OPA2
MCID: OPT023
MIFTS: 32

Optic Atrophy 2 (OPA2)

Categories: 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 57 12 20 15 71
Opa2 57 12 20 58
Optic Atrophy, Non-Leber Type, with Early Onset 57 20
Optic Atrophy 2, X-Linked 57 13
Optic Atrophy, X-Linked 57 20
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®:

57 (Updated 05-Mar-2021)
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® 57 311050
OMIM Phenotypic Series 57 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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98890DefinitionEarly-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 optic nerve disease and 3-methylglutaconic aciduria, type iii. An important gene associated with Optic Atrophy 2 is OPA2 (Optic Atrophy 2 (Obscure)). Affiliated tissues include eye, 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 Optic Atrophy 12

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 optic nerve disease 29.5 TMEM126A OPA3 MTRFR DCAF8
2 3-methylglutaconic aciduria, type iii 28.9 TMEM126A OPA3 OPA2 MTRFR MECR DCAF8
3 optic atrophy 6 10.2 TMEM126A OPA3
4 toxic optic neuropathy 10.2 TMEM126A OPA3
5 optic atrophy 8 10.2 TMEM126A OPA3
6 optic atrophy 4 10.2 TMEM126A OPA3
7 optic atrophy 7 with or without auditory neuropathy 10.2 TMEM126A OPA3
8 tritanopia 10.2 TMEM126A OPA3
9 optic atrophy 5 10.2 TMEM126A OPA3
10 optic atrophy 3, autosomal dominant 10.1 TMEM126A OPA3
11 3-methylglutaconic aciduria, type v 10.1 TIMM17B OPA3
12 scotoma 10.1 TMEM126A OPA3
13 cranial nerve disease 10.0 OPA3 DCAF8
14 glutaric acidemia i 10.0 DHTKD1 DCAF8
15 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.0 TMEM126A OPA3 MTRFR
16 behr syndrome 9.9 TMEM126A OPA3 MTRFR
17 leber hereditary optic neuropathy, modifier of 9.9
18 charcot-marie-tooth disease 9.9
19 tooth disease 9.9
20 foster-kennedy syndrome 9.9
21 ocular albinism, x-linked 9.9
22 hereditary optic neuropathy 9.9
23 neuropathy 9.5 TMEM126A NDUFB11 MTRFR DCAF8 ATL3
24 charcot-marie-tooth disease, axonal, type 2e 9.5 MTRFR DHTKD1 DCAF8

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 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
10 decreased nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000762
11 dysdiadochokinesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002075
12 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
13 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
14 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001266
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 dysarthria 31 HP:0001260
18 tremor 31 HP:0001337
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®:

57 (Updated 05-Mar-2021)
Neuro:
dysarthria
tremor
dysdiadochokinesis
mental retardation
hyperactive knee jerks
more
Eyes:
early onset optic atrophy

Clinical features from OMIM®:

311050 (Updated 05-Mar-2021)

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

Publications for Optic Atrophy 2

Articles related to Optic Atrophy 2:

(show all 29)
# Title Authors PMID Year
1
A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. 57 61
16969871 2006
2
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. 57
9382106 1997
3
A family with apparently sex-linked optic atrophy. 57
123591 1975
4
A family with sex linked optic atrophy : Ophthalmological and neurological aspects. 57
27169914 1974
5
Development of a RAPD marker-based classification criterion for quality semen production in Holstein crossbred bulls. 61
33559234 2021
6
Exploring of greater yam (Dioscorea alata L.) genotypes through biochemical screening for better cultivation in south Gujarat zone of India. 61
31564785 2019
7
Genetic variations among three major ethnic groups in Nigeria using RAPD. 61
30046618 2018
8
Identification of a novel phylogenetic lineage of Alternaria alternata causing citrus brown spot in China. 61
25937061 2015
9
Comparison of Alternaria spp. collected in Italy from apple with A. mali and other AM-toxin producing strains. 61
22934716 2012
10
Dominant optic atrophy. 61
22776096 2012
11
Outcomes of vitreoretinal surgery in patients with closed-globe injury. 61
20872356 2011
12
Test-retest variability of intraocular pressure and ocular pulse amplitude for dynamic contour tonometry: a multicentre study. 61
19833616 2010
13
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. 61
19344448 2009
14
Effect of initial estimates and constraints selection in multivariate curve resolution--alternating least squares. Application to low-resolution NMR data. 61
19393364 2009
15
Genotypic and phenotypic analysis of Streptococcus mutans from different oral cavity sites of caries-free and caries-active children. 61
17803628 2007
16
High annealing temperature-random amplified polymorphic DNA (HAT-RAPD) analysis of three paramphistome flukes from Thailand. 61
16889772 2007
17
Management of retinal detachment due to closed globe injury by pars plana vitrectomy with and without scleral buckling. 61
16395136 2006
18
[Genetic polymorphism of Malassezia spp. yeast isolates from individuals with and without dermatological lesions]. 61
16433174 2005
19
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. 61
16158427 2005
20
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. 61
15852396 2005
21
Citrus Black Rot is Caused by Phylogenetically Distinct Lineages of Alternaria alternata. 61
18943316 2005
22
Molecular genetic basis of primary inherited optic neuropathies. 61
15534598 2004
23
Molecular systematics of citrus-associated Alternaria species. 61
21148834 2004
24
Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. 61
11910556 2002
25
Eye lesions and onchocerciasis in a rural farm settlement in Delta state, Nigeria. 61
12118455 2002
26
XLMR genes: update 1998. 61
10208155 1999
27
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. 61
7825232 1994
28
The optic disc in Leber congenital amaurosis. 61
1512668 1992
29
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 9.23 TMEM126A TIMM17B OPA3 NDUFB11 MTRFR MECR

Biological processes related to Optic Atrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 8.62 TMEM126A NDUFB11

Sources for Optic Atrophy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....