MCID: CRB045
MIFTS: 44

Cerebellar Hypoplasia malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Cerebellar Hypoplasia

About this section
Sources:
41NIH Rare Diseases, 20GeneTests, 42NINDS, 43Novoseek, 47Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Cerebellar Hypoplasia, Aliases & Descriptions:

Name: Cerebellar Hypoplasia 41 20 42 43
 
Isolated Cerebellar Hypoplasia/agenesis 41 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47

External Ids:

Orphanet47 1398
ICD10 via Orphanet26 Q04.3
UMLS via Orphanet61 C0266470, C0344488

Summaries for Cerebellar Hypoplasia

About this section


NIH Rare Diseases:41 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, also known as isolated cerebellar hypoplasia/agenesis, is related to lissencephaly and mental retardation, and has symptoms including abnormality of eye movement, muscular hypotonia and incoordination. 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:42 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...

Related Diseases for Cerebellar Hypoplasia

About this section

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

(show top 50)    (show all 184)
idRelated DiseaseScoreTop Affiliating Genes
1lissencephaly30.6ARX, RELN, VLDLR
2mental retardation30.0RELN, CASK, OPHN1, ARX
3cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.7
4mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance10.5
5langerhans-cell histiocytosis10.4
6mental retardation and microcephaly with pontine and cerebellar hypoplasia10.4
7microcephaly10.4
8hydranencephaly10.4
9cerebellar hypoplasia with endosteal sclerosis10.4
10escobar syndrome10.3
11ataxia10.3
12dyskeratosis congenita10.3
13cerebritis10.3
14cerebellar hypoplasia tapetoretinal degeneration10.3
15cataract10.2
16hydrocephalus10.2
17lymphocytic choriomeningitis10.2
18pancytopenia10.2
19cerebral calcification cerebellar hypoplasia10.2
20pachygyria, frontotemporal10.2
21thrombocytopenia cerebellar hypoplasia short stature10.2
22osteogenesis imperfecta10.2
23diarrhea10.2
24pachygyria10.2
25intellectual disability and microcephaly with pontine and cerebellar hypoplasia10.2
26x-linked intellectual disability - cerebellar hypoplasia10.2
27isolated bilateral hemispheric cerebellar hypoplasia10.2
28isolated unilateral hemispheric cerebellar hypoplasia10.2
29lissencephaly with cerebellar hypoplasia type f10.2
30lissencephaly with cerebellar hypoplasia type e10.2
31lissencephaly with cerebellar hypoplasia type b10.2
32lissencephaly with cerebellar hypoplasia type a10.2
33lissencephaly with cerebellar hypoplasia type d10.2
34lissencephaly with cerebellar hypoplasia type c10.2
35muscular dystrophy-dystroglycanopathy , type b, 1410.1
36cohen syndrome10.1
37spinocerebellar ataxia, autosomal recessive 210.1
38revesz syndrome10.1
39dyskeratosis congenita, x-linked10.1
40neu-laxova syndrome110.1
41dyskeratosis congenita, autosomal dominant 110.1
42pontocerebellar hypoplasia type 1a10.1
43neurofibromatosis, type 110.1
44pontocerebellar hypoplasia type 2a10.1
45pontocerebellar hypoplasia type 410.1
46dyskeratosis congenita, autosomal recessive 510.1
47hemangioma10.1
48neurofibromatosis10.1
49neuronitis10.1
50porencephaly10.1

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



Diseases related to cerebellar hypoplasia

Symptoms for Cerebellar Hypoplasia

About this section

Symptoms:

 47 (show all 10)
  • abnormal eye movements/oculomotor disorder
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • microcephaly
  • movement disorder
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/behavioural troubles

HPO human phenotypes related to Cerebellar Hypoplasia:

(show all 16)
id Description Frequency HPO Source Accession
1 abnormality of eye movement hallmark (90%) HP:0000496
2 muscular hypotonia hallmark (90%) HP:0001252
3 incoordination hallmark (90%) HP:0002311
4 microcephaly typical (50%) HP:0000252
5 macrocephaly typical (50%) HP:0000256
6 behavioral abnormality typical (50%) HP:0000708
7 seizures typical (50%) HP:0001250
8 hypertonia typical (50%) HP:0001276
9 neurological speech impairment typical (50%) HP:0002167
10 abnormality of movement typical (50%) HP:0100022
11 autosomal recessive inheritance HP:0000007
12 nystagmus HP:0000639
13 ataxia HP:0001251
14 muscular hypotonia HP:0001252
15 cerebellar hypoplasia HP:0001321
16 tremor HP:0001337

