MCID: ATS069
MIFTS: 27

Autosomal Dominant Optic Atrophy Plus Syndrome

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

Aliases & Classifications for Autosomal Dominant Optic Atrophy Plus Syndrome

MalaCards integrated aliases for Autosomal Dominant Optic Atrophy Plus Syndrome:

Name: Autosomal Dominant Optic Atrophy Plus Syndrome 54 30 6
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 54 74
Dominant Optic Atrophy, Deafness, Ptosis, Ophthalmoplegia, Dystaxia, and Myopathy 54
Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome 54
Optic Atrophy - Deafness- Polyneuropathy - Myopathy 54
Dominant Optic Atrophy Plus Syndrome 54
Treft-Sanborn-Carey Syndrome 54
Treft Sanborn Carey Syndrome 74

Classifications:



Summaries for Autosomal Dominant Optic Atrophy Plus Syndrome

NIH Rare Diseases : 54 Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a rare syndrome that causes vision loss, hearing loss, and symptoms affecting the muscles. The syndrome is associated with degeneration of the optic nerve (optic atrophy). The optic nerve sends signals about what the eyes are seeing to the brain. When there is optic nerve damage, it causes vision loss. Other symptoms of ADOA plus include sensorineural hearing loss and symptoms affecting the muscles such as muscle pain and weakness. ADOA plus is caused by changes (mutations) in the OPA1 gene. The syndrome is inherited in an autosomal dominant manner. A diagnosis of ADOA plus is suspected when an eye exam finds degeneration of the optic nerve (optic atrophy). The diagnosis can be confirmed with a muscle biopsy and genetic testing of the OPA1 gene. Treatment options include visual and hearing aids. Certain medications have been found to help improve vision loss in some people.

MalaCards based summary : Autosomal Dominant Optic Atrophy Plus Syndrome, also known as optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy, is related to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy and wolfram-like syndrome, autosomal dominant, and has symptoms including ataxia and ophthalmoplegia. An important gene associated with Autosomal Dominant Optic Atrophy Plus Syndrome is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase). Affiliated tissues include eye, brain and testes, and related phenotypes are sensorineural hearing impairment and optic atrophy

Related Diseases for Autosomal Dominant Optic Atrophy Plus Syndrome

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 Autosomal Dominant Optic Atrophy Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 12.9
2 wolfram-like syndrome, autosomal dominant 11.6
3 optic atrophy 1 11.3
4 3-methylglutaconic aciduria, type iii 10.5
5 ptosis 10.5
6 myopathy 10.5
7 mitochondrial dna depletion syndrome 14 9.5 LOC102724808 OPA1

Graphical network of the top 20 diseases related to Autosomal Dominant Optic Atrophy Plus Syndrome:



Diseases related to Autosomal Dominant Optic Atrophy Plus Syndrome

Symptoms & Phenotypes for Autosomal Dominant Optic Atrophy Plus Syndrome

Human phenotypes related to Autosomal Dominant Optic Atrophy Plus Syndrome:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 hallmark (90%) HP:0000407
2 optic atrophy 33 hallmark (90%) HP:0000648
3 impaired pain sensation 33 hallmark (90%) HP:0007328
4 visual impairment 33 frequent (33%) HP:0000505
5 reduced tendon reflexes 33 frequent (33%) HP:0001315
6 color vision defect 33 frequent (33%) HP:0000551
7 abnormality of visual evoked potentials 33 occasional (7.5%) HP:0000649
8 strabismus 33 occasional (7.5%) HP:0000486
9 decreased nerve conduction velocity 33 occasional (7.5%) HP:0000762

UMLS symptoms related to Autosomal Dominant Optic Atrophy Plus Syndrome:


ataxia, ophthalmoplegia

Drugs & Therapeutics for Autosomal Dominant Optic Atrophy Plus Syndrome

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Optic Atrophy Plus Syndrome

Genetic Tests for Autosomal Dominant Optic Atrophy Plus Syndrome

Genetic tests related to Autosomal Dominant Optic Atrophy Plus Syndrome:

# Genetic test Affiliating Genes
1 Autosomal Dominant Optic Atrophy Plus Syndrome 30 OPA1

Anatomical Context for Autosomal Dominant Optic Atrophy Plus Syndrome

MalaCards organs/tissues related to Autosomal Dominant Optic Atrophy Plus Syndrome:

42
Eye, Brain, Testes

Publications for Autosomal Dominant Optic Atrophy Plus Syndrome

Articles related to Autosomal Dominant Optic Atrophy Plus Syndrome:

(show all 14)
# Title Authors Year
1
Heterozygous OPA1 mutations in Behr syndrome. ( 21112924 )
2011
2
Multi-system neurological disease is common in patients with OPA1 mutations. ( 20157015 )
2010
3
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. ( 18065439 )
2008
4
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. ( 18158317 )
2008
5
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. ( 18195150 )
2008
6
OPA1 in multiple mitochondrial DNA deletion disorders. ( 19029523 )
2008
7
A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family. ( 17188070 )
2007
8
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. ( 16158427 )
2005
9
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. ( 16240368 )
2005
10
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. ( 15531309 )
2004
11
A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. ( 12566046 )
2003
12
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. ( 14644237 )
2003
13
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). ( 4058877 )
1985
14
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. ( 6493699 )
1984

