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Celia Encephalopathy has been included in OMIM (Online Mendelian Inheritance in Man) with reference number # 615924 and the acronym PELD (Progressive Encephalopathy With or without lipodystrophy).
The Mendelian Inheritance in Man (MIM) project is a database that catalogs all the known diseases with a genetic component, and when possible, the association of the genes in the human genome.
In this database a description of the disease, its clinical features, inheritance and molecular genetics offers.
The first thing is the identification code is followed by the name or different names for the disease.
They also come in a table specified phenotype, phenotype code, the code of the gene, the incidence of the disease, the molecular basis of the same symptoms or date the disease was first described.
Celia's encephalopathy is a severe neurodegenerative disorder associated with mutation in the gene BSCL2 characterized by regression in the development of motor and cognitive skills in the early years of life.
It was discovered by a group of Spanish researchers, David Araújo-Vilar and Jesus Requena, University of Santiago de Compostela (USC), in collaboration with two experts from the University Hospital Virgen de la Arrixaca of Murcia, Drs Encarna Guillen and Rosario Domingo, who described in 2013 a new children neurodegenerative syndrome with genetic and molecular bases.
This disease -called Celia encephalopathy in memory of the first known case, the daughter of the president of the Spanish Federation for Rare Diseases (FEDER) and the Association D'Genes, Juan Carrion, and the president of the Spanish Association of People Affected by lipodystrophy (AELIP), Pérez de Tudela Naca begins in early childhood as a psychomotor retardation, and from three to four years children experience a neurodegenerative process that leads to death before nine.
Now, this condition has been included in OMIM, a complete compendium of human genes and genetic phenotypes that contains information on all known Mendelian disorders and over 12,000 genes.
This database was started in 1960 by Dr. Victor A. McKusick as a catalog of traits and Mendelian disorders entitled Mendelian Inheritance in Man (MIM) and in 1985 the online version (OMIM) was created by a collaboration between the National Library of Medicine and the William H. Welch Medical Library at Johns Hopkins University in the United States.
OMIM is written and edited McKusick-Nathans in the Institute of Genetic Medicine, Faculty of Medicine at Johns Hopkins.
Source: AELIP
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