ORPHA:33574
Glutamate-cysteine ligase deficiency
Synonyms: Gamma-glutamylcysteine synthetase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glutamate-cysteine ligase deficiency | Gamma-glutamylcysteine synthetase deficiency |
| fr | Déficit en glutamate-cystéine ligase | Déficit en gamma-glutamylcystéine synthétase |
| de | Glutamat-Cystein-Ligase-Mangel | Gamma-Glutamyl-Cystein-Synthetase-Mangel |
| es | Deficiencia de glutamato-cisteína ligasa | Deficiencia de gamma-glutamilcisteína sintetasa |
| it | Deficit di gamma-glutamilcisteina sintetasi | Deficit di glutammato-cisteina ligasi |
| nl | Deficiëntie van glutamaat-cysteïneligase | Deficiëntie van gamma-glutamylcysteïne-synthetase |
| pt | Deficiência de gama-glutamilcisteína sintetase | Deficiência de glutamato-cisteína ligase |
| pl | Niedobór syntetazy gamma-glutamylocysteiny | Nidobór ligazy glutaminy i cysteiny |
| cs | Deficit gamma-glutamylcysteinsyntetázy | Deficit glutamát-cystein ligázy |
| uk | Дефіцит глутамат-цистеїнової лігази | Дефіцит гамма-глутамілцистеїнсинтетази |
| zh | 谷氨酸-半胱氨酸连接酶缺乏 | γ-谷氧酰半胱氨酸合成酶缺乏症 |
| tr | Glutamat-sistein ligaz eksikliği | Gama-glutamilsistein sentetaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 230450 | E | validated | |
| ICD-10 | D55.1 | NTBT | attributed | validated |
| ICD-11 | 3A10.0Y | NTBT | index | validated |
| MONDO | 0009259 | E | validated | |
| UMLS | C0268523 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79196Disorder of the gamma-glutamyl cycle
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98370Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
rare genetic diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GCLC | Disease-causing germline mutation(s) in | Assessed | HGNC:4311 | ENSG00000001084 | 606857 | 6p12.1 | glutamate-cysteine ligase catalytic subunit | 10515893[PMID]_18024385[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 18024385[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18024385[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.
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HPO phenotypes
15 annotations · validated 2019-07-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001878 | Hemolytic anemia | |
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0003198 | Myopathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002503 | Spinocerebellar tract degeneration | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0010522 | Dyslexia | |
| HP:0001263 | Global developmental delay | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0000952 | Jaundice | |
| HP:0000709 | Psychosis | |
| HP:0001923 | Reticulocytosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 17397529[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33574
- This record as JSON: /data/d/33574.json