OPA5
MCID: OPT024
MIFTS: 24

Optic Atrophy 5 (OPA5)

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

Aliases & Classifications for Optic Atrophy 5

MalaCards integrated aliases for Optic Atrophy 5:

Name: Optic Atrophy 5 58 54 76 30 13 6 74
Opa5 58 76
Atrophy, Optic, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset in 1st to 3rd decade of life
three unrelated french families have been reported (last curated november 2017)


HPO:

33
optic atrophy 5:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 610708
MeSH 45 D015418
MedGen 43 C1853139
UMLS 74 C1853139

Summaries for Optic Atrophy 5

UniProtKB/Swiss-Prot : 76 Optic atrophy 5: A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia.

MalaCards based summary : Optic Atrophy 5, also known as opa5, is related to cone-rod dystrophy and hearing loss 2. An important gene associated with Optic Atrophy 5 is DNM1L (Dynamin 1 Like). The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are optic atrophy and central scotoma

OMIM : 58 OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). (610708)

Related Diseases for Optic Atrophy 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Optic Atrophy 5

Human phenotypes related to Optic Atrophy 5:

33
# Description HPO Frequency HPO Source Accession
1 optic atrophy 33 HP:0000648
2 central scotoma 33 HP:0000603
3 slow decrease in visual acuity 33 HP:0007924
4 tritanomaly 33 HP:0000552

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
central scotoma
slow decrease in visual acuity
optic nerve atrophy
dyschromatopsia, blue-yellow

Clinical features from OMIM:

610708

Drugs & Therapeutics for Optic Atrophy 5

Drugs for Optic Atrophy 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Heptavalent Pneumococcal Conjugate Vaccine Phase 2, Phase 3,Phase 3
2 Vaccines Phase 2, Phase 3,Phase 3
3 Immunologic Factors Phase 2, Phase 3,Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Vaccine for Reducing Ear and Lung Infections in Children Completed NCT01545375 Phase 2, Phase 3
2 Primary Vaccination With Either Synflorix™ or Prevenar 13™ or Both Vaccines and Booster Vaccination With Synflorix™ Completed NCT01641133 Phase 3

Search NIH Clinical Center for Optic Atrophy 5

Genetic Tests for Optic Atrophy 5

Genetic tests related to Optic Atrophy 5:

# Genetic test Affiliating Genes
1 Optic Atrophy 5 30 DNM1L

Anatomical Context for Optic Atrophy 5

MalaCards organs/tissues related to Optic Atrophy 5:

42
Retina, Eye

Publications for Optic Atrophy 5

Articles related to Optic Atrophy 5:

# Title Authors Year
1
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. ( 28969390 )
2017
2
A third locus for dominant optic atrophy on chromosome 22q. ( 15635063 )
2005

Variations for Optic Atrophy 5

UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy 5:

76
# Symbol AA change Variation ID SNP ID
1 DNM1L p.Glu2Ala VAR_080869
2 DNM1L p.Ala192Glu VAR_080871

ClinVar genetic disease variations for Optic Atrophy 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM1L NM_012062.4(DNM1L): c.305C> T (p.Thr102Met) single nucleotide variant Uncertain significance rs201929226 GRCh37 Chromosome 12, 32861094: 32861094
2 DNM1L NM_012062.4(DNM1L): c.305C> T (p.Thr102Met) single nucleotide variant Uncertain significance rs201929226 GRCh38 Chromosome 12, 32708160: 32708160
3 DNM1L NM_012062.4(DNM1L): c.575C> A (p.Ala192Glu) single nucleotide variant Pathogenic rs1555119216 GRCh37 Chromosome 12, 32866261: 32866261
4 DNM1L NM_012062.4(DNM1L): c.5A> C (p.Glu2Ala) single nucleotide variant Pathogenic rs1555229948 GRCh38 Chromosome 12, 32679368: 32679368
5 DNM1L NM_012062.4(DNM1L): c.5A> C (p.Glu2Ala) single nucleotide variant Pathogenic rs1555229948 GRCh37 Chromosome 12, 32832302: 32832302
6 DNM1L NM_012062.4(DNM1L): c.575C> A (p.Ala192Glu) single nucleotide variant Pathogenic rs1555119216 GRCh38 Chromosome 12, 32713327: 32713327

Expression for Optic Atrophy 5

Search GEO for disease gene expression data for Optic Atrophy 5.

Pathways for Optic Atrophy 5

GO Terms for Optic Atrophy 5

Sources for Optic Atrophy 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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