Congenital brain dysgenesis due to glutamine synthetase deficiency
Synonyms: Inherited GS deficiency · Inherited glutamine synthetase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurometabolic disease characterized by neonatal onset of severe epileptic encephalopathy with brain malformations (including cerebral and cerebellar atrophy, white matter abnormalities, delayed gyration or complete agyria, and thin corpus callosum), generalized hypotonia, and lack of normal development. Additional features include facial dysmorphism and necrolytic erythema of the skin. Biochemical hallmarks are decreased levels of glutamine in body fluids and chronic hyperammonemia. Death may occur in the early post-natal period due to multiple organ failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital brain dysgenesis due to glutamine synthetase deficiency | Inherited GS deficiency · Inherited glutamine synthetase deficiency |
| fr | Dysgénésie cérébrale congénitale par déficit en glutamine synthétase | Déficit héréditaire en GS · Déficit héréditaire en glutamine synthétase |
| de | Hirnfehlbildung, kongenitale, durch Glutamin-Synthetase-Mangel | Glutamin-Synthetase-Mangel, kongenitaler |
| es | Disgenesia cerebral congénita por deficiencia de glutamina sintetasa | Deficiencia de GS hereditario · Deficiencia de glutamina sintetasa hereditaria · Deficiencia hereditaria de GS · Deficiencia hereditaria de glutamina sintetasa |
| it | Disgenesia cerebrale congenita da deficit di glutammina sintetasi | Deficit ereditario di GS · Deficit ereditario di glutamina sintetasi |
| nl | Congenitale dysgenesie van hersenen door deficiëntie van glutaminesynthetase | Erfelijke GS-deficiëntie · Erfelijke deficiëntie van glutaminesynthetase |
| pt | Disgenesia cerebral congénita por deficiência de glutamina sintetase | |
| pl | Wrodzona dysgenezja mózgu spowodowana niedoborem syntetazy glutaminy | Dziedziczny Niedobór GS · Dziedziczny Niedobór syntetazy glutaminy |
| cs | Vrozená dysgeneze mozku způsobená deficitem glutamin syntetázy | Dědičný deficit GS · Dědičný deficit glutaminsyntetázy |
| uk | Вроджена дисгенезія головного мозку внаслідок дефіциту глутамінсинтетази | Спадковий дефіцит глутамінсинтетази · Спадковий дефіцит ГС |
| zh | 谷氨酰胺合成酶缺乏所致脑发育不全 | 遗传性谷氨酰胺合成酶缺乏症 |
| tr | Glutamin sentetaz eksikliğine bağlı doğumsal beyin disgenezi | Kalıtsal GS eksikliği · Kalıtsal glutamin sentetaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610015 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.Y | NTBT | index | validated |
| MONDO | 0012393 | E | validated | |
| UMLS | C5680112 | E | validated | |
| GARD | 9848 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:289841Disorder of glutamine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLUL | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4341 | ENSG00000135821 | 138290 | 1q25.3 | glutamate-ammonia ligase | 16267323[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 21353613[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21353613[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71278
- This record as JSON: /data/d/71278.json