MCID: OPT025
MIFTS: 21

Optic Atrophy 6

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

Aliases & Classifications for Optic Atrophy 6

MalaCards integrated aliases for Optic Atrophy 6:

Name: Optic Atrophy 6 57 53 13 73
Optic Atrophy, Congenital or Early Infantile, Autosomal Recessive 57 53
Opa6 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
slow progression


HPO:

32
optic atrophy 6:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


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 3-methylglutaconic aciduria, type iii. An important gene associated with Optic Atrophy 6 is OPA6 (Optic Atrophy 6 (Autosomal Recessive)). The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are visual impairment and photophobia

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 10.9
2 3-methylglutaconic aciduria, type iii 10.9

Symptoms & Phenotypes for Optic Atrophy 6

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Optic Atrophy 6:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 photophobia 32 HP:0000613
3 red-green dyschromatopsia 32 HP:0000642
4 optic atrophy 32 HP:0000648

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 Heptavalent Pneumococcal Conjugate Vaccine Phase 3,Phase 2
2 Vaccines 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

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:

41
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 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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