MCID: CRB045
MIFTS: 37

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 52 53 54

Classifications:



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 ataxia, mental retardation, and dysequilibrium syndrome 1 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 Reelin Pathway (Cajal-Retzius cells). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include cerebellum, brain and eye, and related phenotypes are behavior/neurological and cellular

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 360)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 33.5 WDR81 VLDLR
2 lissencephaly with cerebellar hypoplasia 32.9 VLDLR RELN PAFAH1B1 CDK5
3 lissencephaly 2 31.9 VLDLR RELN PAFAH1B1
4 cerebellar ataxia, mental retardation and dysequlibrium syndrome 31.5 WDR81 VLDLR
5 lissencephaly 31.2 VLDLR RELN PAFAH1B1 CDK5
6 pontocerebellar hypoplasia, type 1a 29.8 VLDLR OPHN1
7 neuronal migration disorders 29.7 RELN PAFAH1B1
8 lissencephaly 1 29.7 RELN PAFAH1B1
9 hydranencephaly 29.5 WDR81 PAFAH1B1
10 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.7
11 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.7
12 lissencephaly 7 with cerebellar hypoplasia 12.6
13 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.6
14 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 12.6
15 cerebellar hypoplasia with endosteal sclerosis 12.6
16 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.6
17 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 12.6
18 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.6
19 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 12.5
20 cerebellar hypoplasia tapetoretinal degeneration 12.4
21 porencephaly, cerebellar hypoplasia, and internal malformations 12.4
22 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 12.4
23 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.3
24 isolated unilateral hemispheric cerebellar hypoplasia 12.2
25 cerebral calcification cerebellar hypoplasia 12.2
26 isolated bilateral hemispheric cerebellar hypoplasia 12.2
27 lissencephaly with cerebellar hypoplasia type f 12.2
28 lissencephaly with cerebellar hypoplasia type e 12.2
29 lissencephaly with cerebellar hypoplasia type b 12.2
30 lissencephaly with cerebellar hypoplasia type a 12.2
31 lissencephaly with cerebellar hypoplasia type d 12.2
32 lissencephaly with cerebellar hypoplasia type c 12.2
33 hoyeraal hreidarsson syndrome 12.1
34 dyskeratosis congenita, x-linked 12.1
35 pontocerebellar hypoplasia, type 1c 11.9
36 spinocerebellar ataxia, autosomal recessive 2 11.7
37 x-linked intellectual disability, najm type 11.7
38 gillespie syndrome 11.6
39 congenital disorder of glycosylation, type ia 11.6
40 cask-related disorders 11.5
41 spondylometaphyseal dysplasia, sedaghatian type 11.5
42 muscular dystrophy-dystroglycanopathy , type b, 14 11.5
43 mental retardation, x-linked, syndromic, 35 11.5
44 pancreatic and cerebellar agenesis 11.5
45 ophn1 syndrome 11.4
46 alkuraya-kucinskas syndrome 11.4
47 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 11.4
48 ritscher-schinzel syndrome 1 11.4
49 chiari malformation 11.4
50 otopalatodigital syndrome, type ii 11.4

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



Diseases related to Cerebellar Hypoplasia

Symptoms & Phenotypes for Cerebellar Hypoplasia

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 CASK CDK5 OPHN1 PAFAH1B1 PI4KA RELN
2 cellular MP:0005384 9.92 CASK DKC1 MAST1 PAFAH1B1 PI4KA RELN
3 growth/size/body region MP:0005378 9.86 CASK DKC1 OPHN1 PAFAH1B1 PI4KA RELN
4 integument MP:0010771 9.7 CASK CDK5 DKC1 OPHN1 PI4KA RELN
5 mortality/aging MP:0010768 9.65 CASK CDK5 DKC1 MAST1 OPHN1 PAFAH1B1
6 nervous system MP:0003631 9.23 CASK CDK5 MAST1 OPHN1 PAFAH1B1 RELN

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, Heart, Bone, Liver, Cortex

Publications for Cerebellar Hypoplasia

Articles related to Cerebellar Hypoplasia:

