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MIFTS: 48

Cerebellar Hypoplasia

Categories: Rare diseases, Neuronal diseases, Fetal 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 57 76 53 54 55
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cerebellar hypoplasia-tapetoretinal degeneration syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cerebellar hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Cerebellar Hypoplasia

About this section
NIH Rare Diseases : 53 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 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 and lissencephaly with cerebellar hypoplasia. An important gene associated with Cerebellar Hypoplasia is FLG (Filaggrin), 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 visual impairment and abnormal electroretinogram

NINDS : 54 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 : 76 Cerebellar hypoplasia is characterized by reduced cerebellar volume even though cerebellar shape is... more...

Description from OMIM: 213000
Sources

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 185)
# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 32.7 VLDLR WDR81
2 lissencephaly with cerebellar hypoplasia 32.5 CDK5 RELN VLDLR
3 cerebellar ataxia, mental retardation and dysequlibrium syndrome 30.9 VLDLR WDR81
4 lissencephaly 30.8 CDK5 RELN VLDLR
5 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.4
6 cerebellar hypoplasia with endosteal sclerosis 12.3
7 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.2
8 lissencephaly 7 with cerebellar hypoplasia 12.2
9 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.2
10 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 12.2
11 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.2
12 porencephaly, cerebellar hypoplasia, and internal malformations 12.1
13 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 11.9
14 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 11.9
15 cerebellar hypoplasia tapetoretinal degeneration 11.9
16 cerebral calcification cerebellar hypoplasia 11.9
17 thrombocytopenia cerebellar hypoplasia short stature 11.9
18 isolated bilateral hemispheric cerebellar hypoplasia 11.9
19 isolated unilateral hemispheric cerebellar hypoplasia 11.9
20 lissencephaly with cerebellar hypoplasia type f 11.9
21 lissencephaly with cerebellar hypoplasia type e 11.9
22 lissencephaly with cerebellar hypoplasia type b 11.9
23 lissencephaly with cerebellar hypoplasia type a 11.9
24 lissencephaly with cerebellar hypoplasia type d 11.9
25 lissencephaly with cerebellar hypoplasia type c 11.9
26 pontocerebellar hypoplasia, type 1c 11.6
27 dyskeratosis congenita, x-linked 11.6
28 dyskeratosis congenita 11.4
29 x-linked intellectual disability, najm type 11.4
30 spinocerebellar ataxia, autosomal recessive 2 11.1
31 ophn1 syndrome 11.1
32 ritscher-schinzel syndrome 1 11.1
33 gillespie syndrome 10.9
34 congenital disorder of glycosylation, type ia 10.9
35 coach syndrome 10.9
36 neu-laxova syndrome 1 10.9
37 revesz syndrome 10.9
38 dyskeratosis congenita, autosomal recessive 5 10.9
39 muscular dystrophy-dystroglycanopathy , type b, 14 10.9
40 cerebellofaciodental syndrome 10.9
41 joubert syndrome 26 10.9
42 mental retardation, autosomal recessive 53 10.9
43 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 10.9
44 cask-related disorders 10.9
45 lissencephaly 2 10.9
46 mental retardation, x-linked, syndromic, 35 10.9
47 pancreatic and cerebellar agenesis 10.9
48 spinocerebellar ataxia, autosomal recessive 20 10.9
49 jung wolff back stahl syndrome 10.9
50 dyskeratosis congenita, autosomal dominant 1 10.8

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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Symptoms via clinical synopsis from OMIM:

57
Eyes:
nystagmus

Neuro:
ataxia
tremor
cerebellar hypoplasia
hypotonia


Clinical features from OMIM:

213000

Human phenotypes related to Cerebellar Hypoplasia:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
3 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
4 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
5 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
6 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 cerebellar hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001321
8 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
9 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
10 generalized hypotonia 32 HP:0001290
11 tremor 32 HP:0001337

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 CASK CDK5 OPHN1 PI4KA RELN VLDLR
2 growth/size/body region MP:0005378 9.8 OPHN1 PI4KA RELN VLDLR WDR81 CASK
3 integument MP:0010771 9.63 CASK CDK5 DKC1 OPHN1 PI4KA RELN
4 mortality/aging MP:0010768 9.5 CASK CDK5 DKC1 OPHN1 PI4KA RELN
5 nervous system MP:0003631 9.1 CASK CDK5 OPHN1 RELN VLDLR WDR81
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 Not yet recruiting NCT03572868

Search NIH Clinical Center for Cerebellar Hypoplasia

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Genetic Tests for Cerebellar Hypoplasia

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Sources

Anatomical Context for Cerebellar Hypoplasia

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MalaCards organs/tissues related to Cerebellar Hypoplasia:

41
Cerebellum, Eye, Brain, Heart, Tongue, Fetal Brain
Sources

Publications for Cerebellar Hypoplasia

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Articles related to Cerebellar Hypoplasia:

(show top 50) (show all 258)
# Title Authors Year
1
Utility of fetal anteroposterior to transverse cerebellar diameter ratio to exclude cerebellar hypoplasia in trisomy 18. ( 29517144 )
2018
2
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. ( 29510240 )
2018
3
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
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
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. ( 28589944 )
2017
7
Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia. ( 29404343 )
2017
8
Prenatal diagnosis of posterior fossa anomalies: Additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia. ( 29171036 )
2017
9
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. ( 27983999 )
2017
10
Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. ( 26825811 )
2016
11
A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18. ( 26669480 )
2016
12
Rub Evoked Reflex Epilepsy in an Infant With Cerebellar Hypoplasia. ( 27268764 )
2016
13
Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution. ( 26659337 )
2016
14
Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2. ( 27000979 )
2016
15
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia. ( 26970947 )
2016
16
Repeated prenatal exposure to valproic acid results in cerebellar hypoplasia and ataxia. ( 27984183 )
2016
17
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. ( 25560765 )
2015
18
Response to Correspondence on &amp;quot;Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts&amp;quot;. ( 25805803 )
2015
19
Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1. ( 25728839 )
2015
20
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. ( 26290468 )
2015
21
Creation of a cerebellar diameter reference standard and its clinical application to the detection of cerebellar hypoplasia unique to trisomy 18. ( 26310287 )
2015
22
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. ( 25855803 )
2015
23
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
24
A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). ( 25668033 )
2015
25
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
26
A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23. ( 24575028 )
2014
27
Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia. ( 26331030 )
2014
28
Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons. ( 24599700 )
2014
29
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. ( 24989451 )
2014
30
Cerebellar hypoplasia: differential diagnosis and diagnostic approach. ( 24839100 )
2014
31
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. ( 25452764 )
2014
32
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. ( 23864587 )
2013
33
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
34
Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius). ( 22508700 )
2013
35
MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. ( 23901204 )
2013
36
Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs. ( 23938146 )
2013
37
Cerebellar hypoplasia in a case with neurofibromatosis type 1. ( 24311430 )
2013
38
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts. ( 23625088 )
2013
39
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
40
N-methyl-N-nitrosourea-induced cerebellar hypoplasia in rats: Effect of arachidonic acid supplementation during the gestational, lactational and post-weaning periods. ( 24137238 )
2013
41
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. ( 22633752 )
2013
42
Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes. ( 23500598 )
2013
43
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: a note of doubt. ( 23345526 )
2013
44
Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome. ( 22506855 )
2013
45
Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt. ( 23345527 )
2013
46
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
47
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. ( 23564332 )
2013
48
Unilateral cerebellar hypoplasia and mesencephalic malformation in a Hanoverian foal. ( 23608891 )
2013
49
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep. ( 24260534 )
2013
50
Identification of feline panleukopenia virus proteins expressed in Purkinje cell nuclei of cats with cerebellar hypoplasia. ( 23159676 )
2013
Sources

Variations for Cerebellar Hypoplasia

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ClinVar genetic disease variations for Cerebellar Hypoplasia:

