MCID: CRB045
MIFTS: 40

Cerebellar Hypoplasia malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Cerebellar Hypoplasia

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Aliases & Descriptions for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 45 22 46 47

Characteristics:



Classifications:



Summaries for Cerebellar Hypoplasia

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NIH Rare Diseases:45 Cerebellar hypoplasia 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. cerebellar hypoplasia may range from mild or partial underdevelopment to complete absence (agenesis). it may affect only 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: 10/26/2015

MalaCards based summary: Cerebellar Hypoplasia is related to cerebellar hypoplasia tapetoretinal degeneration and mental retardation and microcephaly with pontine and cerebellar hypoplasia, and has symptoms including cognitive impairment, abnormality of retinal pigmentation and aplasia/hypoplasia of the cerebellum. An important gene associated with Cerebellar Hypoplasia is OPHN1 (Oligophrenin 1), and among its related pathways are Guidance Cues and Growth Cone Motility and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include cerebellum, brain and eye, and related mouse phenotypes are integument and growth/size/body region.

NINDS:46 Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.

Wikipedia:68 Cerebellar hypoplasia is a heterogeneous group of disorder of cerebellar maldevelopment presenting as... more...

Related Diseases for Cerebellar Hypoplasia

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

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar hypoplasia tapetoretinal degeneration28.9CASK, DKC1, OPHN1, PI4KA, RELN, VLDLR
2mental retardation and microcephaly with pontine and cerebellar hypoplasia12.3
3cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 112.2
4mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance12.2
5lissencephaly with cerebellar hypoplasia12.1
6lissencephaly 7 with cerebellar hypoplasia12.1
7polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis12.1
8microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome12.0
9cerebellar hypoplasia with endosteal sclerosis11.9
10porencephaly cerebellar hypoplasia internal malformations11.9
11cerebral calcification cerebellar hypoplasia11.9
12thrombocytopenia cerebellar hypoplasia short stature11.9
13x-linked intellectual disability-cerebellar hypoplasia syndrome11.9
14isolated cerebellar hypoplasia/agenesis11.9
15isolated bilateral hemispheric cerebellar hypoplasia11.9
16isolated unilateral hemispheric cerebellar hypoplasia11.9
17lissencephaly with cerebellar hypoplasia type f11.9
18lissencephaly with cerebellar hypoplasia type e11.9
19lissencephaly with cerebellar hypoplasia type b11.9
20lissencephaly with cerebellar hypoplasia type a11.9
21lissencephaly with cerebellar hypoplasia type d11.9
22lissencephaly with cerebellar hypoplasia type c11.9
23dyskeratosis congenita11.4
24dyskeratosis congenita, x-linked11.4
25x-linked intellectual disability, najm type11.2
26spinocerebellar ataxia, autosomal recessive 211.0
27lissencephaly 210.9
28pancreatic and cerebellar agenesis10.9
29jung wolff back stahl syndrome10.9
30intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome10.9
31lissencephaly10.3
32microcephaly10.2
33hydranencephaly10.2
34ataxia10.1
35pancytopenia10.0
36cerebritis10.0
37cataract10.0
38hydrocephalus10.0
39lymphocytic choriomeningitis10.0
40neu-laxova syndrome110.0
41muscular dystrophy-dystroglycanopathy , type b, 1410.0
42coach syndrome10.0
43revesz syndrome10.0
44cerebellofaciodental syndrome10.0
45congenital disorder of glycosylation, type ia10.0
46dyskeratosis congenita, autosomal recessive 510.0
47osteogenesis imperfecta9.9
48diarrhea9.9
49pachygyria9.9
50hydrocephalus, nonsyndromic, autosomal recessive 29.9VLDLR, WDR81

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



Diseases related to cerebellar hypoplasia

Symptoms for Cerebellar Hypoplasia

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HPO human phenotypes related to Cerebellar Hypoplasia:

(show all 14)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 abnormality of retinal pigmentation hallmark (90%) HP:0007703
3 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
4 incoordination hallmark (90%) HP:0002311
5 muscular hypotonia hallmark (90%) HP:0001252
6 optic atrophy hallmark (90%) HP:0000648
7 nystagmus hallmark (90%) HP:0000639
8 abnormal electroretinogram hallmark (90%) HP:0000512
9 visual impairment hallmark (90%) HP:0000505
10 tremor HP:0001337
11 cerebellar hypoplasia HP:0001321
12 muscular hypotonia HP:0001252
13 ataxia HP:0001251
14 nystagmus HP:0000639

