MCID: CRB053
MIFTS: 18

Cerebellar Agenesis malady

Rare diseases category

Aliases & Classifications for Cerebellar Agenesis

About this section

Aliases & Descriptions for Cerebellar Agenesis:

Name: Cerebellar Agenesis 45


Classifications:



Summaries for Cerebellar Agenesis

About this section
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. An important gene associated with Cerebellar Agenesis is PTF1A (Pancreas Specific Transcription Factor, 1a). Affiliated tissues include cerebellum and brain, and related mouse phenotype cellular.

Related Diseases for Cerebellar Agenesis

About this section

Graphical network of diseases related to Cerebellar Agenesis:



Diseases related to cerebellar agenesis

Symptoms for Cerebellar Agenesis

About this section

Drugs & Therapeutics for Cerebellar Agenesis

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cerebellar Agenesis

Genetic Tests for Cerebellar Agenesis

About this section

Anatomical Context for Cerebellar Agenesis

About this section

MalaCards organs/tissues related to Cerebellar Agenesis:

33
Cerebellum, Brain

Animal Models for Cerebellar Agenesis or affiliated genes

About this section

MGI Mouse Phenotypes related to Cerebellar Agenesis:

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

Publications for Cerebellar Agenesis

About this section

Articles related to Cerebellar Agenesis:

(show all 27)
idTitleAuthorsYear
1
Peduncles Without Cerebellum: The Cerebellar Agenesis. (26452266)
2015
2
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. (25832852)
2015
3
Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function. (24733890)
2014
4
A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. (25149410)
2014
5
Preservation of language in the ataxic infant in a case of cerebellar agenesis. (21156446)
2011
6
Cerebellar agenesis revisited. (19843649)
2010
7
Complete cerebellar agenesis: a very rare abnormality of the posterior fossa. (19479681)
2009
8
Neuropsychological and functional study in a case of partial cerebellar agenesis. (19606387)
2009
9
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. (19650412)
2009
10
Dexterity in cerebellar agenesis. (16979674)
2007
11
Isolated one-sided cerebellar agenesis following an attempted medical termination of pregnancy. (17000518)
2006
12
Cerebellar agenesis. (15781801)
2005
13
Cerebellar agenesis II: motor and language functions. (16036465)
2005
14
Mutations in PTF1A cause pancreatic and cerebellar agenesis. (15543146)
2004
15
Cerebellar agenesis and diabetes insipidus. (15627945)
2004
16
Cerebellar agenesis: clinical, neuropsychological and MR findings. (14972755)
2003
17
Cerebellar agenesis in a suicide. (10739234)
2000
18
Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. (10210881)
1998
19
MRI findings in a neonate with cerebellar agenesis. (9744635)
1998
20
Cerebellar agenesis. (9031557)
1996
21
Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. (8796972)
1995
22
Cerebellar agenesis. (7953600)
1994
23
An association of subtotal cerebellar agenesis with organoid nevus--a possible new variety of neurocutaneous syndrome. (6660424)
1983
24
Cerebellar agenesis in two canine littermates. (6833111)
1983
25
Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi. Report on five members of one family. (501430)
1979
26
Congenital hydrocephalus and cerebellar agenesis. (657584)
1978
27
Cerebellar agenesis. (13307186)
1956

Variations for Cerebellar Agenesis

About this section

Expression for genes affiliated with Cerebellar Agenesis

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

Pathways for genes affiliated with Cerebellar Agenesis

About this section

GO Terms for genes affiliated with Cerebellar Agenesis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1transcription from RNA polymerase II promoterGO:00063669.3PTF1A, TRIM24
2positive regulation of transcription, DNA-templatedGO:00458939.2PTF1A, TRIM24

Molecular functions related to Cerebellar Agenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036829.3PTF1A, TRIM24

Sources for Cerebellar Agenesis

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