Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | |
| fr | Syndrome létal de non-compaction ventriculaire gauche-convulsions-hypotonie-cataracte-retard de développement | |
| de | Letale linksventrikuläre Noncompaction-Kardiomyopathie-Krämpfe-Hypotonie-Katarakt-Entwicklungsverzögerung-Syndrom | |
| es | Síndrome letal de no compactación del ventrículo izquierdo-crisis-hipotonía-cataratas-retraso del desarrollo | |
| it | Sindrome letale ventricolo sinistro non compatto - crisi epilettiche - ipotonia - cataratta - ritardo dello sviluppo | |
| nl | Letaal non-compactie van linkerventrikel - insulten - hypotonie - cataract - ontwikkelingsachterstand-syndroom | |
| pt | Síndrome letal de não compactação do ventrículo esquerdo-convulsões-hipotonia-catarata-perturbação do desenvolvimento | |
| pl | Śmiertelny zespół niescalenia mięśnia lewej komory, drgawek, hipotonii, zaćmy i opóźnienia w rozwoju | |
| cs | Syndrom letálních nekompaktních křečí levé komory, hypotonie, katarakty a opožděného vývoje | |
| uk | Летальний синдром лівошлуночкового неущільнення-судом-гіпотонії-катаракти-затримки розвитку | |
| zh | 致命性左心室肌致密化不全-肌张力低下-白内障-发育迟缓综合征 | |
| tr | Letal sol ventriküler non-kompaksiyon-nöbetler-hipotoni-katarakt-gelişme geriliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617228 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5D0Y | NTBT | attributed | validated |
| MONDO | 0014976 | E | validated | |
| UMLS | C5567603 | 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 (6):
- ORPHA:2443Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:98054Rare genetic cardiac disease
rare genetic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:217678Unclassified cardiomyopathy
rare cardiac diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MIPEP | Disease-causing germline mutation(s) in | Assessed | HGNC:7104 | ENSG00000027001 | 602241 | 13q12.12 | mitochondrial intermediate peptidase | 27799064[PMID]_25778941[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27799064[PMID]_25778941[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27799064[PMID]_25778941[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/478049
- This record as JSON: /data/d/478049.json