OPA2
MCID: OPT023
MIFTS: 25

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 57 53 72
Opa2 57 53 59
Optic Atrophy, Non-Leber Type, with Early Onset 57 53
Optic Atrophy 2, X-Linked 57 13
Optic Atrophy, X-Linked 57 53
Non-Leber Type Optic Atrophy with Early-Onset 59
Early-Onset X-Linked Optic Atrophy 59
Atrophy, Optic, Type 2 40
Optic Atrophy Type 2 59

Characteristics:

Orphanet epidemiological data:

59
early-onset x-linked optic atrophy
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
x-linked


HPO:

32
optic atrophy 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

ICD10 via Orphanet 34 H47.2
UMLS via Orphanet 73 C1839576
Orphanet 59 ORPHA98890
MedGen 42 C1839576
UMLS 72 C1839576

Summaries for Optic Atrophy 2

NIH Rare Diseases : 53 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 3-methylglutaconic aciduria, type iii and arts syndrome. An important gene associated with Optic Atrophy 2 is OPA2 (Optic Atrophy 2 (Obscure)). Affiliated tissues include eye and testes, and related phenotypes are intellectual disability and dysarthria

More information from OMIM: 311050 PS165500

Related Diseases for Optic Atrophy 2

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 dysarthria 32 HP:0001260
3 tremor 32 HP:0001337
4 optic atrophy 32 HP:0000648
5 babinski sign 32 HP:0003487
6 dysdiadochokinesis 32 HP:0002075
7 absent achilles reflex 32 HP:0003438
8 hyperactive patellar reflex 32 HP:0007083

Symptoms via clinical synopsis from OMIM:

57
Neuro:
dysarthria
tremor
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:

41
Eye, Testes

Publications for Optic Atrophy 2

Articles related to Optic Atrophy 2:

(show all 27)
# Title Authors PMID Year
1
A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. 38 8
16969871 2006
2
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. 8
9382106 1997
3
A family with apparently sex-linked optic atrophy. 8
123591 1975
4
A family with sex linked optic atrophy : Ophthalmological and neurological aspects. 8
27169914 1974
5
Genetic variations among three major ethnic groups in Nigeria using RAPD. 38
30046618 2018
6
Identification of a novel phylogenetic lineage of Alternaria alternata causing citrus brown spot in China. 38
25937061 2015
7
Comparison of Alternaria spp. collected in Italy from apple with A. mali and other AM-toxin producing strains. 38
22934716 2012
8
Dominant optic atrophy. 38
22776096 2012
9
Outcomes of vitreoretinal surgery in patients with closed-globe injury. 38
20872356 2011
10
Test-retest variability of intraocular pressure and ocular pulse amplitude for dynamic contour tonometry: a multicentre study. 38
19833616 2010
11
Effect of initial estimates and constraints selection in multivariate curve resolution--alternating least squares. Application to low-resolution NMR data. 38
19393364 2009
12
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. 38
19344448 2009
13
Genotypic and phenotypic analysis of Streptococcus mutans from different oral cavity sites of caries-free and caries-active children. 38
17803628 2007
14
High annealing temperature-random amplified polymorphic DNA (HAT-RAPD) analysis of three paramphistome flukes from Thailand. 38
16889772 2007
15
Management of retinal detachment due to closed globe injury by pars plana vitrectomy with and without scleral buckling. 38
16395136 2006
16
[Genetic polymorphism of Malassezia spp. yeast isolates from individuals with and without dermatological lesions]. 38
16433174 2005
17
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. 38
16158427 2005
18
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. 38
15852396 2005
19
Citrus Black Rot is Caused by Phylogenetically Distinct Lineages of Alternaria alternata. 38
18943316 2005
20
Molecular genetic basis of primary inherited optic neuropathies. 38
15534598 2004
21
Molecular systematics of citrus-associated Alternaria species. 38
21148834 2004
22
Eye lesions and onchocerciasis in a rural farm settlement in Delta state, Nigeria. 38
12118455 2002
23
Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. 38
11910556 2002
24
XLMR genes: update 1998. 38
10208155 1999
25
Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases. 38
7825232 1994
26
The optic disc in Leber congenital amaurosis. 38
1512668 1992
27
A family with Charcot-Marie-Tooth disease and Leber's optic atrophy. 38
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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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