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Autosomal dominant optic atrophy plus syndrome
1 OMIM reference -
2 associated genes
53 connected diseases
10 signs/symptoms
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant optic atrophy, classic type
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy type 6
Severe early-onset axonal neuropathy due to MFN2 deficiency
Young adult-onset Parkinsonism
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Burkitt lymphoma
Precursor T-cell acute lymphoblastic leukemia
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Behavioral variant of frontotemporal dementia
Benign adult familial myoclonic epilepsy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Estrogen resistance syndrome
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Intellectual deficit, X-linked, Turner type
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Progressive non-fluent aphasia
Pseudohypoaldosteronism type 2E
Semantic dementia
Spastic paraplegia - Paget disease of bone
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Mitochondrial trifunctional protein deficiency
Synonym(s):
- DOA+
- Optic atrophy - deafness- polyneuropathy - myopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the ear and mastoid process -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MFN2 O95140608507
OPA1 O60313605290
Very frequent
- Autosomal dominant inheritance
- Insensitivity to pain
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Sensorineural deafness / hearing loss

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Areflexia / hyporeflexia
- Mild visual loss / impaired visual acuity

Occasional
- Abnormal VEP / Visual evoked potential
- Nerve conduction abnormality
- Strabismus / squint