6
(show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
2 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh38 Chromosome 17, 75522000: 75522000
3 KCTD3 NM_016121.4(KCTD3): c.1036_1073del38 (p.Pro346Thrfs) deletion Likely pathogenic rs730882243 GRCh38 Chromosome 1, 215602099: 215602136
4 KCTD3 NM_016121.4(KCTD3): c.1036_1073del38 (p.Pro346Thrfs) deletion Likely pathogenic rs730882243 GRCh37 Chromosome 1, 215775441: 215775478
5 VLDLR NM_003383.4(VLDLR): c.1901G> A (p.Arg634His) single nucleotide variant Uncertain significance rs35339834 GRCh37 Chromosome 9, 2648286: 2648286
6 VLDLR NM_003383.4(VLDLR): c.1901G> A (p.Arg634His) single nucleotide variant Uncertain significance rs35339834 GRCh38 Chromosome 9, 2648286: 2648286
7 VLDLR NM_003383.4(VLDLR): c.732C> G (p.Ile244Met) single nucleotide variant Uncertain significance rs145995735 GRCh37 Chromosome 9, 2643443: 2643443
8 VLDLR NM_003383.4(VLDLR): c.732C> G (p.Ile244Met) single nucleotide variant Uncertain significance rs145995735 GRCh38 Chromosome 9, 2643443: 2643443
9 VLDLR NM_003383.4(VLDLR): c.792C> T (p.Cys264=) single nucleotide variant Uncertain significance rs141850403 GRCh37 Chromosome 9, 2643503: 2643503
10 VLDLR NM_003383.4(VLDLR): c.792C> T (p.Cys264=) single nucleotide variant Uncertain significance rs141850403 GRCh38 Chromosome 9, 2643503: 2643503
11 VLDLR NM_003383.4(VLDLR): c.1532A> G (p.Asn511Ser) single nucleotide variant Uncertain significance rs182216426 GRCh37 Chromosome 9, 2646381: 2646381
12 VLDLR NM_003383.4(VLDLR): c.1532A> G (p.Asn511Ser) single nucleotide variant Uncertain significance rs182216426 GRCh38 Chromosome 9, 2646381: 2646381
13 VLDLR NM_003383.4(VLDLR): c.1838G> A (p.Arg613His) single nucleotide variant Uncertain significance rs35948251 GRCh37 Chromosome 9, 2648223: 2648223
14 VLDLR NM_003383.4(VLDLR): c.1838G> A (p.Arg613His) single nucleotide variant Uncertain significance rs35948251 GRCh38 Chromosome 9, 2648223: 2648223
15 46;XY;t(3;18)(q13.2;q11.2)dn Translocation Uncertain significance
16 VLDLR NM_003383.4(VLDLR): c.-21_-19dupGGC duplication Conflicting interpretations of pathogenicity rs71329437 GRCh37 Chromosome 9, 2622169: 2622171
17 VLDLR NM_003383.4(VLDLR): c.-21_-19dupGGC duplication Conflicting interpretations of pathogenicity rs71329437 GRCh38 Chromosome 9, 2622169: 2622171
18 VLDLR NM_003383.4(VLDLR): c.-27_-19delGGCGGCGGC deletion Conflicting interpretations of pathogenicity rs369552432 GRCh37 Chromosome 9, 2622163: 2622171
19 VLDLR NM_003383.4(VLDLR): c.-27_-19delGGCGGCGGC deletion Conflicting interpretations of pathogenicity rs369552432 GRCh38 Chromosome 9, 2622163: 2622171
20 VLDLR NM_003383.4(VLDLR): c.-335C> T single nucleotide variant Uncertain significance rs557105742 GRCh38 Chromosome 9, 2621855: 2621855
21 VLDLR NM_003383.4(VLDLR): c.-335C> T single nucleotide variant Uncertain significance rs557105742 GRCh37 Chromosome 9, 2621855: 2621855
22 VLDLR NM_003383.4(VLDLR): c.-167dupG duplication Uncertain significance rs886063801 GRCh37 Chromosome 9, 2622023: 2622023
23 VLDLR NM_003383.4(VLDLR): c.-167dupG duplication Uncertain significance rs886063801 GRCh38 Chromosome 9, 2622023: 2622023
24 VLDLR NM_003383.4(VLDLR): c.-113C> G single nucleotide variant Uncertain significance rs34433332 GRCh38 Chromosome 9, 2622077: 2622077
25 VLDLR NM_003383.4(VLDLR): c.-113C> G single nucleotide variant Uncertain significance rs34433332 GRCh37 Chromosome 9, 2622077: 2622077
26 VLDLR NM_003383.4(VLDLR): c.-56_-54delCGT deletion Uncertain significance rs886063804 GRCh37 Chromosome 9, 2622134: 2622136
27 VLDLR NM_003383.4(VLDLR): c.-56_-54delCGT deletion Uncertain significance rs886063804 GRCh38 Chromosome 9, 2622134: 2622136
28 VLDLR NM_003383.4(VLDLR): c.-25_-24insATCCAG insertion Uncertain significance rs886063807 GRCh37 Chromosome 9, 2622165: 2622166
29 VLDLR NM_003383.4(VLDLR): c.-25_-24insATCCAG insertion Uncertain significance rs886063807 GRCh38 Chromosome 9, 2622165: 2622166
30 VLDLR NM_003383.4(VLDLR): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance rs767529669 GRCh37 Chromosome 9, 2643403: 2643403
31 VLDLR NM_003383.4(VLDLR): c.692G> A (p.Arg231His) single nucleotide variant Uncertain significance rs767529669 GRCh38 Chromosome 9, 2643403: 2643403
32 VLDLR NM_003383.4(VLDLR): c.862G> T (p.Gly288Cys) single nucleotide variant Uncertain significance rs886063808 GRCh37 Chromosome 9, 2643669: 2643669
33 VLDLR NM_003383.4(VLDLR): c.862G> T (p.Gly288Cys) single nucleotide variant Uncertain significance rs886063808 GRCh38 Chromosome 9, 2643669: 2643669
34 VLDLR NM_003383.4(VLDLR): c.943+10delT deletion Uncertain significance rs886063810 GRCh37 Chromosome 9, 2643760: 2643760
35 VLDLR NM_003383.4(VLDLR): c.943+10delT deletion Uncertain significance rs886063810 GRCh38 Chromosome 9, 2643760: 2643760
36 VLDLR NM_003383.4(VLDLR): c.1755A> C (p.Gly585=) single nucleotide variant Uncertain significance rs372963310 GRCh37 Chromosome 9, 2647525: 2647525
37 VLDLR NM_003383.4(VLDLR): c.1755A> C (p.Gly585=) single nucleotide variant Uncertain significance rs372963310 GRCh38 Chromosome 9, 2647525: 2647525
38 VLDLR NM_003383.4(VLDLR): c.1791G> A (p.Ala597=) single nucleotide variant Uncertain significance rs115773578 GRCh37 Chromosome 9, 2647561: 2647561
39 VLDLR NM_003383.4(VLDLR): c.1791G> A (p.Ala597=) single nucleotide variant Uncertain significance rs115773578 GRCh38 Chromosome 9, 2647561: 2647561
40 VLDLR NM_003383.4(VLDLR): c.1966C> T (p.Arg656Cys) single nucleotide variant Uncertain significance rs754226022 GRCh37 Chromosome 9, 2648672: 2648672
41 VLDLR NM_003383.4(VLDLR): c.1966C> T (p.Arg656Cys) single nucleotide variant Uncertain significance rs754226022 GRCh38 Chromosome 9, 2648672: 2648672
42 VLDLR NM_003383.4(VLDLR): c.*16T> C single nucleotide variant Uncertain significance rs150475109 GRCh37 Chromosome 9, 2653884: 2653884
43 VLDLR NM_003383.4(VLDLR): c.*16T> C single nucleotide variant Uncertain significance rs150475109 GRCh38 Chromosome 9, 2653884: 2653884
44 VLDLR NM_003383.4(VLDLR): c.*63C> T single nucleotide variant Uncertain significance rs17848373 GRCh37 Chromosome 9, 2653931: 2653931
45 VLDLR NM_003383.4(VLDLR): c.*63C> T single nucleotide variant Uncertain significance rs17848373 GRCh38 Chromosome 9, 2653931: 2653931
46 VLDLR NM_003383.4(VLDLR): c.*551T> C single nucleotide variant Likely benign rs8210 GRCh37 Chromosome 9, 2654419: 2654419
47 VLDLR NM_003383.4(VLDLR): c.*551T> C single nucleotide variant Likely benign rs8210 GRCh38 Chromosome 9, 2654419: 2654419
48 VLDLR NM_003383.4(VLDLR): c.-392C> T single nucleotide variant Uncertain significance rs867729388 GRCh38 Chromosome 9, 2621798: 2621798
49 VLDLR NM_003383.4(VLDLR): c.-392C> T single nucleotide variant Uncertain significance rs867729388 GRCh37 Chromosome 9, 2621798: 2621798
50 VLDLR NM_003383.4(VLDLR): c.-171G> C single nucleotide variant Uncertain significance rs35763266 GRCh38 Chromosome 9, 2622019: 2622019

