Developmental and epileptic encephalopathy 36

Preferred Label : Developmental and epileptic encephalopathy 36;

Symbol : DEE36;

CISMeF acronym : CDG1S; EIEE36;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 36; EIEE36; Congenital disorder of glycosylation, type is; Cdg is; CDGIs; CDG1S;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the homolog of the S. Cerevisiae ALG13 gene (ALG13, 300776.0001);

Laboratory abnormalities : Decreased ALG13 activity (male patient A); Serum transferrin N-glycosylation defect consistent with type I CDG (male patient A);

Prefixed ID : #300884;

Details

Origin ID

300884;

UMLS CUI

C4317295;

Automatic exact mappings (from CISMeF team)
- 2'-CDg [MeSH concept]
- ALG13 UDP-N-acetylglucosaminyltransferase subunit [ORDO Gene]
- ALG13-CDG [ORDO Disease]
- ALG2-CDG [ORDO Disease]
- COG5-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1n (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1s (disorder) [SNOMED CT concept]
- MPDU1-CDG [ORDO Disease]
- PGM1-CDG [ORDO Disease]
- Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- RFT1-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1F [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 36 [NCIt concept]
- developmental and epileptic encephalopathy 36 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 36 [DO Concept]
Genes related to phenotype
- Alg13 udp-n-acetylglucosaminyltransferase subunit [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Anteverted nares [HPO term]
- Cerebral atrophy [HPO term]
- Delayed myelination [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Horizontal nystagmus [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, severe [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Optic atrophy [HPO term]
- Poor eye contact [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Type I transferrin isoform profile [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- ALG13-CDG [ORDO Disease]
See also inter- (CISMeF)
- Congenital Disorder of Glycosylation Type If [NCIt concept]
- congenital disorder of glycosylation, type im [MeSH concept]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type in [MeSH concept]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1s (disorder) [SNOMED CT concept]
- Developmental and Epileptic Encephalopathy 36 [NCIt concept]
Validated automatic mappings to NTBT
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]

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