MCID: CRB053
MIFTS: 21

Cerebellar Agenesis malady

Rare diseases category
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Summaries for Cerebellar Agenesis

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Wikipedia:65 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 diabetes mellitus, permanent neonatal, with 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 phenotypes are cellular and tumorigenesis.

Aliases & Classifications for Cerebellar Agenesis

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Cerebellar Agenesis, Aliases & Descriptions:

Name: Cerebellar Agenesis 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Related Diseases for Cerebellar Agenesis

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Diseases related to Cerebellar Agenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pancreatic and cerebellar agenesis10.3
2diabetes mellitus, permanent neonatal, with cerebellar agenesis10.2
3hydrocephalus10.1
4cerebellum agenesis hydrocephaly10.1
5diabetes mellitus10.0
6diabetes insipidus10.0
7neonatal diabetes mellitus10.0
8communicating hydrocephalus10.0
9pancreatitis10.0

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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Drug clinical trials:

Search ClinicalTrials for Cerebellar Agenesis

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:

32
Cerebellum, Brain

Animal Models for Cerebellar Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Agenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.1TRIM24, PTF1A
2MP:00020069.0TRIM24, PTF1A
3MP:00053708.8TRIM24, PTF1A

Publications for Cerebellar Agenesis

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Articles related to Cerebellar Agenesis:

(show all 25)
idTitleAuthorsYear
1
Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function. (24733890)
2014
2
A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. (25149410)
2014
3
Preservation of language in the ataxic infant in a case of cerebellar agenesis. (21156446)
2011
4
Cerebellar agenesis revisited. (19843649)
2010
5
Complete cerebellar agenesis: a very rare abnormality of the posterior fossa. (19479681)
2009
6
Neuropsychological and functional study in a case of partial cerebellar agenesis. (19606387)
2009
7
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. (19650412)
2009
8
Dexterity in cerebellar agenesis. (16979674)
2007
9
Isolated one-sided cerebellar agenesis following an attempted medical termination of pregnancy. (17000518)
2006
10
Cerebellar agenesis. (15781801)
2005
11
Cerebellar agenesis II: motor and language functions. (16036465)
2005
12
Mutations in PTF1A cause pancreatic and cerebellar agenesis. (15543146)
2004
13
Cerebellar agenesis and diabetes insipidus. (15627945)
2004
14
Cerebellar agenesis: clinical, neuropsychological and MR findings. (14972755)
2003
15
Cerebellar agenesis in a suicide. (10739234)
2000
16
Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. (10210881)
1998
17
MRI findings in a neonate with cerebellar agenesis. (9744635)
1998
18
Cerebellar agenesis. (9031557)
1996
19
Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. (8796972)
1995
20
Cerebellar agenesis. (7953600)
1994
21
An association of subtotal cerebellar agenesis with organoid nevus--a possible new variety of neurocutaneous syndrome. (6660424)
1983
22
Cerebellar agenesis in two canine littermates. (6833111)
1983
23
Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi. Report on five members of one family. (501430)
1979
24
Congenital hydrocephalus and cerebellar agenesis. (657584)
1978
25
Cerebellar agenesis. (13307186)
1956

Variations for Cerebellar Agenesis

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Expression for genes affiliated with Cerebellar Agenesis

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Expression patterns in normal tissues for genes affiliated with Cerebellar Agenesis

Search GEO for disease gene expression data for Cerebellar Agenesis.

Pathways for genes affiliated with Cerebellar Agenesis

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Compounds for genes affiliated with Cerebellar Agenesis

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GO Terms for genes affiliated with Cerebellar Agenesis

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Molecular functions related to Cerebellar Agenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1TRIM24, PTF1A

Products for genes affiliated with Cerebellar Agenesis

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Sources for Cerebellar Agenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet