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SLC35A1-CDG

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
Uniprot Description CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Mondo Term and Equivalent IDs
MONDO:0011342:  SLC35A1-CDG
GARD:0012409: 
MESH:C567040: 
Orphanet:238459: 
SCTID:723624008: 
UMLS:C1970344: