MCID: CRB045
MIFTS: 40

Cerebellar Hypoplasia malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Cerebellar Hypoplasia

About this section

Aliases & Descriptions for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 45 22 46 47


Classifications:



Summaries for Cerebellar Hypoplasia

About this section
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 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, and has symptoms including visual impairment, abnormal electroretinogram and nystagmus. An important gene associated with Cerebellar Hypoplasia is OPHN1 (Oligophrenin 1), 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 cellular and behavior/neurological.

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 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 215)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar hypoplasia tapetoretinal degeneration28.9CASK, DCX, DKC1, OPHN1, PAFAH1B1, RELN
2cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.7
3lissencephaly with cerebellar hypoplasia10.6
4lissencephaly10.6
5mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance10.5
6mental retardation and microcephaly with pontine and cerebellar hypoplasia10.5
7hydranencephaly10.4
8microcephaly10.4
9lissencephaly 7 with cerebellar hypoplasia10.4
10porencephaly cerebellar hypoplasia internal malformations10.4
11polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis10.4
12cerebellar hypoplasia with endosteal sclerosis10.4
13ataxia10.4
14dyskeratosis congenita, x-linked10.3
15pancytopenia10.3
16cerebritis10.3
17x-linked intellectual disability, najm type10.3
18cataract10.3
19dyskeratosis congenita10.3
20lymphocytic choriomeningitis10.3
21cerebral calcification cerebellar hypoplasia10.3
22thrombocytopenia cerebellar hypoplasia short stature10.3
23x-linked intellectual disability - cerebellar hypoplasia10.3
24microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome10.3
25neu-laxova syndrome110.2
26muscular dystrophy-dystroglycanopathy , type b, 1410.2
27cerebellofaciodental syndrome10.2
28dyskeratosis congenita, autosomal recessive 510.2
29hydrocephalus10.2
30osteogenesis imperfecta10.2
31diarrhea10.2
32pachygyria10.2
33isolated cerebellar hypoplasia/agenesis10.2
34isolated bilateral hemispheric cerebellar hypoplasia10.2
35isolated unilateral hemispheric cerebellar hypoplasia10.2
36lissencephaly with cerebellar hypoplasia type f10.2
37lissencephaly with cerebellar hypoplasia type e10.2
38lissencephaly with cerebellar hypoplasia type b10.2
39lissencephaly with cerebellar hypoplasia type a10.2
40lissencephaly with cerebellar hypoplasia type d10.2
41lissencephaly with cerebellar hypoplasia type c10.2
42muscular dystrophy-dystroglycanopathy , type a, 1410.1
43dyskeratosis congenita, autosomal dominant 110.1
44coach syndrome10.1
45cortical dysplasia, complex, with other brain malformations 610.1
46cohen syndrome10.1
47spinocerebellar ataxia, autosomal recessive 210.1
48revesz syndrome10.1
49pontocerebellar hypoplasia type 1a10.1
50congenital disorder of glycosylation, type ia10.1

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



Diseases related to cerebellar hypoplasia

Symptoms for Cerebellar Hypoplasia

About this section

HPO human phenotypes related to Cerebellar Hypoplasia:

(show all 15)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 nystagmus hallmark (90%) HP:0000639
4 optic atrophy hallmark (90%) HP:0000648
5 muscular hypotonia hallmark (90%) HP:0001252
6 incoordination hallmark (90%) HP:0002311
7 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
8 abnormality of retinal pigmentation hallmark (90%) HP:0007703
9 cognitive impairment hallmark (90%) HP:0100543
10 autosomal recessive inheritance HP:0000007
11 nystagmus HP:0000639
12 ataxia HP:0001251
13 muscular hypotonia HP:0001252
14 cerebellar hypoplasia HP:0001321
15 tremor HP:0001337

Drugs & Therapeutics for Cerebellar Hypoplasia

About this section

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

About this section

Genetic tests related to Cerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Cerebellar Hypoplasia22

Anatomical Context for Cerebellar Hypoplasia

About this section

MalaCards organs/tissues related to Cerebellar Hypoplasia:

33
Cerebellum, Eye, Thyroid, Brain, Heart, Tongue, Fetal brain

Animal Models for Cerebellar Hypoplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.9CASK, DKC1, PAFAH1B1, RELN, VLDLR
2MP:00053867.7DCX, OPHN1, PAFAH1B1, RELN, VLDLR
3MP:00053787.2CASK, DCX, DKC1, PAFAH1B1, RELN, VLDLR
4MP:00036317.1CASK, DCX, OPHN1, PAFAH1B1, RELN, VLDLR
5MP:00107686.9CASK, DCX, DKC1, OPHN1, PAFAH1B1, RELN

Publications for Cerebellar Hypoplasia

About this section

Articles related to Cerebellar Hypoplasia:

(show top 50)    (show all 239)
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
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
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
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. (9566649)
1998
32
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. (7607282)
1995
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
19.5RELN, VLDLR
28.7PAFAH1B1, RELN, VLDLR
38.3CASK, DCX, OPHN1, PAFAH1B1
48.2DCX, PAFAH1B1, 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
1microtubule associated complexGO:00058759.5DCX, PAFAH1B1
2vesicleGO:00319829.3CASK, PAFAH1B1
3dendriteGO:00304259.1DCX, OPHN1, RELN

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1ventral spinal cord developmentGO:002151710.0RELN, VLDLR
2reelin-mediated signaling pathwayGO:003802610.0RELN, VLDLR
3positive regulation of protein kinase activityGO:00458609.9RELN, VLDLR
4dendrite morphogenesisGO:00488139.8DCX, VLDLR
5positive regulation of dendritic spine morphogenesisGO:00610039.6PAFAH1B1, RELN
6layer formation in cerebral cortexGO:00218199.6PAFAH1B1, RELN
7hippocampus developmentGO:00217669.5PAFAH1B1, RELN
8nervous system developmentGO:00073999.3DCX, OPHN1, VLDLR
9axon guidanceGO:00074119.1DCX, OPHN1, RELN
10neuron migrationGO:00017649.0DCX, PAFAH1B1, RELN
11cerebral cortex developmentGO:00219878.7PAFAH1B1, RELN, VLDLR
12brain developmentGO:00074208.3DCX, PAFAH1B1, RELN

Sources for Cerebellar Hypoplasia

About this section
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