MCID: CRB053
MIFTS: 18

Cerebellar Agenesis malady

Rare diseases category
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Summaries for Cerebellar Agenesis

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33MalaCards
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MalaCards: Cerebellar Agenesis is related to diabetes mellitus, permanent neonatal, with cerebellar agenesis and hydrocephalus. An important gene associated with Cerebellar Agenesis is PTF1A (pancreas specific transcription factor, 1a). Affiliated tissues include cerebellum, and related mouse phenotypes are cellular and tumorigenesis.

Aliases & Classifications for Cerebellar Agenesis

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43NIH Rare Diseases
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Classifications:

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


Aliases & Descriptions:

cerebellar agenesis 43


Related Diseases for Cerebellar Agenesis

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17GeneCards, 18GeneDecks
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Diseases related to Cerebellar Agenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

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

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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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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33MalaCards
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MalaCards organs/tissues related to Cerebellar Agenesis:

33
Cerebellum

Animal Models for Cerebellar Agenesis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cerebellar Agenesis:

37
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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52PubMed
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Articles related to Cerebellar Agenesis:

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

Variations for Cerebellar Agenesis

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Expression for genes affiliated with Cerebellar Agenesis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebellar Agenesis

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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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16Gene Ontology
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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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  • Antibodies
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Sources for Cerebellar Agenesis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet