MCID: CRB045
MIFTS: 48

Cerebellar Hypoplasia malady

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

Aliases & Classifications for Cerebellar Hypoplasia

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Sources:
24GeneTests, 27GTR, 31ICD10 via Orphanet, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 52 48 24 49 27 50
 
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
cerebellar hypoplasia-tapetoretinal degeneration syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

64
cerebellar hypoplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 213000
Orphanet54 ORPHA2246
ICD10 via Orphanet31 Q04.3

Summaries for Cerebellar Hypoplasia

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NIH Rare Diseases:48 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. last updated: 10/26/2015

MalaCards based summary: Cerebellar Hypoplasia, also known as cerebellar hypoplasia-tapetoretinal degeneration syndrome, is related to mental retardation and microcephaly with pontine and cerebellar hypoplasia and cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, and has symptoms including Array, Array and Array. An important gene associated with Cerebellar Hypoplasia is OPHN1 (Oligophrenin 1), and among its related pathways are Reelin signaling pathway and Neuroscience. Affiliated tissues include cerebellum, eye and brain, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and integument.

NINDS:49 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:71 Cerebellar hypoplasia is a heterogeneous group of disorder of cerebellar maldevelopment presenting as... more...

Description from OMIM:52 213000

Related Diseases for Cerebellar Hypoplasia

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

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation and microcephaly with pontine and cerebellar hypoplasia12.3
2cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 112.2
3lissencephaly with cerebellar hypoplasia12.1
4mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance12.1
5polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis12.1
6lissencephaly 7 with cerebellar hypoplasia12.1
7microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome12.1
8porencephaly, cerebellar hypoplasia, and internal malformations12.0
9cerebellar hypoplasia with endosteal sclerosis11.9
10anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis11.8
11cerebellar hypoplasia tapetoretinal degeneration11.8
12cerebral calcification cerebellar hypoplasia11.8
13thrombocytopenia cerebellar hypoplasia short stature11.8
14isolated cerebellar hypoplasia/agenesis11.8
15isolated bilateral hemispheric cerebellar hypoplasia11.8
16isolated unilateral hemispheric cerebellar hypoplasia11.8
17x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome11.8
18lissencephaly with cerebellar hypoplasia type f11.8
19lissencephaly with cerebellar hypoplasia type e11.8
20lissencephaly with cerebellar hypoplasia type b11.8
21lissencephaly with cerebellar hypoplasia type a11.8
22lissencephaly with cerebellar hypoplasia type d11.8
23lissencephaly with cerebellar hypoplasia type c11.8
24dyskeratosis congenita, x-linked11.5
25dyskeratosis congenita11.3
26x-linked intellectual disability, najm type11.1
27ophn1 syndrome11.0
28spinocerebellar ataxia, autosomal recessive 210.9
29neu-laxova syndrome110.8
30muscular dystrophy-dystroglycanopathy , type b, 1410.8
31coach syndrome10.8
32revesz syndrome10.8
33cerebellofaciodental syndrome10.8
34congenital disorder of glycosylation, type ia10.8
35dyskeratosis congenita, autosomal recessive 510.8
36cask-related disorders10.8
37spinocerebellar ataxia, autosomal recessive 2010.8
38lissencephaly 210.8
39pancreatic and cerebellar agenesis10.8
40jung wolff back stahl syndrome10.8
41muscular dystrophy-dystroglycanopathy , type a, 1410.7
42dyskeratosis congenita, autosomal dominant 110.7
43cortical dysplasia, complex, with other brain malformations 610.7
44neu-laxova syndrome 210.7
45pontocerebellar hypoplasia, type 1c10.7
46pontocerebellar hypoplasia type 1a10.7
47cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.7
48trichothiodystrophy 5, nonphotosensitive10.7
49spondylometaphyseal dysplasia, sedaghatian type10.7
50cerebellar ataxia, mental retardation and dysequlibrium syndrome10.7

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



Diseases related to cerebellar hypoplasia

Symptoms & Phenotypes for Cerebellar Hypoplasia

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Symptoms by clinical synopsis from OMIM:

213000

Clinical features from OMIM:

213000

Human phenotypes related to Cerebellar Hypoplasia:

 54 64 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment64 54 Very frequent (99-80%) HP:0000505
2 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
3 nystagmus64 54 Very frequent (99-80%) HP:0000639
4 optic atrophy64 54 Very frequent (99-80%) HP:0000648
5 ataxia64 54 Very frequent (99-80%) HP:0001251
6 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
7 cerebellar hypoplasia64 54 Very frequent (99-80%) HP:0001321
8 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703
9 cognitive impairment64 54 Very frequent (99-80%) HP:0100543
10 tremor64 HP:0001337

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1928.8DKC1, PAFAH1B1, PI4KA

MGI Mouse Phenotypes related to Cerebellar Hypoplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4CASK, DKC1, OPHN1, PI4KA, RELN
2MP:00053897.9CASK, DCX, DKC1, OPHN1, PAFAH1B1, RELN
3MP:00036317.7CASK, DCX, OPHN1, PAFAH1B1, RELN, VLDLR
4MP:00053867.2CASK, DCX, OPHN1, PAFAH1B1, PI4KA, RELN
5MP:00107686.6CASK, DCX, DKC1, OPHN1, PAFAH1B1, PI4KA
6MP:00053786.6CASK, DCX, DKC1, OPHN1, PAFAH1B1, PI4KA

