MCID: CRB045
MIFTS: 40

Cerebellar Hypoplasia

Categories: Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Cerebellar Hypoplasia

MalaCards integrated aliases for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 11 19 52 75 53 43 14

Classifications:



External Ids:

Disease Ontology 11 DOID:0070338
MeSH 43 C562568

Summaries for Cerebellar Hypoplasia

NINDS: 52 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.

MalaCards based summary: Cerebellar Hypoplasia is related to cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay and hoyeraal hreidarsson syndrome. 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. Affiliated tissues include cerebellum, eye and brain, and related phenotypes are Increased homologous recombination repair frequency and nervous system

GARD: 19 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.

Disease Ontology: 11 A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed.

Wikipedia: 75 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 448)
# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 32.7 PMM2 DKC1 CASK
2 hoyeraal hreidarsson syndrome 32.7 TINF2 RTEL1 DKC1
3 lissencephaly 7 with cerebellar hypoplasia 32.7 RELN PAFAH1B1 DCX CDK5
4 lissencephaly 2 32.5 VLDLR RELN PAFAH1B1 LRP8
5 revesz syndrome 31.9 TINF2 RTEL1 DKC1
6 dyskeratosis congenita, autosomal dominant 1 31.7 TINF2 DKC1
7 pontocerebellar hypoplasia 30.7 WDR81 VLDLR RELN EXOSC5 CASK
8 lissencephaly 1 30.5 RELN PAFAH1B1 DCX
9 lissencephaly 30.5 WDR73 VLDLR RELN PAFAH1B1 LRP8 DCX
10 microlissencephaly 30.3 WDR81 RELN PAFAH1B1
11 tubulinopathy 30.1 RELN PAFAH1B1
12 periventricular nodular heterotopia 29.9 VLDLR RELN PAFAH1B1 DCX
13 walker-warburg syndrome 29.8 RELN PMM2 GMPPB
14 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.8
15 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia 11.7
16 porencephaly, cerebellar hypoplasia, and internal malformations 11.6
17 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 11.6
18 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 11.6
19 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 11.6
20 ophn1 syndrome 11.6
21 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 11.5
22 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 11.5
23 cerebellar hypoplasia tapetoretinal degeneration 11.5
24 intellectual developmental disorder, x-linked, syndromic, billuart type 11.5
25 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 11.5
26 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 11.5
27 dyskeratosis congenita, x-linked 11.4
28 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 11.4
29 neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities 11.4
30 cimdag syndrome 11.4
31 isolated unilateral hemispheric cerebellar hypoplasia 11.4
32 lissencephaly with cerebellar hypoplasia type e 11.3
33 lissencephaly with cerebellar hypoplasia type a 11.3
34 lissencephaly with cerebellar hypoplasia type d 11.3
35 syndromic x-linked intellectual disability najm type 11.3
36 spinocerebellar ataxia, autosomal recessive 2 11.3
37 intellectual developmental disorder, x-linked, syndromic, 35 11.3
38 pontocerebellar hypoplasia, type 1c 11.3
39 isolated bilateral hemispheric cerebellar hypoplasia 11.3
40 lissencephaly with cerebellar hypoplasia type f 11.3
41 lissencephaly with cerebellar hypoplasia type b 11.3
42 lissencephaly with cerebellar hypoplasia type c 11.3
43 cerebellofaciodental syndrome 11.2
44 congenital disorder of glycosylation, type ia 11.2
45 gillespie syndrome 11.1
46 muscular dystrophy-dystroglycanopathy , type b, 14 11.1
47 cerebellar ataxia, brain abnormalities, and cardiac conduction defects 11.1
48 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 11.1
49 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 11.1
50 pancreatic and cerebellar agenesis 11.1

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 CASK CDK5 CEP55 DCX DKC1 EXOSC5
2 no effect GR00402-S-2 10.14 CASK CDK5 CEP55 DCX EXOSC5 OPHN1
3 Increased homologous recombination repair frequency GR00236-A-1 9.26 CEP55 EXOSC5
4 Increased homologous recombination repair frequency GR00236-A-2 9.26 CEP55 EXOSC5

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.24 CASK CDK5 CEP55 DCX LRP8 MAST1
2 growth/size/body region MP:0005378 10.13 CASK CEP55 DCX DKC1 LRP8 OPHN1
3 cellular MP:0005384 10.07 CASK CEP55 DKC1 LRP8 MAST1 PAFAH1B1
4 behavior/neurological MP:0005386 9.93 CASK CDK5 CEP55 DCX LRP8 OPHN1
5 reproductive system MP:0005389 9.65 CASK CEP55 DCX DKC1 LRP8 OPHN1
6 mortality/aging MP:0010768 9.58 CASK CDK5 CEP55 DCX DKC1 LRP8

Drugs & Therapeutics for Cerebellar Hypoplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Perinatal and Long-term Outcome of Newborns With an Isolated Small Transverse Cerebellar Diameter Completed NCT03572868

Search NIH Clinical Center for Cerebellar Hypoplasia

Cochrane evidence based reviews: cerebellar hypoplasia

Genetic Tests for Cerebellar Hypoplasia

Anatomical Context for Cerebellar Hypoplasia

Organs/tissues related to Cerebellar Hypoplasia:

MalaCards : Cerebellum, Eye, Brain, Pons, Fetal Brain, Cortex, Heart

Publications for Cerebellar Hypoplasia

Articles related to Cerebellar Hypoplasia:

