OPA4
MCID: OPT059
MIFTS: 16

Optic Atrophy 4 (OPA4)

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

Aliases & Classifications for Optic Atrophy 4

MalaCards integrated aliases for Optic Atrophy 4:

Name: Optic Atrophy 4 58 74
Optic Atrophy-4 13
Opa4 58

Classifications:



External Ids:

OMIM 58 605293
UMLS 74 C1854430

Summaries for Optic Atrophy 4

MalaCards based summary : Optic Atrophy 4, also known as optic atrophy-4, is related to 3-methylglutaconic aciduria, type iii and cone-rod dystrophy and hearing loss 2. An important gene associated with Optic Atrophy 4 is OPA4 (Optic Atrophy 4 (Autosomal Dominant)). The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include eye.

Description from OMIM: 605293

Related Diseases for Optic Atrophy 4

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

# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 11.1
2 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Optic Atrophy 4

Clinical features from OMIM:

605293

Drugs & Therapeutics for Optic Atrophy 4

Drugs for Optic Atrophy 4 (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 4

Genetic Tests for Optic Atrophy 4

Anatomical Context for Optic Atrophy 4

MalaCards organs/tissues related to Optic Atrophy 4:

42
Eye

Publications for Optic Atrophy 4

Variations for Optic Atrophy 4

Expression for Optic Atrophy 4

Search GEO for disease gene expression data for Optic Atrophy 4.

Pathways for Optic Atrophy 4

GO Terms for Optic Atrophy 4

Sources for Optic Atrophy 4

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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