CAMRQ1
MCID: CRB185
MIFTS: 55
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Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:
Characteristics:Orphanet epidemiological data:58
dysequilibrium syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy; OMIM:56
Miscellaneous:
congenital onset nonprogressive disorder some patients acquire late ambulation
Inheritance:
autosomal recessive HPO:31
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset nonprogressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1766 Definition Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability , delayed ambulation and cerebellar hypoplasia. Epidemiology To date, more than 50 individuals have been reported in the world literature. Clinical description DES 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. Etiology Etiological 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 counseling Transmission 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.
MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1, also known as dysequilibrium syndrome, is related to cerebellar ataxia, nonprogressive, with mental retardation and cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, and has symptoms including dysdiadochokinesis, gait ataxia and action tremor. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 is VLDLR (Very Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. The drug carbamide peroxide has been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and eye, and related phenotypes are intellectual disability and muscular hypotonia Disease Ontology : 12 An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. 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). VLDLR VLDLR Additional features of VLDLR-associated cerebellar hypoplasia include moderate to profound intellectual disability, impaired speech (dysarthria) or a lack of speech, and eyes that do not look in the same direction (strabismus). Some affected individuals have also had flat feet (pes planus), seizures, and short stature. Studies suggest that VLDLR-associated cerebellar hypoplasia does not significantly affect a person's life expectancy. VLDLR VLDLR OMIM : 56 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) UniProtKB/Swiss-Prot : 73 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. Wikipedia : 74 Dysequilibrium syndrome may refer... more...
GeneReviews:
NBK1874
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Human phenotypes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:58 31 (show all 35)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:224050UMLS symptoms related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:dysdiadochokinesis, gait ataxia, action tremor, cerebellar ataxia, ataxia, truncal |
Drugs for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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Genetic tests related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:
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MalaCards organs/tissues related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:40
Brain,
Cerebellum,
Eye,
Cortex,
Kidney,
Skeletal Muscle,
Pituitary
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Articles related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:(show top 50) (show all 76)
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ClinVar genetic disease variations for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1:6 (show top 50) (show all 105)
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Search
GEO
for disease gene expression data for Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1.
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Pathways related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 according to GeneCards Suite gene sharing:
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Cellular components related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 according to GeneCards Suite gene sharing:(show all 11)
Biological processes related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 according to GeneCards Suite gene sharing:
Molecular functions related to Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 according to GeneCards Suite gene sharing:
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