MCID: CRB106
MIFTS: 43

Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

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

MalaCards integrated aliases for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:

Name: Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 54 13
Dysequilibrium Syndrome 50 56 71 29 69
Vldlr-Associated Cerebellar Hypoplasia 23 24 25
Dysequilibrium Syndrome-Vldlr 23 24 25
Camrq1 23 24 71
Des 50 71 3
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 71 29
Cerebellar Disorder, Nonprogressive, with Mental Retardation 50 25
Vldlrch 50 25
Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 25
Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 1 71
Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification 25
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome 56
Congenital Cerebellar Ataxia and Mental Retardation Autosomal Recessive 71
Cerebellar Ataxia, Mental Retardation and Dysequilibrium Syndrome 1 24
Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome 56
Cerebellar Ataxia, Mental Retardation,dysequilibrium Syndrome 1 23
Autosomal Recessive Cerebellar Ataxia with Mental Retardation 25
Cerebellar Hypoplasia, Vldlr Associated 50
Cerebellar Hypoplasia, Vldlr-Associated 25
Cerebellar Hypoplasia Vldlr-Associated 71
Dialysis Disequilibrium Syndrome 69
Hutterite Ataxia 24
Camrq Syndrome 56
Des-Vldlr 25
Vldlr-Ch 25
Chmrq1 25

Characteristics:

Orphanet epidemiological data:

56
dysequilibrium syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
nonprogressive disorder
congenital onset
some patients acquire late ambulation


HPO:

32
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1:
Onset and clinical course nonprogressive congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


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

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1766disease definitiondysequilibrium syndrome (des) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.epidemiologyto date, more than 50 individuals have been reported in the world literature.clinical descriptiondes is a congenital disorder characterized by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. gait can be either bipedal or quadrupedal. additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature and pes planus.etiologyetiological subtypes of des have been reported and include type 1 (camrq1), 2 (camrq2), 3 (camrq3) and 4 (camrq4) which are attributed to mutations in vldlr (9p24), ca8 (8q12.1), wdr81 (17p13.3) and atp8a2 (13q12) genes, respectively. vldlr encodes the very low density lipoprotein receptor (vldlr) which is involved in neuronal migration in the cerebral cortex and cerebellum. ca8 encodes a carbonic-anhydrase related protein, whose biological function is not yet fully understood. the function of wdr81 is still unknown. atp8a2 encodes an atpase which is mainly expressed in brain tissue, with the highest levels found in the cerebellum, and that may be critical for the developmental processes of the central nervous system.genetic counselingtransmission is autosomal recessive. genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child.visit the orphanet disease page for more resources. last updated: 3/31/2016

MalaCards based summary : Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1, also known as dysequilibrium syndrome, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 and cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, and has symptoms including short stature, ataxia and strabismus. An important gene associated with Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 is VLDLR (Very Low Density Lipoprotein Receptor). The drugs Acamprosate and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are behavior/neurological and growth/size/body region

UniProtKB/Swiss-Prot : 71 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1: A congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures.

Genetics Home Reference : 25 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).

OMIM : 54
This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). (224050)

GeneReviews: NBK1874

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

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

id Related Disease Score Top Affiliating Genes
1 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10.8
2 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.8
3 cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 10.8
4 cerebellar hypoplasia 10.0
5 cerebellar ataxia 9.8
6 ataxia 9.8
7 bruck syndrome 2 8.5 ATP8A2 CA8 VLDLR WDR81
8 infective endocarditis 8.2 ATP8A2 CA8 VLDLR WDR81
9 hydrocephalus, nonsyndromic, autosomal recessive 2 7.8 ATP8A2 CA8 TUBB2B VLDLR WDR81

Graphical network of the top 20 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 & Phenotypes for Cerebellar Hypoplasia and Mental Retardation with or Without...

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
strabismus
gaze-evoked nystagmus
cataracts, postnatal
saccadic visual pursuit

Neurologic- Central Nervous System:
hypotonia
mental retardation
dysarthria
hyperreflexia
cerebellar hypoplasia
more
Skeletal- Feet:
pes planus


Clinical features from OMIM:

224050

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

56 32 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
4 hyperreflexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001347
5 seizures 56 32 occasional (7.5%) Frequent (79-30%) HP:0001250
6 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
8 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 cerebral palsy 56 32 frequent (33%) Frequent (79-30%) HP:0100021
10 gait disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0001288
11 abnormality of vision 56 32 occasional (7.5%) Occasional (29-5%) HP:0000504
12 skeletal muscle atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0003202
13 dysarthria 32 HP:0001260
14 cerebellar hypoplasia 32 HP:0001321
15 pachygyria 32 HP:0001302
16 global developmental delay 32 HP:0001263
17 poor speech 32 HP:0002465
18 gait ataxia 32 HP:0002066
19 truncal ataxia 32 HP:0002078
20 cerebellar atrophy 32 HP:0001272
21 pes planus 32 HP:0001763
22 broad-based gait 32 HP:0002136
23 intention tremor 32 HP:0002080
24 dysmetria 32 HP:0001310
25 dysdiadochokinesis 32 HP:0002075
26 gaze-evoked nystagmus 32 HP:0000640
27 hypoplasia of the brainstem 32 HP:0002365
28 cortical gyral simplification 32 HP:0009879
29 delayed speech and language development 32 HP:0000750
30 abnormality of the eye 56 Occasional (29-5%)
31 abnormality of metabolism/homeostasis 32 HP:0001939
32 abnormality of movement 56 Frequent (79-30%)

UMLS symptoms related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1:


cerebellar ataxia, action tremor, dysdiadochokinesis, ataxia, truncal, gait ataxia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 VLDLR WDR81 ATP8A2 CA8 TUBB2B
2 growth/size/body region MP:0005378 9.35 ATP8A2 CA8 TUBB2B VLDLR WDR81
3 nervous system MP:0003631 9.02 ATP8A2 CA8 TUBB2B VLDLR WDR81

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

Drugs for Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acamprosate Approved, Investigational Phase 4 77337-76-9 71158
2
Ethanol Approved Phase 4 64-17-5 702
3
Glutamic Acid Approved, Nutraceutical Phase 4 56-86-0 33032
4 Excitatory Amino Acid Agonists Phase 4
5 Excitatory Amino Acids Phase 4
6 Neurotransmitter Agents Phase 4
7 N-Methylaspartate Phase 4
8 Aspartic Acid Nutraceutical Phase 4
9
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
10 Anti-Inflammatory Agents Phase 2
11 Antineoplastic Agents, Hormonal Phase 2
12 glucocorticoids Phase 2
13 Hormone Antagonists Phase 2
14 Hormones Phase 2
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
16
Menthol Approved 2216-51-5 16666
17 insulin
18 Insulin, Globin Zinc
19 Mitogens
20 Gentamicins

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Acamprosate: Genes Associated With Response Completed NCT00662571 Phase 4 acamprosate
2 Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery Not yet recruiting NCT02719093 Phase 4 recombinant FSH
3 Prednisone Treatment for Vestibular Neuronitis Completed NCT00271791 Phase 2 Prednisone;Prednisone
4 Evaluation of a Sensory Enrichment Multimodal Device (SEMD) on Physical Therapy Patients With Disequilibrium Completed NCT01483937
5 Vestibular Evoked Myogenic Potentials in Benign Paroxysmal Positional Vertigo (VEMP in BPPV) Completed NCT01004913
6 Obesity, Physical Inactivity or Dietary Fat ? Completed NCT00434265
7 Scleroderma Registry Recruiting NCT00074568
8 Interval Training and Hormones in Chronic Heart Failure Recruiting NCT02322034
9 Multichannel Vestibular Implant Early Feasibility Study Recruiting NCT02725463
10 Study of Disease Severity in Adults With Neurofibromatosis Type 1 (NF1) Active, not recruiting NCT00111384

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...

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

id Genetic test Affiliating Genes
1 Dysequilibrium Syndrome 29
2 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 29
3 Vldlr-Associated Cerebellar Hypoplasia 24 VLDLR

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

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

39
Brain, Cerebellum, Cortex, Heart, Skeletal Muscle, Eye

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

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

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VLDLR NG_012741.1: g.(?_5001)_(37693_?)del deletion Pathogenic GRCh37 Chromosome 9, 2621793: 2654485
2 VLDLR NM_003383.4(VLDLR): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs80338907 GRCh37 Chromosome 9, 2643480: 2643480
3 VLDLR NM_003383.4(VLDLR): c.2339delT (p.Ile780Thrfs) deletion Pathogenic rs80338906 GRCh37 Chromosome 9, 2651877: 2651877
4 VLDLR NM_003383.4(VLDLR): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs80338905 GRCh37 Chromosome 9, 2645603: 2645603
5 VLDLR NM_003383.4(VLDLR): c.1247_1253delGTTACAA (p.Tyr417Valfs) deletion Pathogenic rs398122380 GRCh37 Chromosome 9, 2645017: 2645023
6 VLDLR NM_003383.4(VLDLR): c.2117G> T (p.Cys706Phe) single nucleotide variant Pathogenic rs397514750 GRCh37 Chromosome 9, 2650382: 2650382
7 VLDLR NM_003383.4(VLDLR): c.83-1G> A single nucleotide variant Pathogenic rs770269674 GRCh37 Chromosome 9, 2635452: 2635452

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

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

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

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

Cellular components related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 8.32 VLDLR

Biological processes related to Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 8.62 ATP8A2 VLDLR

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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