OPA2
MCID: OPT023
MIFTS: 32

Optic Atrophy 2 (OPA2)

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

Aliases & Classifications for Optic Atrophy 2

MalaCards integrated aliases for Optic Atrophy 2:

Name: Optic Atrophy 2 56 12 52 15 71
Opa2 56 12 52 58
Optic Atrophy, Non-Leber Type, with Early Onset 56 52
Optic Atrophy 2, X-Linked 56 13
Optic Atrophy, X-Linked 56 52
Non-Leber Type Optic Atrophy with Early-Onset 58
Early-Onset X-Linked Optic Atrophy 58
X-Linked Optic Atrophy 2 12
Atrophy, Optic, Type 2 39
Optic Atrophy Type 2 58

Characteristics:

Orphanet epidemiological data:

58
early-onset x-linked optic atrophy
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

56
Inheritance:
x-linked


HPO:

31
optic atrophy 2:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111443
OMIM 56 311050
OMIM Phenotypic Series 56 PS165500
ICD10 via Orphanet 33 H47.2
UMLS via Orphanet 72 C1839576
Orphanet 58 ORPHA98890
MedGen 41 C1839576
UMLS 71 C1839576

Summaries for Optic Atrophy 2

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98890 Definition Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. Visit the Orphanet disease page for more resources.

MalaCards based summary : Optic Atrophy 2, also known as opa2, is related to 3-methylglutaconic aciduria, type iii and optic nerve disease. An important gene associated with Optic Atrophy 2 is OPA2 (Optic Atrophy 2 (Obscure)). Affiliated tissues include eye and testes, and related phenotypes are optic atrophy and progressive visual loss

Disease Ontology : 12 An optic atrophy that has material basis in variation in a region on chromosome Xp11.4-p11.21.

More information from OMIM: 311050 PS165500

Related Diseases for Optic Atrophy 2

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

Diseases related to Optic Atrophy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 31.0 TMEM126A OPA3 OPA2 MECR CRYZL1 C12orf65
2 optic nerve disease 29.9 TMEM126A OPA3 C12orf65
3 charcot-marie-tooth disease 28.2 MTMR14 GNB4 DHTKD1 DCAF8 C12orf65
4 arts syndrome 11.7
5 toxic optic neuropathy 10.2 TMEM126A OPA3
6 leber optic atrophy 10.2
7 tooth disease 10.2
8 foster-kennedy syndrome 10.2
9 ocular albinism, x-linked 10.2
10 hereditary optic neuropathy 10.2
11 optic atrophy 6 10.1 TMEM126A OPA3 CRYZL1
12 optic atrophy 8 10.1 TMEM126A OPA3 CRYZL1
13 optic atrophy 4 10.1 TMEM126A OPA3 CRYZL1
14 optic atrophy 7 with or without auditory neuropathy 10.1 TMEM126A OPA3 CRYZL1
15 optic atrophy 5 10.1 TMEM126A OPA3 CRYZL1
16 optic atrophy 3, autosomal dominant 10.1 TMEM126A OPA3 CRYZL1
17 tritanopia 10.0 TMEM126A OPA3 CRYZL1
18 scotoma 10.0 TMEM126A OPA3
19 charcot-marie-tooth disease type 5 10.0
20 3-methylglutaconic aciduria, type v 10.0 TIMM17B OPA3
21 glutaric acidemia i 10.0 DHTKD1 DCAF8
22 neuropathy, hereditary motor and sensory, type via, with optic atrophy 9.9 TMEM126A OPA3 C12orf65
23 behr syndrome 9.8 TMEM126A OPA3 C12orf65
24 ocular motility disease 9.6 CRYZL1 C12orf65

Graphical network of the top 20 diseases related to Optic Atrophy 2:



Diseases related to Optic Atrophy 2

Symptoms & Phenotypes for Optic Atrophy 2

Human phenotypes related to Optic Atrophy 2:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
2 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
3 reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007663
4 color vision defect 58 31 frequent (33%) Frequent (79-30%) HP:0000551
5 optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000543
6 central scotoma 58 31 frequent (33%) Frequent (79-30%) HP:0000603
7 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
8 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
9 decreased nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000762
10 dysdiadochokinesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002075
11 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
12 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
13 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001266
14 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
15 intention tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002080
16 asterixis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012164
17 tremor 31 HP:0001337
18 dysarthria 31 HP:0001260
19 absent achilles reflex 31 HP:0003438
20 abnormality of nervous system physiology 58 Occasional (29-5%)
21 hyperactive patellar reflex 31 HP:0007083

Symptoms via clinical synopsis from OMIM:

56
Neuro:
tremor
dysarthria
dysdiadochokinesis
mental retardation
hyperactive knee jerks
more
Eyes:
early onset optic atrophy

Clinical features from OMIM:

311050

Drugs & Therapeutics for Optic Atrophy 2

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 2

Genetic Tests for Optic Atrophy 2

Anatomical Context for Optic Atrophy 2

MalaCards organs/tissues related to Optic Atrophy 2:

40
Eye, Testes

Publications for Optic Atrophy 2

Articles related to Optic Atrophy 2:

(show all 28)
# Title Authors PMID Year
1
A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. 61 56
16969871 2006
2
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. 56
9382106 1997
3
A family with apparently sex-linked optic atrophy. 56
123591 1975
4
A family with sex linked optic atrophy : Ophthalmological and neurological aspects. 56
27169914 1974
5
Exploring of greater yam (Dioscorea alata L.) genotypes through biochemical screening for better cultivation in south Gujarat zone of India. 61
31564785 2019
6
Genetic variations among three major ethnic groups in Nigeria using RAPD. 61
30046618 2018
7
Identification of a novel phylogenetic lineage of Alternaria alternata causing citrus brown spot in China. 61
25937061 2015
8
Comparison of Alternaria spp. collected in Italy from apple with A. mali and other AM-toxin producing strains. 61
22934716 2012
9
Dominant optic atrophy. 61
22776096 2012
10
Outcomes of vitreoretinal surgery in patients with closed-globe injury. 61
20872356 2011
11
Test-retest variability of intraocular pressure and ocular pulse amplitude for dynamic contour tonometry: a multicentre study. 61
19833616 2010
12
Effect of initial estimates and constraints selection in multivariate curve resolution--alternating least squares. Application to low-resolution NMR data. 61
19393364 2009
13
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. 61
19344448 2009
14
Genotypic and phenotypic analysis of Streptococcus mutans from different oral cavity sites of caries-free and caries-active children. 61
17803628 2007
15
High annealing temperature-random amplified polymorphic DNA (HAT-RAPD) analysis of three paramphistome flukes from Thailand. 61
16889772 2007
16
Management of retinal detachment due to closed globe injury by pars plana vitrectomy with and without scleral buckling. 61
16395136 2006
17
[Genetic polymorphism of Malassezia spp. yeast isolates from individuals with and without dermatological lesions]. 61
16433174 2005
18
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. 61
16158427 2005
19
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. 61
15852396 2005
20
Citrus Black Rot is Caused by Phylogenetically Distinct Lineages of Alternaria alternata. 61
18943316 2005
21
Molecular genetic basis of primary inherited optic neuropathies. 61
15534598 2004
22
Molecular systematics of citrus-associated Alternaria species. 61
21148834 2004
23
Eye lesions and onchocerciasis in a rural farm settlement in Delta state, Nigeria. 61
12118455 2002
24
Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. 61
11910556 2002
25
XLMR genes: update 1998. 61
10208155 1999
26
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. 61
7825232 1994
27
The optic disc in Leber congenital amaurosis. 61
1512668 1992
28
A family with Charcot-Marie-Tooth disease and Leber's optic atrophy. 61
1215391 1975

Variations for Optic Atrophy 2

Expression for Optic Atrophy 2

Search GEO for disease gene expression data for Optic Atrophy 2.

Pathways for Optic Atrophy 2

GO Terms for Optic Atrophy 2

Cellular components related to Optic Atrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.17 TMEM126A TIMM17B OPA3 MECR DHTKD1 DCAF8

Sources for Optic Atrophy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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