MCID: CRB045
MIFTS: 38

Cerebellar Hypoplasia malady

Summaries for Cerebellar Hypoplasia

Sources:
43NIH Rare Diseases, 44NINDS, 64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 tongue, brain and kidney, and related mouse phenotypes are reproductive system and nervous system.

NINDS:44 Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.

Wikipedia:64 Cerebellar hypoplasia is a rare embryonic developmental disorder in which the cerebellum is either... more...

Aliases & Classifications for Cerebellar Hypoplasia

Sources:
43NIH Rare Diseases, 20GeneTests, 44NINDS, 45Novoseek
See all sources

Aliases & Descriptions:

cerebellar hypoplasia 43 20 44 45


Related Diseases for Cerebellar Hypoplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 109)
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
4mental retardation30.5CASK, OPHN1, ARX, DCX, RELN
5periventricular nodular heterotopia29.9DCX, RELN, PAFAH1B1
6congenital disorder of glycosylation type 1a29.9TF, PMM2
7dysequilibrium syndrome10.6
8lissencephaly with cerebellar hypoplasia10.5
9hydranencephaly10.4
10cerebellar degeneration10.4
11micro syndrome10.4
12porencephaly cerebellar hypoplasia internal malformations10.4
13cerebellar agenesis10.4
14pancytopenia10.3
15n syndrome10.3
16ataxia10.3
17mental retardation and microcephaly with pontine and cerebellar hypoplasia10.3
18microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome10.3
19lymphocytic choriomeningitis10.2
20corpus callosum agenesis10.2
21cerebellar hypoplasia tapetoretinal degeneration10.2
22cerebellar hypoplasia with endosteal sclerosis10.2
23cerebral calcification cerebellar hypoplasia10.2
24dyskeratosis congenita10.2
25osteogenesis imperfecta10.2
26pachygyria10.2
27thrombocytopenia cerebellar hypoplasia short stature10.2
28short stature10.2
29cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.2
30cataract, congenital10.2
31osteogenesis imperfecta type i10.1
32vldlr-associated cerebellar hypoplasia10.1
33short syndrome10.1
34dyskeratosis congenita x-linked10.1
35mental retardation epilepsy10.1
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
48cerebellar ataxia10.0WDR81
49strabismus10.0OPHN1
50lissencephaly 110.0DCX, RELN, PAFAH1B1

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



Diseases related to cerebellar hypoplasia

Clinical Features for Cerebellar Hypoplasia

Drugs & Therapeutics for Cerebellar Hypoplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Cerebellar Hypoplasia

Drug clinical trials:

Search ClinicalTrials for Cerebellar Hypoplasia

Search NIH Clinical Center for Cerebellar Hypoplasia

Search CenterWatch for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

Sources:
20GeneTests
See all sources

Genetic tests related to Cerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Cerebellar Hypoplasia20

Anatomical Context for Cerebellar Hypoplasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Cerebellar Hypoplasia:

33
Tongue, Brain, Kidney, Cerebellum, Heart, Thyroid, T cells, B cells, Fetal brain, Pituitary

Animal Models for Cerebellar Hypoplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Cerebellar Hypoplasia

Sources:
51PubMed
See all sources

Articles related to Cerebellar Hypoplasia:

