MCID: CRB053
MIFTS: 17

Cerebellar Agenesis malady

Rare diseases category

Summaries for Cerebellar Agenesis

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Wikipedia:63 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 phenotypes are cellular and tumorigenesis.

Aliases & Classifications for Cerebellar Agenesis

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Cerebellar Agenesis, Aliases & Descriptions:

Name: Cerebellar Agenesis 41


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 Suite gene sharing:

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

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:

31
Cerebellum, Brain

Animal Models for Cerebellar Agenesis or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Agenesis:

35
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 26)
idTitleAuthorsYear
1
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. (25832852)
2015
2
Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function. (24733890)
2014
3
A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. (25149410)
2014
4
Preservation of language in the ataxic infant in a case of cerebellar agenesis. (21156446)
2011
5
Cerebellar agenesis revisited. (19843649)
2010
6
Complete cerebellar agenesis: a very rare abnormality of the posterior fossa. (19479681)
2009
7
Neuropsychological and functional study in a case of partial cerebellar agenesis. (19606387)
2009
8
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. (19650412)
2009
9
Dexterity in cerebellar agenesis. (16979674)
2007
10
Isolated one-sided cerebellar agenesis following an attempted medical termination of pregnancy. (17000518)
2006
11
Cerebellar agenesis. (15781801)
2005
12
Cerebellar agenesis II: motor and language functions. (16036465)
2005
13
Mutations in PTF1A cause pancreatic and cerebellar agenesis. (15543146)
2004
14
Cerebellar agenesis and diabetes insipidus. (15627945)
2004
15
Cerebellar agenesis: clinical, neuropsychological and MR findings. (14972755)
2003
16
Cerebellar agenesis in a suicide. (10739234)
2000
17
Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. (10210881)
1998
18
MRI findings in a neonate with cerebellar agenesis. (9744635)
1998
19
Cerebellar agenesis. (9031557)
1996
20
Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. (8796972)
1995
21
Cerebellar agenesis. (7953600)
1994
22
An association of subtotal cerebellar agenesis with organoid nevus--a possible new variety of neurocutaneous syndrome. (6660424)
1983
23
Cerebellar agenesis in two canine littermates. (6833111)
1983
24
Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi. Report on five members of one family. (501430)
1979
25
Congenital hydrocephalus and cerebellar agenesis. (657584)
1978
26
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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435659.1TRIM24, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet