Lethal infantile mitochondrial myopathy
Synonyms: LIMD · LIMM · Lethal infantile mitochondrial disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Infancy, Neonatal
- Status
- active
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal infantile mitochondrial myopathy | LIMD · LIMM · Lethal infantile mitochondrial disease |
| fr | Myopathie mitochondriale létale infantile | LIMD · Maladie mitochondriale létale infantile |
| de | Letale mitochondriale Myopathie des Kindes | LIMD · LIMM · Mitochondriopathie, infantile letale |
| es | Miopatía mitocondrial letal del lactante | Enfermedad mitocondrial letal del lactante · LIMD · LIMM |
| it | Miopatia mitocondriale infantile letale | LIMD · Malattia mitocondriale infantile letale |
| nl | Letale infantiele mitochondriale myopathie | LIMD · LIMM · Letale infantiele mitochondriale ziekte |
| pt | Miopatia mitocondrial da infância letal | Doença mitocondrial da infância letal · LIMD |
| pl | Śmiertelna niemowlęca miopatia mitochondrialna | LIMD · LIMM · Śmiertelna niemowlęca choroba mitochondrialna |
| cs | Dětská letální mitochondriální myopatie | LIMD · Dětská letální mitochondriální porucha |
| uk | Летальна інфантильна мітохондріальна міопатія | Летальна дитяча мітохондріальна хвороба · LIMD · LIMM |
| zh | 致命型婴儿线粒体肌病 | 致命型婴儿线粒体疾病 |
| tr | Letal infantil mitokondriyal miyopati | LIMD · LIMM · Letal infantil mitokondriyal hastalık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 551000 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0010792 | E | validated | |
| MeSH | C564017 | E | validated | |
| UMLS | C1838876 | 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 (1):
- ORPHA:254788Mitochondrial DNA-related mitochondrial myopathy
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-TT | Candidate gene tested in | Not yet assessed | HGNC:7499 | ENSG00000210195 | 590090 | mitochondria | mitochondrially encoded tRNA-Thr (ACN) | 1645537[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
11 annotations · validated 2019-01-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| HP:0000083 | Renal insufficiency | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004900 | Severe lactic acidosis | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0006583 | Fatal liver failure in infancy | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0001254 | Lethargy | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001250 | Seizure | |
Annotation source: 11041514[PMID]_2549452[PMID]_1379415[PMID]_1645537[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254857
- This record as JSON: /data/d/254857.json