CAMRQ1
MCID: CRB106
MIFTS: 41

Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 (CAMRQ1) malady

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

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

Aliases & Descriptions 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 66 29 69
Vldlr-Associated Cerebellar Hypoplasia 23 24 25
Dysequilibrium Syndrome-Vldlr 23 24 25
Camrq1 23 24 66
Des 50 66 3
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 66 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 66
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 66
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 66
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;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 224050
Orphanet 56 ORPHA1766
ICD10 via Orphanet 34 G11.8
MESH via Orphanet 43 C535731
UMLS via Orphanet 70 C0394006
MedGen 40 C0394006

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

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).

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 ataxia, seizures and intellectual disability. 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 Ethanol and Acamprosate have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and eye, and related phenotypes are behavior/neurological and growth/size/body region

OMIM : 54 This form of autosomal recessive cerebellar ataxia is characterized by congenital onset of nonprogressive cerebellar... (224050) more...

UniProtKB/Swiss-Prot : 66 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.

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 spinocerebellar ataxia type 16 10.0 VLDLR WDR81
6 cerebellar ataxia 9.8
7 ataxia 9.8
8 hermansky-pudlak syndrome 3 9.5 ATP8A2 CA8 WDR81
9 restless legs syndrome 3 9.4 ATP8A2 CA8 VLDLR WDR81
10 withdrawal disorder 9.4 ATP8A2 CA8 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 by clinical synopsis from OMIM:

224050

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

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 9.56 ATP8A2 CA8 VLDLR WDR81
2 growth/size/body region MP:0005378 9.46 ATP8A2 CA8 VLDLR WDR81
3 nervous system MP:0003631 9.26 VLDLR WDR81 ATP8A2 CA8
4 vision/eye MP:0005391 8.8 ATP8A2 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 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Acamprosate Approved, Investigational Phase 4 77337-76-9 71158
3 N-Methylaspartate Phase 4
4 Neurotransmitter Agents Phase 4
5 Excitatory Amino Acid Agonists Phase 4
6 Excitatory Amino Acids Phase 4
7 Glutamic Acid Nutraceutical Phase 4
8 Aspartic Acid Nutraceutical Phase 4
9
Lansoprazole Approved, Investigational Phase 2, Phase 3 103577-45-3 3883
10
Dexlansoprazole Phase 2, Phase 3 138530-94-6, 103577-45-3 9578005
11
Proton pump inhibitors Phase 2, Phase 3
12 Gastrointestinal Agents Phase 2, Phase 3
13 Antacids Phase 2, Phase 3
14 Anti-Ulcer Agents Phase 2, Phase 3
15
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
16 Hormones Phase 2
17 glucocorticoids Phase 2
18 Hormone Antagonists Phase 2
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
20 Anti-Inflammatory Agents Phase 2
21 Antineoplastic Agents, Hormonal Phase 2
22 Dialysis Solutions Phase 2
23 Pharmaceutical Solutions Phase 2
24
Menthol Approved 2216-51-5 16666
25
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
26
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
27 insulin
28 Mitogens
29 Insulin, Globin Zinc
30 Vitamin B Complex
31 Gentamicins
32 Folate Nutraceutical
33 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 24)
id Name Status NCT ID Phase
1 Acamprosate: Genes Associated With Response Completed NCT00662571 Phase 4
2 Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery Not yet recruiting NCT02719093 Phase 4
3 Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation Unknown status NCT00789061 Phase 2, Phase 3
4 A Randomized Controlled Single-Blind Study of the Effects of Instrument-Applied Spinal Manipulative Therapy on Postural Control Completed NCT00521469 Phase 2
5 Prednisone Treatment for Vestibular Neuronitis Completed NCT00271791 Phase 2
6 Dialysate Sodium Lowering Trial Recruiting NCT03144817 Phase 2
7 Characterisation of Cortical Vestibular Evoked Potentials (C-VEPs) Unknown status NCT02463695
8 Interval Training and Hormones in Chronic Heart Failure Unknown status NCT02322034
9 Evaluation of a Sensory Enrichment Multimodal Device (SEMD) on Physical Therapy Patients With Disequilibrium Completed NCT01483937
10 Mapping of End Stage Renal Disease Genetic Susceptibility in African Americans by Admixture Linkage Disequilibrium Completed NCT00559767
11 Vestibular Evoked Myogenic Potentials in Benign Paroxysmal Positional Vertigo (VEMP in BPPV) Completed NCT01004913
12 Automatic Adaptive System Dialysis (AASD) Completed NCT01241994
13 Obesity, Physical Inactivity or Dietary Fat ? Completed NCT00434265
14 Investigation of Genetic Disease Marker Associated With Korean Glaucoma Patients Completed NCT01025024
15 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068
16 Genetic Susceptibility to Childhood Respiratory IIlness in Mexico City Completed NCT00339521
17 Immunogenetics of Visceral Leishmaniasis Completed NCT00342823
18 Recovery of Visual Acuity in People With Vestibular Deficits Completed NCT00411216
19 Study of the Role Des Fc Gamma Receptors in Immune Thrombocytopenic Purpura (ITP) Recruiting NCT02821572
20 Family Investigation of Nephropathy and Diabetes (F.I.N.D.) Recruiting NCT00342927
21 Scleroderma Registry Recruiting NCT00074568
22 Genetic Epidemiology of Lung Cancer Recruiting NCT00341835
23 Multichannel Vestibular Implant Early Feasibility Study Recruiting NCT02725463
24 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, Eye, Skeletal Muscle

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...

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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