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MCID: CRB053
MIFTS: 16

Cerebellar Agenesis

Categories: Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications
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Aliases & Classifications for Cerebellar Agenesis

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MalaCards integrated aliases for Cerebellar Agenesis:

Name: Cerebellar Agenesis 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


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Summaries for Cerebellar Agenesis

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MalaCards based summary : Cerebellar Agenesis is related to neonatal diabetes mellitus and pancreatic and cerebellar agenesis. An important gene associated with Cerebellar Agenesis is PTF1A (Pancreas Associated Transcription Factor 1a). Affiliated tissues include cerebellum, brain and spinal cord.

Wikipedia : 74 Cerebellar agenesis is a rare condition in which a brain develops without the cerebellum. The cerebellum... more...

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Related Diseases for Cerebellar Agenesis

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 29.0 TRIM24 PTF1A
2 pancreatic and cerebellar agenesis 12.8
3 hydrocephalus with cerebellar agenesis 12.6
4 isolated cerebellar agenesis 12.4
5 orofaciodigital syndrome i 11.2
6 ataxia and polyneuropathy, adult-onset 10.1
7 hydrocephalus 9.9
8 diabetes mellitus 9.9
9 pathologic nystagmus 9.9
10 discrimination, two-point, reduction in 9.8
11 diabetes mellitus, permanent neonatal 1 9.8
12 helix syndrome 9.8
13 diabetes mellitus, permanent neonatal 4 9.8
14 autosomal recessive disease 9.8
15 hereditary ataxia 9.8
16 pontocerebellar hypoplasia 9.8
17 communicating hydrocephalus 9.8
18 cerebellar disease 9.8
19 hyperglycemia 9.8
20 dyslexia 9.8
21 t-cell lymphoblastic leukemia/lymphoma 9.8
22 diabetes insipidus 9.8
23 congenital hydrocephalus 9.8
24 leukemia, t-cell, chronic 9.8
25 tremor 9.8
26 congenital communicating hydrocephalus 9.8

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



Diseases related to Cerebellar Agenesis
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Symptoms & Phenotypes for Cerebellar Agenesis

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Drugs & Therapeutics for Cerebellar Agenesis

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Search Clinical Trials , NIH Clinical Center for Cerebellar Agenesis

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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:

40
Cerebellum, Brain, Spinal Cord
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Publications for Cerebellar Agenesis

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Articles related to Cerebellar Agenesis:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Transcription factor Ptf1a in development, diseases and reprogramming. 61
30470852 2019
2
Absence of associative motor learning and impaired time perception in a rare case of complete cerebellar agenesis. 61
30031016 2018
3
Primary cerebellar agenesis in a normal man. 61
29766966 2018
4
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. 61
28663161 2017
5
Role of the cerebellum in high stages of motor planning hierarchy. 61
28077667 2017
6
When one is Enough: Impaired Multisensory Integration in Cerebellar Agenesis. 61
26946125 2017
7
An Acquired Form of Dandy-Walker Malformation with Enveloping Hemosiderin Deposits. 61
29209547 2017
8
Cerebellar disruptions and neurodevelopmental disabilities. 61
27184462 2016
9
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. 61
27284104 2016
10
Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury. 61
27423799 2016
11
Cerebellar contributions to self-motion perception: evidence from patients with congenital cerebellar agenesis. 61
26888100 2016
12
Clinical and MRI findings of cerebellar agenesis in two living adult patients. 61
27293341 2016
13
Primary cerebellar agenesis presenting as isolated cognitive impairment. 61
27606028 2016
14
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. 61
25832852 2016
15
The Woman Born Without a Cerebellum: A Real-Life Case Adapted for Use in an Undergraduate Developmental and Systems Neuroscience Course. 61
27980478 2016
16
A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient. 61
25149410 2015
17
Peduncles Without Cerebellum: The Cerebellar Agenesis. 61
26452266 2015
18
Terminology in morphological anomalies of the cerebellum does matter. 61
26331051 2015
19
Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function. 61
24733890 2014
20
Many faces of monogenic diabetes. 61
24843749 2014
21
Preservation of language in the ataxic infant in a case of cerebellar agenesis. 61
21156446 2011
22
Cerebellar agenesis revisited. 61
19843649 2010
23
Neuropsychological and functional study in a case of partial cerebellar agenesis. 61
19606387 2009
24
Morphological spectrum of prenatal cerebellar disruptions. 61
18945628 2009
25
Complete cerebellar agenesis: a very rare abnormality of the posterior fossa. 61
19479681 2009
26
Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. 61
19191827 2009
27
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. 61
19650412 2009
28
Diprosopus, craniorachischisis, arthrogryposis, and other associated anomalies in a stillborn lamb. 61
19052501 2008
29
Cerebellar development and disease. 61
18513948 2008
30
Screening for structural fetal anomalies during the nuchal translucency ultrasound examination. 61
17689643 2007
31
Dexterity in cerebellar agenesis. 61
16979674 2007
32
MR demonstration of complete cerebellar and corpus callosum agenesis. 61
17190985 2007
33
The neuropsychiatry of the cerebellum - insights from the clinic. 61
17786822 2007
34
Isolated one-sided cerebellar agenesis following an attempted medical termination of pregnancy. 61
17000518 2006
35
PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L. 61
16354684 2006
36
Ptf1a determines GABAergic over glutamatergic neuronal cell fate in the spinal cord dorsal horn. 61
16291784 2005
37
Cerebellar agenesis II: motor and language functions. 61
16036465 2005
38
Cerebellar agenesis. 61
15781801 2005
39
Cerebellar agenesis and diabetes insipidus. 61
15627945 2004
40
Mutations in PTF1A cause pancreatic and cerebellar agenesis. 61
15543146 2004
41
Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. 61
15098235 2004
42
Cerebellar agenesis: clinical, neuropsychological and MR findings. 61
14972755 2003
43
[At the crossroads between developmental and degenerative diseases: the cerebellar disorders of early infancy. Classification and practical approach]. 61
12773867 2003
44
Comparison of eyeblink conditioning in patients with superior and posterior inferior cerebellar lesions. 61
12477698 2003
45
Oral-Facial-Digital Syndrome Type I 61
20301367 2002
46
Vanishing cerebellum in myelomeningocoele. 61
11995957 2002
47
Brain injuries in early foetal life: consequences for brain development. 61
11201424 2001
48
[Cerebellar agenesis]. 61
11462469 2001
49
Cerebellar agenesis in a suicide. 61
10739234 2000
50
Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. 61
10507728 1999
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Variations for Cerebellar Agenesis

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Expression for Cerebellar Agenesis

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Search GEO for disease gene expression data for Cerebellar Agenesis.
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Pathways for Cerebellar Agenesis

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GO Terms for Cerebellar Agenesis

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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 8.62 TRIM24 PTF1A

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 TRIM24 PTF1A
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Sources for Cerebellar Agenesis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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