Congenital disorder of glycosylation, type iib

Preferred Label : Congenital disorder of glycosylation, type iib;

Symbol : CDG2B;

CISMeF acronym : CDG IIB; CDG2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg iib; CDGIIb; Glucosidase I deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mannosyl-oligosaccharide glucosidase gene (MOGS, 601336.0001);

Laboratory abnormalities : Glucosidase I deficiency in liver and fibroblasts; Hypogammaglobulinemia; Abnormal urinary oligosaccharides;

Prefixed ID : #606056;

Details

Origin ID

606056;

UMLS CUI

C1853736;

Currated CISMeF NLP mapping
- Glucosidase 1 deficiency [ICD-11 More detail]
- MOGS-CDG [ORDO Disease]
- Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIb [Disease (Nov.)]
- congenital disorder of glycosylation type IIb [DO Concept]
- congenital disorder of glycosylation, type IIB [MeSH concept]
- congenital disorder of glycosylation, type IIB [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation type IIb [DO Concept]
Genes related to phenotype
- Mannosyl-oligosaccharide glycosidase [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Decreased circulating antibody level [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hand clenching [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Hypoventilation [HPO term]
- Long eyelashes [HPO term]
- Optic atrophy [HPO term]
- Overlapping fingers [HPO term]
- Prominent occiput [HPO term]
- Recurrent fractures [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short palpebral fissure [HPO term]
- Thoracic scoliosis [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- MOGS-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MOGS-CDG [ORDO Disease]
- Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIb [Disease (Nov.)]
- congenital disorder of glycosylation type IIb [DO Concept]
- congenital disorder of glycosylation, type IIB [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type IIB [MeSH concept]

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