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

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OMIM 57 224050 Orphanet 59 ORPHA1766 ICD10 via Orphanet 34 G11.8 MESH via Orphanet 45 C535731 UMLS via Orphanet 74 C0394006

MedGen 42 C0394006 MeSH 44 D002524 D008607 SNOMED-CT via HPO 69 258211005 128602000 22066006 128306009 193570009 247053007 29356006 162294008 229721007 29164008 62415009 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 398151007 398152000 8011004 224958001 95646004 22325002 23024003 32566006 16026008 86854008 203534009 53226007 25136009 23133003 250067008 30721006 74035001 702322003 237836003 128188000 more UMLS 73 C0394006 C0403559

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1, also known as dysequilibrium syndrome, is related to aceruloplasminemia and cerebellar hypoplasia, and has symptoms including gait ataxia, dysdiadochokinesis and action tremor. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 is VLDLR (Very Low Density Lipoprotein Receptor). Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are intellectual disability and 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 : ⁵⁷ 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 : ⁷⁵ 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 : ⁷⁶ VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES;... more...

GeneReviews: NBK1874

Clinical features from OMIM:

224050

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