(show top 50)    (show all 249)
idTitleAuthorsYear
1
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. (22633752)
2013
2
N-methyl-N-nitrosourea-induced cerebellar hypoplasia in rats: Effect of arachidonic acid supplementation during the gestational, lactational and post-weaning periods. (24137238)
2013
3
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. (23749989)
2013
4
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. (24260534)
2013
5
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. (23901204)
2013
6
Congenital torticollis due to sternomastoid aplasia with unilateral cerebellar hypoplasia: a rare association. (21997867)
2012
7
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. (21885617)
2011
8
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. (20376468)
2010
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
Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III. (17719950)
2007
12
"Staircase" saccadic intrusions plus transient yoking and neural integrator failure associated with cerebellar hypoplasia: a model simulation. (17182411)
2006
13
Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia. (16970885)
2006
14
Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. (15672385)
2005
15
Non-progressive congenital ataxia with cerebellar hypoplasia in three families. (15981765)
2005
16
Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia. (14623737)
2003
17
Clinical spectrum associated with cerebellar hypoplasia. (12878295)
2003
18
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. (11748497)
2001
19
Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. (10700701)
2000
20
Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: association or new syndrome? (10842296)
2000
21
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? (10514106)
1999
22
Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. (10653312)
1999
23
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? (10051020)
1999
24
Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. (10528257)
1999
25
Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. (9566649)
1998
26
Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. (10029349)
1998
27
Extensive facial strawberry mark associated with cerebellar hypoplasia and vascular abnormalities. (9065707)
1997
28
Clinical features of developmental disability associated with cerebellar hypoplasia. (8916160)
1996
29
Functional effects of methylazoxymethanol-induced cerebellar hypoplasia in rats. (8888017)
1996
30
Cerebellar hypoplasia in respiratory chain dysfunction. (8892374)
1996
31
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. (7607282)
1995
32
Non-progressive familial congenital cerebellar hypoplasia. (7722536)
1995
33
Cerebellar hypoplasia and hyperplasia in infantile autism. (7905084)
1994
34
Hypoplasia of the cerebellar vermis and cognitive deficits in survivors of childhood leukemia. (7945010)
1994
35
Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome. (1622524)
1992
36
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. (1785627)
1991
37
Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism. (2243234)
1990
38
An outbreak of congenital hydranencephaly and cerebellar hypoplasia among calves in South Kyushu, Japan: a pathological study. (2236906)
1990
39
Trichlorfon-induced congenital cerebellar hypoplasia in neonatal pigs. (3771339)
1986
40
Cerebellar hypoplasia in the Gunn rat is associated with quantitative changes in neurotypic and gliotypic proteins. (2410596)
1985
41
Studies on a cerebellar 50,000-dalton protein associated with cerebellar hypoplasia in jaundiced Gunn rats: its identity with glial fibrillary acidic protein as evidenced by the improved immunoblotting method. (3989566)
1985
42
Congenital cerebellar hypoplasia in jersey calves. (194564)
1977
43
The pathogenesis of parvovirus-induced cerebellar hypoplasia in the Syrian hamster, Mesocricetus auratus. Fluorescent antibody, foliation, cytoarchitectonic, Golgi and electron microscopic studies. (789416)
1976
44
Cerebellar hypoplasia of unknown etiology in pigs. (1146159)
1975
45
Pathogenesis of cerebellar hypoplasia produced by lymphocytic choriomeningitis virus infection of neonatal rats: protective effect of immunosuppression with anti-lymphoid serum. (4609903)
1974
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
Bovine cerebellar hypoplasia apparently caused by BVD-MD virus. A case report. (5389254)
1969
48
The relationship of maternal swine fever infection to cerebellar hypoplasia in piglets. (6005774)
1966
49
Cerebellar hypoplasia and its sequela in a horse. (13462901)
1957
50
Cerebellar hypoplasia and degeneration in a family of airedale dogs. (14939051)
1952

Genetic Variations for Cerebellar Hypoplasia

Expression for genes affiliated with Cerebellar Hypoplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 4Cell Signaling Technology
See all sources

Pathways related to Cerebellar Hypoplasia according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Cerebellar Hypoplasia

GO Terms for genes affiliated with Cerebellar Hypoplasia

Sources:
16Gene Ontology
See all sources

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
2reelin-mediated signaling pathwayGO:03802610.1RELN, VLDLR
3hindbrain developmentGO:03090210.1EN2, EN1, PTF1A
4midbrain developmentGO:03090110.0EN1, EN2, WNT1
5neuron migrationGO:00176410.0PAFAH1B1, RELN, DCX, ARX
6cerebral cortex tangential migrationGO:0218009.9ARX, RELN
7axon guidanceGO:0074119.8ARX, DCX, RELN, LAMB2, OPHN1

Products for genes affiliated with Cerebellar Hypoplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebellar Hypoplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet