MCID: CRB045
MIFTS: 47

Cerebellar Hypoplasia malady

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

Aliases & Classifications for Cerebellar Hypoplasia

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 47NINDS, 52Orphanet, 25GTR, 48Novoseek, 29ICD10 via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cerebellar Hypoplasia:

Name: Cerebellar Hypoplasia 50 46 23 47 25 48
 
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
cerebellar hypoplasia-tapetoretinal degeneration syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

62
cerebellar hypoplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 213000
Orphanet52 ORPHA2246
ICD10 via Orphanet29 Q04.3

Summaries for Cerebellar Hypoplasia

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NIH Rare Diseases:46 Cerebellar hypoplasia is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. it may occur with a variety of congenital syndromes, metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has. the most common findings are developmental and speech delay, poor muscle tone (hypotonia), ataxia and abnormal ocular (eye) movements. cerebellar hypoplasia may range from mild or partial underdevelopment to complete absence (agenesis). it may affect only the cerebellum, or also affect other central nervous system structures. the inheritance pattern may differ depending on the underlying cause of the condition. treatment is generally symptomatic and supportive and depends upon the underlying disorder and the severity of symptoms. last updated: 10/26/2015

MalaCards based summary: Cerebellar Hypoplasia, also known as cerebellar hypoplasia-tapetoretinal degeneration syndrome, is related to mental retardation and microcephaly with pontine and cerebellar hypoplasia and cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, and has symptoms including visual impairment, abnormal electroretinogram and nystagmus. An important gene associated with Cerebellar Hypoplasia is OPHN1 (Oligophrenin 1), and among its related pathways are Guidance Cues and Growth Cone Motility and Neuroscience. Affiliated tissues include cerebellum, brain and eye, and related mouse phenotypes are reproductive system and integument.

NINDS:47 Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.

Wikipedia:69 Cerebellar hypoplasia is a heterogeneous group of disorder of cerebellar maldevelopment presenting as... more...

Description from OMIM:50 213000

Related Diseases for Cerebellar Hypoplasia

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

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation and microcephaly with pontine and cerebellar hypoplasia12.3
2cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 112.2
3mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance12.2
4lissencephaly with cerebellar hypoplasia12.1
5microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome12.1
6lissencephaly 7 with cerebellar hypoplasia12.1
7polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis12.1
8porencephaly, cerebellar hypoplasia, and internal malformations12.1
9cerebellar hypoplasia with endosteal sclerosis12.0
10anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis11.9
11cerebellar hypoplasia tapetoretinal degeneration11.9
12cerebral calcification cerebellar hypoplasia11.9
13thrombocytopenia cerebellar hypoplasia short stature11.9
14isolated cerebellar hypoplasia/agenesis11.9
15isolated bilateral hemispheric cerebellar hypoplasia11.9
16isolated unilateral hemispheric cerebellar hypoplasia11.9
17x-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome11.9
18lissencephaly with cerebellar hypoplasia type f11.9
19lissencephaly with cerebellar hypoplasia type e11.9
20lissencephaly with cerebellar hypoplasia type b11.9
21lissencephaly with cerebellar hypoplasia type a11.9
22lissencephaly with cerebellar hypoplasia type d11.9
23lissencephaly with cerebellar hypoplasia type c11.9
24dyskeratosis congenita, x-linked11.4
25hoyeraal hreidarsson syndrome11.3
26x-linked intellectual disability, najm type11.2
27dyskeratosis congenita11.2
28ophn1 syndrome11.1
29spinocerebellar ataxia, autosomal recessive 211.0
30spinocerebellar ataxia, autosomal recessive 2010.9
31lissencephaly 210.9
32pancreatic and cerebellar agenesis10.9
33jung wolff back stahl syndrome10.9
34lissencephaly10.3
35microcephaly10.1
36hydranencephaly10.1
37epilepsy10.1
38ataxia10.1
39pancytopenia10.0
40cerebritis10.0
41cataract10.0
42hydrocephalus10.0
43lymphocytic choriomeningitis10.0
44neu-laxova syndrome110.0
45muscular dystrophy-dystroglycanopathy , type b, 1410.0
46coach syndrome10.0
47revesz syndrome10.0
48cerebellofaciodental syndrome10.0
49congenital disorder of glycosylation, type ia10.0
50dyskeratosis congenita, autosomal recessive 510.0

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



Diseases related to cerebellar hypoplasia

Symptoms for Cerebellar Hypoplasia

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Symptoms by clinical synopsis from OMIM:

213000

Clinical features from OMIM:

213000

Symptoms:

 52 (show all 9)
  • visual impairment
  • abnormal electroretinogram
  • nystagmus
  • optic atrophy
  • ataxia
  • muscular hypotonia
  • cerebellar hypoplasia
  • abnormal retinal pigmentation
  • cognitive impairment

HPO human phenotypes related to Cerebellar Hypoplasia:

(show all 14)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 nystagmus hallmark (90%) HP:0000639
4 optic atrophy hallmark (90%) HP:0000648
5 muscular hypotonia hallmark (90%) HP:0001252
6 incoordination hallmark (90%) HP:0002311
7 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
8 abnormality of retinal pigmentation hallmark (90%) HP:0007703
9 cognitive impairment hallmark (90%) HP:0100543
10 nystagmus HP:0000639
11 ataxia HP:0001251
12 muscular hypotonia HP:0001252
13 cerebellar hypoplasia HP:0001321
14 tremor HP:0001337

Drugs & Therapeutics for Cerebellar Hypoplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
2Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224

Search NIH Clinical Center for Cerebellar Hypoplasia

Genetic Tests for Cerebellar Hypoplasia

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Genetic tests related to Cerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Cerebellar Hypoplasia25 23

Anatomical Context for Cerebellar Hypoplasia

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MalaCards organs/tissues related to Cerebellar Hypoplasia:

34
Cerebellum, Brain, Eye, Heart, Tongue, Fetal brain

Animal Models for Cerebellar Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Hypoplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.3CASK, DKC1, OPHN1, PAFAH1B1, RELN
2MP:00107718.3CASK, DKC1, OPHN1, PI4KA, RELN
3MP:00053867.7CASK, OPHN1, PAFAH1B1, PI4KA, RELN, VLDLR
4MP:00107687.0CASK, DKC1, OPHN1, PAFAH1B1, PI4KA, RELN
5MP:00053786.9CASK, DKC1, OPHN1, PAFAH1B1, PI4KA, RELN

Publications for Cerebellar Hypoplasia

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Articles related to Cerebellar Hypoplasia:

