MCID: CRB045
MIFTS: 50

Cerebellar Hypoplasia

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Cerebellar Hypoplasia

MalaCards integrated aliases for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 54 50 24 51 29 52
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
cerebellar hypoplasia-tapetoretinal degeneration syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
cerebellar hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebellar Hypoplasia

NIH Rare Diseases : 50 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 congenitalsyndromes, 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. last updated: 10/26/2015

MalaCards based summary : Cerebellar Hypoplasia, also known as cerebellar hypoplasia-tapetoretinal degeneration syndrome, is related to otopalatodigital syndrome, type ii and mental retardation and microcephaly with pontine and cerebellar hypoplasia, and has symptoms including visual impairment, optic atrophy and nystagmus. An important gene associated with Cerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways are Neuroscience and Lissencephaly gene (LIS1) in neuronal migration and development. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include cerebellum, eye and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

NINDS : 51 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 : 72 Cerebellar hypoplasia is a heterogeneous group of disorder of cerebellar maldevelopment presenting as... more...

Description from OMIM: 213000

Related Diseases for Cerebellar Hypoplasia

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

(show top 50) (show all 154)
id Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type ii 29.9 PAFAH1B1 RELN
2 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.3
3 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 12.2
4 cerebellar hypoplasia with endosteal sclerosis 12.2
5 lissencephaly with cerebellar hypoplasia 12.1
6 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.1
7 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.1
8 lissencephaly 7 with cerebellar hypoplasia 12.1
9 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.1
10 porencephaly, cerebellar hypoplasia, and internal malformations 12.0
11 isolated bilateral hemispheric cerebellar hypoplasia 11.8
12 isolated unilateral hemispheric cerebellar hypoplasia 11.8
13 x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 11.8
14 cerebellar hypoplasia tapetoretinal degeneration 11.8
15 cerebral calcification cerebellar hypoplasia 11.8
16 thrombocytopenia cerebellar hypoplasia short stature 11.8
17 lissencephaly with cerebellar hypoplasia type f 11.8
18 lissencephaly with cerebellar hypoplasia type e 11.8
19 lissencephaly with cerebellar hypoplasia type b 11.8
20 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 11.8
21 lissencephaly with cerebellar hypoplasia type a 11.8
22 lissencephaly with cerebellar hypoplasia type d 11.8
23 lissencephaly with cerebellar hypoplasia type c 11.8
24 isolated cerebellar hypoplasia/agenesis 11.8
25 dyskeratosis congenita, x-linked 11.5
26 dyskeratosis congenita 11.3
27 lissencephaly 11.1
28 x-linked intellectual disability, najm type 11.1
29 ophn1 syndrome 11.0
30 spinocerebellar ataxia, autosomal recessive 2 10.9
31 muscular dystrophy-dystroglycanopathy , type b, 14 10.8
32 dyskeratosis congenita, autosomal recessive 5 10.8
33 cask-related disorders 10.8
34 mental retardation, autosomal recessive 53 10.8
35 coach syndrome 10.8
36 revesz syndrome 10.8
37 cerebellofaciodental syndrome 10.8
38 congenital disorder of glycosylation, type ia 10.8
39 joubert syndrome 26 10.8
40 neu-laxova syndrome 1 10.8
41 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 10.8
42 gillespie syndrome 10.8
43 spinocerebellar ataxia, autosomal recessive 20 10.8
44 lissencephaly 2 10.8
45 jung wolff back stahl syndrome 10.8
46 pancreatic and cerebellar agenesis 10.8
47 short-rib thoracic dysplasia 3 with or without polydactyly 10.7
48 spondylometaphyseal dysplasia, sedaghatian type 10.7
49 dyskeratosis congenita, autosomal dominant 1 10.7
50 microcephaly 17, primary, autosomal recessive 10.7

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



Diseases related to Cerebellar Hypoplasia

Symptoms & Phenotypes for Cerebellar Hypoplasia

Symptoms via clinical synopsis from OMIM:

54

Neuro:
hypotonia
ataxia
tremor
cerebellar hypoplasia

Eyes:
nystagmus


Clinical features from OMIM:

213000

Human phenotypes related to Cerebellar Hypoplasia:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 optic atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000648
3 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
4 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
6 cerebellar hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001321
7 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
8 abnormal electroretinogram 56 32 hallmark (90%) Very frequent (99-80%) HP:0000512
9 abnormality of retinal pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007703
10 tremor 32 HP:0001337

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.62 PAFAH1B1 PI4KA DKC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.62 DKC1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.62 PAFAH1B1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.62 DKC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.62 DKC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.62 DKC1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.62 PAFAH1B1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 DKC1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.62 DKC1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.62 PI4KA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.62 DKC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.62 DKC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.62 DKC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.62 DKC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.62 PI4KA
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.62 PI4KA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.62 DKC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 PI4KA

