebellar Hypoplasia is VLDLR (very low density lipoprotein receptor), and among its related pathways are Guidance Cues and Growth Cone Motility and Lissencephaly gene (LIS1) in neuronal migration and development. The compound tyrosine have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, eye and thyroid, and related mouse phenotypes are cellular and behavior/neurological.

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

Wikipedia:65 Cerebellar hypoplasia is a rare embryonic developmental disorder in which the cerebellum is either... more...

Aliases & Classifications for Cerebellar Hypoplasia

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Cerebellar Hypoplasia, Aliases & Descriptions:

Name: Cerebellar Hypoplasia 42 20 43 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Cerebellar Hypoplasia

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

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly30.5ARX, RELN, VLDLR
2mental retardation30.1RELN, CASK, OPHN1, ARX
3dysequilibrium syndrome10.6
4lissencephaly with cerebellar hypoplasia10.6
5hydranencephaly10.4
6microcephaly10.4
7mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance10.4
8porencephaly cerebellar hypoplasia internal malformations10.4
9mental retardation and microcephaly with pontine and cerebellar hypoplasia10.4
10pancytopenia10.3
11cerebellar hypoplasia with endosteal sclerosis10.3
12ataxia10.3
13microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome10.3
14cataract10.3
15hydrocephalus10.3
16dyskeratosis congenita10.3
17lymphocytic choriomeningitis10.3
18cerebritis10.3
19vldlr-associated cerebellar hypoplasia10.3
20cerebellar hypoplasia tapetoretinal degeneration10.3
21osteogenesis imperfecta10.2
22diarrhea10.2
23cerebral calcification cerebellar hypoplasia10.2
24pachygyria10.2
25thrombocytopenia cerebellar hypoplasia short stature10.2
26short stature10.2
27cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.2
28hemangioma10.1
29neuronitis10.1
30communicating hydrocephalus10.1
31congenital muscular dystrophy10.1
32hypogonadism10.1
33muscular dystrophy10.1
34retinitis10.1
35dyskeratosis congenita x-linked10.1
36porencephaly10.1
37intellectual disability and microcephaly with pontine and cerebellar hypoplasia10.1
38tremor10.1
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
48alopecia10.0
49diabetes mellitus10.0
50holoprosencephaly10.0

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



Diseases related to cerebellar hypoplasia

Symptoms for Cerebellar Hypoplasia

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Drugs & Therapeutics for Cerebellar Hypoplasia

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Drug clinical trials:

Search ClinicalTrials for Cerebellar Hypoplasia

Search NIH Clinical Center for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

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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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MalaCards organs/tissues related to Cerebellar Hypoplasia:

32
Cerebellum, Eye, Thyroid, Brain, Heart, Fetal brain, Tongue

Animal Models for Cerebellar Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.6ARX, VLDLR, RELN, WNT1, CASK
2MP:00053867.3ARX, VLDLR, RELN, WNT1, OPHN1
3MP:00036317.1VLDLR, RELN, WNT1, CASK, OPHN1, ARX
4MP:00107687.0ARX, OPHN1, CASK, WNT1, RELN, VLDLR

Publications for Cerebellar Hypoplasia

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Articles related to Cerebellar Hypoplasia:

