MCID: CRB209
MIFTS: 22

Cerebellar Malformation

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

Aliases & Classifications for Cerebellar Malformation

MalaCards integrated aliases for Cerebellar Malformation:

Name: Cerebellar Malformation 58 6

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA182061

Summaries for Cerebellar Malformation

MalaCards based summary : Cerebellar Malformation is related to joubert syndrome 21 and joubert syndrome 1. 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 70)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 21 31.6 KATNIP CEP104
2 joubert syndrome 1 29.3 TMEM67 KATNIP CEP104
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 a major feature 12.2
6 genetic cerebellar malformation 12.2
7 syndrome with a cerebellar malformation as a 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 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 11.0
14 cerebellar hypoplasia tapetoretinal degeneration 11.0
15 dandy-walker syndrome 10.1
16 rhombencephalosynapsis 10.1
17 cerebellar hypoplasia 10.1
18 joubert syndrome 25 10.1 KATNIP CEP104
19 joubert syndrome 26 10.0 KATNIP CEP104
20 ataxia and polyneuropathy, adult-onset 9.9
21 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
22 autism spectrum disorder 9.9
23 pontocerebellar hypoplasia 9.9
24 hydrocephalus 9.9
25 polymicrogyria 9.9
26 joubert syndrome 8 9.9 TMEM67 KATNIP
27 apraxia 9.9 TMEM67 CEP104
28 abnormal hair, joint laxity, and developmental delay 9.9
29 alacrima, achalasia, and mental retardation syndrome 9.9
30 lissencephaly 9.9
31 muscular dystrophy 9.9
32 cerebellar agenesis 9.9
33 senior-loken syndrome 1 9.8 TMEM67 CEP104
34 medulloblastoma 9.7
35 nevus, epidermal 9.7
36 retinoblastoma 9.7
37 charge syndrome 9.7
38 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.7
39 corpus callosum, partial agenesis of, x-linked 9.7
40 myoclonic epilepsy, familial infantile 9.7
41 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.7
42 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.7
43 speech and communication disorders 9.7
44 west syndrome 9.7
45 lennox-gastaut syndrome 9.7
46 autosomal recessive disease 9.7
47 myelomeningocele 9.7
48 sensorineural hearing loss 9.7
49 microcephaly 9.7
50 obstructive hydrocephalus 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:

40
Cerebellum, Brain, Tongue

Publications for Cerebellar Malformation

Articles related to Cerebellar Malformation:

(show top 50) (show all 104)
# Title Authors PMID Year
1
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2020
2
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
3
Developmental outcomes in children with congenital cerebellar malformations. 61
30320441 2019
4
Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings. 61
30819232 2019
5
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. 61
30580482 2018
6
Development of a Psychiatric Disorder Linked to Cerebellar Lesions. 61
29460204 2018
7
Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850). 61
29334628 2018
8
Vertical Transmission of the Zika Virus Causes Neurological Disorders in Mouse Offspring. 61
29476066 2018
9
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. 61
28677066 2017
10
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. 61
28900662 2017
11
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. 61
27103078 2017
12
Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. 61
28092268 2017
13
Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. 61
27841240 2016
14
Atypical psychotic symptoms and Dandy-Walker variant. 61
27662527 2016
15
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 61
26714646 2015
16
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 61
26477546 2015
17
Clival encephalocele and 5q15 deletion: a case report. 61
24762864 2015
18
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. 61
25668516 2015
19
A forward genetic screen in mice identifies mutants with abnormal cortical patterning. 61
23968836 2015
20
Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth. 61
25513817 2014
21
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. 61
24045845 2014
22
Anesthesia for a child with Walker-Warburg syndrome. 61
24794457 2014
23
Long-term developmental outcome of children with a fetal diagnosis of isolated inferior vermian hypoplasia. 61
23964086 2014
24
Cerebellar Malformation: Deficits in early neural tube identity found in CHARGE syndrome. 61
24368735 2013
25
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis. 61
24167461 2013
26
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. 61
23517570 2013
27
Congenital ataxia due to cerebellar malformation presenting with unilateral hypoplasia. 61
23563724 2013
28
Unilateral cerebellar hypoplasia and mesencephalic malformation in a Hanoverian foal. 61
23608891 2013
29
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. 61
22965664 2012
30
Regional cerebellar volumes predict functional outcome in children with cerebellar malformations. 61
21901523 2012
31
Motor sequence learning in children with spina bifida. 61
23066938 2012
32
Neuroimaging of Dandy-Walker malformation: new concepts. 61
24132069 2011
33
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family. 61
21796728 2011
34
Deregulation of the p57-E2F1-p53 axis results in nonobstructive hydrocephalus and cerebellar malformation in mice. 61
21844226 2011
35
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion. 61
21484435 2011
36
Partial rhombencephalosynapsis: prenatal MR imaging diagnosis and postnatal follow up. 61
21748940 2011
37
In vitro study on human cytomegalovirus affecting early pregnancy villous EVT's invasion function. 61
21392403 2011
38
Clinical expression of an inherited unbalanced translocation in chromosome 6. 61
23074675 2011
39
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient. 61
21204220 2011
40
Cochlear implantation in pontine tegmental cap dysplasia. 61
20627414 2010
41
Intracranial irregularities beside hydrocephalus in H-Tx rats. 61
19812933 2010
42
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. 61
19906870 2009
43
Looking at cerebellar malformations through text-mined interactomes of mice and humans. 61
19893633 2009
44
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. 61
19668217 2009
45
Malformations of the midbrain and hindbrain: a retrospective study and review of the literature. 61
19337779 2009
46
Normal and abnormal anatomy of the cerebellar vermis in midgestational human fetuses. 61
19441098 2009
47
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. 61
19057916 2009
48
Cognitive outcome in children with rhombencephalosynapsis. 61
18407532 2009
49
Genetic background conversion ameliorates semi-lethality and permits behavioral analyses in cystathionine beta-synthase-deficient mice, an animal model for hyperhomocysteinemia. 61
18364386 2008
50
Differential activation of mononuclear phagocytes in cerebellar malformation associated with Walker-Warburg syndrome. 61
18069971 2008

Variations for Cerebellar Malformation

ClinVar genetic disease variations for Cerebellar Malformation:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
2 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
3 AAR2 NM_001271874.2(AAR2):c.520G>A (p.Val174Met)SNV Likely pathogenic 242897 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 cytoplasmic vesicle membrane GO:0030659 8.62 TMEM67 TBC1D24

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 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
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