Glycine encephalopathy 1

Preferred Label : Glycine encephalopathy 1;

Symbol : GCE1;

CISMeF acronym : GCE; NKH; TNH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperglycinemia, nonketotic; NKH; GCE;

Included titles and symbols : Hyperglycinemia, transient neonatal; TNH;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glycine dehydrogenase gene (GLDC, 238300.0001); Caused by mutation in the glycine cleavage system H protein gene (GCSH, 238330.0001); Caused by mutation in the aminomethyltransferase gene (AMT, 238310.0001);

Laboratory abnormalities : Hyperglycinemia; Hyperglycinuria; Hepatic glycine cleavage defect; Elevated CSF/plasma glycine ratio; Elevated CSF glycine;

Prefixed ID : #605899;

Détails

Origin ID

605899;

UMLS CUI

C0751748;

Automatic exact mappings (from CISMeF team)
- Disorders of glycine metabolism [ICD-10 Sub-category (who)]
- Glycine encephalopathy [MedDRA LLT]
- Nonketotic hyperglycinaemia [MedDRA LLT]
- Transient neonatal hyperglycinemia (disorder) [SNOMED CT concept]
- aminomethyltransferase [ORDO Gene]
- aminomethyltransferase [HGNC gene]
- glycine decarboxylase [ORDO Gene]
- glycine decarboxylase [HGNC gene]
- hyperglycinemia, transient neonatal [MeSH concept]
- hyperglycinemia, transient neonatal [MeSH Supplementary Concept]
- transient neonatal hyperglycinemia [SNOMED Notion]
Currated CISMeF NLP mapping
- Glycine Encephalopathy [NCIt concept]
- Glycine encephalopathy [ICD-11 Sub-sub category]
- Glycine encephalopathy [ORDO Disease]
- Non-ketotic hyperglycinemia (disorder) [SNOMED CT concept]
- Nonketotic hyperglycinaemia [MedDRA Preferred Term]
- Nonketotic hyperglycinemia [HPO term]
- Nonketotic hyperglycinemia [MedDRA LLT]
- glycine encephalopathy [Disease (Nov.)]
- glycine encephalopathy [DO Concept]
- hyperglycinemia, nonketotic [MeSH Descriptor]
- hyperglycinemia, nonketotic [MeSH concept]
DO Cross reference
- glycine encephalopathy [DO Concept]
Genes related to phenotype
- Glycine decarboxylase [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Hyperactivity [HPO term]
- Hyperglycinemia [HPO term]
- Hyperglycinuria [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Impulsivity [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Lethargy [HPO term]
- Myoclonus [HPO term]
- Recurrent singultus [HPO term]
- Restlessness [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Atypical glycine encephalopathy [ORDO Disease]
- Glycine encephalopathy [ORDO Disease]
- Infantile glycine encephalopathy [ORDO Disease]
- Neonatal glycine encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- Non-ketotic hyperglycinemia (disorder) [SNOMED CT concept]
- Nonketotic hyperglycinaemia [MedDRA Preferred Term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycine Encephalopathy [NCIt concept]
- Glycine encephalopathy [ORDO Disease]
- Glycine encephalopathy [ICD-11 Sub-sub category]
- Glycine encephalopathy [MedDRA LLT]
- Neonatal glycine encephalopathy [ORDO Disease]
- Non-ketotic hyperglycinemia (disorder) [SNOMED CT concept]
- Nonketotic hyperglycinaemia [MedDRA Preferred Term]
- Nonketotic hyperglycinaemia [MedDRA LLT]
- Nonketotic hyperglycinemia [MedDRA LLT]
- Nonketotic hyperglycinemia [HPO term]
- glycine encephalopathy [DO Concept]
- glycine encephalopathy [Disease (Nov.)]
- hyperglycinemia, nonketotic [MeSH Descriptor]
- hyperglycinemia, nonketotic [MeSH concept]

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