MCID: CRB053
MIFTS: 18

Cerebellar Agenesis

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Agenesis

MalaCards integrated aliases for Cerebellar Agenesis:

Name: Cerebellar Agenesis 53

Classifications:



Summaries for Cerebellar Agenesis

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 Associated Transcription Factor 1a). Affiliated tissues include cerebellum and brain.

Wikipedia : 76 Cerebellar agenesis is a rare condition in which a brain develops without the cerebellum. The cerebellum... more...

Related Diseases for Cerebellar Agenesis

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 pancreatic and cerebellar agenesis 12.6
2 hydrocephalus with cerebellar agenesis 12.2
3 isolated cerebellar agenesis 12.1
4 cerebellum agenesis hydrocephaly 11.1
5 orofaciodigital syndrome i 11.0
6 hydrocephalus 9.9
7 diabetes mellitus 9.8
8 neonatal diabetes mellitus 9.8
9 communicating hydrocephalus 9.8
10 diabetes insipidus 9.8
11 congenital hydrocephalus 9.8

Graphical network of the top 20 diseases related to Cerebellar Agenesis:



Diseases related to Cerebellar Agenesis

Symptoms & Phenotypes for Cerebellar Agenesis

Drugs & Therapeutics for Cerebellar Agenesis

Search Clinical Trials , NIH Clinical Center for Cerebellar Agenesis

Genetic Tests for Cerebellar Agenesis

Anatomical Context for Cerebellar Agenesis

MalaCards organs/tissues related to Cerebellar Agenesis:

41
Cerebellum, Brain

Publications for Cerebellar Agenesis

Articles related to Cerebellar Agenesis:

(show all 33)
# Title Authors Year
1
Primary cerebellar agenesis in a normal man. ( 29766966 )
2018
2
Absence of associative motor learning and impaired time perception in a rare case of complete cerebellar agenesis. ( 30031016 )
2018
3
When one is Enough: Impaired Multisensory Integration in Cerebellar Agenesis. ( 26946125 )
2016
4
Cerebellar contributions to self-motion perception: evidence from patients with congenital cerebellar agenesis. ( 26888100 )
2016
5
Clinical and MRI findings of cerebellar agenesis in two living adult patients. ( 27293341 )
2016
6
Primary cerebellar agenesis presenting as isolated cognitive impairment. ( 27606028 )
2016
7
Peduncles Without Cerebellum: The Cerebellar Agenesis. ( 26452266 )
2015
8
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. ( 25832852 )
2015
9
A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. ( 25149410 )
2014
10
Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function. ( 24733890 )
2014
11
Preservation of language in the ataxic infant in a case of cerebellar agenesis. ( 21156446 )
2011
12
Cerebellar agenesis revisited. ( 19843649 )
2010
13
Neuropsychological and functional study in a case of partial cerebellar agenesis. ( 19606387 )
2009
14
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. ( 19650412 )
2009
15
Complete cerebellar agenesis: a very rare abnormality of the posterior fossa. ( 19479681 )
2009
16
Dexterity in cerebellar agenesis. ( 16979674 )
2007
17
Isolated one-sided cerebellar agenesis following an attempted medical termination of pregnancy. ( 17000518 )
2006
18
Cerebellar agenesis II: motor and language functions. ( 16036465 )
2005
19
Cerebellar agenesis. ( 15781801 )
2005
20
Cerebellar agenesis and diabetes insipidus. ( 15627945 )
2004
21
Mutations in PTF1A cause pancreatic and cerebellar agenesis. ( 15543146 )
2004
22
Cerebellar agenesis: clinical, neuropsychological and MR findings. ( 14972755 )
2003
23
Cerebellar agenesis in a suicide. ( 10739234 )
2000
24
Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. ( 10210881 )
1998
25
MRI findings in a neonate with cerebellar agenesis. ( 9744635 )
1998
26
Cerebellar agenesis. ( 9031557 )
1996
27
Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. ( 8796972 )
1995
28
Cerebellar agenesis. ( 7953600 )
1994
29
Cerebellar agenesis in two canine littermates. ( 6833111 )
1983
30
An association of subtotal cerebellar agenesis with organoid nevus--a possible new variety of neurocutaneous syndrome. ( 6660424 )
1983
31
Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi. Report on five members of one family. ( 501430 )
1979
32
Congenital hydrocephalus and cerebellar agenesis. ( 657584 )
1978
33
Cerebellar agenesis. ( 13307186 )
1956

Variations for Cerebellar Agenesis

Expression for Cerebellar Agenesis

Search GEO for disease gene expression data for Cerebellar Agenesis.

Pathways for Cerebellar Agenesis

GO Terms for Cerebellar Agenesis

Biological processes related to Cerebellar Agenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 8.96 PTF1A TRIM24
2 transcription by RNA polymerase II GO:0006366 8.62 PTF1A TRIM24

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.62 PTF1A TRIM24

Sources for Cerebellar Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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