MCID: CRB053
MIFTS: 18

Cerebellar Agenesis malady

Category: Rare diseases

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 syndrome. An important gene associated with Cerebellar Agenesis is PTF1A (Pancreas Specific Transcription Factor, 1a). Affiliated tissues include cerebellum, brain and breast, 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, Breast, Bone, Heart, Endothelial, T cells

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 30)
idTitleAuthorsYear
1
Cerebellar contributions to self-motion perception: evidence from patients with congenital cerebellar agenesis. (26888100)
2016
2
When one is Enough: Impaired Multisensory Integration in Cerebellar Agenesis. (26946125)
2016
3
Peduncles Without Cerebellum: The Cerebellar Agenesis. (26452266)
2015
4
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. (25832852)
2015
5
Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function. (24733890)
2014
6
A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. (25149410)
2014
7
Preservation of language in the ataxic infant in a case of cerebellar agenesis. (21156446)
2011
8
Cerebellar agenesis revisited. (19843649)
2010
9
Complete cerebellar agenesis: a very rare abnormality of the posterior fossa. (19479681)
2009
10
Neuropsychological and functional study in a case of partial cerebellar agenesis. (19606387)
2009
11
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. (19650412)
2009
12
Dexterity in cerebellar agenesis. (16979674)
2007
13
Isolated one-sided cerebellar agenesis following an attempted medical termination of pregnancy. (17000518)
2006
14
Cerebellar agenesis. (15781801)
2005
15
Cerebellar agenesis II: motor and language functions. (16036465)
2005
16
Mutations in PTF1A cause pancreatic and cerebellar agenesis. (15543146)
2004
17
Cerebellar agenesis and diabetes insipidus. (15627945)
2004
18
Cerebellar agenesis: clinical, neuropsychological and MR findings. (14972755)
2003
19
Cerebellar agenesis in a suicide. (10739234)
2000
20
Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. (10210881)
1998
21
MRI findings in a neonate with cerebellar agenesis. (9744635)
1998
22
Cerebellar agenesis. (9031557)
1996
23
Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. (8796972)
1995
24
Cerebellar agenesis. (7953600)
1994
25
An association of subtotal cerebellar agenesis with organoid nevus--a possible new variety of neurocutaneous syndrome. (6660424)
1983
26
Cerebellar agenesis in two canine littermates. (6833111)
1983
27
Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi. Report on five members of one family. (501430)
1979
28
Congenital hydrocephalus and cerebellar agenesis. (657584)
1978
29
Cerebellar agenesis. (13307186)
1956
30

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
1positive regulation of transcription, DNA-templatedGO:00458939.3PTF1A, 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