MCID: OPT023
MIFTS: 22

Optic Atrophy 2

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

Aliases & Classifications for Optic Atrophy 2

MalaCards integrated aliases for Optic Atrophy 2:

Name: Optic Atrophy 2 57 53 73
Optic Atrophy, X-Linked 57 53 13
Opa2 57 53 59
Optic Atrophy, Non-Leber Type, with Early Onset 57 53
Non-Leber Type Optic Atrophy with Early-Onset 59
Early-Onset X-Linked Optic Atrophy 59
Optic Atrophy 2, X-Linked 57
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:

OMIM 57 311050
Orphanet 59 ORPHA98890
ICD10 via Orphanet 34 H47.2
UMLS via Orphanet 74 C1839576
MedGen 42 C1839576
UMLS 73 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: 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 optic atrophy and intellectual disability

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 11.3
2 arts syndrome 11.2

Symptoms & Phenotypes for Optic Atrophy 2

Symptoms via clinical synopsis from OMIM:

57
Eyes:
early onset optic atrophy

Neuro:
mental retardation
hyperactive knee jerks
absent ankle jerks
extensor plantar reflexes
dysarthria
more

Clinical features from OMIM:

311050

Human phenotypes related to Optic Atrophy 2:

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

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

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 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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