GLUT1 deficiency syndrome; Glucose transport defect of the blood-brain barrier
Description
GLUT1 deficiency syndrome (GLUT1DS) is an autosomal dominant or recessive inborn error of glucose transport across the blood-brain barrier. The majority of patients carry mutations in the SLC2A1 gene encoding the GLUT1 transporter. Defects in the GLUT1 result in low cerebrospinal fluid (CSF) glucose levels termed hypoglycorrhachia. Affected individuals present with mental retardation and learning disabilities; also common are ataxia, dystonia, seizures, and acquired microcephaly.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C61 Disorders of carbohydrate absorption or transport
H00836 GLUT1 deficiency syndrome
08 Diseases of the nervous system
Epilepsy or seizures
8A61 Genetic or presumed genetic syndromes primarily expressed as epilepsy
H00836 GLUT1 deficiency syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00836 GLUT1 deficiency syndrome
Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. Although autosomal dominant inheritance occurs in rare families, clinical genetic data indicate that complex inheritance involving two or more genes is likely in the majority of families.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Epilepsy or seizures
8A61 Genetic or presumed genetic syndromes primarily expressed as epilepsy
H00808 Idiopathic generalized epilepsies
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06528 Calcium signaling
H00808 Idiopathic generalized epilepsies
Cellular process
nt06535 Efferocytosis
H00808 Idiopathic generalized epilepsies
The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Genetic, structural-metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic.
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH
Title
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Moller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Bena F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P
Title
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D
Title
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.
Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
Haemolytic anaemias
Congenital haemolytic anaemia
3A10 Hereditary haemolytic anaemia
H00232 Hereditary stomatocytosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00232 Hereditary stomatocytosis
Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP, Beroud C, Viout P, Bernard M, Soriani O, Vinti H, Lacroze V, Feneant-Thibault M, Thuret I, Guizouarn H, Badens C
Title
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Bruce LJ, Robinson HC, Guizouarn H, Borgese F, Harrison P, King MJ, Goede JS, Coles SE, Gore DM, Lutz HU, Ficarella R, Layton DM, Iolascon A, Ellory JC, Stewart GW
Title
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.