Congenital disorder of glycosylation, type il

Preferred Label : Congenital disorder of glycosylation, type il;

Symbol : CDG1L;

CISMeF acronym : CDG1L;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg il; CDGIl;

Description : Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-1,2-mannosyltransferase gene (ALG9, 606941.0001);

Laboratory abnormalities : Defective lipid-linked oligosaccharide (LLO) assembly; Hypoglycosylation of serum transferrin, consistent with CDG type I;

Prefixed ID : #608776;

Details

Origin ID

608776;

UMLS CUI

C2931006;

Automatic exact mappings (from CISMeF team)
- ALG2-CDG [ORDO Disease]
- congenital disorders of glycosylation [MeSH Descriptor]
Currated CISMeF NLP mapping
- ALG9-CDG [ORDO Disease]
- Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1L [MeSH concept]
- Mannosyltransferase 7-9 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation Il [DO Concept]
- congenital disorder of glycosylation type 1L [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation Il [DO Concept]
Genes related to phenotype
- Alg9 alpha-1,2-mannosyltransferase [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormal facial shape [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased fetal movement [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Edema [HPO term]
- Epileptic encephalopathy [HPO term]
- Esotropia [HPO term]
- Failure to thrive [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hip dislocation [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Inverted nipples [HPO term]
- Kyphosis [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Pericardial effusion [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Poor speech [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Skeletal dysplasia [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
Not associated HPO term(s)
- Lipodystrophy [HPO term]
ORDO concept(s)
- ALG9-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG9-CDG [ORDO Disease]
- Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1L [MeSH concept]
- congenital disorder of glycosylation type 1L [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients