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DPM1-CDG
Disease definition
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.
ORPHA:79322
Classification level: Disorder- Synonym(s):
- CDG syndrome type Ie
- CDG-Ie
- CDG1E
- Carbohydrate deficient glycoprotein syndrome type Ie
- Congenital disorder of glycosylation type 1e
- Congenital disorder of glycosylation type Ie
- Dol-P-mannosyltransferase deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- ICD-11: 5C54.2
- OMIM: 608799
- UMLS: C1837396
- MeSH: C535743
- GARD: 9831
- MedDRA: -
Summary
Epidemiology
The syndrome has been described in seven children.
Etiology
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.
A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)
Detailed information
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.