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SLC35A1-CDG

Disease definition

SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.

ORPHA:238459

Classification level: Disorder
  • Synonym(s):
    • CDG syndrome type IIf
    • CDG-IIf
    • CDG2F
    • CMP-sialic acid transporter deficiency
    • Carbohydrate deficient glycoprotein syndrome type IIf
    • Congenital disorder of glycosylation type 2f
    • Congenital disorder of glycosylation type IIf
  • Prevalence: <1 / 1 000 000
  • Inheritance: No data available 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E77.8
  • ICD-11: 5C54.2
  • OMIM: 603585
  • UMLS: C1970344
  • MeSH: -
  • GARD: 12409
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : 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.