Variations for Autosomal Dominant Optic Atrophy Plus Syndrome

ClinVar genetic disease variations for Autosomal Dominant Optic Atrophy Plus Syndrome:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 OPA1 NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys) single nucleotide variant Pathogenic rs121908376 GRCh37 Chromosome 3, 193365898: 193365898
2 OPA1 NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys) single nucleotide variant Pathogenic rs121908376 GRCh38 Chromosome 3, 193648109: 193648109
3 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh37 Chromosome 3, 193361785: 193361785
4 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh38 Chromosome 3, 193643996: 193643996
5 OPA1 NM_015560.2(OPA1): c.2848_2849delGA (p.Asp950Cysfs) deletion Pathogenic rs879255513 GRCh38 Chromosome 3, 193692092: 193692093
6 OPA1 NM_015560.2(OPA1): c.2848_2849delGA (p.Asp950Cysfs) deletion Pathogenic rs879255513 GRCh37 Chromosome 3, 193409881: 193409882
7 OPA1 NM_015560.2(OPA1): c.1294A> G (p.Ile432Val) single nucleotide variant Pathogenic rs387906899 GRCh37 Chromosome 3, 193361398: 193361398
8 OPA1 NM_015560.2(OPA1): c.1294A> G (p.Ile432Val) single nucleotide variant Pathogenic rs387906899 GRCh38 Chromosome 3, 193643609: 193643609
9 OPA1 NM_015560.2(OPA1): c.1635C> G (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh37 Chromosome 3, 193364899: 193364899
10 OPA1 NM_015560.2(OPA1): c.1635C> G (p.Ser545Arg) single nucleotide variant Pathogenic rs398124298 GRCh38 Chromosome 3, 193647110: 193647110
11 OPA1 NM_015560.2(OPA1): c.1316G> T (p.Gly439Val) single nucleotide variant Pathogenic rs387906900 GRCh37 Chromosome 3, 193361767: 193361767
12 OPA1 NM_015560.2(OPA1): c.1316G> T (p.Gly439Val) single nucleotide variant Pathogenic rs387906900 GRCh38 Chromosome 3, 193643978: 193643978
13 OPA1 NM_015560.2(OPA1): c.2729T> A (p.Val910Asp) single nucleotide variant Pathogenic rs387906901 GRCh37 Chromosome 3, 193384980: 193384980
14 OPA1 NM_015560.2(OPA1): c.2729T> A (p.Val910Asp) single nucleotide variant Pathogenic rs387906901 GRCh38 Chromosome 3, 193667191: 193667191
15 OPA1 NM_015560.2(OPA1): c.1346delC (p.Thr449Lysfs) deletion Likely pathogenic rs794729196 GRCh37 Chromosome 3, 193361797: 193361797
16 OPA1 NM_015560.2(OPA1): c.1346delC (p.Thr449Lysfs) deletion Likely pathogenic rs794729196 GRCh38 Chromosome 3, 193644008: 193644008
17 OPA1 NM_130837.2(OPA1): c.113_130delGAAGCATTTATCATTCAC (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh38 Chromosome 3, 193614803: 193614820
18 OPA1 NM_130837.2(OPA1): c.113_130delGAAGCATTTATCATTCAC (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh37 Chromosome 3, 193332592: 193332609
19 OPA1 NM_130837.2(OPA1): c.1817G> A (p.Cys606Tyr) single nucleotide variant Pathogenic rs879255592 GRCh37 Chromosome 3, 193364916: 193364916
20 OPA1 NM_130837.2(OPA1): c.1817G> A (p.Cys606Tyr) single nucleotide variant Pathogenic rs879255592 GRCh38 Chromosome 3, 193647127: 193647127
21 OPA1 NM_015560.2(OPA1): c.985-2A> G single nucleotide variant Pathogenic rs886041317 GRCh37 Chromosome 3, 193360552: 193360552
22 OPA1 NM_015560.2(OPA1): c.985-2A> G single nucleotide variant Pathogenic rs886041317 GRCh38 Chromosome 3, 193642763: 193642763
23 OPA1 NM_015560.2(OPA1): c.599C> T (p.Ser200Phe) single nucleotide variant Uncertain significance rs200243596 GRCh38 Chromosome 3, 193618911: 193618911
24 OPA1 NM_015560.2(OPA1): c.599C> T (p.Ser200Phe) single nucleotide variant Uncertain significance rs200243596 GRCh37 Chromosome 3, 193336700: 193336700
25 OPA1 NM_015560.2(OPA1): c.344C> T (p.Ala115Val) single nucleotide variant Uncertain significance rs200983556 GRCh38 Chromosome 3, 193615034: 193615034
26 OPA1 NM_015560.2(OPA1): c.344C> T (p.Ala115Val) single nucleotide variant Uncertain significance rs200983556 GRCh37 Chromosome 3, 193332823: 193332823

Expression for Autosomal Dominant Optic Atrophy Plus Syndrome

Search GEO for disease gene expression data for Autosomal Dominant Optic Atrophy Plus Syndrome.

Pathways for Autosomal Dominant Optic Atrophy Plus Syndrome

GO Terms for Autosomal Dominant Optic Atrophy Plus Syndrome

Sources for Autosomal Dominant Optic Atrophy Plus Syndrome

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