OPA2
MCID: OPT023
MIFTS: 22

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 58 54 74
Optic Atrophy, X-Linked 58 54 13
Opa2 58 54 60
Optic Atrophy, Non-Leber Type, with Early Onset 58 54
Non-Leber Type Optic Atrophy with Early-Onset 60
Early-Onset X-Linked Optic Atrophy 60
Optic Atrophy 2, X-Linked 58
Atrophy, Optic, Type 2 41
Optic Atrophy Type 2 60

Characteristics:

Orphanet epidemiological data:

60
early-onset x-linked optic atrophy
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
x-linked


HPO:

33
optic atrophy 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 311050
ICD10 via Orphanet 35 H47.2
UMLS via Orphanet 75 C1839576
Orphanet 60 ORPHA98890
MedGen 43 C1839576
UMLS 74 C1839576

Summaries for Optic Atrophy 2

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98890Disease definitionEarly-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 optic atrophy, x-linked, 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 related phenotypes are intellectual disability and dysarthria

Description from OMIM: 311050

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 Autosomal Dominant Optic Atrophy Plus Syndrome

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

# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 11.4
2 arts syndrome 11.4
3 perrault syndrome 1 11.1

Symptoms & Phenotypes for Optic Atrophy 2

Human phenotypes related to Optic Atrophy 2:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 dysarthria 33 HP:0001260
3 tremor 33 HP:0001337
4 optic atrophy 33 HP:0000648
5 babinski sign 33 HP:0003487
6 dysdiadochokinesis 33 HP:0002075
7 absent achilles reflex 33 HP:0003438
8 hyperactive patellar reflex 33 HP:0007083

Symptoms via clinical synopsis from OMIM:

58
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:

42
Eye

Publications for Optic Atrophy 2

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
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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