(show top 50)    (show all 248)
idTitleAuthorsYear
1
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. (25560765)
2015
2
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. (25452764)
2014
3
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. (24989451)
2014
4
Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia. (26331030)
2014
5
A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23. (24575028)
2014
6
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. (23564332)
2013
7
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. (22633752)
2013
8
Congenital torticollis due to sternomastoid aplasia with unilateral cerebellar hypoplasia: a rare association. (21997867)
2012
9
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. (19901254)
2009
10
Cerebellar hypoplasia, continuous spike-waves during sleep, and neuropsychological and behavioral disorders. (19073855)
2008
11
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. (18364738)
2008
12
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome. (16801186)
2006
13
Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature. (16053913)
2005
14
Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome? (15844787)
2005
15
Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (15103730)
2004
16
Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. (15287060)
2004
17
Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. (12687674)
2003
18
Cerebellar hypoplasia with heterotopic purkinje cells in the molecular layer and preservation of the granule layers associated with severe encephalopathy. A new entity? (12910442)
2003
19
A fatal case of cerebellar hypoplasia associated with anterior horn cell disease. (12872823)
2003
20
Epilepsy, intelligence, and psychiatric disorders in patients with cerebellar hypoplasia. (12661930)
2003
21
Polymerase chain reaction (PCR) amplification of parvoviral DNA from the brains of dogs and cats with cerebellar hypoplasia. (12892305)
2003
22
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. (12807966)
2003
23
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (12207929)
2002
24
Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. (11748497)
2001
25
Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. (10700701)
2000
26
Diffuse pachygyria with cerebellar hypoplasia: a milder form of microlissencephaly or a new genetic syndrome? (10514106)
1999
27
Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. (10598835)
1999
28
Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages. (10029349)
1998
29
Holoprosencephaly and cerebellar hypoplasia in a neonate with multiple congenital malformations. (9257477)
1997
30
Clinical features of developmental disability associated with cerebellar hypoplasia. (8916160)
1996
31
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. (7607282)
1995
32
Hereditary cerebellar hypoplasia. (2002208)
1991
33
The critical period of Purkinje cell degeneration and cerebellar hypoplasia due to bilirubin. (3434214)
1987
34
Different behaviors among lysosomal enzymes in the cerebellum of jaundiced Gunn rats with cerebellar hypoplasia. (3033152)
1987
35
Cerebellar hypoplasia in the Gunn rat is associated with quantitative changes in neurotypic and gliotypic proteins. (2410596)
1985
36
Studies on a cerebellar 50,000-dalton protein associated with cerebellar hypoplasia in jaundiced Gunn rats: its identity with glial fibrillary acidic protein as evidenced by the improved immunoblotting method. (3989566)
1985
37
Autosomal recessive congenital cerebellar hypoplasia. (3995786)
1985
38
Cerebellar hypoplasia in beef shorthorn calves. (7159314)
1982
39
Facial hemangioma with cerebrovascular anomalies and cerebellar hypoplasia. (7137514)
1982
40
Cerebellar hypoplasia in the Gunn rat with hereditary hyperbilirubinemia: immunohistochemical and neurochemical studies. (6255097)
1980
41
Human cerebellar hypoplasia: a syndrome of diverse causes. (7387451)
1980
42
Wesselsbron disease: a cause of congenital porencephaly and cerebellar hypoplasia in calves. (551364)
1979
43
Congenital hydranencephaly and cerebellar hypoplasia in calves. (721674)
1978
44
Cerebellar hypoplasia in Werdnig-Hoffmann disease. (1158057)
1975
45
Pathogenesis of cerebellar hypoplasia produced by lymphocytic choriomeningitis virus infection of neonatal rats. 1. Evolution of disease following infection at 4 days of age. (4568304)
1973
46
Micrognathia and cerebellar hypoplasia in an Aberdeen Angus herd. (4736395)
1973
47
Cerebellar hypoplasia and degeneration in the young Arab horse: clinical and neuropathological features. (4748678)
1973
48
Cerebellar hypoplasia and degeneration in a foal. (5950937)
1966
49
Effects of congenital feline cerebellar hypoplasia on developmental behavior and the vestibular system. (5295455)
1966
50
Cerebellar hypoplasia, hypomyelinogenesis, and congenital tremors of pigs, associated with prenatal hog cholera vaccination of sows. (5893210)
1965

Variations for Cerebellar Hypoplasia

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Copy number variations for Cerebellar Hypoplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12601960146900000154913754Copy numberDCK1Cerebellar hypoplasia
22601990146900000154913754Copy numberFLNACerebellar hypoplasia
326170402490000037500000Copy numberARXCerebellar hypoplasia
426255303750000042300000Copy numberCASKCerebellar hypoplasia
526284204137419041782287Copy numberCASKCerebellar hypoplasia
626442806510000067700000Copy numberOPHN1Cerebellar hypoplasia
7266515098200000110500000Copy numberDCXCerebellar hypoplasia

Expression for genes affiliated with Cerebellar Hypoplasia

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Search GEO for disease gene expression data for Cerebellar Hypoplasia.

Pathways for genes affiliated with Cerebellar Hypoplasia

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

idSuper pathwaysScoreTop Affiliating Genes
19.5RELN, VLDLR
29.2CASK, OPHN1, PAFAH1B1
39.0PAFAH1B1, RELN, VLDLR
49.0PAFAH1B1, RELN, VLDLR

GO Terms for genes affiliated with Cerebellar Hypoplasia

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ventral spinal cord developmentGO:00215179.9RELN, VLDLR
2reelin-mediated signaling pathwayGO:00380269.8RELN, VLDLR
3positive regulation of dendritic spine morphogenesisGO:00610039.8PAFAH1B1, RELN
4layer formation in cerebral cortexGO:00218199.7PAFAH1B1, RELN
5positive regulation of protein kinase activityGO:00458609.6RELN, VLDLR
6neuron migrationGO:00017649.4PAFAH1B1, RELN
7cerebral cortex developmentGO:00219879.3PAFAH1B1, RELN, VLDLR
8hippocampus developmentGO:00217669.1PAFAH1B1, RELN

Sources for Cerebellar Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet