MCID: CRB053
MIFTS: 16

Cerebellar Agenesis malady

Categories: Rare diseases

Aliases & Classifications for Cerebellar Agenesis

Aliases & Descriptions for Cerebellar Agenesis:

Name: Cerebellar Agenesis 50

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

Wikipedia : 71 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)
id Related Disease Score Top Affiliating Genes
1 pancreatic and cerebellar agenesis 12.3
2 hydrocephalus with cerebellar agenesis 11.8
3 cerebellum agenesis hydrocephaly 10.8
4 orofaciodigital syndrome i 10.8
5 hydrocephalus 9.7
6 cerebral folate deficiency 9.6 OFD1 PTF1A TRIM24
7 neonatal diabetes mellitus 9.6
8 communicating hydrocephalus 9.6
9 pancreatitis 9.6
10 diabetes insipidus 9.6
11 congenital hydrocephalus 9.6

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cerebellar Agenesis

Genetic Tests for Cerebellar Agenesis

Anatomical Context for Cerebellar Agenesis

MalaCards organs/tissues related to Cerebellar Agenesis:

39
Cerebellum, Brain

Publications for Cerebellar Agenesis

Articles related to Cerebellar Agenesis:

(show all 31)
id Title Authors Year
1
Primary cerebellar agenesis presenting as isolated cognitive impairment. ( 27606028 )
2016
2
Cerebellar contributions to self-motion perception: evidence from patients with congenital cerebellar agenesis. ( 26888100 )
2016
3
When one is Enough: Impaired Multisensory Integration in Cerebellar Agenesis. ( 26946125 )
2016
4
Clinical and MRI findings of cerebellar agenesis in two living adult patients. ( 27293341 )
2016
5
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. ( 25832852 )
2015
6
Peduncles Without Cerebellum: The Cerebellar Agenesis. ( 26452266 )
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
Neuropsychological and functional study in a case of partial cerebellar agenesis. ( 19606387 )
2009
13
A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. ( 19650412 )
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
Cerebellar agenesis and diabetes insipidus. ( 15627945 )
2004
19
Mutations in PTF1A cause pancreatic and cerebellar agenesis. ( 15543146 )
2004
20
Cerebellar agenesis: clinical, neuropsychological and MR findings. ( 14972755 )
2003
21
Cerebellar agenesis in a suicide. ( 10739234 )
2000
22
MRI findings in a neonate with cerebellar agenesis. ( 9744635 )
1998
23
Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. ( 10210881 )
1998
24
Cerebellar agenesis. ( 9031557 )
1996
25
Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. ( 8796972 )
1995
26
Cerebellar agenesis. ( 7953600 )
1994
27
Cerebellar agenesis in two canine littermates. ( 6833111 )
1983
28
An association of subtotal cerebellar agenesis with organoid nevus--a possible new variety of neurocutaneous syndrome. ( 6660424 )
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

Expression for Cerebellar Agenesis

Search GEO for disease gene expression data for Cerebellar Agenesis.

Pathways for Cerebellar Agenesis

GO Terms for Cerebellar Agenesis

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....