Glutathione synthetase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Pyroglutamicaciduria |
| Number of Symptoms | 4 |
| OrphanetNr: | 32 |
| OMIM Id: |
231900
266130 |
| ICD-10: |
D55.1 |
| UMLs: |
C0398746 C1291643 |
| MeSH: |
C536835 |
| MedDRA: |
|
| Snomed: |
124706000 234589002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 65 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of the gamma-glutamyl cycle
-Rare genetic disease Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -Rare genetic disease -Rare hematologic disease |
Symptom Information:
|
|
(HPO:0012638) | Abnormality of nervous system physiology | Very frequent [Orphanet] | 12 / 7739 | |||
|
|
(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
|
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | Very frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|