ORPHA:71277
Classic glucose transporter type 1 deficiency syndrome
Synonyms: Classic GLUT1 deficiency syndrome · Classic GLUT1-DS · De Vivo disease · Encephalopathy due to GLUT1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare inborn error of metabolism characterized by encephalopathy due to impaired glucose transport into neural cells. The most frequent clinical manifestations are epilepsy, intellectual disability and movement disorder.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Classic glucose transporter type 1 deficiency syndrome | Classic GLUT1 deficiency syndrome · Classic GLUT1-DS · De Vivo disease · Encephalopathy due to GLUT1 deficiency |
| fr | Syndrome de déficit en transporteur du glucose de type 1, forme classique | Encéphalopathie par déficit en GLUT1 · GLUT1-DS, forme classique · Maladie de De Vivo · Syndrome de déficit en GLUT1, forme classique |
| de | Klassisches Glukosetransporter-Typ-1-Mangel-Syndrom | De Vivo-Krankheit · Enzephalopathie durch GLUT1-Defekt · GLUT1-Defekt, klassisch · GLUT1-Defizienz-Syndrom, klassische Form · Glut1-DS |
| es | Síndrome de deficiencia del transportador de glucosa tipo 1 clásico | Encefalopatía por deficiencia de GLUT1 · Enfermedad de De Vivo · Síndrome de deficiencia de GLUT1 clásico |
| it | Encefalopatia da deficit di GLUT1 | Deficit dei trasportatori del glucosio, tipo 1 · Glut1-DS · Malattia di De Vivo · Sindrome da deficit di Glut-1 |
| nl | Klassiek glucosetransporter type 1-deficiëntie-syndroom | Encefalopathie door GLUT1-deficiëntie · Klassiek GLUT1-DS · Klassiek GLUT1-deficiëntie-syndroom · Ziekte van De Vivo |
| pt | Síndrome de deficiência de transportador da glucose tipo 1 clássico | Encefalopatia por deficiência de GLUT1 |
| pl | Encefalopatia spowodowana niedoborem GLUT1 | Choroba De Vivo · Glut1-DS · Niedobór transportera glukozy typu 1 · Zespół niedoboru Glut-1 |
| cs | Encefalopatie způsobená deficitem GLUT1 | De Vivova nemoc · Deficit glukózového transportéru, typ 1 · Syndrom deficitu Glut-1 · Glut1-DS |
| uk | Класичний синдром дефіциту транспортера глюкози 1-го типу | Класичний синдром дефіциту GLUT1 · Класичний GLUT1-DS · Захворювання de Vivo · Енцефалопатія внаслідок дефіциту GLUT1 |
| zh | 经典型葡萄糖转运体1缺乏综合征 | GLUT1缺乏所致脑病 |
| tr | Klasik glukoz taşıyıcı tip 1 eksikliği sendromu | De Vivo hastalığı · Klasik GLUT1-DS · Klasik GLUT1 eksikliği sendromu · GLUT1 eksikliğine bağlı ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606777 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C61.5 | NTBT | index | validated |
| MONDO | 0011724 | E | validated | |
| UMLS | C4551966 | E | validated | |
| GARD | 9265 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:79178Glucose transport disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2816Spastic paraplegia-epilepsy-intellectual disability syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC2A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11005 | ENSG00000117394 | 138140 | 1p34.2 | solute carrier family 2 member 1 | 20301603[PMID]_23890838[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.26 / 100 000 | Norway | Value and class | Validated | 32913944[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.11 / 100 000 | Australia | Value and class | Validated | 16712556[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.538 / 100 000 | Worldwide | Value and class | Validated | ORPHANET_32913944[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.2 / 100 000 | Denmark | Value and class | Validated | 26537434[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.
6
HPO phenotypes
33 annotations · validated 2017-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001877 | Abnormal erythrocyte morphology | |
| HP:0001251 | Ataxia | |
| HP:0001332 | Dystonia | |
| HP:0002353 | EEG abnormality | |
| HP:0001298 | Encephalopathy | |
| HP:0001263 | Global developmental delay | |
| HP:0011972 | Hypoglycorrhachia | |
| HP:0000253 | Progressive microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0002133 | Status epilepticus | |
| Frequent (79-30%) | ||
| HP:0002072 | Chorea | |
| HP:0001266 | Choreoathetosis | |
| HP:0001289 | Confusion | |
| HP:0000961 | Cyanosis | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0100660 | Dyskinesia | |
| HP:0007308 | Extrapyramidal dyskinesia | |
| HP:0007034 | Generalized hyperreflexia | |
| HP:0002315 | Headache | |
| HP:0001269 | Hemiparesis | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001254 | Lethargy | |
| HP:0003552 | Muscle stiffness | |
| HP:0003470 | Paralysis | |
| HP:0007704 | Paroxysmal involuntary eye movements | |
| Occasional (29-5%) | ||
| HP:0002186 | Apraxia | |
| HP:0002871 | Central apnea | |
| HP:0001336 | Myoclonus | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 17718830[PMID]_15132717[PMID]_19304421[PMID]_NBK1430[PMID]_20063428[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71277
- This record as JSON: /data/d/71277.json