OPA11
MCID: OPT064
MIFTS: 34

Optic Atrophy 11 (OPA11)

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

Aliases & Classifications for Optic Atrophy 11

MalaCards integrated aliases for Optic Atrophy 11:

Name: Optic Atrophy 11 57 12 72 29 6 15
Opa11 57 12 72
Atrophy, Optic, Type 11 39
Optic Atrophy Type 11 29

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one consanguineous saudi family has been reported (last curated january 2017)


HPO:

31
optic atrophy 11:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Optic Atrophy 11

UniProtKB/Swiss-Prot : 72 Optic atrophy 11: An autosomal recessive 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. OPA11 patients also manifest delayed psychomotor development, intellectual disability, ataxia, and leukoencephalopathy on brain imaging.

MalaCards based summary : Optic Atrophy 11, also known as opa11, is related to alzheimer disease 7 and optic atrophy 5. An important gene associated with Optic Atrophy 11 is YME1L1 (YME1 Like 1 ATPase), and among its related pathways/superpathways is Mitophagy. Affiliated tissues include retina and brain, and related phenotypes are generalized hypotonia and macrocephaly

Disease Ontology : 12 An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has material basis in homozygous or compound heterozygous mutation in YME1L1 on chromosome 10p12.1.

OMIM® : 57 OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). (617302) (Updated 05-Apr-2021)

Related Diseases for Optic Atrophy 11

Graphical network of the top 20 diseases related to Optic Atrophy 11:



Diseases related to Optic Atrophy 11

Symptoms & Phenotypes for Optic Atrophy 11

Human phenotypes related to Optic Atrophy 11:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 generalized hypotonia 31 occasional (7.5%) HP:0001290
2 macrocephaly 31 HP:0000256
3 intellectual disability 31 HP:0001249
4 hearing impairment 31 HP:0000365
5 global developmental delay 31 HP:0001263
6 macrotia 31 HP:0000400
7 microcephaly 31 HP:0000252
8 optic atrophy 31 HP:0000648
9 short stature 31 HP:0004322
10 strabismus 31 HP:0000486
11 absent speech 31 HP:0001344
12 myopia 31 HP:0000545
13 amblyopia 31 HP:0000646
14 dysmetria 31 HP:0001310
15 midface retrusion 31 HP:0011800
16 cerebellar hypoplasia 31 HP:0001321
17 leukoencephalopathy 31 HP:0002352
18 hyperactivity 31 HP:0000752
19 brain atrophy 31 HP:0012444
20 hypermetropia 31 HP:0000540
21 hyperkinetic movements 31 HP:0002487
22 facial diplegia 31 HP:0001349

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly
microcephaly

Head And Neck Ears:
macrotia
hearing impairment, sensorineural

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Laboratory Abnormalities:
increased serum and csf lactate

Neurologic Central Nervous System:
intellectual disability
ataxia
global developmental delay
dysmetria
cerebellar hypoplasia
more
Head And Neck Eyes:
visual impairment
optic atrophy
strabismus
myopia
amblyopia
more
Head And Neck Face:
midface retrusion
facial diplegia

Muscle Soft Tissue:
hypotonia (in some patients)
paracrystalline inclusions
neurogenic atrophy
fiber type grouping seen on muscle biopsy
mitochondria with altered cristae

Clinical features from OMIM®:

617302 (Updated 05-Apr-2021)

Drugs & Therapeutics for Optic Atrophy 11

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 11

Genetic Tests for Optic Atrophy 11

Genetic tests related to Optic Atrophy 11:

# Genetic test Affiliating Genes
1 Optic Atrophy Type 11 29
2 Optic Atrophy 11 29 YME1L1

Anatomical Context for Optic Atrophy 11

MalaCards organs/tissues related to Optic Atrophy 11:

40
Retina, Brain

Publications for Optic Atrophy 11

Articles related to Optic Atrophy 11:

# Title Authors PMID Year
1
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. 57 6
27495975 2016
2
Bilateral Acute Retinal Necrosis: Clinical Features and Outcomes in a Multicenter Study. 61
30059636 2019
3
Molecular characterization of eight Indian Snakehead species (Pisces: Perciformes Channidae) using RAPD markers. 61
21814812 2012
4
Relative contributions of recombination and mutation to the diversification of the opa gene repertoire of Neisseria gonorrhoeae. 61
19114493 2009
5
Detection of Campylobacter jejuni strains in the water lines of a commercial broiler house and their relationship to the strains that colonized the chickens. 61
12713164 2003
6
Characterization of Botrytis cinerea from Table Grapes in Chile Using RAPD-PCR. 61
30841128 1999
7
Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. 61
7490992 1995

Variations for Optic Atrophy 11

ClinVar genetic disease variations for Optic Atrophy 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 YME1L1 NM_014263.4(YME1L1):c.445C>T (p.Arg149Trp) SNV Pathogenic 374984 rs1057519312 GRCh37: 10:27425300-27425300
GRCh38: 10:27136371-27136371
2 YME1L1 NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg) SNV Uncertain significance 1031258 GRCh37: 10:27400997-27400997
GRCh38: 10:27112068-27112068

UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy 11:

72
# Symbol AA change Variation ID SNP ID
1 YME1L1 p.Arg206Trp VAR_076869 rs105751931

Expression for Optic Atrophy 11

Search GEO for disease gene expression data for Optic Atrophy 11.

Pathways for Optic Atrophy 11

Pathways related to Optic Atrophy 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.29 TOMM20 MFN2

GO Terms for Optic Atrophy 11

Cellular components related to Optic Atrophy 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 YME1L1 TOMM20 PTPMT1 MICOS13 MICOS10 MFN2
2 mitochondrial inner membrane GO:0005743 9.65 YME1L1 PTPMT1 MICOS13 MICOS10 IMMT
3 mitochondrial sorting and assembly machinery complex GO:0001401 9.13 MICOS13 MICOS10 IMMT
4 MICOS complex GO:0061617 8.8 MICOS13 MICOS10 IMMT

Biological processes related to Optic Atrophy 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 macroautophagy GO:0016236 9.26 TOMM20 MFN2
2 cristae formation GO:0042407 9.16 MICOS13 IMMT
3 protein targeting to mitochondrion GO:0006626 8.96 TOMM20 MFN2
4 inner mitochondrial membrane organization GO:0007007 8.8 MICOS13 MICOS10 IMMT

Sources for Optic Atrophy 11

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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