MCID: OPT055
MIFTS: 40

Optic Atrophy Plus Syndrome malady

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

Aliases & Classifications for Optic Atrophy Plus Syndrome

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Aliases & Descriptions for Optic Atrophy Plus Syndrome:

Name: Optic Atrophy Plus Syndrome 49
Optic Atrophy 10 47 12 36 24 65
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 11 65
Optic Atrophy with or Without Deafness Ophthalmoplegia Myopathy Ataxia and Neuropathy 67
 
Dominant Optic Atrophy Plus Syndrome 67
3-Methylglutaconic Aciduria Type 3 65
Atrophy of Optic Disc 10
Doa+ 67

Characteristics:

HPO:

61
optic atrophy plus syndrome:
Onset and clinical course: phenotypic variability
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 125250
Disease Ontology10 DOID:5723
ICD9CM29 377.1, 377.10
NCIt42 C34863
UMLS65 C0029124, C0574084, C3276549

Summaries for Optic Atrophy Plus Syndrome

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OMIM:49 Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an... (125250) more...

MalaCards based summary: Optic Atrophy Plus Syndrome, also known as optic atrophy, is related to optic atrophy 3 with cataract and glaucomatous atrophy of optic disc, and has symptoms including peripheral neuropathy, reduced visual acuity and abnormal auditory evoked potentials. An important gene associated with Optic Atrophy Plus Syndrome is OPA1 (OPA1, Mitochondrial Dynamin Like GTPase). Affiliated tissues include eye and lung, and related mouse phenotypes are vision/eye and nervous system.

UniProtKB/Swiss-Prot:67 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 Plus Syndrome

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Diseases in the Primary Optic Atrophy family:

Optic Atrophy 1 optic atrophy plus syndrome
Optic Atrophy 6 Optic Atrophy 7
Optic Atrophy 4 Optic Atrophy 5
Optic Atrophy 8 Autosomal Dominant Optic Atrophy Plus Syndrome
Optic Atrophy 2 Optic Atrophy Type 9

Diseases related to Optic Atrophy Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1optic atrophy 3 with cataract32.9MFN2, OPA1, OPA3, PMPCA, WFS1
2glaucomatous atrophy of optic disc12.6
3autosomal dominant optic atrophy plus syndrome12.6
43-methylglutaconic aciduria, type iii11.9
53-m syndrome 310.5OPA3, PMPCA
6hereditary motor and sensory neuropathy via10.5C12orf65, MFN2
7glaucoma, normal tension10.5MFN2, OPA1
8leptin deficiency10.5C12orf65, OPA3
9mannosidosis, beta10.4CISD2, WFS1
10ledderhose disease10.4MT-ND4, MT-ND6
11nonsyndromic 46,xx testicular disorders of sex development10.4C19orf12, FA2H
12visual epilepsy10.4MT-ND4, MT-ND6
13bestiality10.4OPA1, SNCA, TMEM126A
14encephalopathy due to prosaposin deficiency10.3C12orf65, MT-ND4
15spinocerebellar ataxia 3510.3C19orf12, FA2H, SNCA
16ben ari shuper mimouni syndrome10.3C12orf65, C19orf12, OPA1, OPA3
17spastic paraplegia 110.3FA2H, MTPAP
18mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.3MT-ND4, MT-ND6
19chronic inflammation of lacrimal passage10.3CISD2, WFS1
20mitochondrial membrane protein-associated neurodegeneration10.3MT-ND4, MT-ND6, OPA1
21mitochondrial disorders10.2MT-ND4, MT-ND6
22lung cancer10.1
23thymus basaloid carcinoma10.0MT-ND4, MT-ND6, OPA1
24lipid-rich carcinoma9.7C12orf65, MFN1, MFN2, MT-ND4, MT-ND6, OPA1
25eczematous dermatitis of eyelid9.5FIS1, MFN1, MFN2, MT-ND4, MT-ND6, OPA1
26morbid obesity and spermatogenic failure7.7C12orf65, C19orf12, CISD2, DNM1L, EIF2B4, FA2H

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



Diseases related to optic atrophy plus syndrome

Symptoms for Optic Atrophy Plus Syndrome

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Symptoms by clinical synopsis from OMIM:

125250

Clinical features from OMIM:

125250

HPO human phenotypes related to Optic Atrophy Plus Syndrome:

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

Drugs & Therapeutics for Optic Atrophy Plus Syndrome

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Drugs for Optic Atrophy Plus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Epoetin alfaapprovedPhase 3626113427-24-0
Synonyms:
Epogen
 
Erythropoietin precursor
Procrit
2
Riluzoleapproved, investigationalPhase 3591744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole Hydrochloride
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
3
Modafinilapproved, investigationalPhase 319268693-11-84236
Synonyms:
Dea No. 1680
Modafinil
Modafinil [USAN:INN]
Modafinil [Usan:Inn]
Modafinilo
Modafinilo [Spanish]
 
Modafinilum
Modafinilum [Latin]
Moderateafinil
Modiodal
Provigil
Sparlon
modafinil
4HematinicsPhase 31121
5ArmodafinilPhase 3192
6Central Nervous System StimulantsPhase 31721
7Protective AgentsPhase 35651
8Wakefulness-Promoting AgentsPhase 3179
9AnticonvulsantsPhase 32249
10Excitatory Amino Acid AntagonistsPhase 31095
11Excitatory Amino AcidsPhase 31109
12Neuroprotective AgentsPhase 31376
13Neurotransmitter AgentsPhase 314795
14
Ironapproved10217439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
15
Exenatideapproved, investigational269141758-74-915991534
Synonyms:
141732-76-5
141758-74-9
286014-72-0
335149-21-8
AC 2993
AC 2993 LAR
AC 2993A
AC-2993
AC002993
AC2993
AC2993a
Bydureon
Byetta
 
C074031
CHEBI:490990
CHEMBL414357
Ex4 peptide
Exenatide
Exenatide Synthetic
Exenatide synthetic
Exendin 4
Exendin 4 (Heloderma suspectum)
Exendin-4
Extendin-4
LY2148568
Synthetic exendin-4
UNII-9P1872D4OL
16DihydroxyphenylalaninePhase 0123
17insulin4278
18Insulin, Globin Zinc4278
19Incretins1326
20
21Phenylethyl Alcohol8
22Hypoglycemic Agents4503
23Hormone Antagonists10002
24Glucagon-Like Peptide 1620
25Hormones11748
26Hormones, Hormone Substitutes, and Hormone Antagonists9988

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled TrialRecruitingNCT01962571Phase 3
2Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS)TerminatedNCT00211224Phase 3
3Modafinil to Treat Fatigue in Post-Polio SyndromeTerminatedNCT00067496Phase 3
4Transcorneal Electrical Stimulation Therapy for Retinal DiseaseCompletedNCT00804102
5Research of Biomarkers in Parkinson DiseaseCompletedNCT00465790Phase 0
6Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung AdenocarcinomaRecruitingNCT01249053
7Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
8Tracking Neurodegeneration in Early Wolfram SyndromeRecruitingNCT02455414
9PROgressive Supranuclear Palsy CorTico-Basal Syndrome Multiple System Atrophy Longitudinal Study UKRecruitingNCT02778607
10Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
11Retinal Abnormalities as Biomarker of Disease Progression and Early Diagnosis of Parkinson DiseaseRecruitingNCT02640339
12Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
13Evaluation of the Role of OCT in the Detection of HIV-associated Neurocognitive DisorderRecruitingNCT02431091
14MRI on Persons With Mutations in POMT2 Gene (LGMD2N)RecruitingNCT02759302
15Identifying Biomarkers of Parkinson's Disease Using Magnetic Resonance Imaging (MRI)RecruitingNCT01888185
16Magnetic Resonance Imaging in the Diagnosis of Parkinsonian SyndromesRecruitingNCT02445469
17Defining Phenotypes of Movement Disorders :Parkinson's Plus Disorders, PD,Essential Tremor, (ET),Cortical Basal Degeneration, (CBD),Multiple Systems Atrophy (MSA), MagnetoencephalographyActive, not recruitingNCT02132052
18Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian SyndromesActive, not recruitingNCT00368199Phase 0
19Advanced Characterization of Autosomal Dominant Optic AtrophyEnrolling by invitationNCT01522638
20GLP Analogs for Diabetes in Wolfram Syndrome PatientsNot yet recruitingNCT01302327
21Unique Brainstem Biomarkers of Early Parkinson's DiseaseNot yet recruitingNCT02761707
22Head Circumference Growth in Children Who Develop Multiple Sclerosis Later in LifeWithdrawnNCT01377805

Search NIH Clinical Center for Optic Atrophy Plus Syndrome


Cochrane evidence based reviews: optic atrophy

Genetic Tests for Optic Atrophy Plus Syndrome

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Anatomical Context for Optic Atrophy Plus Syndrome

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MalaCards organs/tissues related to Optic Atrophy Plus Syndrome:

33
Eye, Lung

Animal Models for Optic Atrophy Plus Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Optic Atrophy Plus Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.8CISD2, DNM1L, FA2H, MT-ND6, OPA1, OPA3
2MP:00036317.7CISD2, DNM1L, FA2H, MFN1, MFN2, MT-ND6
3MP:00053867.5CISD2, DNM1L, FA2H, MFN1, MFN2, OPA1

Publications for Optic Atrophy Plus Syndrome

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Articles related to Optic Atrophy Plus Syndrome:

idTitleAuthorsYear
1
Generalized mastocytosis in a foal, resembling urticaria pigmentosa of man. (1089100)
1975

Variations for Optic Atrophy Plus Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1OPA1p.Arg445HisVAR_015741
2OPA1p.Ser545ArgVAR_026533
3OPA1p.Ala357ThrVAR_060836rs190223702
4OPA1p.Tyr582CysVAR_060853
5OPA1p.Gly439ValVAR_072127
6OPA1p.Thr449ProVAR_072128
7OPA1p.Val910AspVAR_072132

Clinvar genetic disease variations for Optic Atrophy Plus Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1OPA1NM_015560.2(OPA1): c.1346delC (p.Thr449Lysfs)deletionLikely pathogenicrs794729196GRCh38Chr 3, 193644008: 193644008
2PMPCANM_015160.2(PMPCA): c.1129G> Asingle nucleotide variantPathogenicrs753611141GRCh38Chr 9, 136418847: 136418847
3PMPCANM_015160.2(PMPCA): c.1066G> Asingle nucleotide variantPathogenicrs768643552GRCh37Chr 9, 139313082: 139313082
4OPA1OPA1, CYS551TYRundetermined variantPathogenic
5OPA1NM_015560.2(OPA1): c.1294A> G (p.Ile432Val)single nucleotide variantPathogenicrs387906899GRCh37Chr 3, 193361398: 193361398
6OPA1OPA1, SER545ARGsingle nucleotide variantPathogenic
7OPA1NM_015560.2(OPA1): c.1316G> T (p.Gly439Val)single nucleotide variantPathogenicrs387906900GRCh37Chr 3, 193361767: 193361767
8OPA1NM_015560.2(OPA1): c.2729T> A (p.Val910Asp)single nucleotide variantPathogenicrs387906901GRCh37Chr 3, 193384980: 193384980
9OPA1NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys)single nucleotide variantPathogenicrs121908376GRCh37Chr 3, 193365898: 193365898
10OPA1OPA1, 2-BP DEL, 2848GAdeletionPathogenic

Expression for genes affiliated with Optic Atrophy Plus Syndrome

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

Pathways for genes affiliated with Optic Atrophy Plus Syndrome

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GO Terms for genes affiliated with Optic Atrophy Plus Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:00057419.5CISD2, MFN1, MFN2, OPA1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial membrane organizationGO:000700610.5MFN2, SNCA
2mitochondrial fissionGO:000026610.2DNM1L, FIS1
3mitochondrial fusionGO:000805310.1FIS1, OPA1
4calcium ion homeostasisGO:005507410.1SNCA, WFS1
5protein targeting to mitochondrionGO:000662610.0FIS1, MFN2, PMPCA
6visual perceptionGO:00076019.7OPA3, OPN4, WFS1
7cellular protein metabolic processGO:00442679.6EIF2B4, PMPCA, SNCA, WFS1

Sources for Optic Atrophy Plus Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet