MCID: CRB209
MIFTS: 22

Cerebellar Malformation

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Malformation

MalaCards integrated aliases for Cerebellar Malformation:

Name: Cerebellar Malformation 59 6

Classifications:



External Ids:

Orphanet 59 ORPHA182061

Summaries for Cerebellar Malformation

MalaCards based summary : Cerebellar Malformation is related to joubert syndrome 1 and lennox-gastaut syndrome. An important gene associated with Cerebellar Malformation is TMEM67 (Transmembrane Protein 67). Affiliated tissues include cerebellum, brain and tongue.

Related Diseases for Cerebellar Malformation

Diseases in the Cerebellar Hypoplasia family:

Cerebellar Malformation

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 1 28.8 TMEM67 KIAA0556 CEP104
2 lennox-gastaut syndrome 28.8 TBC1D24 KPNA7
3 global cerebellar malformation 12.2
4 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 12.2
5 genetic syndrome with a cerebellar malformation as major feature 12.2
6 genetic cerebellar malformation 12.2
7 syndrome with a cerebellar malformation as major feature 12.2
8 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 12.2
9 walker-warburg syndrome 11.5
10 muscular dystrophy-dystroglycanopathy , type a, 1 11.0
11 anemia, sideroblastic, and spinocerebellar ataxia 11.0
12 gomez-lopez-hernandez syndrome 11.0
13 joubert syndrome 21 11.0
14 cerebellar hypoplasia tapetoretinal degeneration 11.0
15 rhombencephalosynapsis 10.1
16 cerebellar hypoplasia 10.0
17 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
18 pontocerebellar hypoplasia 9.9
19 hydrocephalus 9.9
20 polymicrogyria 9.9
21 congenital hydrocephalus 9.9
22 ataxia and polyneuropathy, adult-onset 9.9
23 alacrima, achalasia, and mental retardation syndrome 9.9
24 lissencephaly 9.9
25 autism spectrum disorder 9.9
26 muscular dystrophy 9.9
27 cerebellar agenesis 9.9
28 medulloblastoma 9.7
29 nevus, epidermal 9.7
30 retinoblastoma 9.7
31 charge syndrome 9.7
32 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.7
33 corpus callosum, partial agenesis of, x-linked 9.7
34 myoclonic epilepsy, familial infantile 9.7
35 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.7
36 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.7
37 speech and communication disorders 9.7
38 west syndrome 9.7
39 autosomal recessive disease 9.7
40 myelomeningocele 9.7
41 sensorineural hearing loss 9.7
42 obstructive hydrocephalus 9.7
43 hyperostosis 9.7
44 focal epilepsy 9.7
45 early myoclonic encephalopathy 9.7
46 nominal aphasia 9.7
47 familial retinoblastoma 9.7
48 pathologic nystagmus 9.7
49 microcephaly 9.7
50 tbc1d24-related disorders 9.7

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



Diseases related to Cerebellar Malformation

Symptoms & Phenotypes for Cerebellar Malformation

Drugs & Therapeutics for Cerebellar Malformation

Search Clinical Trials , NIH Clinical Center for Cerebellar Malformation

Genetic Tests for Cerebellar Malformation

Anatomical Context for Cerebellar Malformation

MalaCards organs/tissues related to Cerebellar Malformation:

41
Cerebellum, Brain, Tongue

Publications for Cerebellar Malformation

Articles related to Cerebellar Malformation:

(show top 50) (show all 102)
# Title Authors PMID Year
1
Developmental outcomes in children with congenital cerebellar malformations. 38
30320441 2019
2
Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings. 38
30819232 2019
3
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. 38
30580482 2018
4
Development of a Psychiatric Disorder Linked to Cerebellar Lesions. 38
29460204 2018
5
Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850). 38
29334628 2018
6
Vertical Transmission of the Zika Virus Causes Neurological Disorders in Mouse Offspring. 38
29476066 2018
7
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. 38
28677066 2017
8
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. 38
28900662 2017
9
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. 38
27103078 2017
10
Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. 38
28092268 2017
11
Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. 38
27841240 2016
12
Atypical psychotic symptoms and Dandy-Walker variant. 38
27662527 2016
13
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 38
26714646 2015
14
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 38
26477546 2015
15
Clival encephalocele and 5q15 deletion: a case report. 38
24762864 2015
16
Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study. 38
25668516 2015
17
A forward genetic screen in mice identifies mutants with abnormal cortical patterning. 38
23968836 2015
18
Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth. 38
25513817 2014
19
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. 38
24045845 2014
20
Anesthesia for a child with Walker-Warburg syndrome. 38
24794457 2014
21
Long-term developmental outcome of children with a fetal diagnosis of isolated inferior vermian hypoplasia. 38
23964086 2014
22
Cerebellar Malformation: Deficits in early neural tube identity found in CHARGE syndrome. 38
24368735 2013
23
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis. 38
24167461 2013
24
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. 38
23517570 2013
25
Congenital ataxia due to cerebellar malformation presenting with unilateral hypoplasia. 38
23563724 2013
26
Unilateral cerebellar hypoplasia and mesencephalic malformation in a Hanoverian foal. 38
23608891 2013
27
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. 38
22965664 2012
28
Regional cerebellar volumes predict functional outcome in children with cerebellar malformations. 38
21901523 2012
29
Motor sequence learning in children with spina bifida. 38
23066938 2012
30
Neuroimaging of Dandy-Walker malformation: new concepts. 38
24132069 2011
31
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family. 38
21796728 2011
32
Deregulation of the p57-E2F1-p53 axis results in nonobstructive hydrocephalus and cerebellar malformation in mice. 38
21844226 2011
33
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. 38
21484435 2011
34
Partial rhombencephalosynapsis: prenatal MR imaging diagnosis and postnatal follow up. 38
21748940 2011
35
In vitro study on human cytomegalovirus affecting early pregnancy villous EVT's invasion function. 38
21392403 2011
36
Clinical expression of an inherited unbalanced translocation in chromosome 6. 38
23074675 2011
37
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient. 38
21204220 2011
38
Cochlear implantation in pontine tegmental cap dysplasia. 38
20627414 2010
39
Intracranial irregularities beside hydrocephalus in H-Tx rats. 38
19812933 2010
40
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. 38
19906870 2009
41
Looking at cerebellar malformations through text-mined interactomes of mice and humans. 38
19893633 2009
42
Malformations of the midbrain and hindbrain: a retrospective study and review of the literature. 38
19337779 2009
43
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. 38
19668217 2009
44
Normal and abnormal anatomy of the cerebellar vermis in midgestational human fetuses. 38
19441098 2009
45
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. 38
19057916 2009
46
Cognitive outcome in children with rhombencephalosynapsis. 38
18407532 2009
47
Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia. 38
18364386 2008
48
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. 38
18069971 2008
49
Cerebellar vermian hypoplasia in a Cocker Spaniel. 38
18487946 2008
50
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. 38
17690130 2007

Variations for Cerebellar Malformation

ClinVar genetic disease variations for Cerebellar Malformation:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 8:94808198-94808198 8:93795970-93795970
2 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 8:94798483-94798483 8:93786255-93786255
3 AAR2 NM_015511.4(AAR2): c.520G> A (p.Val174Met) single nucleotide variant Likely pathogenic rs746800707 20:34828310-34828310 20:36240388-36240388

Expression for Cerebellar Malformation

Search GEO for disease gene expression data for Cerebellar Malformation.

Pathways for Cerebellar Malformation

GO Terms for Cerebellar Malformation

Cellular components related to Cerebellar Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.8 TMEM67 KIAA0556 CEP104

Sources for Cerebellar Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....