MCID: CRB053
MIFTS: 17

Cerebellar Agenesis malady

Category: Rare diseases

Aliases & Classifications for Cerebellar Agenesis

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Aliases & Descriptions for Cerebellar Agenesis:

Name: Cerebellar Agenesis 46

Classifications:



Summaries for Cerebellar Agenesis

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Wikipedia:69 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 hydrocephalus with cerebellar agenesis. An important gene associated with Cerebellar Agenesis is PTF1A (Pancreas Specific Transcription Factor, 1a). Affiliated tissues include cerebellum and brain.

Related Diseases for Cerebellar Agenesis

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Graphical network of 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:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search 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:

34
Cerebellum, Brain

Animal Models for Cerebellar Agenesis or affiliated genes

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Publications for Cerebellar Agenesis

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Articles related to Cerebellar Agenesis:

(show all 31)
idTitleAuthorsYear
1
Clinical and MRI findings of cerebellar agenesis in two living adult patients. (27293341)
2016
2
Primary cerebellar agenesis presenting as isolated cognitive impairment. (27606028)
2016
3
Cerebellar contributions to self-motion perception: evidence from patients with congenital cerebellar agenesis. (26888100)
2016
4
When one is Enough: Impaired Multisensory Integration in Cerebellar Agenesis. (26946125)
2016
5
Peduncles Without Cerebellum: The Cerebellar Agenesis. (26452266)
2015
6
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. (25832852)
2015
7
A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. (25149410)
2014
8
Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function. (24733890)
2014
9
Preservation of language in the ataxic infant in a case of cerebellar agenesis. (21156446)
2011
10
Cerebellar agenesis revisited. (19843649)
2010
11
Complete cerebellar agenesis: a very rare abnormality of the posterior fossa. (19479681)
2009
12
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. (19650412)
2009
13
Neuropsychological and functional study in a case of partial cerebellar agenesis. (19606387)
2009
14
Dexterity in cerebellar agenesis. (16979674)
2007
15
Isolated one-sided cerebellar agenesis following an attempted medical termination of pregnancy. (17000518)
2006
16
Cerebellar agenesis II: motor and language functions. (16036465)
2005
17
Cerebellar agenesis. (15781801)
2005
18
Mutations in PTF1A cause pancreatic and cerebellar agenesis. (15543146)
2004
19
Cerebellar agenesis and diabetes insipidus. (15627945)
2004
20
Cerebellar agenesis: clinical, neuropsychological and MR findings. (14972755)
2003
21
Cerebellar agenesis in a suicide. (10739234)
2000
22
Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. (10210881)
1998
23
MRI findings in a neonate with cerebellar agenesis. (9744635)
1998
24
Cerebellar agenesis. (9031557)
1996
25
Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. (8796972)
1995
26
Cerebellar agenesis. (7953600)
1994
27
An association of subtotal cerebellar agenesis with organoid nevus--a possible new variety of neurocutaneous syndrome. (6660424)
1983
28
Cerebellar agenesis in two canine littermates. (6833111)
1983
29
Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi. Report on five members of one family. (501430)
1979
30
Congenital hydrocephalus and cerebellar agenesis. (657584)
1978
31
Cerebellar agenesis. (13307186)
1956

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
1transcription from RNA polymerase II promoterGO:00063669.3PTF1A, TRIM24
2positive regulation of transcription, DNA-templatedGO:00458939.0PTF1A, TRIM24

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.3PTF1A, TRIM24
2chromatin bindingGO:00036829.0PTF1A, TRIM24

Sources for Cerebellar Agenesis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet