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ALG11-CDG
Disease definition
A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).
ORPHA:280071
Classification level: Disorder- Synonym(s):
- CDG syndrome type Ip
- CDG-Ip
- CDG1P
- Carbohydrate deficient glycoprotein syndrome type Ip
- Congenital disorder of glycosylation type 1p
- Congenital disorder of glycosylation type Ip
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- OMIM: 613661
- UMLS: -
- MeSH: -
- GARD: 12396
- MedDRA: -
A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016)
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
Specialised Social Services
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.