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MCID: CRB045
MIFTS: 50

Cerebellar Hypoplasia

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Cerebellar Hypoplasia

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MalaCards integrated aliases for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 58 77 54 55 56
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cerebellar hypoplasia-tapetoretinal degeneration syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cerebellar hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Cerebellar Hypoplasia

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NIH Rare Diseases : 54 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.

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 ataxia, mental retardation, and dysequilibrium syndrome 1. An important gene associated with Cerebellar Hypoplasia is FLG (Filaggrin), and among its related pathways/superpathways are Neuroscience and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include cerebellum, brain and eye, and related phenotypes are nystagmus and ataxia

NINDS : 55 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 : 77 Cerebellar hypoplasia is characterized by reduced cerebellar volume even though cerebellar shape is... more...

Description from OMIM: 213000
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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 192)
# Related Disease Score Top Affiliating Genes
1 mental retardation and microcephaly with pontine and cerebellar hypoplasia 33.9 CASK TSEN54
2 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 33.4 VLDLR WDR81
3 lissencephaly with cerebellar hypoplasia 32.8 CDK5 DCX PAFAH1B1 RELN VLDLR
4 cerebellar ataxia, mental retardation and dysequlibrium syndrome 31.6 VLDLR WDR81
5 lissencephaly 31.1 CDK5 DCX PAFAH1B1 RELN VLDLR
6 microcephaly 29.2 CASK DKC1 FLG TSEN54
7 periventricular nodular heterotopia 29.2 DCX PAFAH1B1 RELN
8 cerebellar hypoplasia with endosteal sclerosis 12.5
9 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.4
10 lissencephaly 7 with cerebellar hypoplasia 12.4
11 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.4
12 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.4
13 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.4
14 porencephaly, cerebellar hypoplasia, and internal malformations 12.3
15 cerebellar hypoplasia tapetoretinal degeneration 12.3
16 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 12.2
17 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 12.1
18 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 12.1
19 cerebral calcification cerebellar hypoplasia 12.1
20 thrombocytopenia cerebellar hypoplasia short stature 12.1
21 isolated bilateral hemispheric cerebellar hypoplasia 12.1
22 isolated unilateral hemispheric cerebellar hypoplasia 12.1
23 lissencephaly with cerebellar hypoplasia type f 12.1
24 lissencephaly with cerebellar hypoplasia type e 12.1
25 lissencephaly with cerebellar hypoplasia type b 12.1
26 lissencephaly with cerebellar hypoplasia type a 12.1
27 lissencephaly with cerebellar hypoplasia type d 12.1
28 lissencephaly with cerebellar hypoplasia type c 12.1
29 pontocerebellar hypoplasia, type 1c 11.8
30 dyskeratosis congenita, x-linked 11.7
31 dyskeratosis congenita 11.6
32 x-linked intellectual disability, najm type 11.6
33 spinocerebellar ataxia, autosomal recessive 2 11.3
34 ophn1 syndrome 11.3
35 ritscher-schinzel syndrome 1 11.2
36 gillespie syndrome 11.1
37 congenital disorder of glycosylation, type ia 11.1
38 coach syndrome 11.1
39 neu-laxova syndrome 1 11.1
40 revesz syndrome 11.1
41 dyskeratosis congenita, autosomal recessive 5 11.1
42 muscular dystrophy-dystroglycanopathy , type b, 14 11.1
43 cerebellofaciodental syndrome 11.1
44 joubert syndrome 26 11.1
45 mental retardation, autosomal recessive 53 11.1
46 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 11.1
47 cask-related disorders 11.1
48 lissencephaly 2 11.1
49 mental retardation, x-linked, syndromic, 35 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
Sources

Symptoms & Phenotypes for Cerebellar Hypoplasia

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Human phenotypes related to Cerebellar Hypoplasia:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
5 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
6 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
7 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
8 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
9 cerebellar hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001321
10 tremor 33 HP:0001337
11 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Eyes:
nystagmus

Neuro:
ataxia
tremor
cerebellar hypoplasia
hypotonia

Clinical features from OMIM:

213000

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.17 CASK CDK5 DCX PAFAH1B1 PI4KA PMM2

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 CASK CDK5 DCX OPHN1 PAFAH1B1 PI4KA
2 growth/size/body region MP:0005378 9.96 CASK DCX DKC1 OPHN1 PAFAH1B1 PI4KA
3 cellular MP:0005384 9.92 CASK DKC1 PAFAH1B1 PI4KA PMM2 RELN
4 mortality/aging MP:0010768 9.65 CASK CDK5 DCX DKC1 OPHN1 PAFAH1B1
5 integument MP:0010771 9.63 CASK CDK5 DKC1 OPHN1 PI4KA RELN
6 nervous system MP:0003631 9.28 CASK CDK5 DCX OPHN1 PAFAH1B1 PMM2
Sources

Drugs & Therapeutics for Cerebellar Hypoplasia

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-term Outcome of Newborns With an Isolated Small Cerebellum Completed NCT03572868

Search NIH Clinical Center for Cerebellar Hypoplasia

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Genetic Tests for Cerebellar Hypoplasia

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Anatomical Context for Cerebellar Hypoplasia

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MalaCards organs/tissues related to Cerebellar Hypoplasia:

42
Cerebellum, Brain, Eye, Heart, Tongue, Fetal Brain
Sources

Publications for Cerebellar Hypoplasia

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Articles related to Cerebellar Hypoplasia:

(show top 50) (show all 266)
# Title Authors Year
1
Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes. ( 30863741 )
2019
2
Utility of fetal anteroposterior to transverse cerebellar diameter ratio to exclude cerebellar hypoplasia in trisomy 18. ( 29517144 )
2018
3
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. ( 29510240 )
2018
4
SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment. ( 30275942 )
2018
5
Ventriculomegaly and cerebellar hypoplasia in a neonate with interstitial 11q 24 deletion in Jacobsen syndrome region. ( 29988670 )
2018
6
Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study. ( 30230717 )
2018
7
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. ( 30449657 )
2018
8
New Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior-posterior gradient with cerebellar hypoplasia, thinning corpus callosum, and absent anterior commissure. ( 30537274 )
2018
9
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
10
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
11
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. ( 28488678 )
2017
12
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. ( 28589944 )
2017
13
Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia. ( 29404343 )
2017
14
Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia. ( 29171036 )
2017
15
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. ( 27983999 )
2017
16
Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. ( 26825811 )
2016
17
A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18. ( 26669480 )
2016
18
Rub Evoked Reflex Epilepsy in an Infant With Cerebellar Hypoplasia. ( 27268764 )
2016
19
Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution. ( 26659337 )
2016
20
Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2. ( 27000979 )
2016
21
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. ( 26970947 )
2016
22
Repeated prenatal exposure to valproic acid results in cerebellar hypoplasia and ataxia. ( 27984183 )
2016
23
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25560765 )
2015
24
Response to Correspondence on &amp;quot;Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts&amp;quot;. ( 25805803 )
2015
25
Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1. ( 25728839 )
2015
26
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. ( 26290468 )
2015
27
Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18. ( 26310287 )
2015
28
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. ( 25855803 )
2015
29
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
30
A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). ( 25668033 )
2015
31
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
32
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25609191 )
2015
33
A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23. ( 24575028 )
2014
34
Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia. ( 26331030 )
2014
35
Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons. ( 24599700 )
2014
36
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. ( 24989451 )
2014
37
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. ( 24839100 )
2014
38
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. ( 25452764 )
2014
39
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. ( 23864587 )
2013
40
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
41
Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius). ( 22508700 )
2013
42
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. ( 23901204 )
2013
43
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. ( 23938146 )
2013
44
Cerebellar hypoplasia in a case with neurofibromatosis type 1. ( 24311430 )
2013
45
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. ( 23625088 )
2013
46
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
47
N-methyl-N-nitrosourea-induced cerebellar hypoplasia in rats: Effect of arachidonic acid supplementation during the gestational, lactational and post-weaning periods. ( 24137238 )
2013
48
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. ( 22633752 )
2013
49
Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes. ( 23500598 )
2013
50
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: a note of doubt. ( 23345526 )
2013
Sources

Variations for Cerebellar Hypoplasia

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ClinVar genetic disease variations for Cerebellar Hypoplasia:

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCTD3 NM_016121.4(KCTD3): c.1036_1073del38 (p.Pro346Thrfs) deletion Likely pathogenic rs730882243 GRCh38 Chromosome 1, 215602099: 215602136
2 KCTD3 NM_016121.4(KCTD3): c.1036_1073del38 (p.Pro346Thrfs) deletion Likely pathogenic rs730882243 GRCh37 Chromosome 1, 215775441: 215775478
3 VLDLR NM_003383.4(VLDLR): c.1901G> A (p.Arg634His) single nucleotide variant Uncertain significance rs35339834 GRCh37 Chromosome 9, 2648286: 2648286
4 VLDLR NM_003383.4(VLDLR): c.1901G> A (p.Arg634His) single nucleotide variant Uncertain significance rs35339834 GRCh38 Chromosome 9, 2648286: 2648286
5 VLDLR NM_003383.4(VLDLR): c.732C> G (p.Ile244Met) single nucleotide variant Uncertain significance rs145995735 GRCh37 Chromosome 9, 2643443: 2643443
6 VLDLR NM_003383.4(VLDLR): c.732C> G (p.Ile244Met) single nucleotide variant Uncertain significance rs145995735 GRCh38 Chromosome 9, 2643443: 2643443
7 VLDLR NM_003383.4(VLDLR): c.792C> T (p.Cys264=) single nucleotide variant Uncertain significance rs141850403 GRCh37 Chromosome 9, 2643503: 2643503
8 VLDLR NM_003383.4(VLDLR): c.792C> T (p.Cys264=) single nucleotide variant Uncertain significance rs141850403 GRCh38 Chromosome 9, 2643503: 2643503
9 VLDLR NM_003383.4(VLDLR): c.1532A> G (p.Asn511Ser) single nucleotide variant Uncertain significance rs182216426 GRCh37 Chromosome 9, 2646381: 2646381
10 VLDLR NM_003383.4(VLDLR): c.1532A> G (p.Asn511Ser) single nucleotide variant Uncertain significance rs182216426 GRCh38 Chromosome 9, 2646381: 2646381
11 VLDLR NM_003383.4(VLDLR): c.1838G> A (p.Arg613His) single nucleotide variant Uncertain significance rs35948251 GRCh37 Chromosome 9, 2648223: 2648223
12 VLDLR NM_003383.4(VLDLR): c.1838G> A (p.Arg613His) single nucleotide variant Uncertain significance rs35948251 GRCh38 Chromosome 9, 2648223: 2648223
13 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
14 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh38 Chromosome 17, 75522000: 75522000
15 USH2A NM_206933.2(USH2A): c.14027A> G (p.Gln4676Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397517987 GRCh37 Chromosome 1, 215844420: 215844420
16 USH2A NM_206933.2(USH2A): c.14027A> G (p.Gln4676Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397517987 GRCh38 Chromosome 1, 215671078: 215671078
17 USH2A NM_206933.2(USH2A): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146824138 GRCh37 Chromosome 1, 216462627: 216462627
18 USH2A NM_206933.2(USH2A): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146824138 GRCh38 Chromosome 1, 216289285: 216289285
19 VLDLR NM_003383.4(VLDLR): c.1187-3C> T single nucleotide variant Likely benign rs11789583 GRCh37 Chromosome 9, 2644954: 2644954
20 VLDLR NM_003383.4(VLDLR): c.1187-3C> T single nucleotide variant Likely benign rs11789583 GRCh38 Chromosome 9, 2644954: 2644954
21 VLDLR NM_003383.4(VLDLR): c.1458C> T (p.Ala486=) single nucleotide variant Benign/Likely benign rs6143 GRCh37 Chromosome 9, 2645719: 2645719
22 VLDLR NM_003383.4(VLDLR): c.1458C> T (p.Ala486=) single nucleotide variant Benign/Likely benign rs6143 GRCh38 Chromosome 9, 2645719: 2645719
23 VLDLR NM_003383.4(VLDLR): c.1643A> G (p.Lys548Arg) single nucleotide variant Uncertain significance rs148487944 GRCh37 Chromosome 9, 2646492: 2646492
24 VLDLR NM_003383.4(VLDLR): c.1643A> G (p.Lys548Arg) single nucleotide variant Uncertain significance rs148487944 GRCh38 Chromosome 9, 2646492: 2646492
25 VLDLR NM_003383.4(VLDLR): c.175G> A (p.Val59Ile) single nucleotide variant Benign/Likely benign rs6149 GRCh37 Chromosome 9, 2635545: 2635545
26 VLDLR NM_003383.4(VLDLR): c.175G> A (p.Val59Ile) single nucleotide variant Benign/Likely benign rs6149 GRCh38 Chromosome 9, 2635545: 2635545
27 VLDLR NM_003383.4(VLDLR): c.2041C> T (p.Leu681=) single nucleotide variant Conflicting interpretations of pathogenicity rs79720897 GRCh37 Chromosome 9, 2648747: 2648747
28 VLDLR NM_003383.4(VLDLR): c.2041C> T (p.Leu681=) single nucleotide variant Conflicting interpretations of pathogenicity rs79720897 GRCh38 Chromosome 9, 2648747: 2648747
29 VLDLR NM_003383.4(VLDLR): c.2067A> G (p.Gln689=) single nucleotide variant Likely benign rs6148 GRCh37 Chromosome 9, 2648773: 2648773
30 VLDLR NM_003383.4(VLDLR): c.2067A> G (p.Gln689=) single nucleotide variant Likely benign rs6148 GRCh38 Chromosome 9, 2648773: 2648773
31 VLDLR NM_003383.4(VLDLR): c.2416+8G> T single nucleotide variant Benign rs6145 GRCh37 Chromosome 9, 2651962: 2651962
32 VLDLR NM_003383.4(VLDLR): c.2416+8G> T single nucleotide variant Benign rs6145 GRCh38 Chromosome 9, 2651962: 2651962
33 VLDLR NM_003383.4(VLDLR): c.24G> A (p.Ala8=) single nucleotide variant Benign/Likely benign rs34336270 GRCh37 Chromosome 9, 2622213: 2622213
34 VLDLR NM_003383.4(VLDLR): c.24G> A (p.Ala8=) single nucleotide variant Benign/Likely benign rs34336270 GRCh38 Chromosome 9, 2622213: 2622213
35 VLDLR NM_003383.4(VLDLR): c.468C> T (p.Pro156=) single nucleotide variant Benign/Likely benign rs2242105 GRCh37 Chromosome 9, 2643179: 2643179
36 VLDLR NM_003383.4(VLDLR): c.468C> T (p.Pro156=) single nucleotide variant Benign/Likely benign rs2242105 GRCh38 Chromosome 9, 2643179: 2643179
37 VLDLR NM_003383.4(VLDLR): c.82+7G> A single nucleotide variant Benign rs2219143 GRCh37 Chromosome 9, 2622278: 2622278
38 VLDLR NM_003383.4(VLDLR): c.82+7G> A single nucleotide variant Benign rs2219143 GRCh38 Chromosome 9, 2622278: 2622278
39 VLDLR NM_003383.4(VLDLR): c.944-5T> C single nucleotide variant Likely benign rs35782329 GRCh37 Chromosome 9, 2643832: 2643832
40 VLDLR NM_003383.4(VLDLR): c.944-5T> C single nucleotide variant Likely benign rs35782329 GRCh38 Chromosome 9, 2643832: 2643832
41 46;XY;t(3;18)(q13.2;q11.2)dn Translocation Uncertain significance
42 VLDLR NM_003383.4(VLDLR): c.-21_-19dupGGC duplication Conflicting interpretations of pathogenicity rs71329437 GRCh37 Chromosome 9, 2622169: 2622171
43 VLDLR NM_003383.4(VLDLR): c.-21_-19dupGGC duplication Conflicting interpretations of pathogenicity rs71329437 GRCh38 Chromosome 9, 2622169: 2622171
44 VLDLR NM_003383.4(VLDLR): c.-27_-19delGGCGGCGGC deletion Conflicting interpretations of pathogenicity rs71329437 GRCh37 Chromosome 9, 2622163: 2622171
45 VLDLR NM_003383.4(VLDLR): c.-27_-19delGGCGGCGGC deletion Conflicting interpretations of pathogenicity rs71329437 GRCh38 Chromosome 9, 2622163: 2622171
46 VLDLR NM_003383.4(VLDLR): c.-335C> T single nucleotide variant Uncertain significance rs557105742 GRCh38 Chromosome 9, 2621855: 2621855
47 VLDLR NM_003383.4(VLDLR): c.-335C> T single nucleotide variant Uncertain significance rs557105742 GRCh37 Chromosome 9, 2621855: 2621855
48 VLDLR NM_003383.4(VLDLR): c.-167dupG duplication Uncertain significance rs886063801 GRCh38 Chromosome 9, 2622023: 2622023
49 VLDLR NM_003383.4(VLDLR): c.-167dupG duplication Uncertain significance rs886063801 GRCh37 Chromosome 9, 2622023: 2622023
50 VLDLR NM_003383.4(VLDLR): c.-113C> G single nucleotide variant Uncertain significance rs34433332 GRCh38 Chromosome 9, 2622077: 2622077

