Congenital disorder of glycosylation, type iif

Preferred Label : Congenital disorder of glycosylation, type iif;

Symbol : CDG2F;

CISMeF acronym : CDG IIF; CDG2F;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIIf; Cdg iif;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 35, CMP-sialic acid transporter, member 1 gene (SLC35A1, 605634.0001);

Laboratory abnormalities : Proteinuria (patient B); Aminoaciduria (patient B); Reduced sialylation; Combined defect in N- and mucin-type O-glycosylation; Isoelectric focusing of patient serum transferrin shows Hypoglycosylation serum transferrin shows a pattern consistent with type II CDG;

Prefixed ID : #603585;

Details

Origin ID

603585;

UMLS CUI

C1970344;

Currated CISMeF NLP mapping
- CMP-sialic acid transporter deficiency [ICD-11 More detail]
- SLC35A1-CDG [ORDO Disease]
- Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIf [Disease (Nov.)]
- congenital disorder of glycosylation type IIf [DO Concept]
- congenital disorder of glycosylation, type IIF [MeSH concept]
- congenital disorder of glycosylation, type IIF [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation type IIf [DO Concept]
Genes related to phenotype
- Solute carrier family 35 (cmp-sialic acid transporter), member 1 [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Aortic regurgitation [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly [HPO term]
- Decreased platelet glycoprotein Ib [HPO term]
- Deeply set eye [HPO term]
- Dysarthria [HPO term]
- Encephalopathy [HPO term]
- Flat occiput [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyporeflexia [HPO term]
- Hypotelorism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Macrothrombocytopenia [HPO term]
- Microcephaly [HPO term]
- Neutropenia [HPO term]
- Nystagmus [HPO term]
- Orofacial dyskinesia [HPO term]
- Poor speech [HPO term]
- Proteinuria [HPO term]
- Pulmonary hemorrhage [HPO term]
- Recurrent bacterial infections [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Subcutaneous hemorrhage [HPO term]
- Thrombocytopenia [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- SLC35A1-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SLC35A1-CDG [ORDO Disease]
- Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIf [Disease (Nov.)]
- congenital disorder of glycosylation type IIf [DO Concept]
- congenital disorder of glycosylation, type IIF [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type IIF [MeSH concept]

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