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CASK OPHN1 PAFAH1B1 PI4KA RELN VLDLR
2 growth/size/body region MP:0005378 9.8 CASK DKC1 OPHN1 PAFAH1B1 PI4KA RELN
3 integument MP:0010771 9.55 CASK DKC1 OPHN1 PI4KA RELN
4 mortality/aging MP:0010768 9.5 PI4KA RELN VLDLR CASK DKC1 OPHN1
5 reproductive system MP:0005389 9.02 CASK DKC1 OPHN1 PAFAH1B1 RELN

Drugs & Therapeutics for Cerebellar Hypoplasia

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


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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
2 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224

Search NIH Clinical Center for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

Genetic tests related to Cerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Cerebellar Hypoplasia 29 24

Anatomical Context for Cerebellar Hypoplasia

MalaCards organs/tissues related to Cerebellar Hypoplasia:

39
Cerebellum, Eye, Brain, Liver, Heart, Tongue, Fetal Brain

Publications for Cerebellar Hypoplasia

Articles related to Cerebellar Hypoplasia:

(show top 50) (show all 253)
id Title Authors Year
1
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. ( 27983999 )
2017
2
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). ( 28783747 )
2017
3
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. ( 28589944 )
2017
4
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's. ( 27862915 )
2017
5
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. ( 28488678 )
2017
6
Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. ( 26825811 )
2016
7
A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18. ( 26669480 )
2016
8
Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution. ( 26659337 )
2016
9
Rub Evoked Reflex Epilepsy in an Infant With Cerebellar Hypoplasia. ( 27268764 )
2016
10
Repeated prenatal exposure to valproic acid results in cerebellar hypoplasia and ataxia. ( 27984183 )
2016
11
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. ( 26970947 )
2016
12
Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2. ( 27000979 )
2016
13
Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1. ( 25728839 )
2015
14
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25560765 )
2015
15
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. ( 26290468 )
2015
16
Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18. ( 26310287 )
2015
17
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. ( 25668516 )
2015
18
Response to Correspondence on "Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts". ( 25805803 )
2015
19
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. ( 25855803 )
2015
20
Ratio of fetal anteroposterior to transverse cerebellar diameter for detection of the cerebellar hypoplasia in the second trimester and comparison with trisomy 18. ( 26311297 )
2015
21
A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). ( 25668033 )
2015
22
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. ( 24839100 )
2014
23
Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia. ( 26331030 )
2014
24
Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons. ( 24599700 )
2014
25
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. ( 24989451 )
2014
26
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. ( 25452764 )
2014
27
A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23. ( 24575028 )
2014
28
A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification. ( 23817307 )
2013
29
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia. ( 23416624 )
2013
30
Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes. ( 23500598 )
2013
31
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. ( 24098143 )
2013
32
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. ( 24260534 )
2013
33
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. ( 23901204 )
2013
34
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. ( 23938146 )
2013
35
Cerebellar hypoplasia in a case with neurofibromatosis type 1. ( 24311430 )
2013
36
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia. ( 23749989 )
2013
37
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: a note of doubt. ( 23345526 )
2013
38
Identification of feline panleukopenia virus proteins expressed in Purkinje cell nuclei of cats with cerebellar hypoplasia. ( 23159676 )
2013
39
Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. ( 24185815 )
2013
40
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt. ( 23345527 )
2013
41
Potential mechanisms of cerebellar hypoplasia in prematurity. ( 23842990 )
2013
42
Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome. ( 22506855 )
2013
43
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. ( 23625088 )
2013
44
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. ( 22633752 )
2013
45
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. ( 23564332 )
2013
46
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. ( 23864587 )
2013
47
Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius). ( 22508700 )
2013
48
Unilateral cerebellar hypoplasia and mesencephalic malformation in a Hanoverian foal. ( 23608891 )
2013
49
N-methyl-N-nitrosourea-induced cerebellar hypoplasia in rats: Effect of arachidonic acid supplementation during the gestational, lactational and post-weaning periods. ( 24137238 )
2013
50
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. ( 22709267 )
2012

Variations for Cerebellar Hypoplasia

ClinVar genetic disease variations for Cerebellar Hypoplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081

Copy number variations for Cerebellar Hypoplasia from CNVD:

7
id CNVD ID Chromosom 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:

id Super pathways Score Top Affiliating Genes
1 11.84 CASK OPHN1 PAFAH1B1
2 10.62 PAFAH1B1 RELN VLDLR
3 10.26 PAFAH1B1 RELN VLDLR

GO Terms for Cerebellar Hypoplasia

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

id Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.54 OPHN1 RELN VLDLR
2 cerebral cortex development GO:0021987 9.46 PAFAH1B1 RELN
3 hippocampus development GO:0021766 9.43 PAFAH1B1 RELN
4 positive regulation of protein kinase activity GO:0045860 9.4 RELN VLDLR
5 positive regulation of dendritic spine morphogenesis GO:0061003 9.32 PAFAH1B1 RELN
6 actin cytoskeleton organization GO:0030036 9.26 OPHN1 PAFAH1B1
7 layer formation in cerebral cortex GO:0021819 9.16 PAFAH1B1 RELN
8 ventral spinal cord development GO:0021517 8.96 RELN VLDLR
9 reelin-mediated signaling pathway GO:0038026 8.62 RELN VLDLR

Sources for Cerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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