Drugs & Therapeutics for Cerebellar Hypoplasia

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Drugs for Cerebellar Hypoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3572

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
2Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224

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 Hypoplasia22

Anatomical Context for Cerebellar Hypoplasia

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MalaCards organs/tissues related to Cerebellar Hypoplasia:

33
Cerebellum, Brain, Eye, Prostate, Endothelial, Pituitary, Skin

Animal Models for Cerebellar Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3DKC1, OPHN1, PI4KA, RELN
2MP:00053787.3CASK, DKC1, OPHN1, PI4KA, RELN, VLDLR
3MP:00107687.0CASK, DKC1, OPHN1, PI4KA, RELN, VLDLR

Publications for Cerebellar Hypoplasia

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Articles related to Cerebellar Hypoplasia:

(show top 50)    (show all 248)
idTitleAuthorsYear
1
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. (26970947)
2016
2
Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons. (24599700)
2014
3
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. (25452764)
2014
4
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. (24839100)
2014
5
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. (24989451)
2014
6
Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia. (26331030)
2014
7
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. (23564332)
2013
8
Identification of feline panleukopenia virus proteins expressed in Purkinje cell nuclei of cats with cerebellar hypoplasia. (23159676)
2013
9
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: a note of doubt. (23345526)
2013
10
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. (22633752)
2013
11
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion. (21826524)
2011
12
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. (19901254)
2009
13
Cerebellar hypoplasia, continuous spike-waves during sleep, and neuropsychological and behavioral disorders. (19073855)
2008
14
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. (16801186)
2006
15
Autosomal recessive cerebellar hypoplasia in the Hutterite population. (16174313)
2005
16
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. (16053913)
2005
17
A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta. (15181228)
2004
18
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (15103730)
2004
19
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. (12805098)
2003
20
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. (12687674)
2003
21
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
22
A fatal case of cerebellar hypoplasia associated with anterior horn cell disease. (12872823)
2003
23
Epilepsy, intelligence, and psychiatric disorders in patients with cerebellar hypoplasia. (12661930)
2003
24
Polymerase chain reaction (PCR) amplification of parvoviral DNA from the brains of dogs and cats with cerebellar hypoplasia. (12892305)
2003
25
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (12207929)
2002
26
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. (11748497)
2001
27
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (10973257)
2000
28
Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. (10700701)
2000
29
A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia. (10699141)
2000
30
Hydranencephaly and cerebellar hypoplasia in two kittens attributed to intrauterine parvovirus infection. (10373292)
1999
31
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? (10514106)
1999
32
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. (9566649)
1998
33
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. (7607282)
1995
34
Neurochemical and histological analysis of motor dysfunction observed in rats with methylnitrosourea-induced experimental cerebellar hypoplasia. (1377791)
1992
35
Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. (1622524)
1992
36
Hereditary cerebellar hypoplasia. (2002208)
1991
37
Severity of cerebellar hypoplasia is predictable from total plasma bilirubin level at 3 to 7 days of age in jaundiced Gunn rats. (2709808)
1989
38
Cerebellar hypoplasia in the Gunn rat is associated with quantitative changes in neurotypic and gliotypic proteins. (2410596)
1985
39
Accumulation of cholesteryl esters associated with cerebellar hypoplasia in jaundiced Gunn rats. (6617810)
1983
40
Cerebellar hypoplasia in beef shorthorn calves. (7159314)
1982
41
Cerebellar hypoplasia in the Gunn rat with hereditary hyperbilirubinemia: immunohistochemical and neurochemical studies. (6255097)
1980
42
Human cerebellar hypoplasia: a syndrome of diverse causes. (7387451)
1980
43
Wesselsbron disease: a cause of congenital porencephaly and cerebellar hypoplasia in calves. (551364)
1979
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
Cerebellar hypoplasia and degeneration in a foal. (5950937)
1966
49
Congenital cerebellar hypoplasia in a Holstein-Friesian calf. (14794543)
1950
50

Variations for Cerebellar Hypoplasia

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Expression for genes affiliated with Cerebellar Hypoplasia

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Search GEO for disease gene expression data for Cerebellar Hypoplasia.

Pathways for genes affiliated with Cerebellar Hypoplasia

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Pathways related to Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5RELN, VLDLR
29.5RELN, VLDLR
39.5RELN, VLDLR
49.5RELN, VLDLR

GO Terms for genes affiliated with Cerebellar Hypoplasia

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Biological processes related to Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nervous system developmentGO:00073999.6OPHN1, VLDLR
2cerebral cortex developmentGO:00219879.5RELN, VLDLR

Sources for Cerebellar Hypoplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet