Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)

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Disease Ontology 12 DOID:0050997 OMIM® 57 224050 OMIM Phenotypic Series 57 PS224050 MeSH 44 D002524 D008607 MESH via Orphanet 45 C535731 ICD10 via Orphanet 33 G11.8

UMLS via Orphanet 71 C0394006 Orphanet 58 ORPHA1766 MedGen 41 C0394006 C4551552 SNOMED-CT via HPO 68 128188000 128306009 128602000 128613002 16026008 162294008 193570009 203534009 22066006 22325002 224958001 228156007 229721007 23024003 23133003 237836003 246545002 247053007 247578003 250067008 25136009 258211005 29164008 29356006 30721006 313307000 32566006 398151007 398152000 53226007 62415009 702322003 74035001 8011004 84757009 85102008 86854008 91138005 91175000 95646004 more UMLS 70 C0394006 C0403559

GARD : ²⁰ 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.

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 cerebellum, brain and cortex, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : ¹² An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.

MedlinePlus Genetics : ⁴³ 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).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.

OMIM® : ⁵⁷ CAMRQ1 is an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). (224050) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² 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 : ⁷³ Dysequilibrium syndrome may refer... more...

GeneReviews: NBK1874

Clinical features from OMIM®:

224050 (Updated 20-May-2021)

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