OPA12
MCID: OPT080
MIFTS: 24

Optic Atrophy 12 (OPA12)

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

Aliases & Classifications for Optic Atrophy 12

MalaCards integrated aliases for Optic Atrophy 12:

Name: Optic Atrophy 12 57 12 73 6
Opa12 57 73
Optic Atrophy Type 12 29

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset usually in first decade
later onset (in some patients)
variable additional features


HPO:

31
optic atrophy 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080840
OMIM® 57 618977
OMIM Phenotypic Series 57 PS165500
MeSH 44 D015418
MedGen 41 CN283325

Summaries for Optic Atrophy 12

OMIM® : 57 Optic atrophy-12 (OPA12) is an autosomal dominant neurologic disorder characterized by slowly progressive visual impairment with onset usually in the first decade, although later onset has been reported. Affected individuals have impaired color vision, photophobia, pale optic discs, optic nerve atrophy, and decreased thickness of the retinal nerve fiber layer. Some patients may exhibit additional neurologic features, including impaired intellectual development, dystonia, movement disorders, or ataxia (summary by Caporali et al., 2020). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). (618977) (Updated 05-Mar-2021)

MalaCards based summary : Optic Atrophy 12, is also known as opa12. An important gene associated with Optic Atrophy 12 is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2). Affiliated tissues include retina and brain, and related phenotypes are optic atrophy and photophobia

Disease Ontology : 12 An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has material basis in heterozygous mutation in the AFG3L2 gene on chromosome 18p11.

UniProtKB/Swiss-Prot : 73 Optic atrophy 12: An autosomal dominant disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA12 patients manifest slowly progressive visual impairment with onset usually in the first decade. Some patients may exhibit additional features including impaired intellectual development, dystonia, movement disorders, or ataxia.

Related Diseases for Optic Atrophy 12

Symptoms & Phenotypes for Optic Atrophy 12

Human phenotypes related to Optic Atrophy 12:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 very rare (1%) HP:0000648
2 photophobia 31 very rare (1%) HP:0000613
3 reduced visual acuity 31 very rare (1%) HP:0007663
4 optic disc pallor 31 very rare (1%) HP:0000543
5 dyschromatopsia 31 very rare (1%) HP:0007641
6 abnormal ishihara plate test 31 HP:0030586

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
photophobia
decreased visual acuity
optic nerve atrophy
impaired color vision
decreased thickness of retinal nerve fiber layer

Head And Neck Ears:
sensorineural deafness (1 patient)

Neurologic Central Nervous System:
dystonia (in some patients)
intellectual disability (in some patients)
spasticity (1 patient)
mild ataxia (in some patients)
motor disturbances (in some patients)
more
Head And Neck Neck:
cervical dystonia (in some patients)

Clinical features from OMIM®:

618977 (Updated 05-Mar-2021)

Drugs & Therapeutics for Optic Atrophy 12

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 12

Genetic Tests for Optic Atrophy 12

Genetic tests related to Optic Atrophy 12:

# Genetic test Affiliating Genes
1 Optic Atrophy Type 12 29

Anatomical Context for Optic Atrophy 12

MalaCards organs/tissues related to Optic Atrophy 12:

40
Retina, Brain

Publications for Optic Atrophy 12

Articles related to Optic Atrophy 12:

(show all 14)
# Title Authors PMID Year
1
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 57 6
32219868 2020
2
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy. 57 6
32600459 2020
3
Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene. 57 6
29181157 2017
4
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability. 6 57
26539208 2015
5
Development of a RAPD marker-based classification criterion for quality semen production in Holstein crossbred bulls. 61
33559234 2021
6
Longitudinal Development of Peripapillary Hyper-Reflective Ovoid Masslike Structures Suggests a Novel Pathological Pathway in Multiple Sclerosis. 61
32426856 2020
7
Referral for Ophthalmology Evaluation and Visual Sequelae in Children With Primary Brain Tumors. 61
31373649 2019
8
[Hereditary optic neuropathies in pediatric ophthalmology]. 61
29779933 2018
9
Molecular diversity analysis of Rhizoctonia solani isolates infecting various pulse crops in different agro-ecological regions of India. 61
22653790 2012
10
[Genetic evidence of hybridization between paletailed Spermophilus pallidicauda Satunin, 1903 and alashanic S. alaschanicus Buchner, 1888 ground squirrels in Mongolia]. 61
16756072 2006
11
[Long-term outcome of gliomas of the visual pathway in type 1 neurofibromatosis]. 61
10637799 1999
12
Childhood blindness in the West Bank and Gaza Strip: prevalence, aetiology and hereditary factors. 61
8253243 1993
13
Community-based study of neurological disorders in rural central Ethiopia. 61
2087251 1990
14
Causes of blindness in children. 1046 cases registered with the Canadian National Institute for the Blind 1970-1973. 61
1192267 1975

Variations for Optic Atrophy 12

ClinVar genetic disease variations for Optic Atrophy 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AFG3L2 NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys) SNV Pathogenic 565275 rs1020764190 18:12351329-12351329 18:12351330-12351330
2 AFG3L2 NM_006796.3(AFG3L2):c.1010G>A (p.Gly337Glu) SNV Pathogenic 976488 18:12358685-12358685 18:12358686-12358686
3 AFG3L2 NM_006796.3(AFG3L2):c.1385C>T SNV Pathogenic 546814 rs912546325 18:12351346-12351346 18:12351347-12351347
4 AFG3L2 NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly) SNV Pathogenic 973105 18:12353102-12353102 18:12353103-12353103
5 AFG3L2 NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu) SNV Pathogenic 973106 18:12351095-12351095 18:12351096-12351096
6 AFG3L2 NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro) SNV Uncertain significance 931039 18:12337485-12337485 18:12337486-12337486

Expression for Optic Atrophy 12

Search GEO for disease gene expression data for Optic Atrophy 12.

Pathways for Optic Atrophy 12

GO Terms for Optic Atrophy 12

Sources for Optic Atrophy 12

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
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