MCID: CRB053
MIFTS: 19

Cerebellar Agenesis malady

Category: Rare diseases

Aliases & Classifications for Cerebellar Agenesis

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Aliases & Descriptions for Cerebellar Agenesis:

Name: Cerebellar Agenesis 45

Classifications:



Summaries for Cerebellar Agenesis

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Wikipedia:68 Cerebellar agenesis is a rare condition in which a brain develops without the cerebellum. The cerebellum... more...

MalaCards based summary: Cerebellar Agenesis is related to pancreatic and cerebellar agenesis and permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome. An important gene associated with Cerebellar Agenesis is PTF1A (Pancreas Specific Transcription Factor, 1a). Affiliated tissues include cerebellum, brain and bone, and related mouse phenotype cellular.

Related Diseases for Cerebellar Agenesis

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



Diseases related to cerebellar agenesis

Symptoms for Cerebellar Agenesis

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Drugs & Therapeutics for Cerebellar Agenesis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cerebellar Agenesis

Genetic Tests for Cerebellar Agenesis

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Anatomical Context for Cerebellar Agenesis

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MalaCards organs/tissues related to Cerebellar Agenesis:

33
Cerebellum, Brain, Bone, Heart, Cervix, Endothelial, T cells

Animal Models for Cerebellar Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Agenesis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.5OFD1, PTF1A, TRIM24

Publications for Cerebellar Agenesis

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Articles related to Cerebellar Agenesis:

(show all 27)
idTitleAuthorsYear
1
Prognostic Factors for Small Cell Neuroendocrine Carcinoma of the Uterine Cervix: An Institutional Experience. (24401981)
2014
2
Inflammatory pseudotumour of the spleen associated with splenic tuberculosis. (25548610)
2014
3
Relation of Acanthosis nigricans to metabolic syndrome in overweight and obese women. (24650208)
2014
4
Incretin-based therapies for type 2 diabetes mellitus: effects on insulin resistance. (23855508)
2013
5
Low-modulus Mg/PCL hybrid bone substitute for osteoporotic fracture fixation. (23787111)
2013
6
High-dose prednisone in patients with heart failure and hyperuricemia: friend and foe? (23535276)
2013
7
Cholesterol diet withdrawal leads to an initial plaque instability and subsequent regression of accelerated iliac artery atherosclerosis in rabbits. (24146955)
2013
8
Stimulus-sensitive myoclonus and cerebellar ataxia following chikungunya meningoencephalitis. (23355353)
2013
9
Molecular analysis of hepatitis E virus from farm rabbits in Inner Mongolia, China and its successful propagation in A549 and PLC/PRF/5 cells. (23041252)
2012
10
Influence of diabetes on endothelial cell response during sepsis. (21286681)
2011
11
Clinical presentation and diagnosis of uterine sarcoma, including imaging. (21816678)
2011
12
In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium. (20378605)
2010
13
The dipeptidyl-peptidase-like protein DPP6 determines the unitary conductance of neuronal Kv4.2 channels. (19279261)
2009
14
Intact intracellular tail is critical for proper functioning of the tumor-associated, hypoxia-regulated carbonic anhydrase IX. (19861127)
2009
15
Subthalamic glutamic acid decarboxylase gene therapy: changes in motor function and cortical metabolism. (16835631)
2007
16
The patient with a severe degree of metabolic acidosis: a deductive analysis. (16835252)
2006
17
Dysfunctional p53 deletion mutants in cell lines derived from Hodgkin's lymphoma. (17065008)
2006
18
Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1A. (16287931)
2006
19
Treatment of localized epidermodysplasia verruciformis with tacalcitol ointment. (12453013)
2002
20
Antipsychotic-induced hyperprolactinemia and sexual dysfunction. (12397853)
2002
21
The management of massive pneumocephalus and cerebrospinal fluid rhinorrhoea as a consequence of biopsy in a patient with inverted papilloma. (9775299)
1998
22
The syndecan family of proteoglycans. Novel receptors mediating internalization of atherogenic lipoproteins in vitro. (9294130)
1997
23
T-cell oncogene rhombotin-2 interacts with retinoblastoma-binding protein 2. (9129143)
1997
24
Neuropathology and molecular genetics of neurofibromatosis 2 and related tumors. (7670657)
1995
25
Is serum creatine kinase:aspartate aminotransferase ratio useful for diagnosing acute myocardial infarction in elderly patients? (8463421)
1993
26
Assembly and intracellular transport of snRNP particles. (1827581)
1991
27

Variations for Cerebellar Agenesis

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Expression for genes affiliated with Cerebellar Agenesis

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Search GEO for disease gene expression data for Cerebellar Agenesis.

Pathways for genes affiliated with Cerebellar Agenesis

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GO Terms for genes affiliated with Cerebellar Agenesis

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription, DNA-templatedGO:00458939.3PTF1A, TRIM24

Sources for Cerebellar Agenesis

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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