Disorder "Leber Hereditary Optic Neuropathy"
Found 3 records
Disorder information
Disorder name:
Leber Hereditary Optic Neuropathy
Disoder ID:
OMIM entry:
Synonyms:
Leber's optic atrophy, Leber's hereditary optic neuropathy
Definition:
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females.
Modifier statisitcs
Record:
3
Gene:
3
Variant:
3
Reference:
2
Effect type:
Expressivity(2)
,Penetrance(1)
Modifier effect:
Risk factor(2)
,Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| tRNAMet | tRNAMet:c.A4435G | Penetrance | Altered incidence | Pedigree analysis | The novel tRNAMet A4435G mutation has a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family.more | more |
| MT-ND6 | MT-ND6:n.14484T>C | Expressivity | Risk factor | Pedigree analysis | The A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutationmore | more |
| 12SrRNA | 12SrRNA:c.A1555G | Expressivity | Risk factor | Pedigree analysis | The A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutationmore | more |
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