MCID: CRB045
MIFTS: 36

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 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 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 242)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar hypoplasia tapetoretinal degeneration30.8CASK, DKC1, OPHN1, PI4KA, RELN, VLDLR
2cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 112.6
3mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance12.6
4mental retardation and microcephaly with pontine and cerebellar hypoplasia12.6
5lissencephaly 7 with cerebellar hypoplasia12.5
6polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis12.5
7lissencephaly with cerebellar hypoplasia12.4
8microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome12.4
9cerebellar hypoplasia with endosteal sclerosis12.3
10porencephaly cerebellar hypoplasia internal malformations12.3
11cerebral calcification cerebellar hypoplasia12.3
12thrombocytopenia cerebellar hypoplasia short stature12.3
13x-linked intellectual disability-cerebellar hypoplasia syndrome12.3
14isolated cerebellar hypoplasia/agenesis12.3
15isolated bilateral hemispheric cerebellar hypoplasia12.3
16isolated unilateral hemispheric cerebellar hypoplasia12.3
17lissencephaly with cerebellar hypoplasia type f12.3
18lissencephaly with cerebellar hypoplasia type e12.3
19lissencephaly with cerebellar hypoplasia type b12.3
20lissencephaly with cerebellar hypoplasia type a12.3
21lissencephaly with cerebellar hypoplasia type d12.3
22lissencephaly with cerebellar hypoplasia type c12.3
23dyskeratosis congenita, x-linked11.8
24x-linked intellectual disability, najm type11.6
25dyskeratosis congenita11.5
26spinocerebellar ataxia, autosomal recessive 211.4
27lissencephaly 211.3
28pancreatic and cerebellar agenesis11.3
29jung wolff back stahl syndrome11.3
30intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome11.3
31neu-laxova syndrome110.4
32muscular dystrophy-dystroglycanopathy , type b, 1410.4
33coach syndrome10.4
34revesz syndrome10.4
35cerebellofaciodental syndrome10.4
36congenital disorder of glycosylation, type ia10.4
37dyskeratosis congenita, autosomal recessive 510.4
38hepatitis10.3
39prostatitis10.3
40prostate cancer10.3
41muscular dystrophy-dystroglycanopathy , type a, 1410.2
42dyskeratosis congenita, autosomal dominant 110.2
43cortical dysplasia, complex, with other brain malformations 610.2
44ritscher-schinzel syndrome10.2
45neu-laxova syndrome 210.2
46pontocerebellar hypoplasia, type 1c10.2
47pontocerebellar hypoplasia type 1a10.2
48cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.2
49trichothiodystrophy 5, nonphotosensitive10.2
50cerebellar ataxia, mental retardation and dysequlibrium syndrome10.2

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, Liver, Endothelial, T cells, Monocytes

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 243)
idTitleAuthorsYear
1
Can Chinese Herbal Medicine Adjunctive Therapy Improve Outcomes of Senile Vascular Dementia? Systematic Review with Meta-analysis of Clinical Trials. (26443194)
2015
2
Glycine receptor antibodies and progressive encephalomyelitis with rigidity and myoclonus with predominant motor neuron degeneration - Expanding the clinical spectrum. (25891831)
2015
3
Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations. (25014214)
2014
4
Molecular photoacoustic imaging of follicular thyroid carcinoma. (23349314)
2013
5
Accuracy of the ice test in the diagnosis of myasthenia gravis in patients with ptosis. (23536427)
2013
6
Protein kinase A-II+ regulates Na,K-ATPase endocytosis in alveolar epithelial cells exposed to high CO(2) concentrations. (23349050)
2013
7
What do we need to know about disease ecology to prevent Lyme disease in the northeastern United States? (22308766)
2012
8
Cutaneous collagenous vasculopathy: description of two new cases in elderly women and review of the literature. (22814232)
2012
9
Expression of BCL10 in cervical cancer has a role in the regulation of cell growth through the activation of NF-I_B-dependent cyclin D1 signaling. (22564715)
2012
10
Genetic variation in stearoyl-CoA desaturase 1 is associated with metabolic syndrome prevalence in Costa Rican adults. (22049297)
2011
11
Structural insights into Nox4 and Nox2: motifs involved in function and cellular localization. (19995913)
2010
12
New insights in the immunologic basis of psoriasis. (20430301)
2010
13
Words of wisdom. Re: the role of short frenulum and the effects of frenulectomy on premature ejaculation. (20965053)
2010
14
Identifying and classifying hyperostosis frontalis interna via computerized tomography. (21046669)
2010
15
Pancreatic-type hyperamylasemia and hyperlipasemia secondary to ruptured ovarian cyst: a case report and review of the literature. (18993019)
2010
16
Association of the CPT1B gene with skeletal muscle fat infiltration in Afro-Caribbean men. (19553926)
2009
17
A demonstration of the efficacy of two of the components of cognitive therapy for social phobia. (19081225)
2009
18
Human melanoma cells under endoplasmic reticulum stress are more susceptible to apoptosis induced by the BH3 mimetic obatoclax. (19724688)
2009
19
Monoubiquitylation of H2A.Z distinguishes its association with euchromatin or facultative heterochromatin. (17636032)
2007
20
Therapy for hypophosphatasia]. (17906415)
2007
21
Expression of CYR61 and VEGF in extranodal nasal-type NK/T cell lymphoma and their significances]. (17343196)
2006
22
Decreased gill ATPase activities in the freshwater fish Channa punctata (Bloch) exposed to a diluted paper mill effluent. (16122799)
2006
23
Degradation of the gluconeogenic enzyme fructose-1, 6-bisphosphatase is dependent on the vacuolar ATPase. (16874049)
2005
24
Role of hemoclips in a patient with cecal angiodysplasia at high risk of recurrent bleeding from antithrombotic therapy to maintain coronary stent patency: a case report. (16111979)
2005
25
Oxidative phosphorylation analysis: assessing the integrated functional activity of human skeletal muscle mitochondria--case studies. (16120399)
2004
26
Endomucin, a sialomucin expressed in high endothelial venules, supports L-selectin-mediated rolling. (15249540)
2004
27
Tadalafil. (14498756)
2003
28
Come forth CD1d: Hsp110 in the regulation of intestinal epithelial CD1d expression. (12952910)
2003
29
Effect of organic isothiocyanates on the P-glycoprotein- and MRP1-mediated transport of daunomycin and vinblastine. (12425469)
2002
30
The human interferon receptor: NMR-based modeling, mapping of the IFN-alpha 2 binding site, and observed ligand-induced tightening. (11888273)
2002
31
Differential modulation of stimulatory and inhibitory Fc gamma receptors on human monocytes by Th1 and Th2 cytokines. (11123333)
2001
32
Continuous infusion of epoprostenol improves the net balance between pulmonary endothelin-1 clearance and release in primary pulmonary hypertension. (10385501)
1999
33
Oncogenic human papillomavirus E6 proteins target the discs large tumour suppressor for proteasome-mediated degradation. (10523825)
1999
34
7-Ketocholesterol. (10224662)
1999
35
Early specification of limb muscle precursor cells by the homeobox gene Lbx1h. (10508520)
1999
36
Oxidative stress in bacterial meningitis. (9989452)
1999
37
Effect of maternal hydration on oligohydramnios: a comparison of three volume expansion methods. (9764623)
1998
38
Fluid shear stress activation of egr-1 transcription in cultured human endothelial and epithelial cells is mediated via the extracellular signal-related kinase 1/2 mitogen-activated protein kinase pathway. (9616225)
1998
39
Herpes simplex virus 1 alpha regulatory protein ICP0 interacts with and stabilizes the cell cycle regulator cyclin D3. (9311810)
1997
40
Prognostic value of bcl-2 expression in patients with operable carcinoma of the uterine cervix. (9059353)
1997
41
CD45 and RPTPalpha display different protein tyrosine phosphatase activities in T lymphocytes. (9581568)
1997
42
Imprinting and expression of insulin-like growth factor-II and H19 in normal breast tissue and breast tumor. (8636375)
1996
43
The liver biochemical tests and serological markers of hepatitis B virus in the very old-aged population in Taiwan. (8820031)
1996
44
Clinical efficacy and tolerability of tenoxicam in African patients with osteoarthritis, rheumatoid arthritis, tendinitis and/or bursitis: an open study. (1778090)
1991
45
Folate deficiency due to giardiasis. (2926745)
1989
46
Keratoderma of myxoedema. (2978468)
1988
47
Extrinsic allergic alveolitis due to milk allergy: case report and review of the literature. (7065466)
1982
48
Laser perimetry: diagnostic application in six cases of pituitary chromophobe adenoma. (4801814)
1973
49
Observations on pellagra in American prisoners of war in the Philippines. (20273815)
1946
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