B4GALT1-CDG
Definicija
B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
Pretraga
Pun naziv
B4GALT1-CDG
Kratki naziv
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Sinonimi
Beta-1,4-galactosyltransferase deficiency_x000D_Congenital disorder of glycosylation type 2d_x000D_Congenital disorder of glycosylation type IId_x000D_CDG syndrome type IId_x000D_CDG2D_x000D_CDG-IId_x000D_Carbohydrate deficient glycoprotein syndrome type IId
Orpha broj
79332
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
NULL
Nasleđivanje
Autosomal recessive
Period početka bolesti
-
ICD 10
E77.8
OMIM
607091
UMLS
C2931009
GARD
9841
MEDDRA
NULL
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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