MCID: CRB106
MIFTS: 40

Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Summaries for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Genetics Home Reference:23 VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. Children with VLDLR-associated cerebellar hypoplasia may learn to walk later in childhood, usually after the age of 6, although some are never able to walk independently. In one Turkish family, affected people walk on their hands and feet (quadrupedal locomotion).

MalaCards based summary: Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1, also known as dysequilibrium syndrome, is related to cerebellar ataxia and mental retardation, and has symptoms including muscular hypotonia, gait disturbance and hyperreflexia. An important gene associated with Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 is VLDLR (very low density lipoprotein receptor). Affiliated tissues include brain, cerebellum and eye, and related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

OMIM:47 This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar... (224050) more...

GeneReviews summary for vldlr-ch

Aliases & Classifications for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Sources:
47OMIM, 11diseasecard, 21GeneReviews, 23Genetics Home Reference, 43NIH Rare Diseases, 49Orphanet, 24GTR, 62UMLS, 22GeneTests, 4CDC, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1, Aliases & Descriptions:

Name: Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 47 11
Dysequilibrium Syndrome 43 49 24 62
Cerebellar Ataxia - Intellectual Disability - Dysequilibrium Syndrome 43 49
Cerebellar Disorder, Nonprogressive, with Mental Retardation 43 23
Non-Progressive Cerebellar Ataxia - Intellectual Disability 43 49
Cerebellar Hypoplasia, Vldlr Associated 43 22
Vldlr-Associated Cerebellar Hypoplasia 21 23
Dysequilibrium Syndrome-Vldlr 21 23
Camrq Syndrome 43 49
Vldlrch 43 23
Des 43 4
 
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 23
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 23
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 47
Cerebellar Ataxia, Mental Retardation,dysequilibrium Syndrome 1 21
Non-Progressive Cerebellar Ataxia with Intellectual Disability 49
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 23
Cerebellar Hypoplasia, Vldlr-Associated 23
Des-Vldlr 23
Vldlr-Ch 23
Camrq1 21
Chmrq1 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

49
dysequilibrium syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal
non-progressive cerebellar ataxia with intellectual disability:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM47 224050
Orphanet49 1766, 314647
MESH via Orphanet36 C535731
ICD10 via Orphanet28 G11.8, G11.0
UMLS via Orphanet63 C0394006

Related Diseases for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Diseases related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia30.8WDR81
2mental retardation10.5
3ataxia10.5
4cerebellar hypoplasia10.3
5cerebral palsy10.1
6cerebritis10.1
7myoclonus10.1
8cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.0
9cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.0
10cerebellar ataxia and mental retardation with or without quadrupedal locomotion 310.0

Graphical network of diseases related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:



Diseases related to cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1

Symptoms for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Symptoms by clinical synopsis from OMIM:

224050

Clinical features from OMIM:

224050

Symptoms:

 49 (show all 14)
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • hypereflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • strabismus/squint
  • movement disorder
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • short stature/dwarfism/nanism
  • anomalies of eyes and vision
  • cataract/lens opacification

HPO human phenotypes related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

(show all 39)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 gait disturbance hallmark (90%) HP:0001288
3 hyperreflexia hallmark (90%) HP:0001347
4 incoordination hallmark (90%) HP:0002311
5 cognitive impairment hallmark (90%) HP:0100543
6 strabismus typical (50%) HP:0000486
7 seizures typical (50%) HP:0001250
8 amyotrophy typical (50%) HP:0003202
9 short stature typical (50%) HP:0004322
10 hemiplegia/hemiparesis typical (50%) HP:0004374
11 cataract occasional (7.5%) HP:0000518
12 seizures rare (5%) HP:0001250
13 autosomal recessive inheritance HP:0000007
14 strabismus HP:0000486
15 cataract HP:0000518
16 gaze-evoked nystagmus HP:0000640
17 delayed speech and language development HP:0000750
18 intellectual disability HP:0001249
19 muscular hypotonia HP:0001252
20 dysarthria HP:0001260
21 global developmental delay HP:0001263
22 cerebellar atrophy HP:0001272
23 pachygyria HP:0001302
24 dysmetria HP:0001310
25 cerebellar hypoplasia HP:0001321
26 hyperreflexia HP:0001347
27 pes planus HP:0001763
28 abnormality of metabolism/homeostasis HP:0001939
29 gait ataxia HP:0002066
30 dysdiadochokinesis HP:0002075
31 truncal ataxia HP:0002078
32 intention tremor HP:0002080
33 broad-based gait HP:0002136
34 hypoplasia of the brainstem HP:0002365
35 poor speech HP:0002465
36 congenital onset HP:0003577
37 nonprogressive disorder HP:0003680
38 short stature HP:0004322
39 cortical gyral simplification HP:0009879

Drugs & Therapeutics for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Drug clinical trials:

Search ClinicalTrials for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1

Search NIH Clinical Center for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1

Genetic Tests for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Genetic tests related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

id Genetic test Affiliating Genes
1 Vldlr-Associated Cerebellar Hypoplasia22 VLDLR
2 Dysequilibrium Syndrome24

Anatomical Context for Cerebellar Hypoplasia and Mental Retardation with or Without...

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MalaCards organs/tissues related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

33
Brain, Cerebellum, Eye

Animal Models for Cerebellar Hypoplasia and Mental Retardation with or Without... or affiliated genes

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MGI Mouse Phenotypes related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1CA8, ATP8A2
2MP:00053869.0CA8, VLDLR, ATP8A2

Publications for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Variations for Cerebellar Hypoplasia and Mental Retardation with or Without...

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Clinvar genetic disease variations for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

7 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1VLDLRNG_012741.1: g.(?_5001)_(37693_?)deldeletionPathogenic
2VLDLRNM_003383.3(VLDLR): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs80338907GRCh37Chr 9, 2643480: 2643480
3VLDLRNM_003383.3(VLDLR): c.2339delT (p.Ile780Thrfs)deletionPathogenicrs80338906GRCh37Chr 9, 2651877: 2651877
4CA8NM_004056.4(CA8): c.298T> C (p.Ser100Pro)single nucleotide variantPathogenicrs267606695GRCh37Chr 8, 61178603: 61178603
5VLDLRNM_003383.3(VLDLR): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs80338905GRCh37Chr 9, 2645603: 2645603
6CA8NM_004056.4(CA8): c.710G> A (p.Arg237Gln)single nucleotide variantPathogenicrs387906598GRCh37Chr 8, 61135236: 61135236
7WDR81NM_001163673.1: c.59-2854C> Tsingle nucleotide variantPathogenicGRCh37Chr 17, 1630820: 1630820
8CAMTA1CAMTA1, 81-KB DEL, EX4deletionPathogenic
9CAMTA1CAMTA1, 539-KB DUP, EX3-5duplicationPathogenic
10CAMTA1CAMTA1, 49-KB DEL, EX2-3deletionPathogenic
11ATP8A2NM_016529.4(ATP8A2): c.1128C> G (p.Ile376Met)single nucleotide variantPathogenicGRCh37Chr 13, 26128001: 26128001
12VLDLRNM_003383.3(VLDLR): c.1247_1253delGTTACAA (p.Tyr417Valfs)deletionPathogenicrs398122380GRCh37Chr 9, 2645017: 2645023
13VLDLRNM_003383.3(VLDLR): c.2117G> T (p.Cys706Phe)single nucleotide variantPathogenicrs397514750GRCh37Chr 9, 2650382: 2650382

Expression for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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Search GEO for disease gene expression data for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1.

Pathways for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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Compounds for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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GO Terms for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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Products for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without...

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Sources for Cerebellar Hypoplasia and Mental Retardation with or Without...

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet