MCID: CRB209
MIFTS: 22

Cerebellar Malformation

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Muscle 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 all 48)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 21 31.4 KATNIP CEP104
2 joubert syndrome 1 29.2 TMEM67 KATNIP CEP104
3 global cerebellar malformation 11.2
4 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 11.2
5 genetic syndrome with a cerebellar malformation as a major feature 11.0
6 genetic cerebellar malformation 11.0
7 syndrome with a cerebellar malformation as a major feature 11.0
8 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 11.0
9 gomez-lopez-hernandez syndrome 10.9
10 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 10.9
11 cerebellar hypoplasia tapetoretinal degeneration 10.9
12 joubert syndrome 25 10.1 KATNIP CEP104
13 joubert syndrome 26 10.1 KATNIP CEP104
14 hydrocephalus 10.1
15 rhombencephalosynapsis 10.0
16 joubert syndrome 8 10.0 TMEM67 KATNIP
17 apraxia 9.9 TMEM67 CEP104
18 ciliopathy 9.9 TMEM67 KATNIP
19 senior-loken syndrome 1 9.9 TMEM67 CEP104
20 short-rib thoracic dysplasia 1 with or without polydactyly 9.8 TMEM67 KATNIP CEP104
21 visceral heterotaxy 9.8 ZIC4 TMEM67
22 retinoblastoma 9.8
23 charge syndrome 9.8
24 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.8
25 abnormal hair, joint laxity, and developmental delay 9.8
26 corpus callosum, partial agenesis of, x-linked 9.8
27 ataxia and polyneuropathy, adult-onset 9.8
28 myoclonic epilepsy, familial infantile 9.8
29 alacrima, achalasia, and mental retardation syndrome 9.8
30 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.8
31 west syndrome 9.8
32 lissencephaly 9.8
33 walker-warburg syndrome 9.8
34 lennox-gastaut syndrome 9.8
35 autosomal recessive disease 9.8
36 tubulinopathy 9.8
37 obstructive hydrocephalus 9.8
38 epilepsy 9.8
39 hyperostosis 9.8
40 focal epilepsy 9.8
41 early myoclonic encephalopathy 9.8
42 pathologic nystagmus 9.8
43 muscular dystrophy 9.8
44 polymicrogyria 9.8
45 tbc1d24-related disorders 9.8
46 chromosomal triplication 9.8
47 hypotonia 9.8
48 asphyxiating thoracic dystrophy 9.7 TMEM67 CEP104

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 109)
# Title Authors PMID Year
1
Normal intellectual skills in patients with Rhombencephalosynapsis. 61
33046393 2020
2
The spectrum of brain malformations and disruptions in twins. 61
33205886 2020
3
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2020
4
Chiari Malformation and Attention Deficit Hyperactivity Disorder. 61
33029147 2020
5
Peroxisome Deficiency Impairs BDNF Signaling and Memory. 61
33163488 2020
6
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
7
Developmental outcomes in children with congenital cerebellar malformations. 61
30320441 2019
8
Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings. 61
30819232 2019
9
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. 61
30580482 2018
10
Development of a Psychiatric Disorder Linked to Cerebellar Lesions. 61
29460204 2018
11
Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850). 61
29334628 2018
12
Vertical Transmission of the Zika Virus Causes Neurological Disorders in Mouse Offspring. 61
29476066 2018
13
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. 61
28677066 2017
14
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. 61
28900662 2017
15
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. 61
27103078 2017
16
Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. 61
28092268 2017
17
Rhombencephalosynapsis: A rare cerebellar malformation associated with aqueductal stenosis and obstructive hydrocephalus. 61
27841240 2016
18
Atypical psychotic symptoms and Dandy-Walker variant. 61
27662527 2016
19
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 61
26714646 2015
20
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 61
26477546 2015
21
Clival encephalocele and 5q15 deletion: a case report. 61
24762864 2015
22
A forward genetic screen in mice identifies mutants with abnormal cortical patterning. 61
23968836 2015
23
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
24
Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth. 61
25513817 2014
25
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. 61
24045845 2014
26
Anesthesia for a child with Walker-Warburg syndrome. 61
24794457 2014
27
Long-term developmental outcome of children with a fetal diagnosis of isolated inferior vermian hypoplasia. 61
23964086 2014
28
Cerebellar Malformation: Deficits in early neural tube identity found in CHARGE syndrome. 61
24368735 2013
29
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis. 61
24167461 2013
30
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. 61
23517570 2013
31
Congenital ataxia due to cerebellar malformation presenting with unilateral hypoplasia. 61
23563724 2013
32
Unilateral cerebellar hypoplasia and mesencephalic malformation in a Hanoverian foal. 61
23608891 2013
33
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. 61
22965664 2012
34
Regional cerebellar volumes predict functional outcome in children with cerebellar malformations. 61
21901523 2012
35
Motor sequence learning in children with spina bifida. 61
23066938 2012
36
Neuroimaging of Dandy-Walker malformation: new concepts. 61
24132069 2011
37
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
38
Deregulation of the p57-E2F1-p53 axis results in nonobstructive hydrocephalus and cerebellar malformation in mice. 61
21844226 2011
39
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
40
Partial rhombencephalosynapsis: prenatal MR imaging diagnosis and postnatal follow up. 61
21748940 2011
41
In vitro study on human cytomegalovirus affecting early pregnancy villous EVT's invasion function. 61
21392403 2011
42
Clinical expression of an inherited unbalanced translocation in chromosome 6. 61
23074675 2011
43
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient. 61
21204220 2011
44
Cochlear implantation in pontine tegmental cap dysplasia. 61
20627414 2010
45
Intracranial irregularities beside hydrocephalus in H-Tx rats. 61
19812933 2010
46
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. 61
19906870 2009
47
Looking at cerebellar malformations through text-mined interactomes of mice and humans. 61
19893633 2009
48
Malformations of the midbrain and hindbrain: a retrospective study and review of the literature. 61
19337779 2009
49
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. 61
19668217 2009
50
Normal and abnormal anatomy of the cerebellar vermis in midgestational human fetuses. 61
19441098 2009

Variations for Cerebellar Malformation

ClinVar genetic disease variations for Cerebellar Malformation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AAR2 NM_001271874.2(AAR2):c.520G>A (p.Val174Met) SNV Likely pathogenic 242897 rs746800707 GRCh37: 20:34828310-34828310
GRCh38: 20:36240388-36240388
2 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) SNV Likely pathogenic 217725 rs752362727 GRCh37: 8:94798483-94798483
GRCh38: 8:93786255-93786255
3 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Likely pathogenic 1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970

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 8.96 TMEM67 TBC1D24
2 cell projection GO:0042995 8.92 TMEM67 TBC1D24 KATNIP CEP104

Sources for Cerebellar Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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