Drugs & Therapeutics for Cerebellar Hypoplasia

About this section

Drug clinical trials:

Search ClinicalTrials for Cerebellar Hypoplasia

Search NIH Clinical Center for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

About this section

Genetic tests related to Cerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Cerebellar Hypoplasia20

Anatomical Context for Cerebellar Hypoplasia

About this section

MalaCards organs/tissues related to Cerebellar Hypoplasia:

31
Cerebellum, Eye, Thyroid, Brain, Heart, Fetal brain, Tongue

Animal Models for Cerebellar Hypoplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.6ARX, CASK, WNT1, RELN, VLDLR
2MP:00053867.3VLDLR, RELN, WNT1, OPHN1, ARX
3MP:00036317.1ARX, OPHN1, CASK, WNT1, RELN, VLDLR
4MP:00107687.0VLDLR, RELN, WNT1, CASK, OPHN1, ARX

Publications for Cerebellar Hypoplasia

About this section

Articles related to Cerebellar Hypoplasia:

(show top 50)    (show all 237)
idTitleAuthorsYear
1
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. (25609191)
2015
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
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. (23564332)
2013
7
Identification of feline panleukopenia virus proteins expressed in Purkinje cell nuclei of cats with cerebellar hypoplasia. (23159676)
2013
8
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: a note of doubt. (23345526)
2013
9
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. (22633752)
2013
10
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion. (21826524)
2011
11
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. (19901254)
2009
12
Cerebellar hypoplasia, continuous spike-waves during sleep, and neuropsychological and behavioral disorders. (19073855)
2008
13
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. (16801186)
2006
14
Autosomal recessive cerebellar hypoplasia in the Hutterite population. (16174313)
2005
15
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
16
A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta. (15181228)
2004
17
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (15103730)
2004
18
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. (12805098)
2003
19
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. (12687674)
2003
20
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
21
A fatal case of cerebellar hypoplasia associated with anterior horn cell disease. (12872823)
2003
22
Epilepsy, intelligence, and psychiatric disorders in patients with cerebellar hypoplasia. (12661930)
2003
23
Polymerase chain reaction (PCR) amplification of parvoviral DNA from the brains of dogs and cats with cerebellar hypoplasia. (12892305)
2003
24
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (12207929)
2002
25
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. (11748497)
2001
26
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (10973257)
2000
27
Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. (10700701)
2000
28
A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia. (10699141)
2000
29
Hydranencephaly and cerebellar hypoplasia in two kittens attributed to intrauterine parvovirus infection. (10373292)
1999
30
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? (10514106)
1999
31
Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. (10598835)
1999
32
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. (9566649)
1998
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

About this section

Expression for genes affiliated with Cerebellar Hypoplasia

About this section
Search GEO for disease gene expression data for Cerebellar Hypoplasia.

Pathways for genes affiliated with Cerebellar Hypoplasia

About this section

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

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

About this section
Sources:
43Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1tyrosine438.1CASK, WNT1, RELN, VLDLR

GO Terms for genes affiliated with Cerebellar Hypoplasia

About this section

Cellular components related to Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin cytoskeletonGO:00156299.2OPHN1, CASK
2proteinaceous extracellular matrixGO:00055789.0WNT1, RELN

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

idNameGO IDScoreTop Affiliating Genes
1reelin-mediated signaling pathwayGO:00380269.5RELN, VLDLR
2ventral spinal cord developmentGO:00215179.4RELN, VLDLR
3cerebral cortex tangential migrationGO:00218009.4ARX, RELN
4neuron migrationGO:00017649.3ARX, RELN
5positive regulation of protein kinase activityGO:00458609.1RELN, VLDLR
6axon guidanceGO:00074118.8RELN, OPHN1, ARX

Products for genes affiliated with Cerebellar Hypoplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cerebellar Hypoplasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet