MCID: CRB045
MIFTS: 40

Cerebellar Hypoplasia

Categories: Eye diseases, Fetal diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Hypoplasia

MalaCards integrated aliases for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 12 74 20 53 54 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0070338

Summaries for Cerebellar Hypoplasia

GARD : 20 Cerebellar hypoplasia is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. It may occur with a variety of congenital syndromes, metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has. The most common findings are developmental and speech delay, poor muscle tone (hypotonia), ataxia and abnormal ocular (eye) movements. Cerebellar hypoplasia may range from mild or partial underdevelopment to complete absence (agenesis). It may affect only the cerebellum, or also affect other central nervous system structures. The inheritance pattern may differ depending on the underlying cause of the condition. Treatment is generally symptomatic and supportive and depends upon the underlying disorder and the severity of symptoms.

MalaCards based summary : Cerebellar Hypoplasia is related to cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay and lissencephaly with cerebellar hypoplasia. An important gene associated with Cerebellar Hypoplasia is OPHN1 (Oligophrenin 1), and among its related pathways/superpathways are Neuroscience and Guidance Cues and Growth Cone Motility. Affiliated tissues include cerebellum, brain and eye, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed.

NINDS : 53 Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.  Cerebellar hypoplasia is a feature of a number of congenital (present at birth) malformation syndromes, such as Walker-Warburg syndrome (a form of muscular dystrophy. It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia.   In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes.  In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment.

Wikipedia : 74 Cerebellar hypoplasia is characterized by reduced cerebellar volume, even though cerebellar shape is... more...

Related Diseases for Cerebellar Hypoplasia

Diseases in the Cerebellar Hypoplasia family:

Cerebellar Malformation

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

(show top 50) (show all 366)
# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 32.6 PMM2 DKC1 CASK ATAD3A
2 lissencephaly with cerebellar hypoplasia 32.4 VLDLR RELN PAFAH1B1 DCX CDK5
3 lissencephaly 2 31.9 VLDLR TUBA1A RELN PAFAH1B1
4 peho syndrome 31.7 WDR73 RARS2 CASK
5 lissencephaly 31.5 VLDLR TUBA1A RELN PAFAH1B1 DCX CDK5
6 pontocerebellar hypoplasia 30.7 VLDLR RARS2 CASK ATAD3A
7 pachygyria 30.5 TUBA1A PAFAH1B1 DCX
8 microcephaly 30.4 WDR81 WDR73 VLDLR TUBA1A RARS2 DKC1
9 lissencephaly 1 30.4 RELN PAFAH1B1 DCX
10 neuronal migration disorders 30.1 TUBA1A RELN PAFAH1B1 DCX
11 microlissencephaly 29.9 WDR81 TUBA1A
12 cerebellar disease 29.9 VLDLR TUBA1A PAFAH1B1 CASK
13 periventricular nodular heterotopia 29.7 VLDLR TUBA1A RELN PAFAH1B1 INTS8 DCX
14 early infantile epileptic encephalopathy 29.6 RELN RARS2 PAFAH1B1 CASK
15 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.8
16 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.7
17 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 11.6
18 hoyeraal hreidarsson syndrome 11.6
19 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 11.6
20 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 11.6
21 lissencephaly 7 with cerebellar hypoplasia 11.5
22 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 11.5
23 cerebellar hypoplasia with endosteal sclerosis 11.5
24 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 11.5
25 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome 11.5
26 x-linked intellectual disability, najm type 11.5
27 dyskeratosis congenita, x-linked 11.4
28 porencephaly, cerebellar hypoplasia, and internal malformations 11.4
29 cerebellar hypoplasia tapetoretinal degeneration 11.3
30 spinocerebellar ataxia, autosomal recessive 2 11.3
31 pontocerebellar hypoplasia, type 1c 11.3
32 ophn1 syndrome 11.2
33 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 11.2
34 isolated unilateral hemispheric cerebellar hypoplasia 11.2
35 gillespie syndrome 11.1
36 congenital disorder of glycosylation, type ia 11.1
37 revesz syndrome 11.1
38 cerebellofaciodental syndrome 11.1
39 cerebellar, ocular, craniofacial, and genital syndrome 11.1
40 cerebral calcification cerebellar hypoplasia 11.1
41 spondylometaphyseal dysplasia, sedaghatian type 11.1
42 muscular dystrophy-dystroglycanopathy , type b, 14 11.1
43 mental retardation, x-linked, syndromic, 35 11.0
44 lissencephaly, familial, with cleft palate and cerebellar hypoplasia 11.0
45 pancreatic and cerebellar agenesis 11.0
46 coach syndrome 1 11.0
47 neu-laxova syndrome 1 11.0
48 dyskeratosis congenita, autosomal recessive 5 11.0
49 joubert syndrome 26 11.0
50 mental retardation, autosomal recessive 53 11.0

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



Diseases related to Cerebellar Hypoplasia

Symptoms & Phenotypes for Cerebellar Hypoplasia

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

26 (show all 43)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.19 PI4KA VLDLR
2 Decreased viability GR00154-A 10.19 CDK5
3 Decreased viability GR00221-A-1 10.19 DKC1 MAST1
4 Decreased viability GR00221-A-2 10.19 DKC1
5 Decreased viability GR00221-A-3 10.19 MAST1
6 Decreased viability GR00221-A-4 10.19 CDK5 DKC1 MAST1 WNT1
7 Decreased viability GR00231-A 10.19 PI4KA
8 Decreased viability GR00240-S-1 10.19 POLR3B WDR81
9 Decreased viability GR00249-S 10.19 CDK5 DKC1 MAST1 PI4KA TUBA1A WNT1
10 Decreased viability GR00301-A 10.19 DKC1 WNT1
11 Decreased viability GR00342-S-2 10.19 CASK
12 Decreased viability GR00381-A-1 10.19 RARS2
13 Decreased viability GR00386-A-1 10.19 CASK POLR3B TUBA1A WNT1
14 Decreased viability GR00402-S-2 10.19 ATAD3A DKC1 MAST1 PI4KA POLR3B VLDLR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.78 RARS2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.78 DKC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.78 RARS2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.78 DKC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.78 DKC1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.78 DKC1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.78 RARS2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.78 DKC1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.78 DKC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.78 PAFAH1B1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.78 DKC1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.78 DKC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.78 PI4KA
28 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.78 DKC1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.78 DKC1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.78 DKC1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 DKC1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.78 RARS2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.78 DKC1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.78 RARS2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.78 RARS2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.78 RARS2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 PI4KA
38 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.78 RARS2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.78 DKC1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 PI4KA
41 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.78 DKC1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.78 DKC1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.78 DKC1

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.17 ATAD3A CASK CDK5 DCX OPHN1 PAFAH1B1
2 cellular MP:0005384 10.03 ATAD3A CASK DKC1 MAST1 PAFAH1B1 PI4KA
3 growth/size/body region MP:0005378 10 ATAD3A CASK DCX DKC1 OPHN1 PAFAH1B1
4 mortality/aging MP:0010768 9.89 ATAD3A CASK CDK5 DCX DKC1 MAST1
5 nervous system MP:0003631 9.4 CASK CDK5 DCX MAST1 OPHN1 PAFAH1B1

Drugs & Therapeutics for Cerebellar Hypoplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Perinatal and Long-term Outcome of Newborns With an Isolated Small Transverse Cerebellar Diameter Completed NCT03572868

Search NIH Clinical Center for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

Anatomical Context for Cerebellar Hypoplasia

MalaCards organs/tissues related to Cerebellar Hypoplasia:

40
Cerebellum, Brain, Eye, Heart, Cortex, Skin, Fetal Brain

Publications for Cerebellar Hypoplasia

Articles related to Cerebellar Hypoplasia:

(show top 50) (show all 973)
# Title Authors PMID Year
1
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. 61 54
18364738 2008
2
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. 61 54
18512229 2008
3
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. 61 54
18043714 2008
4
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. 54 61
17694350 2007
5
Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. 54 61
17728457 2007
6
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 54 61
17664403 2007
7
The role of RELN in lissencephaly and neuropsychiatric disease. 61 54
16958033 2007
8
Genetic malformations of cortical development. 54 61
16724181 2006
9
Pathogenesis of migration disorders. 61 54
16538086 2006
10
[Monogenic causes of X-linked mental retardation]. 54 61
16506132 2006
11
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. 61 54
16221952 2005
12
Neuronal migration disorders, genetics, and epileptogenesis. 61 54
15921228 2005
13
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. 61 54
12805098 2003
14
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. 61 54
12807966 2003
15
Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy. 61 54
11815869 2002
16
Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. 61 54
11408330 2001
17
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 61 54
10973257 2000
18
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. 54 61
10583221 1999
19
The eldest case of MICPCH with CASK mutation exhibiting gross motor regression. 61
33272775 2021
20
Loss-of-function mutation of c-Ret causes cerebellar hypoplasia in mice with Hirschsprung disease and Down's syndrome. 61
33561442 2021
21
Diagnostic Approach to Cerebellar Hypoplasia. 61
33534089 2021
22
Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital. 61
32926442 2021
23
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. 61
33220177 2021
24
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. 61
33443317 2021
25
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. 61
33105479 2021
26
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification. 61
32833257 2020
27
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects. 61
33209585 2020
28
Curcumin Prevents Cerebellar Hypoplasia and Restores the Behavior in Hyperbilirubinemic Gunn Rat by a Pleiotropic Effect on the Molecular Effectors of Brain Damage. 61
33396688 2020
29
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation. 61
32818970 2020
30
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. 61
32906196 2020
31
Hemiscrotal agenesis: a novel phenotype of a rare malformation. 61
33248450 2020
32
The spectrum of brain malformations and disruptions in twins. 61
33205886 2020
33
Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1. 61
32896090 2020
34
COFS type 3 in an Indian family with antenatally detected arthrogryposis. 61
33219753 2020
35
Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report. 61
31553256 2020
36
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence. 61
32696595 2020
37
Missense mutations in CASK interfere with neurexin binding and neurexin-induced oligomerization. 61
33090494 2020
38
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. 61
32783359 2020
39
Neuropathogenicity of newly isolated avian leukosis viruses from chickens with osteopetrosis and mesenchymal neoplasms. 61
32301629 2020
40
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations. 61
32802951 2020
41
CD8+ T-cell senescence and skewed lymphocyte subsets in young Dyskeratosis Congenita patients with PARN and DKC1 mutations. 61
32452087 2020
42
Lissencephaly, cerebellar hypoplasia, and extrahepatic biliary atresia: An unusual association. 61
31047729 2020
43
A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2. 61
32622959 2020
44
Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report. 61
32872024 2020
45
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. 61
32504085 2020
46
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways. 61
32305418 2020
47
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. 61
32198973 2020
48
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. 61
32519519 2020
49
Loss of CPAP in developing mouse brain and its functional implication for human primary microcephaly. 61
32501282 2020
50
Cerebellar hypoplasia and dysplasia in a juvenile raccoon with parvoviral infection. 61
32404029 2020