(show top 50)    (show all 228)
idTitleAuthorsYear
1
Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons. (24599700)
2014
2
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. (24839100)
2014
3
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. (24989451)
2014
4
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. (23564332)
2013
5
Identification of feline panleukopenia virus proteins expressed in Purkinje cell nuclei of cats with cerebellar hypoplasia. (23159676)
2013
6
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: a note of doubt. (23345526)
2013
7
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. (22633752)
2013
8
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion. (21826524)
2011
9
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. (19901254)
2009
10
Cerebellar hypoplasia, continuous spike-waves during sleep, and neuropsychological and behavioral disorders. (19073855)
2008
11
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. (16801186)
2006
12
Autosomal recessive cerebellar hypoplasia in the Hutterite population. (16174313)
2005
13
A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta. (15181228)
2004
14
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (15103730)
2004
15
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. (12805098)
2003
16
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. (12687674)
2003
17
Cerebellar hypoplasia with heterotopic purkinje cells in the molecular layer and preservation of the granule layers associated with severe encephalopathy. A new entity? (12910442)
2003
18
A fatal case of cerebellar hypoplasia associated with anterior horn cell disease. (12872823)
2003
19
Epilepsy, intelligence, and psychiatric disorders in patients with cerebellar hypoplasia. (12661930)
2003
20
Polymerase chain reaction (PCR) amplification of parvoviral DNA from the brains of dogs and cats with cerebellar hypoplasia. (12892305)
2003
21
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (12207929)
2002
22
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. (11748497)
2001
23
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (10973257)
2000
24
Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. (10700701)
2000
25
A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia. (10699141)
2000
26
Hydranencephaly and cerebellar hypoplasia in two kittens attributed to intrauterine parvovirus infection. (10373292)
1999
27
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? (10514106)
1999
28
Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. (10598835)
1999
29
Familial lissencephaly with cleft palate and severe cerebellar hypoplasia. (10594886)
1999
30
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. (9566649)
1998
31
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. (7607282)
1995
32
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. (7682675)
1993
33
Neurochemical and histological analysis of motor dysfunction observed in rats with methylnitrosourea-induced experimental cerebellar hypoplasia. (1377791)
1992
34
Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. (1622524)
1992
35
Hereditary cerebellar hypoplasia. (2002208)
1991
36
Severity of cerebellar hypoplasia is predictable from total plasma bilirubin level at 3 to 7 days of age in jaundiced Gunn rats. (2709808)
1989
37
Cerebellar hypoplasia in the Gunn rat is associated with quantitative changes in neurotypic and gliotypic proteins. (2410596)
1985
38
Accumulation of cholesteryl esters associated with cerebellar hypoplasia in jaundiced Gunn rats. (6617810)
1983
39
Cerebellar hypoplasia in beef shorthorn calves. (7159314)
1982
40
Cerebellar hypoplasia in the Gunn rat with hereditary hyperbilirubinemia: immunohistochemical and neurochemical studies. (6255097)
1980
41
Human cerebellar hypoplasia: a syndrome of diverse causes. (7387451)
1980
42
Wesselsbron disease: a cause of congenital porencephaly and cerebellar hypoplasia in calves. (551364)
1979
43
Congenital ataxia and tremor with cerebellar hypoplasia in piglets borne by sows treated with Neguvon vet. (metrifonate, trichlorfon) during pregnancy. (733482)
1978
44
The pathogenesis of parvovirus-induced cerebellar hypoplasia in the Syrian hamster, Mesocricetus auratus. Fluorescent antibody, foliation, cytoarchitectonic, Golgi and electron microscopic studies. (789416)
1976
45
Cerebellar hypoplasia in Werdnig-Hoffmann disease. (1158057)
1975
46
Pathogenesis of cerebellar hypoplasia produced by lymphocytic choriomeningitis virus infection of neonatal rats. 1. Evolution of disease following infection at 4 days of age. (4568304)
1973
47
Cerebellar hypoplasia in neonatal rats caused by lymphocytic choriomeningitis virus. (4992415)
1971
48
Epidemiological observations on bovine viral diarrhea-mucosal disease virus-induced congenital cerebellar hypoplasia and ocular defects in calves. (4986633)
1970
49
Cerebellar hypoplasia and degeneration in a foal. (5950937)
1966
50
Congenital cerebellar hypoplasia in a Holstein-Friesian calf. (14794543)
1950

Variations for Cerebellar Hypoplasia

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Expression for genes affiliated with Cerebellar Hypoplasia

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Expression patterns in normal tissues for genes affiliated with Cerebellar Hypoplasia

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Pathways for genes affiliated with Cerebellar Hypoplasia

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Pathways related to Cerebellar Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4RELN, VLDLR
29.4RELN, VLDLR
39.4RELN, VLDLR
48.6WNT1, RELN, VLDLR

Compounds for genes affiliated with Cerebellar Hypoplasia

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Compounds related to Cerebellar Hypoplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine448.1CASK, WNT1, RELN, VLDLR

GO Terms for genes affiliated with Cerebellar Hypoplasia

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Cellular components related to Cerebellar Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin cytoskeletonGO:0156299.2OPHN1, CASK
2proteinaceous extracellular matrixGO:0055789.0WNT1, RELN

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

idNameGO IDScoreTop Affiliating Genes
1reelin-mediated signaling pathwayGO:0380269.5RELN, VLDLR
2ventral spinal cord developmentGO:0215179.4RELN, VLDLR
3cerebral cortex tangential migrationGO:0218009.4ARX, RELN
4neuron migrationGO:0017649.3ARX, RELN
5positive regulation of protein kinase activityGO:0458609.1RELN, VLDLR
6axon guidanceGO:0074118.8RELN, OPHN1, ARX

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet