Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Synonyms: COXPD12 · Combined oxidative phosphorylation defect type 12 · LTBL
- Type
- Disease
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | COXPD12 · Combined oxidative phosphorylation defect type 12 · LTBL |
| fr | Syndrome de leucoencéphalopathie-anomalies du thalamus et du tronc cérébral-hyperlactatémie | COXPD12 · Déficit combiné de la phosphorylation oxydative type 12 · LTBL |
| de | Leukoenzephalopathie-Thalamus und Hirnstamm-Anomalien-Hoher Laktatwert-Syndrom | COXPD12 · Kombinierter Defekt der oxidativen Phosphorylierung Typ 12 · LTBL |
| es | Síndrome de leucoencefalopatía-anomalías del tálamo y tallo cerebral-lactato elevado | COXPD12 · Deficiencia combinada de la fosforilación oxidativa tipo 12 · LTBL |
| it | Sindrome leucoencefalopatia-anomalie del talamo e del tronco encefalico-livelli elevati di lattato | COXPD12 · Difetto combinato della fosforilazione ossidativa, tipo 12 · LTBL |
| nl | Leuko-encefalopathie - anomalieën van thalamus en hersenstam - hoog lactaatgehalte-syndroom | COXPD12 · Gecombineerde oxidatieve fosforylatiedeficiëntie type 12 · Gecombineerde oxidatieve fosforyleringdeficiëntie type 12 · LTBL |
| pt | Leucoencefalopatia - anomalias do tronco cerebral e talamus - lactato elevado | LTBL |
| pl | Zespół leukoencefalopatii, wad podwzgórza i pnia mózgu i wysokiego poziomu mleczanów | LTBL · COXPD12 · Złożony defekt fosforylacji oksydacyjnej typu 12 |
| cs | Syndrom zahrnující leukoencefalopatii, anomálie thalamu a mozkového kmene a vysokou hladinu laktátu | COXPD12 · Kombinovaný deficit oxidativní fosforylace, typ 12 · LTBL |
| uk | Синдром лейкоенцефалопатії-аномалій таламуса та стовбура мозк-підвищеного лактату | Комбінований дефект окисного фосфорилювання, тип 12 · COXPD12 · LTBL |
| zh | 脑白质病-丘脑脑干异常-高乳酸综合征 | 联合氧化磷酸化缺陷12型 |
| tr | Lökoensefalopati-talamus ve beyin sapı anomalileri-yüksek laktat sendromu | LTBL · COXPD12 · Kombine oksidatif fosforilasyon defekti tip 12 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614924 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.23 | NTBT | attributed | validated |
| MONDO | 0013971 | E | validated | |
| UMLS | C4706421 | E | validated | |
| GARD | 12893 | 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:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:29419 | ENSG00000103356 | 612799 | 16p12.2 | glutamyl-tRNA synthetase 2, mitochondrial | 22492562[PMID]_24501781[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 22492562[PMID]_23008233[PMID]_25854774[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22492562[PMID]_23008233[PMID]_25854774[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/314051
- This record as JSON: /data/d/314051.json