Copy number variations for Cerebellar Hypoplasia from CNVD:

7
# 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
Sources

Expression for Cerebellar Hypoplasia

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Search GEO for disease gene expression data for Cerebellar Hypoplasia.
Sources

Pathways for Cerebellar Hypoplasia

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

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
12.09 CASK CDK5 DCX OPHN1 PAFAH1B1
2
Reelin Pathway (Cajal-Retzius cells) 65
11.5 CDK5 RELN VLDLR
3
Guidance Cues and Growth Cone Motility 65
11.5 CDK5 RELN VLDLR
4
G-protein signaling_Regulation of RAC1 activity 23
11.23 CDK5 RELN VLDLR
5
Reelin signaling pathway 1
10.72 CDK5 PAFAH1B1 RELN VLDLR
6
Lissencephaly gene (LIS1) in neuronal migration and development 1
10.51 CDK5 DCX PAFAH1B1 RELN VLDLR
Sources

GO Terms for Cerebellar Hypoplasia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.85 CASK CDK5 DCX DKC1 OPHN1 PAFAH1B1
2 cytosol GO:0005829 9.28 CASK CDK5 DCX FLG OPHN1 PAFAH1B1
3 microtubule associated complex GO:0005875 8.96 DCX PAFAH1B1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.8 CDK5 DCX OPHN1 PAFAH1B1 VLDLR
2 brain development GO:0007420 9.77 DCX PAFAH1B1 RELN
3 axon guidance GO:0007411 9.76 OPHN1 RELN VLDLR
4 cell migration GO:0016477 9.75 CDK5 PAFAH1B1 RELN
5 cerebral cortex development GO:0021987 9.61 CDK5 PAFAH1B1 RELN
6 synaptic vesicle endocytosis GO:0048488 9.57 CDK5 OPHN1
7 associative learning GO:0008306 9.56 CDK5 RELN
8 regulation of synaptic transmission, glutamatergic GO:0051966 9.55 CDK5 OPHN1
9 axon extension GO:0048675 9.54 CDK5 DCX
10 positive regulation of protein kinase activity GO:0045860 9.54 CDK5 RELN VLDLR
11 calcium ion import GO:0070509 9.52 CASK CDK5
12 positive regulation of dendritic spine morphogenesis GO:0061003 9.51 PAFAH1B1 RELN
13 protein localization to synapse GO:0035418 9.49 CDK5 RELN
14 cerebral cortex neuron differentiation GO:0021895 9.48 OPHN1 PAFAH1B1
15 ventral spinal cord development GO:0021517 9.46 RELN VLDLR
16 neuron migration GO:0001764 9.46 CDK5 DCX PAFAH1B1 RELN
17 dendrite morphogenesis GO:0048813 9.43 CDK5 DCX VLDLR
18 reelin-mediated signaling pathway GO:0038026 9.32 RELN VLDLR
19 hippocampus development GO:0021766 9.26 CDK5 DCX PAFAH1B1 RELN
20 layer formation in cerebral cortex GO:0021819 8.92 CDK5 DCX PAFAH1B1 RELN

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 CDK5 DCX PAFAH1B1
Sources

Sources for Cerebellar Hypoplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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