DPM1-CDG

Definicija

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

Pretraga

Pun naziv

DPM1-CDG

Kratki naziv

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Sinonimi

CDG1ECDG-IeCDG syndrome type IeDol-P-mannosyltransferase deficiencyCarbohydrate deficient glycoprotein syndrome type IeCongenital disorder of glycosylation type IeCongenital disorder of glycosylation type 1e

Orpha broj

79322

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

NULL

Nasleđivanje

Autosomal recessive

Period početka bolesti

-

ICD 10

Macedonian

OMIM

608799

UMLS

C1837396

GARD

9831

MEDDRA

NULL
Tekstualni opis
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Etiologija
It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1.
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
The syndrome has been described in seven children.
Genetsko savetovanje
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Terapija
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Klinička istraživanja
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