(show top 50) (show all 1071)
# Title Authors PMID Year
1
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. 53 62
18364738 2008
2
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. 53 62
18512229 2008
3
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 53 62
18043714 2008
4
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. 53 62
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. 53 62
17728457 2007
6
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 53 62
17664403 2007
7
The role of RELN in lissencephaly and neuropsychiatric disease. 53 62
16958033 2007
8
Genetic malformations of cortical development. 53 62
16724181 2006
9
Pathogenesis of migration disorders. 53 62
16538086 2006
10
[Monogenic causes of X-linked mental retardation]. 53 62
16506132 2006
11
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. 53 62
16221952 2005
12
Neuronal migration disorders, genetics, and epileptogenesis. 53 62
15921228 2005
13
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. 53 62
12805098 2003
14
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. 53 62
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. 53 62
11815869 2002
16
Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. 53 62
11408330 2001
17
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 53 62
10973257 2000
18
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. 53 62
10583221 1999
19
Tubulin mutations in human neurodevelopmental disorders. 62
35915025 2023
20
Prenatal Diagnosis and Neurodevelopmental Outcome in Isolated Cerebellar Hypoplasia of Suspected Hemorrhagic Etiology: a Retrospective Cohort Study. 62
34799840 2022
21
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy. 62
36305856 2022
22
Intrauterine Zika virus infection: review of the current findings with emphasis in the prenatal and postnatal brain imaging diagnostic methods. 62
33781162 2022
23
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. 62
36403095 2022
24
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia. 62
36445597 2022
25
Spirocercosis and Parvovirus in an Imported Dog: Implications for Biosecurity and Foreign Infectious Disease Risk. 62
36371066 2022
26
Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features? 62
35801292 2022
27
Cerebellar Hypoplasia in Two Juvenile African Grey Parrots (Psittacus erithacus). 62
36468809 2022
28
Relationship of Impairments in Associative Learning With Intellectual Disability and Cerebellar Hypoplasia in Children With Autism. 62
36443015 2022
29
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia. 62
35896821 2022
30
Complete loss of the X-linked gene CASK causes severe cerebellar degeneration. 62
35149592 2022
31
Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders. 62
36168867 2022
32
Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report. 62
36379227 2022
33
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome. 62
36309505 2022
34
Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies. 62
35863218 2022
35
CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons. 62
36262316 2022
36
Abnormal vestibular brainstem structure and function in an animal model of autism spectrum disorder. 62
35985362 2022
37
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice. 62
36280881 2022
38
Fetal Unilateral Cerebellar Hypoplasia. 62
36352699 2022
39
Deletion of CHD8 in cerebellar granule neuron progenitors leads to severe cerebellar hypoplasia, ataxia, and psychiatric behavior in mice. 62
35231638 2022
40
Expanding the natural history of CASK-related disorders to the prenatal period. 62
36175354 2022
41
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. 62
35769015 2022
42
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. 62
35670295 2022
43
Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience. 62
36076253 2022
44
Hypothesis: By-products of vascular disruption carried in the CSF affect prenatal brain development. 62
35775635 2022
45
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations. 62
36048137 2022
46
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum. 62
35499143 2022
47
Severe cerebellar malformations in mutant mice demonstrate a role for PDGF-C/PDGFRα signalling in cerebellar development. 62
35876806 2022
48
PI4KA-Related Disorder 62
35951779 2022
49
Fetal Pontine Tegmental Cap Dysplasia- A Case Report. 62
36076676 2022
50
A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review. 62
36004024 2022

Variations for Cerebellar Hypoplasia

Copy number variations for Cerebellar Hypoplasia from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 260196 X 146900000 154913754 Copy number 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

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 axon GO:0030424 9.76 PAFAH1B1 OPHN1 MAST1 LRP8 CDK5
2 neuronal cell body GO:0043025 9.65 PMM2 PAFAH1B1 MAST1 LRP8 CDK5
3 microtubule associated complex GO:0005875 9.1 PAFAH1B1 LRP8 DCX

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neuron migration GO:0001764 10.08 RELN PAFAH1B1 DCX CDK5
2 modulation of chemical synaptic transmission GO:0050804 9.91 RELN PAFAH1B1 LRP8
3 positive regulation of protein kinase activity GO:0045860 9.91 CDK5 LRP8 RELN VLDLR
4 positive regulation of dendritic spine morphogenesis GO:0061003 9.88 RELN PAFAH1B1 LRP8
5 cerebral cortex development GO:0021987 9.83 RELN PAFAH1B1 LRP8 CDK5
6 interneuron migration GO:1904936 9.8 RELN PAFAH1B1
7 ventral spinal cord development GO:0021517 9.8 VLDLR RELN LRP8
8 dendrite morphogenesis GO:0048813 9.8 VLDLR LRP8 DCX CDK5
9 GDP-mannose biosynthetic process GO:0009298 9.76 PMM2 GMPPB
10 hippocampus development GO:0021766 9.76 CDK5 DCX LRP8 PAFAH1B1 RELN
11 reelin-mediated signaling pathway GO:0038026 9.56 VLDLR RELN PAFAH1B1 LRP8
12 layer formation in cerebral cortex GO:0021819 9.28 RELN PAFAH1B1 LRP8 DCX CDK5

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

# Name GO ID Score Top Affiliating Genes
1 very-low-density lipoprotein particle receptor activity GO:0030229 9.26 VLDLR LRP8
2 reelin receptor activity GO:0038025 8.92 VLDLR LRP8

Sources for Cerebellar Hypoplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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