MCID: OPT055
MIFTS: 43

Optic Atrophy Plus Syndrome malady

Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Rare diseases categories

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 12 65 36
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 11 65
Atrophy of Optic Disc 10 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
Optic Atrophy, Autosomal Dominant 65
Doa+ 67


Classifications:



External Ids:

OMIM49 125250
Disease Ontology10 DOID:5723
NCIt42 C34863
ICD9CM29 377.10, 377.1

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 1 and optic atrophy 3 with cataract, and has symptoms including autosomal dominant inheritance, progressive sensorineural hearing impairment and strabismus. An important gene associated with Optic Atrophy Plus Syndrome is OPA1 (Optic Atrophy 1 (Autosomal Dominant)), and among its related pathways is Glucose / Energy Metabolism. Affiliated tissues include eye, and related mouse phenotypes are nervous system and behavior/neurological.

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

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

(show top 50)    (show all 569)
idRelated DiseaseScoreTop Affiliating Genes
1optic atrophy 131.6MFN2, OPA1
2optic atrophy 3 with cataract31.1MFN2, OPA1, OPA3, WFS1
3wolfram syndrome 230.7CISD2, WFS1
4mitochondrial disorders30.4MT-ND4, MT-ND6
5primary optic atrophy10.7
6wolfram syndrome10.7
7neuropathy10.7
8retinitis10.7
9autosomal dominant optic atrophy plus syndrome10.6
10leber hereditary optic neuropathy10.6
11diabetes insipidus10.6
12peho syndrome10.5
13ataxia10.5
14encephalopathy10.5
153-methylglutaconic aciduria, type iii10.5
16glaucomatous atrophy of optic disc10.5
17gapo syndrome10.5
18spasticity10.5
19spastic paraplegia, optic atrophy, and neuropathy10.5
20paraplegia10.5
21arts syndrome10.4
22bosch-boonstra-schaaf optic atrophy syndrome10.4
23optic atrophy 710.4
24capos syndrome10.4
25autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy10.4
26optic atrophy 610.4
27charcot-marie-tooth disease, x-linked recessive, 510.4
28dystonia10.4
29autosomal dominant optic atrophy, classic form10.4
30optic atrophy 510.4
31optic atrophy 810.4
32leber optic atrophy10.4
33cataract10.4
34sensorineural hearing loss10.4
35autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy10.4
36optic atrophy 210.4
37wolfram-like syndrome, autosomal dominant10.3
38neurodegeneration with optic atrophy, childhood onset10.3
39choroiditis10.3
40papilledema10.3
41peripheral neuropathy10.3
42behr syndrome10.3
43cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss10.3
44leber hereditary optic neuropathy with dystonia10.3
45short stature with optic atrophy and pelger-huët anomaly syndrome10.3
46early-onset x-linked optic atrophy10.3
47upper gum cancer10.3CISD2, WFS1
48hereditary motor and sensory neuropathy via10.3
49thiamine-responsive megaloblastic anemia syndrome10.3
50pontocerebellar hypoplasia, type 310.3

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 20)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 progressive sensorineural hearing impairment HP:0000408
3 strabismus HP:0000486
4 visual impairment HP:0000505
5 ptosis HP:0000508
6 tritanomaly HP:0000552
7 centrocecal scotoma HP:0000576
8 ophthalmoplegia HP:0000602
9 central scotoma HP:0000603
10 red-green dyschromatopsia HP:0000642
11 optic atrophy HP:0000648
12 abnormal amplitude of pattern reversal visual evoked potentials HP:0000650
13 horizontal nystagmus HP:0000666
14 ataxia HP:0001251
15 myopathy HP:0003198
16 increased variability in muscle fiber diameter HP:0003557
17 phenotypic variability HP:0003812
18 abnormal auditory evoked potentials HP:0006958
19 reduced visual acuity HP:0007663
20 peripheral neuropathy HP:0009830

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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Epoetin alfaapprovedPhase 3612113427-24-0
Synonyms:
Epogen
 
Erythropoietin precursor
Procrit
2
Riluzoleapproved, investigationalPhase 3581744-22-55070
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 318968693-11-84236
Synonyms:
Dea No. 1680
Modafinil
Modafinil [USAN:INN]
Modafinil [Usan:Inn]
Modafinilo
Modafinilo [Spanish]
 
Modafinilum
Modafinilum [Latin]
Moderateafinil
Modiodal
Provigil
Sparlon
modafinil
4ArmodafinilPhase 3189
5
Ironapproved9577439-89-623925
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
6
Exenatideapproved, investigational257141758-74-915991534
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
7DihydroxyphenylalaninePhase 0112
8Insulin, Globin Zinc4069
9insulin4069
10Glucagon-Like Peptide 1652

Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright SyndromeCompletedNCT00017927Phase 3
2Treatment of Optic Neuritis With Erythropoietin: a Randomised, Double-blind, Placebo-controlled TrialRecruitingNCT01962571Phase 3
3Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS)TerminatedNCT00211224Phase 3
4Modafinil to Treat Fatigue in Post-Polio SyndromeTerminatedNCT00067496Phase 3
5Transcorneal Electrical Stimulation Therapy for Retinal DiseaseCompletedNCT00804102
6Research of Biomarkers in Parkinson DiseaseCompletedNCT00465790Phase 0
7Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung AdenocarcinomaRecruitingNCT01249053
8Stem Cell Ophthalmology Treatment StudyRecruitingNCT01920867
9Tracking Neurodegeneration in Early Wolfram SyndromeRecruitingNCT02455414
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
14Identifying Biomarkers of Parkinson's Disease Using Magnetic Resonance Imaging (MRI)RecruitingNCT01888185
15Magnetic Resonance Imaging in the Diagnosis of Parkinsonian SyndromesRecruitingNCT02445469
16Defining Phenotypes of Movement Disorders :Parkinson's Plus Disorders, PD,Essential Tremor, (ET),Cortical Basal Degeneration, (CBD),Multiple Systems Atrophy (MSA), MagnetoencephalographyActive, not recruitingNCT02132052
17Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian SyndromesActive, not recruitingNCT00368199Phase 0
18Advanced Characterization of Autosomal Dominant Optic AtrophyEnrolling by invitationNCT01522638
19GLP Analogs for Diabetes in Wolfram Syndrome PatientsNot yet recruitingNCT01302327
20Head 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

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:00036318.2CISD2, FA2H, MFN1, MFN2, MT-ND6, OPA1
2MP:00053867.9CISD2, FA2H, MFN1, MFN2, OPA1, OPA3

Publications for Optic Atrophy Plus Syndrome

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Articles related to Optic Atrophy Plus Syndrome:

idTitleAuthorsYear
1
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. (11668429)
2001

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 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1OPA1NM_015560.2(OPA1): c.1346delC (p.Thr449Lysfs)deletionLikely pathogenicrs794729196GRCh38Chr 3, 193644008: 193644008
2OPA3NM_025136.3(OPA3): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs28937899GRCh37Chr 19, 46056897: 46056897
3OPA1NM_015560.2(OPA1): c.1294A> G (p.Ile432Val)single nucleotide variantPathogenicrs387906899GRCh37Chr 3, 193361398: 193361398
4OPA1OPA1, SER545ARGsingle nucleotide variantPathogenic
5OPA1NM_015560.2(OPA1): c.1316G> T (p.Gly439Val)single nucleotide variantPathogenicrs387906900GRCh37Chr 3, 193361767: 193361767
6OPA1NM_015560.2(OPA1): c.2729T> A (p.Val910Asp)single nucleotide variantPathogenicrs387906901GRCh37Chr 3, 193384980: 193384980
7OPA3NM_025136.3(OPA3): c.143-1G> Csingle nucleotide variantPathogenicrs80356523GRCh37Chr 19, 46057170: 46057170
8OPA3NM_025136.3(OPA3): c.320_337del18 (p.Gln108_Glu113del)deletionPathogenicrs80356526GRCh37Chr 19, 46056975: 46056992
9OPA1NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs)deletionPathogenicrs80356530GRCh37Chr 3, 193384959: 193384962
10OPA1NM_015560.2(OPA1): c.1146A> G (p.Ile382Met)single nucleotide variantPathogenicrs143319805GRCh37Chr 3, 193361167: 193361167
11OPA1NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys)single nucleotide variantPathogenicrs121908376GRCh37Chr 3, 193365898: 193365898
12OPA1NM_015560.2(OPA1): c.1334G> A (p.Arg445His)single nucleotide variantPathogenicrs80356529GRCh37Chr 3, 193361785: 193361785
13OPA1OPA1, 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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Pathways related to Optic Atrophy Plus Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6FA2H, MFN1, MFN2, WFS1

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:000574110.0CISD2, MFN1, MFN2, OPA1
2mitochondrionGO:00057397.5C12orf65, C19orf12, FIS1, MFN1, MFN2, MT-ND4
3integral component of membraneGO:00160217.3C19orf12, CISD2, FA2H, MFN1, MFN2, MT-ND4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:190223610.6OPA1, WFS1
2mitochondrial membrane organizationGO:000700610.5MFN2, SNCA
3macromitophagyGO:000042310.4MFN1, MFN2
4mitochondrion morphogenesisGO:007058410.4FIS1, OPA3
5mitochondrial fissionGO:000026610.3FIS1, OPA1
6calcium ion homeostasisGO:005507410.2SNCA, WFS1
7mitochondrial fusionGO:000805310.0FIS1, MFN1, MFN2, OPA1
8cellular metabolic processGO:00442379.9EIF2B4, MT-ND4, MT-ND6
9agingGO:00075689.9MT-ND4, OPA1, SNCA
10visual perceptionGO:00076019.4OPA1, OPA3, OPN4, 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