ORPHA:557056
Spastic ataxia-dysarthria due to glutaminase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic ataxia-dysarthria due to glutaminase deficiency | |
| fr | Ataxie spastique-dysarthrie par déficit en glutaminase | |
| de | Spastische Ataxie mit Dysarthrie durch Glutaminase-Mangel | |
| es | Ataxia espástica-disartria por deficiencia de glutaminasa | |
| it | Atassia spastica associata a disartria da deficit di glutaminasi | |
| nl | Spastische ataxie-dysartrie door glutaminasedeficiëntie | |
| pt | Ataxia espástica-disartria por deficiência de glutaminase | |
| pl | Ataksja spastyczna i dyzartria z powodu deficytu glutaminazy | |
| cs | Spastické ataxie-dysartrie z glutaminázového deficitu | |
| uk | Спастична атаксія-дизартрія, зумовлена дефіцитом глутамінази | |
| zh | 谷氨酰胺酶缺乏诱导的痉挛性共济失调-构音障碍 | |
| tr | Glutaminaz eksikliğine bağlı spastik ataksi-dizartri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618412 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.Y | NTBT | attributed | validated |
| MONDO | 0034146 | E | validated | |
| UMLS | C5681336 | 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 (3):
- ORPHA:316240Autosomal recessive spastic ataxia
rare genetic diseases; rare neurological diseases - ORPHA:289841Disorder of glutamine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4331 | ENSG00000115419 | 138280 | 2q32.2 | glutaminase | 30575854[PMID]_30970188[PMID]_30987386[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 29468182[PMID]_30987386[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29468182[PMID]_30987386[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/557056
- This record as JSON: /data/d/557056.json