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

-

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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