Variations for Cerebellar Hypoplasia

Copy number variations for Cerebellar Hypoplasia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 260196 X 146900000 154913754 Copy number Cerebellar hypoplasia
2 260199 X 146900000 154913754 Copy number FLNA Cerebellar hypoplasia
3 261704 X 24900000 37500000 Copy number ARX Cerebellar hypoplasia
4 262553 X 37500000 42300000 Copy number CASK Cerebellar hypoplasia
5 262842 X 41374190 41782287 Copy number CASK Cerebellar hypoplasia
6 264428 X 65100000 67700000 Copy number OPHN1 Cerebellar hypoplasia
7 266515 X 98200000 110500000 Copy number DCX Cerebellar hypoplasia

Expression for Cerebellar Hypoplasia

Search GEO for disease gene expression data for Cerebellar Hypoplasia.

Pathways for Cerebellar Hypoplasia

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

# Super pathways Score Top Affiliating Genes
1 12.19 PAFAH1B1 OPHN1 DCX CDK5 CASK
2 11.57 VLDLR RELN CDK5
3 11.46 WNT1 VLDLR RELN CDK5
4 10.72 VLDLR RELN PAFAH1B1 CDK5
5 10.51 VLDLR RELN PAFAH1B1 DCX CDK5

GO Terms for Cerebellar Hypoplasia

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.53 WNT1 WDR81 WDR73 WDR37 TUBA1A RELN
2 microtubule GO:0005874 9.46 TUBA1A PAFAH1B1 DCX CDK5
3 neuron projection GO:0043005 9.35 RELN PAFAH1B1 MAST1 DCX CDK5

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.85 VLDLR PAFAH1B1 OPHN1 DCX CDK5
2 brain development GO:0007420 9.78 RELN PAFAH1B1 MAST1 DCX
3 microtubule cytoskeleton organization GO:0000226 9.73 TUBA1A PAFAH1B1 CDK5
4 mitochondrion organization GO:0007005 9.67 WDR81 CDK5 ATAD3A
5 cerebral cortex development GO:0021987 9.61 RELN PAFAH1B1 CDK5
6 axon extension GO:0048675 9.57 DCX CDK5
7 neuron migration GO:0001764 9.56 RELN PAFAH1B1 DCX CDK5
8 calcium ion import GO:0070509 9.55 CDK5 CASK
9 positive regulation of dendritic spine morphogenesis GO:0061003 9.54 RELN PAFAH1B1
10 positive regulation of protein kinase activity GO:0045860 9.54 VLDLR RELN CDK5
11 protein localization to synapse GO:0035418 9.52 RELN CDK5
12 cerebral cortex neuron differentiation GO:0021895 9.51 PAFAH1B1 OPHN1
13 dendrite morphogenesis GO:0048813 9.5 VLDLR DCX CDK5
14 hippocampus development GO:0021766 9.46 RELN PAFAH1B1 DCX CDK5
15 ventral spinal cord development GO:0021517 9.4 VLDLR RELN
16 reelin-mediated signaling pathway GO:0038026 9.13 VLDLR RELN PAFAH1B1
17 layer formation in cerebral cortex GO:0021819 8.92 RELN PAFAH1B1 DCX CDK5

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.92 PAFAH1B1 MAST1 DCX CDK5

Sources for Cerebellar Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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