Leber plus disease
Synonyms: LHON plus disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leber plus disease | LHON plus disease |
| fr | Maladie de Leber plus | Maladie de LHON plus |
| de | Leber plus-Krankheit | LHON plus-Krankheit |
| es | Enfermedad de Leber 'plus' | Enfermedad de LHON 'plus' |
| it | Malattia di Leber plus | |
| nl | Ziekte van Leber-plus | LHON-plus-ziekte |
| pt | Doença de Leber 'plus' | |
| pl | Choroba Lebera 'plus' | = en |
| cs | Leberova choroba plus | LHON+ |
| uk | Хвороба Лебера плюс | Хвороба LHON плюс |
| zh | Leber+病综合征 | LHON+病 |
| tr | Leber hastalığı | LHON artı hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 165200 | BTNT | validated | |
| OMIM | 500001 | BTNT | validated | |
| ICD-10 | H47.2 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0020478 | E | validated | |
| UMLS | C4304725 | E | validated | |
| GARD | 8476 | 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 (4):
- ORPHA:98671Hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:217613Mitochondrial disease with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-ND3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7458 | ENSG00000198840 | 516002 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | 19458970[PMID] |
| MT-ND4 | Disease-causing germline mutation(s) in | Assessed | HGNC:7459 | ENSG00000198886 | 516003 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | 8644732[PMID] |
| MT-ND6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7462 | ENSG00000198695 | 516006 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | 8016139[PMID]_8644732[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.04 / 100 000 | Europe | Value and class | Validated | ORPHANET |
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/99718
- This record as JSON: /data/d/99718.json