ORPHA:104
Leber hereditary optic neuropathy
Synonyms: LHON · Leber optic atrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adolescent, Adult
- Status
- active
A rare hereditary optic neuropathy characterized by sudden onset, painless central vision loss, loss of retinal ganglion cells and optic atrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leber hereditary optic neuropathy | LHON · Leber optic atrophy |
| fr | Neuropathie optique héréditaire de Leber | Atrophie optique de Leber · LHON |
| de | Leber-Optikusneuropathie, hereditäre | LHON · Leber-Optikusatrophie · Optikus-Neuropathie Typ Leber |
| es | Neuropatía óptica hereditaria de Leber | Atrofia óptica de Leber · LHON · NOHL |
| it | Neuropatia ottica ereditaria di Leber | Atrofia ottica di Leber · LHON |
| nl | Hereditaire opticusneuropathie van Leber | Hereditaire opticusatrofie van Leber · Hereditaire opticusneuropathie van Leber · LHON · LOA · Leber's erfelijke optische neuropathie · Leber's opticusatrofie |
| pt | Neuropatia óptica hereditária de Leber | Atrofia óptica tipo Leber · LHON |
| pl | Dziedziczna neuropatia nerwu wzrokowego Lebera | Atrofia nerwu wzrokowego Lebera · LHON |
| cs | Leberova hereditární optická neuropatie | LHON · Leberova optická atrofie · Dědičná Leberova atrofie |
| uk | Спадкова нейропатія зорового нерва Лебера | Атрофія зорового нерва Лебера · LHON |
| zh | Leber遗传性视神经病 | leber视神经萎缩 |
| tr | Leber kalıtsal optik nöropati | LHON · Leber optik atrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308905 | BTNT | validated | |
| OMIM | 535000 | E | validated | |
| OMIM | 619382 | BTNT | validated | |
| OMIM | 620569 | BTNT | validated | |
| ICD-10 | H47.2 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0010788 | E | validated | |
| MeSH | D029242 | E | validated | |
| UMLS | C0917796 | E | validated | |
| GARD | 6870 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98671Hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders - ORPHA:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
12 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MT-CO1 | Candidate gene tested in | Not yet assessed | HGNC:7419 | ENSG00000198804 | 516030 | mitochondria | mitochondrially encoded cytochrome c oxidase I | 1322638[PMID] |
| DNAJC30 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16410 | ENSG00000176410 | 618202 | 7q11.23 | DnaJ heat shock protein family (Hsp40) member C30 | 33465056[PMID] |
| MT-ATP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7414 | ENSG00000198899 | 516060 | mitochondria | mitochondrially encoded ATP synthase membrane subunit 6 | 20301353[PMID] |
| MT-CO3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7422 | ENSG00000198938 | 516050 | mitochondria | mitochondrially encoded cytochrome c oxidase III | 20301353[PMID] |
| MT-CYB | Disease-causing germline mutation(s) in | Assessed | HGNC:7427 | ENSG00000198727 | 516020 | mitochondria | mitochondrially encoded cytochrome b | 20301353[PMID] |
| MT-ND1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7455 | ENSG00000198888 | 516000 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | 20301353[PMID] |
| MT-ND2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7456 | ENSG00000198763 | 516001 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | 20301353[PMID] |
| MT-ND4 | Disease-causing germline mutation(s) in | Assessed | HGNC:7459 | ENSG00000198886 | 516003 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | 20301353[PMID] |
| MT-ND4L | Disease-causing germline mutation(s) in | Assessed | HGNC:7460 | ENSG00000212907 | 516004 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | 20301353[PMID] |
| MT-ND5 | Disease-causing germline mutation(s) in | Assessed | HGNC:7461 | ENSG00000198786 | 516005 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | 20301353[PMID] |
| MT-ND6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7462 | ENSG00000198695 | 516006 | mitochondria | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | 20301353[PMID] |
| NDUFS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7708 | ENSG00000158864 | 602985 | 1q23.3 | NADH:ubiquinone oxidoreductase core subunit S2 | 28031252[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.6 / 100 000 | Netherlands | Value and class | Validated | 16564802[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.3 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 2.3 / 100 000 | Europe | Value and class | Validated | 21928272[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.22 / 100 000 | United Kingdom | Value and class | Not yet validated | 12518276[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Finland | Value and class | Validated | 17406640[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.9743 / 100 000 | Japan | Value and class | Validated | 35987635[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.85 / 100 000 | Denmark | Value and class | Validated | 27007794[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.
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HPO phenotypes
20 annotations · validated 2024-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200125 | Mitochondrial respiratory chain defects | |
| HP:0007924 | Slow decrease in visual acuity | |
| Frequent (79-30%) | ||
| HP:0000622 | Blurred vision | |
| HP:0000603 | Central scotoma | |
| HP:0000576 | Centrocecal scotoma | |
| HP:0000648 | Optic atrophy | |
| HP:0000529 | Progressive visual loss | |
| HP:0007763 | Retinal telangiectasia | |
| HP:0012841 | Retinal vascular tortuosity | |
| Occasional (29-5%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0011675 | Arrhythmia | |
| HP:0001251 | Ataxia | |
| HP:0000551 | Color vision defect | |
| HP:0003198 | Myopathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002174 | Postural tremor | |
| HP:0032036 | Reduced contrast sensitivity | |
| HP:0020120 | Retinal nerve fiber edema | |
| HP:0004309 | Ventricular preexcitation | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301353[PMID]_36061944[PMID]_20301353[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/104
- This record as JSON: /data/d/104.json