Glutamine deficiency, congenital

Preferred Label : Glutamine deficiency, congenital;

Symbol : GLND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glutamine synthase deficiency, congenital systemic;

Description : Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities. Three patients have been reported (summary by Haberle et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutamate-ammonia ligase gene (GLUL, 138290.0001);

Laboratory abnormalities : Decreased glutamine in bodily fluids; Hyperammonemia;

Prefixed ID : #610015;

Details

Origin ID

610015;

UMLS CUI

C1864910;

Currated CISMeF NLP mapping
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ICD-11 More detail]
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ORDO Disease]
- Glutamine deficiency, congenital [MeSH concept]
- glutamine deficiency, congenital [MeSH Supplementary Concept]
Genes related to phenotype
- Glutamate-ammonia ligase [OMIM gene]
HPO term(s)
- Antenatal onset [HPO term]
- Anteverted nares [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Brain atrophy [HPO term]
- CNS hypomyelination [HPO term]
- Camptodactyly [HPO term]
- Decreased CSF glutamine concentration [HPO term]
- Depressed nasal bridge [HPO term]
- Dilation of lateral ventricles [HPO term]
- Encephalopathy [HPO term]
- Erythema [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Hyperammonemia [HPO term]
- Hypoglutaminemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Low-set ears [HPO term]
- Lower limb hyperreflexia [HPO term]
- Micromelia [HPO term]
- Neonatal death [HPO term]
- Neonatal respiratory distress [HPO term]
- Recurrent respiratory infections [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short nose [HPO term]
- Subependymal cysts [HPO term]
- Thin vermilion border [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ORDO Disease]
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ICD-11 More detail]
- Glutamine deficiency, congenital [MeSH concept]
- glutamine deficiency, congenital [MeSH Supplementary Concept]

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