DK1-CDG
Definicija
DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.
Pretraga
Pun naziv
DK1-CDG
Kratki naziv
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Sinonimi
CDG-Im_x000D_Congenital disorder of glycosylation type 1m_x000D_Dolichol kinase deficiency_x000D_CDG syndrome type Im_x000D_CDG1M_x000D_Congenital disorder of glycosylation type Im_x000D_Hypotonia and ichthyosis due to dolichol phosphate deficiency_x000D_Carbohydrate deficient glycoprotein syndrome type Im
Orpha broj
91131
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
610768
UMLS
C1835849
GARD
12393
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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