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
12.03 CASK CDK5 OPHN1
2
Guidance Cues and Growth Cone Motility 64
11.4 CDK5 RELN VLDLR
3
G-protein signaling_Regulation of RAC1 activity 22
11.11 CDK5 RELN VLDLR
4
Lissencephaly gene (LIS1) in neuronal migration and development 1
10.62 CDK5 RELN VLDLR
5
Reelin signaling pathway 1
10.26 CDK5 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 dendrite GO:0030425 8.8 CDK5 OPHN1 RELN

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.61 OPHN1 RELN VLDLR
2 forebrain development GO:0030900 9.54 CDK5 RELN
3 cerebral cortex development GO:0021987 9.52 CDK5 RELN
4 hippocampus development GO:0021766 9.51 CDK5 RELN
5 dendrite morphogenesis GO:0048813 9.49 CDK5 VLDLR
6 associative learning GO:0008306 9.48 CDK5 RELN
7 synaptic vesicle endocytosis GO:0048488 9.46 CDK5 OPHN1
8 regulation of synaptic transmission, glutamatergic GO:0051966 9.4 CDK5 OPHN1
9 calcium ion import GO:0070509 9.37 CASK CDK5
10 protein localization to synapse GO:0035418 9.32 CDK5 RELN
11 layer formation in cerebral cortex GO:0021819 9.26 CDK5 RELN
12 ventral spinal cord development GO:0021517 9.16 RELN VLDLR
13 positive regulation of protein kinase activity GO:0045860 9.13 CDK5 RELN VLDLR
14 reelin-mediated signaling pathway GO:0038026 8.62 RELN VLDLR
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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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