MCID: CRB053
MIFTS: 18

Cerebellar Agenesis malady

Category: Rare diseases

Aliases & Classifications for Cerebellar Agenesis

About this section

Aliases & Descriptions for Cerebellar Agenesis:

Name: Cerebellar Agenesis 48

Classifications:



Summaries for Cerebellar Agenesis

About this section
Wikipedia:71 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 hydrocephalus with cerebellar agenesis. An important gene associated with Cerebellar Agenesis is PTF1A (Pancreas Specific Transcription Factor, 1a). Affiliated tissues include cerebellum and brain.

Related Diseases for Cerebellar Agenesis

About this section

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

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatic and cerebellar agenesis12.3
2hydrocephalus with cerebellar agenesis11.8
3orofaciodigital syndrome i10.8
4cerebellum agenesis hydrocephaly10.8
5hydrocephalus9.7
6neonatal diabetes mellitus9.6
7communicating hydrocephalus9.6
8pancreatitis9.6
9diabetes insipidus9.6
10congenital hydrocephalus9.6
11spinocerebellar ataxia x-linked type 29.0OFD1, PTF1A, TRIM24

Graphical network of diseases related to Cerebellar Agenesis:



Diseases related to cerebellar agenesis

Symptoms & Phenotypes for Cerebellar Agenesis

About this section

Drugs & Therapeutics for Cerebellar Agenesis

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Cerebellar Agenesis

Genetic Tests for Cerebellar Agenesis

About this section

Anatomical Context for Cerebellar Agenesis

About this section

MalaCards organs/tissues related to Cerebellar Agenesis:

36
Cerebellum, Brain

Publications for Cerebellar Agenesis

About this section

Articles related to Cerebellar Agenesis:

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

Variations for Cerebellar Agenesis

About this section

Expression for genes affiliated with Cerebellar Agenesis

About this section
Search GEO for disease gene expression data for Cerebellar Agenesis.

Pathways for genes affiliated with Cerebellar Agenesis

About this section

GO Terms for genes affiliated with Cerebellar Agenesis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription, DNA-templatedGO:004589310.0PTF1A, TRIM24
2transcription from RNA polymerase II promoterGO:00063669.3PTF1A, TRIM24

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

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:000368210.0PTF1A, TRIM24
2sequence-specific DNA bindingGO:00435659.3PTF1A, TRIM24

Sources for Cerebellar Agenesis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet