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GTR Home > Conditions/Phenotypes > SLC35A1-congenital disorder of glycosylation

SLC35A1-congenital disorder of glycosylation

Synonyms
CDG IIf; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf; Congenital disorder of glycosylation type 2F; SLC35A1-CDG; SLC35A1-CDG (CDG-IIf)
Modes of inheritance
No inheritance data available (Orphanet)

Summary

An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. [from SNOMEDCT_US]

Available tests

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG2F, CMPST, CST, hCST, SLC35A1
    Summary: solute carrier family 35 member A1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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