Cerebellar Hypoplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Cerebellar Hypoplasia

MalaCards integrated aliases for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia ¹¹ ¹⁹ ⁵² ⁷⁵ ⁵³ ⁴³ ¹⁴

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0070338

MeSH ⁴³ C562568

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Summaries for Cerebellar Hypoplasia

NINDS: ⁵² 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.

MalaCards based summary: Cerebellar Hypoplasia is related to cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay and hoyeraal hreidarsson syndrome. 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, eye and brain, and related phenotypes are Increased homologous recombination repair frequency and nervous system

GARD: ¹⁹ 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.

Disease Ontology: ¹¹ A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed.

Wikipedia: ⁷⁵ Cerebellar hypoplasia is characterized by reduced cerebellar volume, even though cerebellar shape is... more...

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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 448)

#	Related Disease	Score	Top Affiliating Genes
1	cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	32.7	PMM2 DKC1 CASK
2	hoyeraal hreidarsson syndrome	32.7	TINF2 RTEL1 DKC1
3	lissencephaly 7 with cerebellar hypoplasia	32.7	RELN PAFAH1B1 DCX CDK5
4	lissencephaly 2	32.5	VLDLR RELN PAFAH1B1 LRP8
5	revesz syndrome	31.9	TINF2 RTEL1 DKC1
6	dyskeratosis congenita, autosomal dominant 1	31.7	TINF2 DKC1
7	pontocerebellar hypoplasia	30.7	WDR81 VLDLR RELN EXOSC5 CASK
8	lissencephaly 1	30.5	RELN PAFAH1B1 DCX
9	lissencephaly	30.5	WDR73 VLDLR RELN PAFAH1B1 LRP8 DCX
10	microlissencephaly	30.3	WDR81 RELN PAFAH1B1
11	tubulinopathy	30.1	RELN PAFAH1B1
12	periventricular nodular heterotopia	29.9	VLDLR RELN PAFAH1B1 DCX
13	walker-warburg syndrome	29.8	RELN PMM2 GMPPB
14	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	11.8
15	intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	11.7
16	porencephaly, cerebellar hypoplasia, and internal malformations	11.6
17	leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	11.6
18	microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome	11.6
19	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	11.6
20	ophn1 syndrome	11.6
21	neurodevelopmental disorder with cerebellar hypoplasia and spasticity	11.5
22	neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	11.5
23	cerebellar hypoplasia tapetoretinal degeneration	11.5
24	intellectual developmental disorder, x-linked, syndromic, billuart type	11.5
25	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	11.5
26	neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	11.5
27	dyskeratosis congenita, x-linked	11.4
28	anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis	11.4
29	neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities	11.4
30	cimdag syndrome	11.4
31	isolated unilateral hemispheric cerebellar hypoplasia	11.4
32	lissencephaly with cerebellar hypoplasia type e	11.3
33	lissencephaly with cerebellar hypoplasia type a	11.3
34	lissencephaly with cerebellar hypoplasia type d	11.3
35	syndromic x-linked intellectual disability najm type	11.3
36	spinocerebellar ataxia, autosomal recessive 2	11.3
37	intellectual developmental disorder, x-linked, syndromic, 35	11.3
38	pontocerebellar hypoplasia, type 1c	11.3
39	isolated bilateral hemispheric cerebellar hypoplasia	11.3
40	lissencephaly with cerebellar hypoplasia type f	11.3
41	lissencephaly with cerebellar hypoplasia type b	11.3
42	lissencephaly with cerebellar hypoplasia type c	11.3
43	cerebellofaciodental syndrome	11.2
44	congenital disorder of glycosylation, type ia	11.2
45	gillespie syndrome	11.1
46	muscular dystrophy-dystroglycanopathy , type b, 14	11.1
47	cerebellar ataxia, brain abnormalities, and cardiac conduction defects	11.1
48	cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism	11.1
49	lissencephaly, familial, with cleft palate and cerebellar hypoplasia	11.1
50	pancreatic and cerebellar agenesis	11.1

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

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Symptoms & Phenotypes for Cerebellar Hypoplasia

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.14	CASK CDK5 CEP55 DCX DKC1 EXOSC5
2	no effect	GR00402-S-2	10.14	CASK CDK5 CEP55 DCX EXOSC5 OPHN1
3	Increased homologous recombination repair frequency	GR00236-A-1	9.26	CEP55 EXOSC5
4	Increased homologous recombination repair frequency	GR00236-A-2	9.26	CEP55 EXOSC5

MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.24	CASK CDK5 CEP55 DCX LRP8 MAST1
2	growth/size/body region	MP:0005378	10.13	CASK CEP55 DCX DKC1 LRP8 OPHN1
3	cellular	MP:0005384	10.07	CASK CEP55 DKC1 LRP8 MAST1 PAFAH1B1
4	behavior/neurological	MP:0005386	9.93	CASK CDK5 CEP55 DCX LRP8 OPHN1
5	reproductive system	MP:0005389	9.65	CASK CEP55 DCX DKC1 LRP8 OPHN1
6	mortality/aging	MP:0010768	9.58	CASK CDK5 CEP55 DCX DKC1 LRP8

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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

Cochrane evidence based reviews: cerebellar hypoplasia

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Genetic Tests for Cerebellar Hypoplasia

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Anatomical Context for Cerebellar Hypoplasia

Organs/tissues related to Cerebellar Hypoplasia:

MalaCards : Cerebellum, Eye, Brain, Pons, Fetal Brain, Cortex, Heart

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Publications for Cerebellar Hypoplasia

Articles related to Cerebellar Hypoplasia:

(show top 50) (show all 1071)

#	Title	Authors	PMID	Year
1	Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. ⁵³ ⁶²	Turkmen S...Mundlos S	18364738	2008
2	Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. ⁵³ ⁶²	Bedeschi MF...Lalatta F	18512229	2008
3	Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. ⁵³ ⁶²	Moheb LA...Kuss AW	18043714	2008
4	Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. ⁵³ ⁶²	Vermeer S...Lefeber DJ	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. ⁵³ ⁶²	Khelfaoui M...Billuart P	17728457	2007
6	Location and type of mutation in the LIS1 gene do not predict phenotypic severity. ⁵³ ⁶²	Uyanik G...Winkler J	17664403	2007
7	The role of RELN in lissencephaly and neuropsychiatric disease. ⁵³ ⁶²	Chang BS...Walsh CA	16958033	2007
8	Genetic malformations of cortical development. ⁵³ ⁶²	Guerrini R...Marini C	16724181	2006
9	Pathogenesis of migration disorders. ⁵³ ⁶²	Gressens P	16538086	2006
10	[Monogenic causes of X-linked mental retardation]. ⁵³ ⁶²	Guillen-Navarro E...Glover-Lopez G	16506132	2006
11	Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. ⁵³ ⁶²	Zanni G...Chelly J	16221952	2005
12	Neuronal migration disorders, genetics, and epileptogenesis. ⁵³ ⁶²	Guerrini R...Filippi T	15921228	2005
13	Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. ⁵³ ⁶²	Bergmann C...Ramaekers VT	12805098	2003
14	Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. ⁵³ ⁶²	Philip N...Villard L	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. ⁵³ ⁶²	Sarnat HB...Cheyette SR	11815869	2002
16	Persistent reelin-expressing Cajal-Retzius cells in polymicrogyria. ⁵³ ⁶²	Eriksson SH...Sisodiya SM	11408330	2001
17	Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. ⁵³ ⁶²	Hong SE...Walsh CA	10973257	2000
18	Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. ⁵³ ⁶²	Knight SW...Dokal I	10583221	1999
19	Tubulin mutations in human neurodevelopmental disorders. ⁶²	Maillard C...Buisson NB	35915025	2023
20	Prenatal Diagnosis and Neurodevelopmental Outcome in Isolated Cerebellar Hypoplasia of Suspected Hemorrhagic Etiology: a Retrospective Cohort Study. ⁶²	Scelsa B...Rustico M	34799840	2022
21	Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy. ⁶²	Sakamoto M...Matsumoto N	36305856	2022
22	Intrauterine Zika virus infection: review of the current findings with emphasis in the prenatal and postnatal brain imaging diagnostic methods. ⁶²	Santana EFM...Araujo Junior E	33781162	2022
23	Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. ⁶²	Brar BK...Fetal Sequencing Consortium	36403095	2022
24	Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia. ⁶²	Gilboa T...Hacohen N	36445597	2022
25	Spirocercosis and Parvovirus in an Imported Dog: Implications for Biosecurity and Foreign Infectious Disease Risk. ⁶²	Wong E...Koenig A	36371066	2022
26	Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features? ⁶²	Yu QX...Li DZ	35801292	2022
27	Cerebellar Hypoplasia in Two Juvenile African Grey Parrots (Psittacus erithacus). ⁶²	Taggers A...Doneley RJT	36468809	2022
28	Relationship of Impairments in Associative Learning With Intellectual Disability and Cerebellar Hypoplasia in Children With Autism. ⁶²	Welsh JP...Estes AM	36443015	2022
29	A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia. ⁶²	Abdel-Salam GMH...Abdel-Hamid MS	35896821	2022
30	Complete loss of the X-linked gene CASK causes severe cerebellar degeneration. ⁶²	Patel PA...Mukherjee K	35149592	2022
31	Two heterozygous mutations in the calcium/calmodulin-dependent serine protein kinase gene (CASK) in cases with developmental disorders. ⁶²	Yang K...Chen Y	36168867	2022
32	Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report. ⁶²	Wang S...Zhu Y	36379227	2022
33	A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome. ⁶²	Chu CM...Tseng CK	36309505	2022
34	Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies. ⁶²	Yang H...Xiong H	35863218	2022
35	CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons. ⁶²	McSweeney D...Pak C	36262316	2022
36	Abnormal vestibular brainstem structure and function in an animal model of autism spectrum disorder. ⁶²	Mansour Y...Kulesza R	35985362	2022
37	Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice. ⁶²	Cheng C...Kimonis V	36280881	2022
38	Fetal Unilateral Cerebellar Hypoplasia. ⁶²	Madhubala B...Ramachandran R	36352699	2022
39	Deletion of CHD8 in cerebellar granule neuron progenitors leads to severe cerebellar hypoplasia, ataxia, and psychiatric behavior in mice. ⁶²	Chen X...Zhou W	35231638	2022
40	Expanding the natural history of CASK-related disorders to the prenatal period. ⁶²	Gafner M...Cask Study Group*	36175354	2022
41	Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. ⁶²	Di Donato N...Dobyns WB	35769015	2022
42	Pathogenic variants in CASK: Expanding the genotype-phenotype correlations. ⁶²	Dubbs H...Marsh ED	35670295	2022
43	Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience. ⁶²	Bilge S...Havali C	36076253	2022
44	Hypothesis: By-products of vascular disruption carried in the CSF affect prenatal brain development. ⁶²	Lubinsky M	35775635	2022
45	Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations. ⁶²	Zago S...Bonasoni MP	36048137	2022
46	COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum. ⁶²	Mishra R...Dua Puri R	35499143	2022
47	Severe cerebellar malformations in mutant mice demonstrate a role for PDGF-C/PDGFRα signalling in cerebellar development. ⁶²	Gillnas S...Andrae J	35876806	2022
48	PI4KA-Related Disorder ⁶²	Baple EL...Crosby AH	35951779	2022
49	Fetal Pontine Tegmental Cap Dysplasia- A Case Report. ⁶²	Priyanka C...Suresh I	36076676	2022
50	A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review. ⁶²	Spyridakis AC...Litra F	36004024	2022

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Genes for Cerebellar Hypoplasia

Genes related to Cerebellar Hypoplasia (0 elite genes):

(show all 40)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	OPHN1	Oligophrenin 1	Protein Coding	45.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	16221952 16506132 18512229 (more) 12805098 17728457 12807966
2	VLDLR	Very Low Density Lipoprotein Receptor	Protein Coding	43.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	18043714 18364738
3	RELN	Reelin	Protein Coding	35	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	10973257 16958033 16538086 (more) 16724181 15921228 11408330
4	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	32.86	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
5	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	31.35	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10583221
6	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	24.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17664403 16538086
7	DCX	Doublecortin	Protein Coding	22.77	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16538086
8	PMM2	Phosphomannomutase 2	Protein Coding	22.09	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
9	WDR81	WD Repeat Domain 81	Protein Coding	21.88	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
10	MAST1	Microtubule Associated Serine/Threonine Kinase 1	Protein Coding	21.37	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
11	CEP55	Centrosomal Protein 55	Protein Coding	21.3	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
12	EXOSC5	Exosome Component 5	Protein Coding	20.82	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
13	WDR73	WD Repeat Domain 73	Protein Coding	20.78	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
14	CDK5	Cyclin Dependent Kinase 5	Protein Coding	20.52	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
15	WNT1	Wnt Family Member 1	Protein Coding	20.33	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Summaries (show sections)	11815869
16	MED27	Mediator Complex Subunit 27	Protein Coding	19.53	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
17	LRP8	LDL Receptor Related Protein 8	Protein Coding	13.94	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	13.72	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
19	RTEL1	Regulator Of Telomere Elongation Helicase 1	Protein Coding	13.32	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
20	GMPPB	GDP-Mannose Pyrophosphorylase B	Protein Coding	13.26	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
21	EN2	Engrailed Homeobox 2	Protein Coding	12.47	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	MAB21L1	Mab-21 Like 1	Protein Coding	12.22	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
23	PRUNE1	Prune Exopolyphosphatase 1	Protein Coding	12.14	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
24	TUBB	Tubulin Beta Class I	Protein Coding	12.07	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
25	EN1	Engrailed Homeobox 1	Protein Coding	12	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	INTS8	Integrator Complex Subunit 8	Protein Coding	11.89	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
27	ARX	Aristaless Related Homeobox	Protein Coding	11.64	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	CIT	Citron Rho-Interacting Serine/Threonine Kinase	Protein Coding	11.31	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
29	CTNNA2	Catenin Alpha 2	Protein Coding	11.3	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
30	DCLRE1B	DNA Cross-Link Repair 1B	Protein Coding	11.12	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
31	PPP1R21	Protein Phosphatase 1 Regulatory Subunit 21	Protein Coding	11.03	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
32	RNF113A	Ring Finger Protein 113A	Protein Coding	11	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
33	OSGEP	O-Sialoglycoprotein Endopeptidase	Protein Coding	10.9	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
34	LAGE3	L Antigen Family Member 3	Protein Coding	10.82	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
35	SYP	Synaptophysin	Protein Coding	10.48	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	BLTP1	Bridge-Like Lipid Transfer Protein Family Member 1	Protein Coding	10.36	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
37	ATG5	Autophagy Related 5	Protein Coding	10.33	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
38	SMPD4	Sphingomyelin Phosphodiesterase 4	Protein Coding	10.3	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
39	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	10.04	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
40	TPRKB	TP53RK Binding Protein	Protein Coding	10.03	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)

