MCID: OPT060
MIFTS: 21

Optic Atrophy 8

Categories: Eye diseases, Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Optic Atrophy 8

MalaCards integrated aliases for Optic Atrophy 8:

Name: Optic Atrophy 8 57 29
Atrophy, Optic, Type 8 40
Opa8 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of visual loss in the first or second decades
hearing loss occurs later if at all
one large italian kindred has been reported (last curated november 2015)


HPO:

32
optic atrophy 8:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Optic Atrophy 8

OMIM : 57 Optic atrophy-8 (OPA8) is an autosomal dominant neurologic disorder characterized by progressive visual loss during the first or second decade of life. Some patients may have additional features, mainly late-onset sensorineural hearing loss. For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). (616648)

MalaCards based summary : Optic Atrophy 8, also known as atrophy, optic, type 8, is related to 3-methylglutaconic aciduria, type iii. An important gene associated with Optic Atrophy 8 is OPA8 (Optic Atrophy 8 (Autosomal Dominant)). Affiliated tissues include skeletal muscle, and related phenotypes are sensorineural hearing impairment and visual impairment

Related Diseases for Optic Atrophy 8

Diseases in the Primary Optic Atrophy family:

Optic Atrophy 3, Autosomal Dominant Optic Atrophy 1
Optic Atrophy 6 Optic Atrophy 2
Optic Atrophy 4 Optic Atrophy 5
Optic Atrophy 9 Optic Atrophy 8
Optic Atrophy 11 Autosomal Dominant Optic Atrophy Plus Syndrome

Diseases related to Optic Atrophy 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 11.3

Symptoms & Phenotypes for Optic Atrophy 8

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic atrophy
visual loss
central scotoma
diffuse reduction in retinal nerve fiber layer
abnormal pattern visual evoked potentials

Head And Neck Ears:
hearing loss, sensorineural (in some patients)
abnormal brainstem auditory evoked potentials (in some patients)

Neurologic Central Nervous System:
increased conduction time of somatosensory evoked potentials (in some patients)

Cardiovascular Heart:
mitral valve prolapse (in some patients)
mitral valve insufficiency (in some patients)

Muscle Soft Tissue:
subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy
mildly increased mtdna

Laboratory Abnormalities:
fibroblasts show some mitochondrial abnormalities, such as increased mitochondrial fusion


Clinical features from OMIM:

616648

Human phenotypes related to Optic Atrophy 8:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 visual impairment 32 HP:0000505
3 visual loss 32 HP:0000572
4 central scotoma 32 very rare (1%) HP:0000603
5 optic atrophy 32 HP:0000648
6 mitral valve prolapse 32 very rare (1%) HP:0001634
7 mitral regurgitation 32 occasional (7.5%) HP:0001653
8 abnormal auditory evoked potentials 32 very rare (1%) HP:0006958
9 prolonged somatosensory evoked potentials 32 HP:0007104
10 abnormality of pattern visual evoked potentials 32 HP:0030455

Drugs & Therapeutics for Optic Atrophy 8

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 8

Genetic Tests for Optic Atrophy 8

Genetic tests related to Optic Atrophy 8:

# Genetic test Affiliating Genes
1 Optic Atrophy 8 29

Anatomical Context for Optic Atrophy 8

MalaCards organs/tissues related to Optic Atrophy 8:

41
Skeletal Muscle

Publications for Optic Atrophy 8

Variations for Optic Atrophy 8

Expression for Optic Atrophy 8

Search GEO for disease gene expression data for Optic Atrophy 8.

Pathways for Optic Atrophy 8

GO Terms for Optic Atrophy 8

Sources for Optic Atrophy 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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