(show top 50) (show all 930)
# 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. 54 61
18512229 2008
3
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 54 61
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. 54 61
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. 54 61
16221952 2005
12
Neuronal migration disorders, genetics, and epileptogenesis. 54 61
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. 54 61
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
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. 61
32004446 2020
20
Expanded PCH1D phenotype linked to EXOSC9 mutation. 61
30690203 2020
21
Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system. 61
31944002 2020
22
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel. 61
31493945 2020
23
CNS manifestations in patients with telomere biology disorders. 61
31872047 2019
24
Zika virus infection: A correlation between prenatal ultrasonographic and postmortem neuropathologic changes. 61
31710135 2019
25
Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome. 61
31649160 2019
26
The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies. 61
31794996 2019
27
The Reeler Mouse: A Translational Model of Human Neurological Conditions, or Simply a Good Tool for Better Understanding Neurodevelopment? 61
31805691 2019
28
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. 61
31727539 2019
29
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. 61
31770597 2019
30
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8. 61
31693170 2019
31
Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity. 61
31352912 2019
32
Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model. 61
31441071 2019
33
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. 61
31689548 2019
34
Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation. 61
31365163 2019
35
GSK-3 modulates SHH-driven proliferation in postnatal cerebellar neurogenesis and medulloblastoma. 61
31540917 2019
36
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. 61
31495489 2019
37
Unilateral Cerebellar Hypoplasia: A Rare Cause of Childhood Seizures. 61
31908668 2019
38
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 61
31491411 2019
39
Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report. 61
31553256 2019
40
Redefining the Etiologic Landscape of Cerebellar Malformations. 61
31474318 2019
41
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. 61
31327508 2019
42
The ratio of cavum septi pellucidi width to anteroposterior cerebellar diameter: A novel index as a diagnostic adjunct for prenatal diagnosis of trisomy 18. 61
30932268 2019
43
Lymphoplasmacytic Meningoencephalitis and Neuronal Necrosis Associated With Parvoviral Infection in Cats. 61
30917745 2019
44
Association Between Neonatal Neuroimaging and Clinical Outcomes in Zika-Exposed Infants From Rio de Janeiro, Brazil. 61
31365112 2019
45
Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation. 61
31269755 2019
46
Deletion of the α subunit of the heterotrimeric Go protein impairs cerebellar cortical development in mice. 61
31221179 2019
47
Huppke-Brendel Syndrome 61
31194315 2019
48
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). 61
30487245 2019
49
WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts. 61
30692598 2019
50
Lissencephaly, cerebellar hypoplasia, and extrahepatic biliary atresia: An unusual association. 61
31047729 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 11.99 PAFAH1B1 OPHN1 CDK5 CASK
2 11.5 VLDLR RELN CDK5
3 11.5 VLDLR RELN CDK5
4 10.75 VLDLR RELN PAFAH1B1 CDK5
5 10.39 VLDLR RELN PAFAH1B1 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 9.91 WDR81 RELN PI4KA PAFAH1B1 OPHN1 MAST1
2 synapse GO:0045202 9.62 PAFAH1B1 OPHN1 CDK5 CASK
3 dendrite GO:0030425 9.46 RELN OPHN1 MAST1 CDK5
4 neuron projection GO:0043005 9.26 RELN PAFAH1B1 MAST1 CDK5
5 axon GO:0030424 8.92 PAFAH1B1 OPHN1 MAST1 CDK5

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.87 PI4KA MAST1 CDK5 CASK
2 nervous system development GO:0007399 9.81 VLDLR PAFAH1B1 OPHN1 CDK5
3 brain development GO:0007420 9.77 RELN PAFAH1B1 MAST1
4 cell migration GO:0016477 9.73 RELN PAFAH1B1 CDK5
5 axon guidance GO:0007411 9.72 VLDLR RELN OPHN1
6 synaptic vesicle endocytosis GO:0048488 9.58 OPHN1 CDK5
7 dendrite morphogenesis GO:0048813 9.58 VLDLR CDK5
8 neuron migration GO:0001764 9.58 RELN PAFAH1B1 CDK5
9 regulation of synaptic transmission, glutamatergic GO:0051966 9.54 OPHN1 CDK5
10 associative learning GO:0008306 9.52 RELN CDK5
11 calcium ion import GO:0070509 9.49 CDK5 CASK
12 positive regulation of dendritic spine morphogenesis GO:0061003 9.48 RELN PAFAH1B1
13 cerebral cortex neuron differentiation GO:0021895 9.46 PAFAH1B1 OPHN1
14 protein localization to synapse GO:0035418 9.43 RELN CDK5
15 cerebral cortex development GO:0021987 9.43 RELN PAFAH1B1 CDK5
16 reelin-mediated signaling pathway GO:0038026 9.37 VLDLR RELN
17 hippocampus development GO:0021766 9.33 RELN PAFAH1B1 CDK5
18 ventral spinal cord development GO:0021517 9.32 VLDLR RELN
19 positive regulation of protein kinase activity GO:0045860 9.13 VLDLR RELN CDK5
20 layer formation in cerebral cortex GO:0021819 8.8 RELN PAFAH1B1 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 9.13 PAFAH1B1 MAST1 CDK5
2 kinase activity GO:0016301 8.92 PI4KA MAST1 CDK5 CASK

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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