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Variations for Cerebellar Hypoplasia

Copy number variations for Cerebellar Hypoplasia from CNVD:

⁶

#	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

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Expression for Cerebellar Hypoplasia

Search GEO for disease gene expression data for Cerebellar Hypoplasia.

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Pathways for Cerebellar Hypoplasia

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

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ³	12.3	PAFAH1B1 OPHN1 DCX CDK5 CASK
2	Guidance Cues and Growth Cone Motility ⁶⁴	11.69	VLDLR RELN LRP8 CDK5
3	Reelin Pathway (Cajal-Retzius cells) ⁶⁴	11.66	WNT1 VLDLR RELN LRP8 CDK5
4	Neurogenesis regulation in the olfactory epithelium ⁷⁴	11.31	VLDLR RELN PAFAH1B1 LRP8 CDK5
5	Reelin signaling pathway ⁶¹	10.8	VLDLR RELN PAFAH1B1 LRP8 CDK5
6	Lissencephaly gene (LIS1) in neuronal migration and development ⁶¹	10.55	VLDLR RELN PAFAH1B1 LRP8 DCX CDK5
7	Reelin signalling pathway ⁶⁶	10.1	VLDLR RELN

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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	axon	GO:0030424	9.76	PAFAH1B1 OPHN1 MAST1 LRP8 CDK5
2	neuronal cell body	GO:0043025	9.65	PMM2 PAFAH1B1 MAST1 LRP8 CDK5
3	microtubule associated complex	GO:0005875	9.1	PAFAH1B1 LRP8 DCX

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	neuron migration	GO:0001764	10.08	RELN PAFAH1B1 DCX CDK5
2	modulation of chemical synaptic transmission	GO:0050804	9.91	RELN PAFAH1B1 LRP8
3	positive regulation of protein kinase activity	GO:0045860	9.91	CDK5 LRP8 RELN VLDLR
4	positive regulation of dendritic spine morphogenesis	GO:0061003	9.88	RELN PAFAH1B1 LRP8
5	cerebral cortex development	GO:0021987	9.83	RELN PAFAH1B1 LRP8 CDK5
6	interneuron migration	GO:1904936	9.8	RELN PAFAH1B1
7	ventral spinal cord development	GO:0021517	9.8	VLDLR RELN LRP8
8	dendrite morphogenesis	GO:0048813	9.8	VLDLR LRP8 DCX CDK5
9	GDP-mannose biosynthetic process	GO:0009298	9.76	PMM2 GMPPB
10	hippocampus development	GO:0021766	9.76	CDK5 DCX LRP8 PAFAH1B1 RELN
11	reelin-mediated signaling pathway	GO:0038026	9.56	VLDLR RELN PAFAH1B1 LRP8
12	layer formation in cerebral cortex	GO:0021819	9.28	RELN PAFAH1B1 LRP8 DCX CDK5

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

#	Name	GO ID	Score	Top Affiliating Genes
1	very-low-density lipoprotein particle receptor activity	GO:0030229	9.26	VLDLR LRP8
2	reelin receptor activity	GO:0038025	8.92	VLDLR LRP8

Sources

Sources for Cerebellar Hypoplasia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CRB045 MIFTS: 40	Cerebellar Hypoplasia Categories: Fetal diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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