OPA6
MCID: OPT025
MIFTS: 22

Optic Atrophy 6 (OPA6)

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

Aliases & Classifications for Optic Atrophy 6

MalaCards integrated aliases for Optic Atrophy 6:

Name: Optic Atrophy 6 58 54 13 74
Optic Atrophy, Congenital or Early Infantile, Autosomal Recessive 58 54
Opa6 58 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
slow progression


HPO:

33
optic atrophy 6:
Onset and clinical course infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Optic Atrophy 6

MalaCards based summary : Optic Atrophy 6, also known as optic atrophy, congenital or early infantile, autosomal recessive, is related to optic atrophy 1 and perrault syndrome 1. An important gene associated with Optic Atrophy 6 is OPA6 (Optic Atrophy 6 (Autosomal Recessive)). The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are visual impairment and optic atrophy

Description from OMIM: 258500

Related Diseases for Optic Atrophy 6

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

# Related Disease Score Top Affiliating Genes
1 optic atrophy 1 11.1
2 perrault syndrome 1 11.1
3 3-methylglutaconic aciduria, type iii 11.1

Symptoms & Phenotypes for Optic Atrophy 6

Human phenotypes related to Optic Atrophy 6:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 optic atrophy 33 HP:0000648
3 photophobia 33 HP:0000613
4 red-green dyschromatopsia 33 HP:0000642

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
optic atrophy, isolated
photophobia, moderate
dyschromatopsia with red-green confusion
visual acuity for distant vision ranges from 1/10 to 2/10 as adult
no retinal degeneration
more

Clinical features from OMIM:

258500

Drugs & Therapeutics for Optic Atrophy 6

Drugs for Optic Atrophy 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Primary Vaccination Course in Children Receiving the Pneumococcal Vaccine GSK 1024850A, Zilbrix™ Hib and Polio Sabin™ Completed NCT00678301 Phase 3
2 Evaluation of a Vaccine for Reducing Ear and Lung Infections in Children Completed NCT01545375 Phase 2, Phase 3

Search NIH Clinical Center for Optic Atrophy 6

Genetic Tests for Optic Atrophy 6

Anatomical Context for Optic Atrophy 6

MalaCards organs/tissues related to Optic Atrophy 6:

42
Lung

Publications for Optic Atrophy 6

Variations for Optic Atrophy 6

Expression for Optic Atrophy 6

Search GEO for disease gene expression data for Optic Atrophy 6.

Pathways for Optic Atrophy 6

GO Terms for Optic Atrophy 6

Sources for Optic Atrophy 6

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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