MCID: CRB106
MIFTS: 30

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

Neuronal diseases, Rare diseases, Mental diseases categories
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Summaries for Cerebellar Hypoplasia and Mental Retardation with or Without...

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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 dysequilibrium syndrome, and has symptoms including abnormal gait, ataxia/incoordination/trouble of the equilibrium and hypotonia. 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 eye, and related mouse phenotypes are hearing/vestibular/ear and growth/size/body.

Descriptions from OMIM:46 224050,610185,613227,615268

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

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Sources:
48Orphanet, 62UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 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 46
Dysequilibrium Syndrome 48 62
Cerebellar Ataxia - Intellectual Disability - Dysequilibrium Syndrome 48
 
Non-Progressive Cerebellar Ataxia - Intellectual Disability 48
Camrq Syndrome 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
dysequilibrium syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

MESH via Orphanet35 C535731
ICD10 via Orphanet26 G11.8
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:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar ataxia30.5WDR81
2dysequilibrium syndrome10.8
3vldlr-associated cerebellar hypoplasia10.4
4cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.3
5cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.3
6mental retardation10.2
7ataxia10.2
8cerebral palsy10.1
9cerebritis10.1
10myoclonus10.1
11cerebellar ataxia and mental retardation with or without quadrupedal locomotion 310.1
12diethylstilbestrol syndrome10.1

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:

224050,610185,613227,615268

Symptoms:

48 (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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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:

32
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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0CA8, ATP8A2
2MP:00053788.8CA8, VLDLR, ATP8A2
3MP:00053868.7CA8, 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:

6
id Gene Name 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
8ATP8A2NM_016529.4(ATP8A2): c.1128C> G (p.Ile376Met)single nucleotide variantPathogenicGRCh37Chr 13, 26128001: 26128001
9VLDLRNM_003383.3(VLDLR): c.1247_1253delGTTACAA (p.Tyr417Valfs)deletionPathogenicrs398122380GRCh37Chr 9, 2645017: 2645023
10VLDLRNM_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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Expression patterns in normal tissues for genes affiliated with Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1

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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  • Antibodies
  • Proteins
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Sources for Cerebellar Hypoplasia and Mental Retardation with or Without...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet