DOA+
MCID: OPT066
MIFTS: 28

Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy (DOA+)

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

Aliases & Classifications for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

MalaCards integrated aliases for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

Name: Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 57 13 73
Dominant Optic Atrophy Plus Syndrome 57 75
Doa+ 57 75
Optic Atrophy with or Without Deafness Ophthalmoplegia Myopathy Ataxia and Neuropathy 75
Dominant Optic Atrophy Plus Syndrome; Doa+ 57
3-Methylglutaconic Aciduria Type 3 73
Optic Atrophy, Autosomal Dominant 73
Autosomal Dominant Optic Atrophy 53
Optic Atrophy Plus Syndrome 57
Optic Atrophy, Dominant 6
Dominant Optic Atrophy 53
Adoa 53
Doa 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
progressive disorder
variable age of onset (childhood to adult)


HPO:

32
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy:
Onset and clinical course phenotypic variability progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

NIH Rare Diseases : 53 Dominant optic atrophy (DOA) is an inheritedoptic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with DOA have non-ocular features, such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). These cases may be referred to as 'DOA plus.' DOA is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes, some of which have not been identified. There is currently no way to prevent or cure DOA, but affected people may benefit from low vision aids.

MalaCards based summary : Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy, also known as dominant optic atrophy plus syndrome, is related to autosomal dominant optic atrophy plus syndrome and wolfram-like syndrome, autosomal dominant, and has symptoms including ataxia, muscle spasticity and abnormality of extrapyramidal motor function. An important gene associated with Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase). Related phenotypes are progressive sensorineural hearing impairment and strabismus

OMIM : 57 Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). (125250)

UniProtKB/Swiss-Prot : 75 Dominant optic atrophy plus syndrome: A neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes.

Related Diseases for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Diseases related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant optic atrophy plus syndrome 11.7
2 wolfram-like syndrome, autosomal dominant 11.4
3 optic atrophy 1 10.9
4 alzheimer disease 9.9
5 pulmonary emphysema 9.9
6 rheumatoid arthritis 9.9
7 3-methylglutaconic aciduria, type iii 9.9
8 arthritis 9.9
9 optic nerve disease 9.9
10 hemorrhagic disease 9.9
11 neuropathy 9.9

Graphical network of the top 20 diseases related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:



Diseases related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy

Symptoms & Phenotypes for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
optic atrophy
strabismus
central scotoma
centrocecal scotoma
more
Muscle Soft Tissue:
myopathy, mild
increased fiber size variation
mitochondrial dna deletions (in some patients)
ragged red fibers

Neurologic Peripheral Nervous System:
axonal sensorineural polyneuropathy

Head And Neck Ears:
hearing loss, progressive sensorineural
absent or decreased auditory brainstem responses
auditory neuropathy

Neurologic Central Nervous System:
cerebellar ataxia (in some patients)
spasticity (in some patients)
gait difficulties (in some patients)


Clinical features from OMIM:

125250

Human phenotypes related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 progressive sensorineural hearing impairment 32 HP:0000408
2 strabismus 32 HP:0000486
3 visual impairment 32 HP:0000505
4 ptosis 32 HP:0000508
5 tritanomaly 32 HP:0000552
6 centrocecal scotoma 32 HP:0000576
7 ophthalmoplegia 32 HP:0000602
8 central scotoma 32 HP:0000603
9 red-green dyschromatopsia 32 HP:0000642
10 optic atrophy 32 HP:0000648
11 abnormal amplitude of pattern reversal visual evoked potentials 32 HP:0000650
12 horizontal nystagmus 32 HP:0000666
13 ataxia 32 occasional (7.5%) HP:0001251
14 spasticity 32 occasional (7.5%) HP:0001257
15 gait disturbance 32 occasional (7.5%) HP:0001288
16 myopathy 32 HP:0003198
17 increased variability in muscle fiber diameter 32 HP:0003557
18 abnormal auditory evoked potentials 32 HP:0006958
19 reduced visual acuity 32 HP:0007663
20 peripheral neuropathy 32 HP:0009830

UMLS symptoms related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:


ataxia, muscle spasticity, abnormality of extrapyramidal motor function, ophthalmoplegia

Drugs & Therapeutics for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Search Clinical Trials , NIH Clinical Center for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy

Genetic Tests for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Anatomical Context for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Publications for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Articles related to Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

# Title Authors Year
1
Ineffectiveness of oral coenzyme Q10 supplementation in 3-methylglutaconic aciduria, type 3. ( 9533558 )
1998
2
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. ( 9097959 )
1997
3
3-Methylglutaconic aciduria, type 3. ( 7573769 )
1995

Variations for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

75
# Symbol AA change Variation ID SNP ID
1 OPA1 p.Arg445His VAR_015741 rs80356529
2 OPA1 p.Ser545Arg VAR_026533 rs398124298
3 OPA1 p.Ala357Thr VAR_060836 rs190223702
4 OPA1 p.Cys551Tyr VAR_060851 rs879255592
5 OPA1 p.Tyr582Cys VAR_060853 rs121908376
6 OPA1 p.Gly439Val VAR_072127 rs387906900
7 OPA1 p.Thr449Pro VAR_072128
8 OPA1 p.Val910Asp VAR_072132 rs387906901

ClinVar genetic disease variations for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy:

6
(show top 50) (show all 412)
# 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_015560.2(OPA1): c.70A> G (p.Ile24Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201520438 GRCh38 Chromosome 3, 193614760: 193614760
18 OPA1 NM_015560.2(OPA1): c.70A> G (p.Ile24Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201520438 GRCh37 Chromosome 3, 193332549: 193332549
19 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh38 Chromosome 3, 193614803: 193614820
20 OPA1 NM_015560.2(OPA1): c.113_130del18 (p.Arg38_Ser43del) deletion Conflicting interpretations of pathogenicity rs863224140 GRCh37 Chromosome 3, 193332592: 193332609
21 OPA1 NM_015560.2(OPA1): c.530G> T (p.Ser177Ile) single nucleotide variant Uncertain significance rs150279202 GRCh37 Chromosome 3, 193335048: 193335048
22 OPA1 NM_015560.2(OPA1): c.530G> T (p.Ser177Ile) single nucleotide variant Uncertain significance rs150279202 GRCh38 Chromosome 3, 193617259: 193617259
23 OPA1 NM_015560.2(OPA1): c.1137T> G (p.Pro379=) single nucleotide variant Conflicting interpretations of pathogenicity rs139861334 GRCh38 Chromosome 3, 193643046: 193643046
24 OPA1 NM_015560.2(OPA1): c.1137T> G (p.Pro379=) single nucleotide variant Conflicting interpretations of pathogenicity rs139861334 GRCh37 Chromosome 3, 193360835: 193360835
25 OPA1 NM_015560.2(OPA1): c.2341C> T (p.Arg781Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs190235251 GRCh38 Chromosome 3, 193659547: 193659547
26 OPA1 NM_015560.2(OPA1): c.2341C> T (p.Arg781Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs190235251 GRCh37 Chromosome 3, 193377336: 193377336
27 OPA1 NM_015560.2(OPA1): c.2819-4A> G single nucleotide variant Benign/Likely benign rs184273607 GRCh38 Chromosome 3, 193692059: 193692059
28 OPA1 NM_015560.2(OPA1): c.2819-4A> G single nucleotide variant Benign/Likely benign rs184273607 GRCh37 Chromosome 3, 193409848: 193409848
