MCID: CRB053
MIFTS: 19

Cerebellar Agenesis malady

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 diabetes insipidus. An important gene associated with Cerebellar Agenesis is PTF1A (pancreas specific transcription factor, 1a). Affiliated tissues include cerebellum, heart and kidney, and related mouse phenotypes are liver/biliary system and tumorigenesis.

Aliases & Classifications for Cerebellar Agenesis

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43NIH Rare Diseases
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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 agenesis10.3
2diabetes insipidus9.9
3neonatal diabetes mellitus9.9
4cerebellum agenesis hydrocephaly9.9
5pancreatic agenesis9.9

Graphical network of diseases related to Cerebellar Agenesis:



Diseases related to cerebellar agenesis

Clinical Features for Cerebellar Agenesis

Drugs & Therapeutics for Cerebellar Agenesis

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cerebellar Agenesis

Drug clinical trials:

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Search NIH Clinical Center for Cerebellar Agenesis

Search CenterWatch for Cerebellar Agenesis

Genetic Tests for Cerebellar Agenesis

Anatomical Context for Cerebellar Agenesis

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33MalaCards
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MalaCards organs/tissues related to Cerebellar Agenesis:

33
Cerebellum, Heart, Kidney, Tongue

Animal Models for Cerebellar Agenesis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Cerebellar Agenesis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1PTF1A, TRIM24
2MP:00020068.8PTF1A, TRIM24

Publications for Cerebellar Agenesis

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51PubMed
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Articles related to Cerebellar Agenesis:

(show all 41)
idTitleAuthorsYear
1
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. (22633752)
2013
2
Congenital rubella with agenesis of the inferior cerebellar vermis and total anomalous pulmonary venous drainage. (23303616)
2013
3
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. (24098143)
2013
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
MR demonstration of complete cerebellar and corpus callosum agenesis. (17190985)
2007
10
Dexterity in cerebellar agenesis. (16979674)
2007
11
Isolated one-sided cerebellar agenesis following an attempted medical termination of pregnancy. (17000518)
2006
12
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. (16053913)
2005
13
Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. (16440880)
2005
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
Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. (14566414)
2004
19
Cerebellar agenesis: clinical, neuropsychological and MR findings. (14972755)
2003
20
Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy. (11815869)
2002
21
Cerebellar agenesis in a suicide. (10739234)
2000
22
Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. (10507728)
1999
23
Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. (10210881)
1998
24
MRI findings in a neonate with cerebellar agenesis. (9744635)
1998
25
Cerebellar agenesis. (9031557)
1996
26
Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. (8796972)
1995
27
Cerebellar agenesis. (7953600)
1994
28
Antenatal ultrasound diagnosis of cerebellar vermian agenesis in a case of rhombencephalosynapsis. (8227394)
1993
29
Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. (2015333)
1991
30
Dandy-Walker syndrome and agenesis of the cerebellar vermis: diagnostic problems and genetic counselling. (2185113)
1990
31
Agenesis of the corpus callosum with cerebellar vermian hypoplasia in a foal resembling the Dandy-Walker syndrome: pre-mortem diagnosis by clinical evaluation and CT scanning. (2226396)
1990
32
Agenesis of the corpus callosum with cerebellar vermian hypoplasia in a foal resembling the Dandy-Walker syndrome: pre-mortem diagnosis by clinical evaluation and CT scanning. (2776727)
1989
33
Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers. (3215750)
1988
34
A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations. (6507477)
1984
35
An association of subtotal cerebellar agenesis with organoid nevus--a possible new variety of neurocutaneous syndrome. (6660424)
1983
36
Cerebellar agenesis in two canine littermates. (6833111)
1983
37
Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case. (7072487)
1982
38
Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi. Report on five members of one family. (501430)
1979
39
Congenital hydrocephalus and cerebellar agenesis. (657584)
1978
40
Three familial midline malformtion syndromes of the central nervous system: agenesis of the corpus callosum and anterior horn-cell disease; agenesis of cerebellar vermis; and atrophy of the cerebellar vermis. (1227532)
1975
41
Cerebellar agenesis. (13307186)
1956

Genetic Variations for Cerebellar Agenesis

Expression for genes affiliated with Cerebellar Agenesis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Cerebellar Agenesis

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:0435659.1PTF1A, TRIM24

Products for genes affiliated with Cerebellar Agenesis

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Sources for Cerebellar Agenesis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet