MCID: CRB045
MIFTS: 41

Cerebellar Hypoplasia

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

Aliases & Classifications for Cerebellar Hypoplasia

MalaCards integrated aliases for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 12 74 52 53 54 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0070338

Summaries for Cerebellar Hypoplasia

NIH Rare Diseases : 52 Cerebellar hypoplasia is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. It may occur with a variety of congenital syndromes , metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has. The most common findings are developmental and speech delay, poor muscle tone (hypotonia ), ataxia and abnormal ocular (eye) movements. Cerebellar hypoplasia may range from mild or partial underdevelopment to complete absence (agenesis). It may affect only the cerebellum, or also affect other central nervous system structures. The inheritance pattern may differ depending on the underlying cause of the condition. Treatment is generally symptomatic and supportive and depends upon the underlying disorder and the severity of symptoms.

MalaCards based summary : Cerebellar Hypoplasia is related to cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay and lissencephaly with cerebellar hypoplasia. An important gene associated with Cerebellar Hypoplasia is OPHN1 (Oligophrenin 1), and among its related pathways/superpathways are Neuroscience and Guidance Cues and Growth Cone Motility. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and eye, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.

NINDS : 53 Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.  Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia.   In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes.  In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.

Wikipedia : 74 Cerebellar hypoplasia is characterized by reduced cerebellar volume, even though cerebellar shape is... more...

Related Diseases for Cerebellar Hypoplasia

Diseases in the Cerebellar Hypoplasia family:

Cerebellar Malformation

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

(show top 50) (show all 365)
# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 34.4 PMM2 OXR1 ATAD3A
2 lissencephaly with cerebellar hypoplasia 33.9 VLDLR RELN PAFAH1B1 DCX CDK5
3 lissencephaly 2 32.3 VLDLR TUBA1A RELN PAFAH1B1
4 lissencephaly 31.5 WDR73 VLDLR TUBA1A RELN PAFAH1B1 DCX
5 pontocerebellar hypoplasia 30.5 VLDLR CASK ATAD3A
6 pachygyria 30.4 TUBA1A PAFAH1B1
7 lissencephaly 1 30.2 RELN PAFAH1B1 DCX
8 microlissencephaly 30.1 WDR81 TUBA1A
9 walker-warburg syndrome 29.7 TUBA1A RELN PMM2 PAFAH1B1
10 neuronal migration disorders 29.7 TUBA1A RELN PAFAH1B1 DCX
11 cerebellar disease 29.5 VLDLR TUBA1A RELN PAFAH1B1 OPHN1
12 periventricular nodular heterotopia 29.2 VLDLR TUBA1A RELN PAFAH1B1 INTS8 DCX
13 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.7
14 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.7
15 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 12.7
16 lissencephaly 7 with cerebellar hypoplasia 12.6
17 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.6
18 cerebellar hypoplasia with endosteal sclerosis 12.6
19 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.6
20 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.6
21 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 12.5
22 porencephaly, cerebellar hypoplasia, and internal malformations 12.4
23 cerebellar hypoplasia tapetoretinal degeneration 12.4
24 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 12.4
25 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 12.4
26 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.3
27 isolated unilateral hemispheric cerebellar hypoplasia 12.3
28 cerebral calcification cerebellar hypoplasia 12.2
29 isolated bilateral hemispheric cerebellar hypoplasia 12.2
30 lissencephaly with cerebellar hypoplasia type f 12.2
31 lissencephaly with cerebellar hypoplasia type e 12.2
32 lissencephaly with cerebellar hypoplasia type b 12.2
33 lissencephaly with cerebellar hypoplasia type a 12.2
34 lissencephaly with cerebellar hypoplasia type d 12.2
35 lissencephaly with cerebellar hypoplasia type c 12.2
36 hoyeraal hreidarsson syndrome 12.2
37 dyskeratosis congenita, x-linked 12.1
38 pontocerebellar hypoplasia, type 1c 11.9
39 spinocerebellar ataxia, autosomal recessive 2 11.7
40 x-linked intellectual disability, najm type 11.7
41 gillespie syndrome 11.6
42 congenital disorder of glycosylation, type ia 11.6
43 mental retardation, x-linked, syndromic, 35 11.5
44 pancreatic and cerebellar agenesis 11.5
45 spondylometaphyseal dysplasia, sedaghatian type 11.5
46 muscular dystrophy-dystroglycanopathy , type b, 14 11.5
47 ophn1 syndrome 11.4
48 alkuraya-kucinskas syndrome 11.4
49 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 11.4
50 ritscher-schinzel syndrome 1 11.4

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



Diseases related to Cerebellar Hypoplasia

Symptoms & Phenotypes for Cerebellar Hypoplasia

GenomeRNAi Phenotypes related to Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.84 PI4KA VLDLR
2 Decreased viability GR00154-A 9.84 CDK5
3 Decreased viability GR00221-A-1 9.84 DKC1 MAST1
4 Decreased viability GR00221-A-2 9.84 DKC1
5 Decreased viability GR00221-A-3 9.84 MAST1
6 Decreased viability GR00221-A-4 9.84 CDK5 DKC1 MAST1 WNT1
7 Decreased viability GR00231-A 9.84 PI4KA
8 Decreased viability GR00240-S-1 9.84 POLR3B WDR81
9 Decreased viability GR00249-S 9.84 CDK5 DKC1 MAST1 PI4KA TUBA1A WNT1
10 Decreased viability GR00301-A 9.84 DKC1 WNT1
11 Decreased viability GR00342-S-2 9.84 CASK
12 Decreased viability GR00386-A-1 9.84 CASK POLR3B TUBA1A WNT1
13 Decreased viability GR00402-S-2 9.84 ATAD3A DKC1 MAST1 PI4KA POLR3B VLDLR

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 ATAD3A CASK CDK5 DCX OPHN1 OXR1
2 cellular MP:0005384 10.07 ATAD3A CASK DKC1 MAST1 OXR1 PAFAH1B1
3 growth/size/body region MP:0005378 9.97 ATAD3A CASK DCX DKC1 OPHN1 PAFAH1B1
4 mortality/aging MP:0010768 9.86 ATAD3A CASK CDK5 DCX DKC1 MAST1
5 nervous system MP:0003631 9.44 CASK CDK5 DCX MAST1 OPHN1 OXR1

Drugs & Therapeutics for Cerebellar Hypoplasia

Drugs for Cerebellar Hypoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Human Epilepsy Genetics--Neuronal Migration Disorders Study Unknown status NCT00041600
2 Perinatal and Long-term Outcome of Newborns With an Isolated Small Transverse Cerebellar Diameter Completed NCT03572868
3 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224

Search NIH Clinical Center for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

Anatomical Context for Cerebellar Hypoplasia

MalaCards organs/tissues related to Cerebellar Hypoplasia:

40
Cerebellum, Brain, Eye, Liver, Bone, Cortex, Heart

Publications for Cerebellar Hypoplasia

Articles related to Cerebellar Hypoplasia:

(show top 50) (show all 946)
# Title Authors PMID Year
1
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. 54 61
18364738 2008
2
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. 61 54
18512229 2008
3
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 61 54
18043714 2008
4
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. 54 61
17694350 2007
5
Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. 54 61
17728457 2007
6
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 54 61
17664403 2007
7
The role of RELN in lissencephaly and neuropsychiatric disease. 54 61
16958033 2007
8
Genetic malformations of cortical development. 61 54
16724181 2006
9
Pathogenesis of migration disorders. 54 61
16538086 2006
10
[Monogenic causes of X-linked mental retardation]. 54 61
16506132 2006
11
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. 61 54
16221952 2005
12
Neuronal migration disorders, genetics, and epileptogenesis. 61 54
15921228 2005
13
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. 54 61
12805098 2003
14
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. 54 61
12807966 2003
15
Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy. 61 54
11815869 2002
16
Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. 54 61
11408330 2001
17
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 54 61
10973257 2000
18
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. 54 61
10583221 1999
19
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways. 61
32305418 2020
20
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. 61
32198973 2020
21
Prediction of Neurodevelopmental Impairment in Congenital Cytomegalovirus Infection by Early Postnatal Magnetic Resonance Imaging. 61
32492677 2020
22
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. 61
32519519 2020
23
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. 61
32504085 2020
24
Cerebellar hypoplasia and dysplasia in a juvenile raccoon with parvoviral infection. 61
32404029 2020
25
Neuropathogenicity of newly isolated avian leukosis viruses from chickens with osteopetrosis and mesenchymal neoplasms. 61
32301629 2020
26
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. 61
32162493 2020
27
Loss of CPAP in developing mouse brain and its functional implication in human primary microcephaly. 61
32501282 2020
28
CD8+ T-cell senescence and skewed lymphocyte subsets in young Dyskeratosis Congenita patients with PARN and DKC1 mutations. 61
32452087 2020
29
Expanding the spectrum of CEP55-associated disease to viable phenotypes. 61
32100459 2020
30
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. 61
31689548 2020
31
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. 61
32293553 2020
32
The Neuropathology of MIRAGE Syndrome. 61
32106287 2020
33
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2020
34
[Two cases with lissencephaly associated cerebellar hypoplasia related to RELN variation]. 61
32135599 2020
35
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. 61
31693170 2020
36
Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system. 61
31944002 2020
37
Luckenschadel Associated with Chiari Type II Malformation: An Autopsy Case Report. 61
32096430 2020
38
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. 61
32004446 2020
39
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
40
Expanded PCH1D phenotype linked to EXOSC9 mutation. 61
30690203 2020
41
CNS manifestations in patients with telomere biology disorders. 61
31872047 2019
42
Zika virus infection: A correlation between prenatal ultrasonographic and postmortem neuropathologic changes. 61
31710135 2019
43
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. 61
31727539 2019
44
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
45
The Reeler Mouse: A Translational Model of Human Neurological Conditions, or Simply a Good Tool for Better Understanding Neurodevelopment? 61
31805691 2019
46
Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome. 61
31649160 2019
47
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
48
Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model. 61
31441071 2019
49
Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation. 61
31365163 2019
50
GSK-3 modulates SHH-driven proliferation in postnatal cerebellar neurogenesis and medulloblastoma. 61
31540917 2019

Variations for Cerebellar Hypoplasia

Copy number variations for Cerebellar Hypoplasia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 260196 X 146900000 154913754 Copy number DCK1 Cerebellar hypoplasia
2 260199 X 146900000 154913754 Copy number FLNA Cerebellar hypoplasia
3 261704 X 24900000 37500000 Copy number ARX Cerebellar hypoplasia
4 262553 X 37500000 42300000 Copy number CASK Cerebellar hypoplasia
5 262842 X 41374190 41782287 Copy number CASK Cerebellar hypoplasia
6 264428 X 65100000 67700000 Copy number OPHN1 Cerebellar hypoplasia
7 266515 X 98200000 110500000 Copy number DCX Cerebellar hypoplasia

Expression for Cerebellar Hypoplasia

Search GEO for disease gene expression data for Cerebellar Hypoplasia.

Pathways for Cerebellar Hypoplasia

Pathways related to Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.19 PAFAH1B1 OPHN1 DCX CDK5 CASK
2 11.57 VLDLR RELN CDK5
3 11.46 WNT1 VLDLR RELN CDK5
4 10.72 VLDLR RELN PAFAH1B1 CDK5
5 10.51 VLDLR RELN PAFAH1B1 DCX CDK5

GO Terms for Cerebellar Hypoplasia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.5 WNT1 WDR81 WDR73 WDR37 TUBA1A RELN
2 microtubule GO:0005874 9.46 TUBA1A PAFAH1B1 DCX CDK5
3 neuron projection GO:0043005 9.35 RELN PAFAH1B1 MAST1 DCX CDK5

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.85 VLDLR PAFAH1B1 OPHN1 DCX CDK5
2 brain development GO:0007420 9.78 RELN PAFAH1B1 MAST1 DCX
3 microtubule cytoskeleton organization GO:0000226 9.74 TUBA1A PAFAH1B1 CDK5
4 mitochondrion organization GO:0007005 9.67 WDR81 CDK5 ATAD3A
5 cerebral cortex development GO:0021987 9.61 RELN PAFAH1B1 CDK5
6 positive regulation of protein kinase activity GO:0045860 9.58 VLDLR RELN CDK5
7 calcium ion import GO:0070509 9.56 CDK5 CASK
8 positive regulation of dendritic spine morphogenesis GO:0061003 9.55 RELN PAFAH1B1
9 negative regulation of oxidative stress-induced neuron death GO:1903204 9.54 WNT1 OXR1
10 cerebral cortex neuron differentiation GO:0021895 9.52 PAFAH1B1 OPHN1
11 protein localization to synapse GO:0035418 9.51 RELN CDK5
12 neuron migration GO:0001764 9.46 RELN PAFAH1B1 DCX CDK5
13 dendrite morphogenesis GO:0048813 9.43 VLDLR DCX CDK5
14 reelin-mediated signaling pathway GO:0038026 9.37 VLDLR RELN
15 ventral spinal cord development GO:0021517 9.32 VLDLR RELN
16 hippocampus development GO:0021766 9.26 RELN PAFAH1B1 DCX CDK5
17 layer formation in cerebral cortex GO:0021819 8.92 RELN PAFAH1B1 DCX CDK5

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.92 PAFAH1B1 MAST1 DCX CDK5

Sources for Cerebellar Hypoplasia

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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