29 OPA1 NM_130837.2(OPA1): c.1817G> A (p.Cys606Tyr) single nucleotide variant Pathogenic rs879255592 GRCh37 Chromosome 3, 193364916: 193364916
30 OPA1 NM_130837.2(OPA1): c.1817G> A (p.Cys606Tyr) single nucleotide variant Pathogenic rs879255592 GRCh38 Chromosome 3, 193647127: 193647127
31 OPA1 NM_130837.2(OPA1): c.2441-4dupC duplication Conflicting interpretations of pathogenicity rs886038711 GRCh37 Chromosome 3, 193377267: 193377267
32 OPA1 NM_130837.2(OPA1): c.2441-4dupC duplication Conflicting interpretations of pathogenicity rs886038711 GRCh38 Chromosome 3, 193659478: 193659478
33 OPA1 NM_015560.2(OPA1): c.985-2A> G single nucleotide variant Pathogenic rs886041317 GRCh37 Chromosome 3, 193360552: 193360552
34 OPA1 NM_015560.2(OPA1): c.985-2A> G single nucleotide variant Pathogenic rs886041317 GRCh38 Chromosome 3, 193642763: 193642763
35 OPA3 NM_025136.3(OPA3): c.412G> A (p.Ala138Thr) single nucleotide variant Benign/Likely benign rs201574732 GRCh37 Chromosome 19, 46056900: 46056900
36 OPA3 NM_025136.3(OPA3): c.412G> A (p.Ala138Thr) single nucleotide variant Benign/Likely benign rs201574732 GRCh38 Chromosome 19, 45553642: 45553642
37 OPA1 NM_015560.2(OPA1): c.-102G> A single nucleotide variant Uncertain significance rs886058255 GRCh38 Chromosome 3, 193593276: 193593276
38 OPA1 NM_015560.2(OPA1): c.-102G> A single nucleotide variant Uncertain significance rs886058255 GRCh37 Chromosome 3, 193311065: 193311065
39 OPA1 NM_015560.2(OPA1): c.-8C> T single nucleotide variant Uncertain significance rs371988066 GRCh38 Chromosome 3, 193593370: 193593370
40 OPA1 NM_015560.2(OPA1): c.-8C> T single nucleotide variant Uncertain significance rs371988066 GRCh37 Chromosome 3, 193311159: 193311159
41 OPA1 NM_015560.2(OPA1): c.544T> C (p.Phe182Leu) single nucleotide variant Uncertain significance rs769335936 GRCh38 Chromosome 3, 193617273: 193617273
42 OPA1 NM_015560.2(OPA1): c.544T> C (p.Phe182Leu) single nucleotide variant Uncertain significance rs769335936 GRCh37 Chromosome 3, 193335062: 193335062
43 OPA1 NM_015560.2(OPA1): c.*376A> G single nucleotide variant Likely benign rs142349183 GRCh38 Chromosome 3, 193694976: 193694976
44 OPA1 NM_015560.2(OPA1): c.*376A> G single nucleotide variant Likely benign rs142349183 GRCh37 Chromosome 3, 193412765: 193412765
45 OPA1 NM_015560.2(OPA1): c.*560T> C single nucleotide variant Benign rs7643844 GRCh38 Chromosome 3, 193695160: 193695160
46 OPA1 NM_015560.2(OPA1): c.*560T> C single nucleotide variant Benign rs7643844 GRCh37 Chromosome 3, 193412949: 193412949
47 OPA1 NM_015560.2(OPA1): c.*623G> A single nucleotide variant Likely benign rs146468889 GRCh38 Chromosome 3, 193695223: 193695223
48 OPA1 NM_015560.2(OPA1): c.*623G> A single nucleotide variant Likely benign rs146468889 GRCh37 Chromosome 3, 193413012: 193413012
49 OPA1 NM_015560.2(OPA1): c.*694C> A single nucleotide variant Likely benign rs190367068 GRCh38 Chromosome 3, 193695294: 193695294
50 OPA1 NM_015560.2(OPA1): c.*694C> A single nucleotide variant Likely benign rs190367068 GRCh37 Chromosome 3, 193413083: 193413083

Expression for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

Search GEO for disease gene expression data for Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy.

Pathways for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

GO Terms for Optic Atrophy with or Without Deafness, Ophthalmoplegia,...

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