Congenital disorder of glycosylation with defective fucosylation 1

Preferred Label : Congenital disorder of glycosylation with defective fucosylation 1;

Symbol : CDGF1;

CISMeF acronym : CDGF; CDGF1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGF;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fucosyltransferase 8 gene (FUT8, 602589.0001);

Laboratory abnormalities : Serum analysis shows complete loss of total core fucosylated N-glycans; Glycosylation of serum transferrin is normal;

Prefixed ID : #618005;

Details

Origin ID

618005;

UMLS CUI

C4693905;

Genes related to phenotype
- Fucosyltransferase 8 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad forehead [HPO term]
- Buphthalmos [HPO term]
- Congenital onset [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Hirsutism [HPO term]
- Hypoglycemia [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Kyphoscoliosis [HPO term]
- Limb undergrowth [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Nephrocalcinosis [HPO term]
- Neutropenia [HPO term]
- Osteopenia [HPO term]
- Polyhydramnios [HPO term]
- Respiratory insufficiency [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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