Drugs & Therapeutics for Cerebellar Hypoplasia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts4067

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
2Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224

Search NIH Clinical Center for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

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Genetic tests related to Cerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Cerebellar Hypoplasia27 24

Anatomical Context for Cerebellar Hypoplasia

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MalaCards organs/tissues related to Cerebellar Hypoplasia:

36
Cerebellum, Eye, Brain, Heart, Tongue, Fetal brain

Publications for Cerebellar Hypoplasia

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Articles related to Cerebellar Hypoplasia:

(show top 50)    (show all 253)
idTitleAuthorsYear
1
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. (28488678)
2017
2
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
3
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. (27983999)
2017
4
Rub Evoked Reflex Epilepsy in an Infant With Cerebellar Hypoplasia. (27268764)
2016
5
A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18. (26669480)
2016
6
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. (26970947)
2016
7
Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2. (27000979)
2016
8
Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution. (26659337)
2016
9
Repeated prenatal exposure to valproic acid results in cerebellar hypoplasia and ataxia. (27984183)
2016
10
Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. (26825811)
2016
11
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. (25609191)
2015
12
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. (25560765)
2015
13
Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1. (25728839)
2015
14
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
15
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. (25855803)
2015
16
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
17
Response to Correspondence on "Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts". (25805803)
2015
18
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. (26290468)
2015
19
A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). (25668033)
2015
20
Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18. (26310287)
2015
21
A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23. (24575028)
2014
22
Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons. (24599700)
2014
23
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. (25452764)
2014
24
Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia. (26331030)
2014
25
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. (24989451)
2014
26
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. (24839100)
2014
27
Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. (24185815)
2013
28
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. (23901204)
2013
29
N-methyl-N-nitrosourea-induced cerebellar hypoplasia in rats: Effect of arachidonic acid supplementation during the gestational, lactational and post-weaning periods. (24137238)
2013
30
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. (23625088)
2013
31
Potential mechanisms of cerebellar hypoplasia in prematurity. (23842990)
2013
32
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. (22633752)
2013
33
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. (23938146)
2013
34
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
35
Identification of feline panleukopenia virus proteins expressed in Purkinje cell nuclei of cats with cerebellar hypoplasia. (23159676)
2013
36
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia. (23416624)
2013
37
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
38
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. (24260534)
2013
39
Unilateral cerebellar hypoplasia and mesencephalic malformation in a Hanoverian foal. (23608891)
2013
40
Cerebellar hypoplasia in a case with neurofibromatosis type 1. (24311430)
2013
41
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. (23564332)
2013
42
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
43
Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome. (22506855)
2013
44
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: a note of doubt. (23345526)
2013
45
Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes. (23500598)
2013
46
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. (23864587)
2013
47
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt. (23345527)
2013
48
Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius). (22508700)
2013
49
Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature. (22529034)
2012
50
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero. (22241708)
2012

Variations for Cerebellar Hypoplasia

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Copy number variations for Cerebellar Hypoplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1260196X146900000154913754Copy numberDCK1Cerebellar hypoplasia
2260199X146900000154913754Copy numberFLNACerebellar hypoplasia
3261704X2490000037500000Copy numberARXCerebellar hypoplasia
4262553X3750000042300000Copy numberCASKCerebellar hypoplasia
5262842X4137419041782287Copy numberCASKCerebellar hypoplasia
6264428X6510000067700000Copy numberOPHN1Cerebellar hypoplasia
7266515X98200000110500000Copy numberDCXCerebellar hypoplasia

Expression for genes affiliated with Cerebellar Hypoplasia

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Search GEO for disease gene expression data for Cerebellar Hypoplasia.

Pathways for genes affiliated with Cerebellar Hypoplasia

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

idSuper pathwaysScoreTop Affiliating Genes
19.1PAFAH1B1, RELN, VLDLR
28.4CASK, DCX, OPHN1, PAFAH1B1
38.3DCX, PAFAH1B1, RELN, VLDLR

GO Terms for genes affiliated with Cerebellar Hypoplasia

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

idNameGO IDScoreTop Affiliating Genes
1microtubule associated complexGO:00058759.1DCX, PAFAH1B1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cerebral cortex developmentGO:002198710.2PAFAH1B1, RELN
2positive regulation of dendritic spine morphogenesisGO:006100310.0PAFAH1B1, RELN
3axon guidanceGO:000741110.0OPHN1, RELN, VLDLR
4dendrite morphogenesisGO:00488139.9DCX, VLDLR
5positive regulation of protein kinase activityGO:00458609.8RELN, VLDLR
6reelin-mediated signaling pathwayGO:00380269.7RELN, VLDLR
7ventral spinal cord developmentGO:00215179.6RELN, VLDLR
8brain developmentGO:00074209.4DCX, PAFAH1B1, RELN
9hippocampus developmentGO:00217669.4DCX, PAFAH1B1, RELN
10layer formation in cerebral cortexGO:00218199.4DCX, PAFAH1B1, RELN
11neuron migrationGO:00017649.2DCX, PAFAH1B1, RELN
12nervous system developmentGO:00073998.9DCX, OPHN1, PAFAH1B1, VLDLR

Sources for Cerebellar Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet