ALG6-CDG
Definicija
ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).
Pretraga
Pun naziv
ALG6-CDG
Kratki naziv
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Sinonimi
Carbohydrate deficient glycoprotein syndrome type IcGlucosyltransferase 1 deficiencyCDG syndrome type IcCDG1CCDG-IcCongenital disorder of glycosylation type 1cCongenital disorder of glycosylation type Ic
Orpha broj
79320
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
NULL
Nasleđivanje
Autosomal recessive
Period početka bolesti
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ICD 10
E77.8
OMIM
603147
UMLS
C2930997
GARD
9829
MEDDRA
Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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